id subject predicate object category agent_type aggregator_knowledge_source knowledge_level original_predicate primary_knowledge_source qualifiers ff07387b-4549-4323-b9ce-bb3fb47ec573 CLINVAR:4684966 biolink:is_sequence_variant_of NCBIGene:5293 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1dca123b-1a33-463f-8e28-e2c0e16d500c CLINVAR:4684966 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 62b4ed7d-85ce-41ac-a6f6-67b7e8872aba CLINVAR:2733822 biolink:is_sequence_variant_of NCBIGene:5293 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f93e354-6ab6-4a65-a483-4b5dda61c685 CLINVAR:2733822 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b1105a22-f212-49d5-993e-5cf38978768a CLINVAR:132806 biolink:is_sequence_variant_of NCBIGene:5293 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84d733ee-b05c-4c2d-8d87-42f530ade7a3 CLINVAR:132806 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5221a261-657e-46a8-b3ea-48bdc436b429 CLINVAR:578525 biolink:is_sequence_variant_of NCBIGene:5293 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae20f8c7-5b69-43c7-abd3-d11ee9ea2483 CLINVAR:578525 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 18210f4c-655d-4a0e-826c-2fb1a8e2886f CLINVAR:132808 biolink:is_sequence_variant_of NCBIGene:5293 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61021303-df20-4def-b56e-47d22d82e27b CLINVAR:132808 biolink:is_sequence_variant_of NCBIGene:126805612 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf990ba4-2213-4076-97ca-d577584018d3 CLINVAR:132808 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b078a24a-10a4-4b36-a8e2-c1b06710f9b6 CLINVAR:1406866 biolink:is_sequence_variant_of NCBIGene:5293 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37b4ff82-f849-439a-9b3e-d73dbb781ab7 CLINVAR:1406866 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c711aea2-d3b5-4e05-a855-33330af0183e CLINVAR:1457684 biolink:is_sequence_variant_of NCBIGene:5293 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28c37070-29a4-41a7-a727-dd85ca5f4dea CLINVAR:1457684 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f19a6f48-946c-4b4e-b98f-aad4ffd342e8 CLINVAR:132807 biolink:is_sequence_variant_of NCBIGene:5293 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e89f1d1c-6c28-4485-ba22-1e9a7fb5db42 CLINVAR:132807 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c995f8b9-a596-451a-bf94-e23de5ded886 CLINVAR:4684967 biolink:is_sequence_variant_of NCBIGene:5293 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 859376fa-3478-413b-a355-d885f9bfe45a CLINVAR:4684967 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 41f28145-06ed-404e-b354-2b93c989a7d7 CLINVAR:582515 biolink:is_sequence_variant_of NCBIGene:5293 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26fbfe56-a2df-4eda-9b8c-58b91062a224 CLINVAR:582515 biolink:associated_with_increased_likelihood_of MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 395d906a-e014-4e73-9498-89220d5c519a CLINVAR:88675 biolink:is_sequence_variant_of NCBIGene:5293 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f472f117-0094-4912-a86e-d12bc34ebbab CLINVAR:88675 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 086771cf-6f8f-4563-a78d-870c84790e3a CLINVAR:422410 biolink:is_sequence_variant_of NCBIGene:5293 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bea004d-4698-414a-a706-e7c81b963831 CLINVAR:422410 biolink:causes MONDO:0014222 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 244ff999-564e-4c3e-987b-b8364251e128 CLINVAR:417723 biolink:is_sequence_variant_of NCBIGene:2475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b811127-86c7-4bcb-a01d-c8f4e7f3cbc0 CLINVAR:417723 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c120bf96-961c-4bd1-8f68-0d2a4dd8d16a CLINVAR:156703 biolink:is_sequence_variant_of NCBIGene:2475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar caac895e-d4b0-4116-b5c0-f80dc2ff4ea6 CLINVAR:156703 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0597492-b78d-48b8-99c7-8441bc03d506 CLINVAR:376129 biolink:is_sequence_variant_of NCBIGene:2475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 883e11b0-b2fe-46f5-8cfc-0cc69a380ae9 CLINVAR:376129 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4bf78be4-46f2-49fa-a829-b54bd56d2f7e CLINVAR:1296989 biolink:is_sequence_variant_of NCBIGene:2475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 014ba164-3f26-404e-909b-dc5d780ddfe7 CLINVAR:1296989 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 073aa07d-88b6-4396-9534-316b618e407b CLINVAR:156702 biolink:is_sequence_variant_of NCBIGene:2475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d560385-5255-4357-b4e3-a10d034f4311 CLINVAR:156702 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db7710ee-49c9-42df-bbfb-0915ae86a860 CLINVAR:1296997 biolink:is_sequence_variant_of NCBIGene:2475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87672335-4ae7-4a99-9b9c-ff01b207458d CLINVAR:1296997 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2cb35b80-6618-4982-b321-22d2f53e1a6c CLINVAR:1296993 biolink:is_sequence_variant_of NCBIGene:2475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a93781c6-fc44-4125-855e-69df193bf5c4 CLINVAR:1296993 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b00d0a23-ea60-4c63-b2b5-eb418bba5c4f CLINVAR:376453 biolink:is_sequence_variant_of NCBIGene:2475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81e4e10e-ede9-4066-826f-2adb41128618 CLINVAR:376453 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 152dfef4-40f8-463b-8b62-00bbb6eea025 CLINVAR:374796 biolink:is_sequence_variant_of NCBIGene:2475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6fcbee0f-ff85-44bd-97ef-4bfd3c185ff1 CLINVAR:374796 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c68f9569-5f17-4da4-89c1-fcbc4b390323 CLINVAR:376130 biolink:is_sequence_variant_of NCBIGene:2475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3e27935-32b2-4fcf-8c5c-ea89db65a33a CLINVAR:376130 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10ac99f5-a6e3-49f3-b771-2c432f94ba97 CLINVAR:208366 biolink:is_sequence_variant_of NCBIGene:9132 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8cf79e7c-25d4-491e-a50d-59075416e62e CLINVAR:208366 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b95a91d3-04f1-45f2-aeb2-8c46d345701c CLINVAR:505302 biolink:is_sequence_variant_of NCBIGene:9132 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5f838d4-744b-4660-81a4-ec60adcd4d09 CLINVAR:505302 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8b6eb322-e48e-4c0e-a1bb-574acaf97e09 CLINVAR:6241 biolink:is_sequence_variant_of NCBIGene:9132 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d238cd1-df88-4e3c-8bc9-1220cf837eaf CLINVAR:6241 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd4a8465-b232-4796-a398-14f6d1d009ac CLINVAR:973968 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3775102a-96d7-4355-832b-2c5c8cc09099 CLINVAR:973968 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f172e9a1-8344-4b85-a828-3e9363c4a67f CLINVAR:1470027 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 651b4f26-0bd8-4024-936e-19e2180aadbb CLINVAR:1470027 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 25159570-501f-4bd1-994b-35d416245cc7 CLINVAR:801494 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5eed6c74-c713-4c74-b186-b8b59b6d87b1 CLINVAR:801494 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 79728c68-9d85-4f89-8cf0-0f9c39c3f476 CLINVAR:1445004 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1b2dbee-56ef-432c-9407-5989e2c0e503 CLINVAR:1445004 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ddb4731-e45d-4185-9b1c-2492ba7f86e7 CLINVAR:3906146 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7ae1c6a-c9e5-4595-874a-de8c27aff67c CLINVAR:3906146 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 287b770e-3357-404b-9606-38f3690c46d5 CLINVAR:3758005 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c718ae2-ed87-4f1c-906a-0bf6a146d368 CLINVAR:3758005 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e83817ef-4e0f-4022-8a2e-720549046d12 CLINVAR:13120 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 026654df-3e7a-4b26-9a0e-9cc4bf2dd0da CLINVAR:13120 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44aca8b7-c465-4384-acd5-94186ea5733c CLINVAR:1384701 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db5c5977-c071-4482-9a24-d6373e431b70 CLINVAR:1384701 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca1d2883-3b38-41a2-ba1c-20b7418a9547 CLINVAR:3775071 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4379b1b8-eeea-4c28-8f7e-a246483c28f8 CLINVAR:3775071 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 869b763c-aa0e-4835-b44a-ddd7a83ed8f7 CLINVAR:3255518 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff846d3c-99b0-485c-9943-caca80775ad1 CLINVAR:3255518 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 159d719c-6547-41b7-bb8c-5e52f8465a69 CLINVAR:813222 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af4a6b60-f4b0-4cea-8d6b-027cdcbf7868 CLINVAR:813222 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f46a53b-320b-490a-8437-4fda2d996a99 CLINVAR:98848 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6acc8bd0-677f-4869-ac36-1c8fc5eb9d90 CLINVAR:98848 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5a535a7d-1142-4666-ab59-1af56b7e9ff3 CLINVAR:1321180 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b96615eb-575b-45eb-9e20-afe61528142a CLINVAR:1321180 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f069ae56-d907-42f6-acec-3667ce027833 CLINVAR:973961 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b08d31f-60f4-4b0c-ac71-4c7aca9e1573 CLINVAR:973961 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cc53c0e0-33a1-4a1c-b479-1fab5e523a8c CLINVAR:850287 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73feb60a-10cf-4ac5-a0fc-ed8c42dcfcb5 CLINVAR:850287 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 46f78598-2ea1-4687-90e2-6bcfeb50e8cb CLINVAR:3233349 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d693829-40ad-4a7c-995e-f3cff25ed99b CLINVAR:3233349 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f0f002ae-3607-40c7-b1d5-86c5a9f2ee3b CLINVAR:98846 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7a5f733-ade8-48d3-8504-de9950ff19db CLINVAR:98846 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d3796b61-afb0-4e07-8afc-834f67333556 CLINVAR:560496 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 457e8712-3013-4c55-aea7-9211a13f2191 CLINVAR:560496 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0df1892-8eaa-4f89-b32b-97d0742b094d CLINVAR:1069898 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c063234d-e61a-477c-ae6c-b057c466a4f1 CLINVAR:1069898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 121c4af2-95a9-4150-b9fc-ce62aab9ab11 CLINVAR:870343 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d23b4e4-1b81-4a90-bb21-1892cbb39a02 CLINVAR:870343 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 136a99bb-5430-4ffa-bfd0-2e7e457e7ec9 CLINVAR:1452575 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3174695-8304-4db9-8c99-c7f708442293 CLINVAR:1452575 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79dcb39a-a109-47f3-bfcb-e9a5582726be CLINVAR:13116 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8711e6c9-a0e6-4e9d-8402-dcaa5bb92e5a CLINVAR:13116 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6a3d57d7-4034-46c3-8162-5000743cfdb1 CLINVAR:374139 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d36f184d-0a1b-4a1e-a339-a85c64acb480 CLINVAR:374139 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd5e55eb-67d2-4343-a45f-516171eef91a CLINVAR:427864 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b45c5df7-0925-42e4-8705-cf89bd2da407 CLINVAR:427864 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 689d1dc8-e2e7-4289-8f76-c37c8de73e0e CLINVAR:3024118 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f6f2b2f-f409-44b6-a063-0e2c29c6bd1d CLINVAR:3024118 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5c0f428-7d69-4866-af30-241eedfc5c26 CLINVAR:870344 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7526075a-bdad-455a-904c-3c986677b5dc CLINVAR:870344 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel addd9d25-0409-436a-b2b3-d3886dd988e9 CLINVAR:2131688 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b4aaaf1-e9e9-48ce-b56b-6f2b4e08438f CLINVAR:2131688 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 928ff054-44e9-4786-b578-cca34d176871 CLINVAR:850613 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43d072c2-d4cf-4032-9863-fb084c418889 CLINVAR:850613 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e371f02c-ea25-40fe-962e-e8f3cf62b046 CLINVAR:29873 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fad5caea-6a70-4783-a8ee-5e44af5a60de CLINVAR:29873 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ef675a5b-f524-4f33-9ff8-3cc093dc704b CLINVAR:1986858 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e4321f2-1a73-4986-b719-717acad2fa20 CLINVAR:1986858 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44baaf7d-895c-4526-b008-e2a40936b0c2 CLINVAR:3233354 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a1f7fdc-1a76-4042-a796-9377cee5a1f5 CLINVAR:3233354 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8a637bde-837d-4aaa-94ef-2e5daf20b55d CLINVAR:98835 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b35fc4e9-5b72-43be-b01a-98549658a838 CLINVAR:98835 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c4297fe3-b957-4a85-aac3-46cd8d3d3b5f CLINVAR:421620 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 500418a7-2762-44d1-9cd2-74d67ec919b3 CLINVAR:421620 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9ed1b0cf-fd11-4bc0-9f83-b70c2950dda1 CLINVAR:3775069 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79901a26-817e-44c0-bd28-a2c97fb04aab CLINVAR:3775069 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1eb7b44-a751-4cec-a11f-85b67c311c32 CLINVAR:98831 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a32b1481-1606-4364-af12-cf880ca2f6f0 CLINVAR:98831 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31138526-6e56-486b-9ebc-128d3201c878 CLINVAR:973964 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5039a342-6c52-41cd-8a55-54460d43032f CLINVAR:973964 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f34b8c28-abbb-421c-8749-5dff2f7bbad1 CLINVAR:3024114 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6a03d5e-8f46-41c4-9e00-db7e91d46e45 CLINVAR:3024114 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb7e1f20-a16f-49d5-8a2a-6c559a87e1fa CLINVAR:660359 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04b5f173-bfcf-4961-bebe-aa742e75f6b6 CLINVAR:660359 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f1b1544-ed4a-4b79-9d9d-ec5296201953 CLINVAR:978979 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d278fe6-30ae-4d74-9e05-1c58c671a17c CLINVAR:978979 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47ca891f-3808-498e-8083-c29594d14566 CLINVAR:3024116 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e90b0d76-3e68-492d-a3a0-f7147dc2bae4 CLINVAR:3024116 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5637cb50-92d4-437f-91a9-4e0c5e588663 CLINVAR:98826 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 548c7af4-88da-4698-9733-52ccfcc8cf86 CLINVAR:98826 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8578cdc0-2056-4ec3-a25b-cec4ffb8d839 CLINVAR:29870 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 567de1ce-f577-4667-b15f-4b1ace879320 CLINVAR:29870 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db4a402b-3107-4b5d-b60a-49a902dc204a CLINVAR:427868 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c9d29c8-1964-4a49-ad83-d474a2786f1f CLINVAR:427868 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce7677df-257c-4e0a-97e3-7904a8747a84 CLINVAR:2154687 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfc595dc-3fe3-469e-8686-228edda48466 CLINVAR:2154687 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d611a2a3-86d4-4dc4-b305-2f823a1d1740 CLINVAR:13117 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1e8f7a4-2108-46ef-9cb5-cd472deb87c3 CLINVAR:13117 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b32c6402-8502-4df7-8737-c8966732800b CLINVAR:812758 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e44ccf2-6263-479c-8247-91d6ea2b9205 CLINVAR:812758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2505d236-ad0e-4a05-aafa-8c75d7bb363b CLINVAR:98823 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c4c6708-3abd-4fa2-9fa8-643139a7d468 CLINVAR:98823 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6b00c481-f199-49dd-bbf7-5e8840167123 CLINVAR:596673 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95edf0b9-8eb4-4d48-ad77-5d406b6d7cc2 CLINVAR:596673 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc7b2f34-2980-414a-bed3-10be0a376434 CLINVAR:98821 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9e3c3f9-93ea-4bd5-9156-d44606807240 CLINVAR:98821 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee90e2fd-4f1d-4802-9d7f-fc0d555707ad CLINVAR:1452579 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd5b1254-564f-4ee3-bc5b-a08af4f0cad1 CLINVAR:1452579 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f3bde9d-6270-48e3-ac6b-fdb2be1caec3 CLINVAR:865841 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa58f6e8-f5f5-486e-9e6a-aa4a691da674 CLINVAR:865841 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ed2e731d-abac-4d7f-97ca-169b90ffda4f CLINVAR:2149933 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0abe5ad-d1ee-4103-be47-2955f2e6948c CLINVAR:2149933 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cf1ddaf3-e1fe-40f8-ad08-1627446d2a9e CLINVAR:13118 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47753405-346b-45b7-a86c-0d79e73703a5 CLINVAR:13118 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 862cc366-b936-4204-9cfe-3795aa312535 CLINVAR:1468758 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74f96457-9550-4531-9a1b-e95f19cdf59c CLINVAR:1468758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e722470c-720b-46a2-80ee-d0f63595a04e CLINVAR:3233353 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2392fb1b-7cba-419e-a946-4893fdbdca2f CLINVAR:3233353 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 11947f31-847e-4a88-82dd-5feb4eeca426 CLINVAR:658837 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 709c4b28-8acf-439f-a3e8-363ce04feb20 CLINVAR:658837 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ab906598-c061-437a-88a2-ff4ed3550d75 CLINVAR:973960 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03d69702-3556-42c1-8d2a-fc8fffe79340 CLINVAR:973960 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7974cffd-cbe9-4551-9421-4b84e0c6e6f4 CLINVAR:98904 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b96ae828-e8c9-4f2f-b124-65a4dcb49f2d CLINVAR:98904 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c7737f6c-35ef-4d0d-b73b-e4ae8ea96d63 CLINVAR:556178 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52c075f1-35de-4a92-97e8-5d9e818dc96a CLINVAR:556178 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c3bde2eb-3891-4fcb-9a4b-3b0c13c46dc8 CLINVAR:98902 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d83b923-798b-431d-929c-e37d5e2dcf53 CLINVAR:98902 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f886acb7-1558-4183-8ac5-b7315b2a8db9 CLINVAR:98900 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb577cd7-9ba1-478c-bd9e-6085b0033684 CLINVAR:98900 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9752c3b0-1c71-47f1-b270-88585c844277 CLINVAR:1679125 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a15d72cc-a433-4236-a4c3-9a39f726652b CLINVAR:1679125 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b5b2ac0-36ba-4b06-be54-fec5c30a9fd4 CLINVAR:942448 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 258aff0e-6708-42b1-b2d6-20998aaac5bf CLINVAR:942448 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ebfa6480-fde8-45f5-a58f-687ed5b06fd6 CLINVAR:3385359 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52716927-5993-4475-8332-6cec997ed2bb CLINVAR:3385359 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d73f9e4a-6d25-4c6d-9a81-727c3cd43387 CLINVAR:2678438 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc9fbb9c-e255-497e-b55d-4c6b39225471 CLINVAR:2678438 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f8a3461-5fdf-4d5b-a14e-209b16a804a3 CLINVAR:29872 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97494f58-f7df-42dd-ade1-35bf0d6ac1a3 CLINVAR:29872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b764adb1-f873-4181-8b30-e78ad67df6ce CLINVAR:372493 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5779347-261a-40fb-83d4-2bc89ace06a0 CLINVAR:372493 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e3ceb54-e038-4b83-96cd-7d2c714de188 CLINVAR:1070755 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 477593c1-5a04-48ea-9c49-a41ef3972974 CLINVAR:1070755 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1c47511-4240-4bb2-9388-c046212f8ca5 CLINVAR:1213917 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c059b0c8-bc47-4f1c-979b-ce24833fb3eb CLINVAR:1213917 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a622a6a9-d052-4f08-be82-4d3fd6a2318d CLINVAR:98895 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 214fc1f3-9cfb-4a02-bec4-9814079bd472 CLINVAR:98895 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5c52ade8-2fa5-4288-b756-f46de3472b8d CLINVAR:4686554 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 004ee264-4df3-48c6-8f84-abc4a43351be CLINVAR:4686554 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c7a96cb2-9a53-46c4-8f28-c308c9d64cbd CLINVAR:3024120 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19b42261-1de9-402e-9667-bd0de0d3eced CLINVAR:3024120 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a3bdca9-5c8a-43f6-89cc-9190b95e1e6d CLINVAR:3233352 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90e408b0-7de3-44c3-bd2d-f9fc292650f7 CLINVAR:3233352 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12bfe406-7d54-4c65-9b28-ded6a5dc9387 CLINVAR:98891 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13593121-b7e8-48f9-bd01-20d3af5c597c CLINVAR:98891 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 297c514d-8aef-44db-9ef0-1f83b651954b CLINVAR:973967 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ee34308-43a3-4e5d-adaa-de91bec0583d CLINVAR:973967 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 84edcfc3-e582-4ab4-a8c4-009a4809f744 CLINVAR:3385360 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35665431-19f0-40e5-9f7f-cef052129f90 CLINVAR:3385360 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 05e7f9ca-1169-4baa-93e9-b461889ce4dc CLINVAR:556104 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34cd9c6a-5a16-4156-9466-61630183ebfb CLINVAR:556104 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 205f6191-615d-4f88-b261-81445c301522 CLINVAR:952461 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3473d76-1129-4c36-bfb4-76891a1401dd CLINVAR:952461 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d9d5602-c182-42b9-a3dc-75c0eab3bfda CLINVAR:236480 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f8fec6d-fe22-4bd5-9021-3922a108bbd4 CLINVAR:236480 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 822cf8af-faa2-4986-a3ff-f4892b1016d4 CLINVAR:98889 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3c62152-708d-4559-b2c9-55cb260cee74 CLINVAR:98889 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e1760d4-1112-4535-b04c-057d4dbfa436 CLINVAR:13114 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c7bea12-0df7-4f75-a6bd-09b6a7b20dd7 CLINVAR:13114 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0af725d5-6630-4002-a1fe-700eaf672ac0 CLINVAR:744318 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3aa04f6d-2c95-4872-9e54-23fc4d9dc84f CLINVAR:744318 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9486d0f-0cf3-4335-84ce-5d6ce2f8e7dc CLINVAR:3906147 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 083f5bac-9fc4-4750-b669-f12646bd29ed CLINVAR:3906147 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4effec67-aa89-4f4e-88f5-4447570eaacb CLINVAR:3233351 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42a5339b-054a-4635-877c-6f5c166abbb2 CLINVAR:3233351 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 720b250a-5935-4f00-9e34-8a86021b61a5 CLINVAR:829832 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8e95f07-5798-43aa-9014-d2648862568d CLINVAR:829832 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91c4c21f-c977-41be-b142-1e0f1ba2795b CLINVAR:98880 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2359475-70bf-43e5-ad53-a70ffeb3ef84 CLINVAR:98880 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e721ac0c-89df-4823-8222-9d8ad92a54e4 CLINVAR:3024119 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9350933-651d-440f-a159-702743f29ca7 CLINVAR:3024119 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23da4dd7-b01a-47eb-b90c-50c4b1d993f1 CLINVAR:973956 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5ab5659-c35c-4f94-b6af-fc0f42eed2c4 CLINVAR:973956 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2c5e582e-aa68-4d95-9a32-a49e9476eb18 CLINVAR:801497 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f75bf40d-28bd-4adc-b516-7e5bb7b30f0e CLINVAR:801497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1df1e69e-0f9a-4348-832c-0fcf25f578f1 CLINVAR:1074826 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a462337-fdb0-431f-8ebe-85abca7c1503 CLINVAR:1074826 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba2d03e6-a90e-4a40-baa6-8508828d9c43 CLINVAR:98875 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4ed4a20-8552-43c7-a5e1-d1f42954f390 CLINVAR:98875 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b2dec93-5054-4f49-850d-b2042be70090 CLINVAR:964193 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39383dbf-d13c-4595-a3ba-a0ef4a4b0db6 CLINVAR:964193 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b76cae33-aee9-4874-9027-7f40543c5c01 CLINVAR:978981 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a426876d-2fdf-41e1-8880-90389aa78622 CLINVAR:978981 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 740e98c1-9381-46c0-a7f1-49eeeb06a49d CLINVAR:98873 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc08b2ce-b7c1-4128-9c5a-c211e34dd2a4 CLINVAR:98873 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f96dc168-02cc-4664-9473-d58307425a52 CLINVAR:1067786 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fcf84a63-9d21-4a73-9925-c3dbfeb45f61 CLINVAR:1067786 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1f090c3-4f00-4665-837b-d53513e887e7 CLINVAR:98872 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0e0d55b-53f0-42d7-81f9-86820adfb1b5 CLINVAR:98872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bdbb93c8-2133-4bea-9589-442c17833afd CLINVAR:870346 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e647abfd-9aeb-415b-8c78-1e22c74d25b1 CLINVAR:870346 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a67355e2-3901-4fd7-ac02-dfd3a11326d0 CLINVAR:973966 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56ddb5d3-28e7-493e-a35c-6c36de27f464 CLINVAR:973966 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3132443e-0fa8-417b-a145-a7291a3b35ec CLINVAR:98870 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ebd4a3b-2825-4f57-8de0-50afa358ba77 CLINVAR:98870 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ffd22a4d-bb7a-4bba-946f-570ad7ed16f2 CLINVAR:973965 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d27cd95-fe50-4a3a-ace6-bfe936fef2a2 CLINVAR:973965 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc444c41-75a0-443d-a357-6ffb0d81768e CLINVAR:3024117 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6954889a-deda-4648-95df-e966d59120ed CLINVAR:3024117 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 199cf799-6979-4fb7-8588-4d283985f97a CLINVAR:560497 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45af40e3-afde-4bd7-a657-d8451422ffb8 CLINVAR:560497 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 82ceca96-a151-4b61-9996-79c61c3025f1 CLINVAR:98868 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6338ab0e-566c-4872-ba39-b44d79d2b2fe CLINVAR:98868 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 43dc89a0-1a52-408d-bb27-4de6acfdd349 CLINVAR:467827 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c53aa39c-3e0e-4e77-b653-d0de1c2fc86b CLINVAR:467827 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1f22c351-2643-49d2-8474-2fb0f1c2a7ab CLINVAR:98866 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cffeddf-4791-460a-ba88-c34aa00a3432 CLINVAR:98866 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f401956-949c-4091-b493-822a72f180bb CLINVAR:2946266 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73f520df-4d89-4736-8438-a55cddc37dfa CLINVAR:2946266 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c1eb0c53-251c-4dde-be96-865f0609f4e8 CLINVAR:559521 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4ea01e8-fefe-47c0-8c9a-37de1356bcdf CLINVAR:559521 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07802b07-be6b-4c9f-a434-606ccb33a7df CLINVAR:870345 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fececfd-6a46-4dc7-8138-ee0547e4c43a CLINVAR:870345 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b731bc4-9562-4210-91c5-e15ae54a30cf CLINVAR:2678439 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a6d9960-3744-4b6b-8937-d21333ef08fe CLINVAR:2678439 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b1d6500-800f-424b-905a-0bd637b34fa2 CLINVAR:281715 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31ba5ce5-7bc5-48e2-a2de-b075948699be CLINVAR:281715 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21716010-e7ba-4411-a25f-fb137326b27e CLINVAR:866507 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58a39356-66a5-4910-b607-4b47a9cfdb17 CLINVAR:866507 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 998744e6-5f1d-49d6-ae50-51abea33946c CLINVAR:636202 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22fed341-1ca0-4afb-9917-88367d43bb3f CLINVAR:636202 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5384b016-9b96-4cf8-8cd9-40b88ae8576c CLINVAR:98860 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c121d0b9-238a-44bf-8548-efa7ad698856 CLINVAR:98860 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1bc8f3e-9c84-414f-bfb5-acb21dc82cd3 CLINVAR:98864 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa1df6e0-c4af-4d6f-b9bb-ef953f779aba CLINVAR:98864 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0eebe56c-3e60-45bf-930f-53dd50cbef41 CLINVAR:2202769 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65731ac4-b75d-4ba2-964f-04a76c7a41a2 CLINVAR:2202769 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0545fd6e-00de-42cb-b8f7-0197b38f15a4 CLINVAR:978980 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0032c118-cc4f-41e7-bbcc-2670edbef53b CLINVAR:978980 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 820438df-b551-44c4-a338-c173ebf882bb CLINVAR:98863 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e96bb2f-ccfc-447c-b5a7-b02329acf762 CLINVAR:98863 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56f76995-53f7-4d05-8074-52b68b89aa4d CLINVAR:865946 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 726b7e57-f127-49d6-8a4c-00c7a0b612bc CLINVAR:865946 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a3522b41-3b0d-48e7-9879-de301f89c3a7 CLINVAR:98858 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cf099c7-6c67-4d3c-80ad-16ef81717380 CLINVAR:98858 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 66bcfc0b-78ae-4152-839e-8ff3f65a39ff CLINVAR:98857 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87477cea-06ca-451d-a98a-f46aad32226b CLINVAR:98857 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8c99170-fe71-44bd-9f4b-e45d5a780ff5 CLINVAR:13115 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e42f072-661d-42e8-ae0a-3c7fe195177a CLINVAR:13115 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59cb92c6-f745-4be7-baf6-75bde11065c1 CLINVAR:973955 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 469c5405-4559-4215-9817-77d7e06cffae CLINVAR:973955 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7b5f5bc1-4822-4156-a605-9e9de8f6265b CLINVAR:559523 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9620354-f483-478e-a1cd-643fba764520 CLINVAR:559523 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ddc4dad-6188-41eb-9ece-82ad1b5a61cf CLINVAR:98854 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5ca6a5f-5633-426d-a544-f4f733a62edf CLINVAR:98854 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1931dab6-b9df-48a5-83e9-07fe9af26242 CLINVAR:98851 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 211ca009-e645-4994-93e9-287913fe2e96 CLINVAR:98851 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e629264e-6584-4059-a91a-704c7184f5bf CLINVAR:1068757 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3dc8246e-2bd1-4514-9696-7f59b68939c7 CLINVAR:1068757 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b8353da-78b7-4204-944a-5705d69b4c57 CLINVAR:973954 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6bc13d0-e974-471f-bb70-fd446cead68d CLINVAR:973954 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f5a8fe8-f8f0-4734-8947-aa379a88f59a CLINVAR:1213912 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11b3074b-7d68-4fdf-b11a-219b14784e4a CLINVAR:1213912 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 03481c5f-7e34-4378-ab4f-5fc8429c8395 CLINVAR:98843 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62fbeeca-cb1a-46ed-a395-d90a8ced559f CLINVAR:98843 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b893a205-b870-4d62-aedc-6b78f21f89a5 CLINVAR:4686555 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 316d4642-0d81-4edf-9cec-9e5535caab51 CLINVAR:4686555 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5be3996f-dbb8-4b3d-96ed-36cccc29b35b CLINVAR:98840 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c38606f7-326e-4e21-bce6-588a304715b3 CLINVAR:98840 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a58c581-aaaf-4f30-8c90-60ec1e0e4ba2 CLINVAR:374497 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32d6a6d8-70d9-483c-8d63-51dcb8ad4129 CLINVAR:374497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99863ed4-5450-4539-a5b7-395b3678afeb CLINVAR:968598 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bd03c7a-ff84-4bfa-94fc-7dab8e89fb31 CLINVAR:968598 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1119f0ab-4a98-428c-87c0-1166dfae1e6e CLINVAR:98830 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e8d3d06-4813-4e8c-a74c-9cff392ad370 CLINVAR:98830 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51a76536-d6b7-4bed-85a8-684153bc17ee CLINVAR:3775070 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 156dc2c2-9fe9-4606-b028-948ca31eac3f CLINVAR:3775070 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ae5c056-518a-4ef1-a1bd-538811685531 CLINVAR:98899 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef4646a5-3877-480e-ad7a-9b70061844ca CLINVAR:98899 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9fa0749-26f4-400e-9f7e-98fca936a6b8 CLINVAR:98898 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 850c7009-3904-458a-9bd5-b6d30e75135d CLINVAR:98898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 646565d4-27fa-4c7f-997a-2557341cea48 CLINVAR:437985 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 105848cb-b32a-455b-be6f-48d5a9b826c7 CLINVAR:437985 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1653e411-e074-48a7-ac1d-be2970182d3a CLINVAR:98888 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ae080c0-9854-4e50-92f7-af2081ced2b5 CLINVAR:98888 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1e4f664b-f0a7-4c9f-822b-8f209c765733 CLINVAR:2944236 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9147f158-50ec-4257-85a7-3ef16654a31b CLINVAR:2944236 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8141b8bd-6175-474e-b8f3-f452ce45582e CLINVAR:3233350 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 329022fd-b252-45a1-979b-679e8d207d77 CLINVAR:3233350 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f84fcc1-387b-4a82-83b7-c1bfe70acd34 CLINVAR:98825 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b9c9db2-f5ac-4acd-a592-f255c8ba27da CLINVAR:98825 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d413955-e86a-4e70-a55e-58f5c1b142ab CLINVAR:2110257 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06ced192-aaf9-48f4-99a7-83f348682f2a CLINVAR:2110257 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed18f1ec-e1ba-474c-84a3-16041e8e9882 CLINVAR:98861 biolink:is_sequence_variant_of NCBIGene:6121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6a716ae-66c2-45df-8a45-096fc8702c00 CLINVAR:98861 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8c5f54be-5c83-413c-b17d-9ff815d54037 CLINVAR:836905 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2be6cf4-b3a2-44e3-aca9-50d7f0744b6e CLINVAR:836905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37137d51-39af-425f-b07f-6a0b2c4b84bf CLINVAR:99476 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d432c5c-85bd-42bd-8bb5-c039fcbe305b CLINVAR:99476 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 916fe478-fe7f-4bed-9a39-c467da0d8f64 CLINVAR:99472 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34c9da4e-9e63-443f-b743-c637c77c6ef0 CLINVAR:99472 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d07c1be2-bf53-49a3-9e37-a68cfb4843ea CLINVAR:1440605 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc28fda8-af90-48e9-b238-92bf6a75b18a CLINVAR:1440605 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d473cf0-b267-4ec6-abff-602a0ca01905 CLINVAR:99460 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06872708-8508-4e53-806d-2893cd2d108c CLINVAR:99460 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48da9b71-3562-4d83-a0c0-1d86a65ae49c CLINVAR:298222 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5acef760-9cf4-420b-b720-91e1c541b89c CLINVAR:298222 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9a24208-68fc-4267-b644-7293683f53e9 CLINVAR:99458 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6427d3b-7ac9-4383-aae8-adb5104e48ee CLINVAR:99458 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 189149cd-4e9a-4718-a6b6-a8737c02eaa3 CLINVAR:2202779 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db6bb0c9-f5ac-406e-9760-cfbc011041f9 CLINVAR:2202779 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53736fdd-671c-4923-947f-2212d370a5e1 CLINVAR:2021273 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0b48d6a-c708-434c-89bc-992e12a44445 CLINVAR:2021273 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0753895c-4e73-4ac7-a95c-3af42956ba62 CLINVAR:99455 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cc466bc-529e-4660-bfc6-c04853d7063e CLINVAR:99455 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f4dfc3b-ed0d-4209-863f-c69885a64220 CLINVAR:99450 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1693de3e-da4b-4c68-945a-68d1c0c9a1a8 CLINVAR:99450 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8055620b-a113-46fa-9401-e9615831a48c CLINVAR:635988 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 400975d2-14e6-475a-855b-745fedc106e9 CLINVAR:635988 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58725080-28d6-4af8-8c67-0986111ab555 CLINVAR:2202780 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c3b8051-6d17-4d15-ae16-a0942273ac68 CLINVAR:2202780 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ddc386b5-9e4f-42fc-afc2-60a076573b4b CLINVAR:99430 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3b90efd-429a-44a0-aed8-08cb3ecc736e CLINVAR:99430 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75c39c73-f1d2-45dc-867a-711dbced8144 CLINVAR:99428 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 241267e9-3bfc-441d-9864-73e989b6924c CLINVAR:99428 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 30b797c5-f73f-419b-9dd3-af85b7151ffe CLINVAR:7888 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63c3ac18-f569-4750-92d7-567a261faf6b CLINVAR:7888 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3fe91e17-d440-42e1-bd75-093e00693c70 CLINVAR:4538555 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4b5810f-8784-4a98-9de0-8f01d10a0501 CLINVAR:4538555 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c70a5ff-9094-426f-a9f6-1bd205c98d67 CLINVAR:871507 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 010f5d82-2e82-47b2-a8da-1db4a5437b41 CLINVAR:871507 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2f199bf-383e-4848-84f5-cfb871d0b272 CLINVAR:99403 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44002389-4bfb-4cc3-a2fd-404364255f5d CLINVAR:99403 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6601d505-0b7f-4ce1-af9d-63fc5a0e33eb CLINVAR:99394 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d45d6ae0-e683-4d7b-a958-d46ee4c38deb CLINVAR:99394 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 341e5591-fe53-4d64-8396-573315cd5382 CLINVAR:1196428 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f94353d8-94fb-482f-9bb8-2d89b81e277c CLINVAR:1196428 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d6b3310-aa48-4eea-8804-5b444a054914 CLINVAR:1454986 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72334e81-b02d-4b72-b6af-cffd1ea9e6e1 CLINVAR:1454986 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f9785c7-3fbd-43e8-a01f-595822798d66 CLINVAR:92870 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27ff84c9-122d-4f61-9325-22461be4d746 CLINVAR:92870 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed9be749-3a8e-4414-a055-19a93b8a0840 CLINVAR:99375 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 296740a8-e6bc-4bcc-ab74-f592cc51c59a CLINVAR:99375 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6e6a03c-eca3-484b-84ae-0bff2d79bb81 CLINVAR:2585325 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c64df2bf-fcb3-465e-ae5a-7e676a670f7f CLINVAR:2585325 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 19fb9b49-6e43-4e11-9b18-cb76fe6c5f49 CLINVAR:236129 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33e1dc01-7869-4187-bf0a-81bce5aef27b CLINVAR:236129 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f06f6716-71fa-4038-b61b-92cd602a2b46 CLINVAR:99359 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87d228fa-dffe-40a2-8d80-1983c0c563bb CLINVAR:99359 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 070f30ab-0f12-466e-926d-e837773a3aa0 CLINVAR:438100 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd9b84e2-1547-4779-aa46-0d9a2e52cffe CLINVAR:438100 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59a9f16f-d2b2-41dc-89c5-f08ed9c3bb70 CLINVAR:99338 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4a9cf2d-55dc-4dfb-987e-32aa8038eaed CLINVAR:99338 biolink:is_sequence_variant_of NCBIGene:126805793 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99bc07bb-a330-4b26-a3d0-279b1039cc62 CLINVAR:99338 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77ce33d7-2dd0-4eaa-a28a-7fca785c9e5f CLINVAR:99337 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a2c74a0-9c55-4127-8921-85fa7d8b7146 CLINVAR:99337 biolink:is_sequence_variant_of NCBIGene:126805793 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c66736c9-93d8-4883-9187-a08a941120cd CLINVAR:99337 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae6274ef-191f-42f9-842a-83ca1558ac6b CLINVAR:3381789 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0d6215b-e3f2-42a9-b04b-5e74dbc40bf0 CLINVAR:3381789 biolink:is_sequence_variant_of NCBIGene:126805793 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa09ac27-2942-4fa3-9678-8df611050fd1 CLINVAR:3381789 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a241dd1a-7c79-4b35-a4ed-d1bc927cc289 CLINVAR:812202 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 938894a1-a935-484d-b8d0-c53e312e855f CLINVAR:812202 biolink:is_sequence_variant_of NCBIGene:126805793 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6939531-1f7d-425b-b8ba-0948c4fcd48e CLINVAR:812202 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d476d2d-533e-463f-9bca-221d34c9319f CLINVAR:4538554 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 245de42f-97de-41a8-b170-9c642e7ec95c CLINVAR:4538554 biolink:is_sequence_variant_of NCBIGene:126805793 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6eff9801-7091-439d-9297-c749a2451b5e CLINVAR:4538554 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35c210f7-f908-493a-8a45-2bfc7782ca23 CLINVAR:236122 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84d8cfd6-534c-48ba-8f04-38ce334d0c12 CLINVAR:236122 biolink:is_sequence_variant_of NCBIGene:126805793 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea304c0d-0375-4830-a083-2288223c9aa7 CLINVAR:236122 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ddc2cee-bfe0-4842-9b02-d64a82093598 CLINVAR:1460063 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8987f38-ac22-4d16-a915-181956eb4762 CLINVAR:1460063 biolink:is_sequence_variant_of NCBIGene:126805793 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2792e66-5115-4864-8289-03814cf0f4e8 CLINVAR:1460063 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96aa3c4c-225f-4b2f-9e8e-c1980ecc23f2 CLINVAR:4538559 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddf8b5fc-dcfd-4024-b2ba-1005486d1593 CLINVAR:4538559 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae5e01b7-91f5-4ecb-bfc2-c3e2b0760ca7 CLINVAR:99303 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e569e12-5d7d-40c5-9079-cdce2ace4e9a CLINVAR:99303 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36be2454-78d0-4947-aabe-95504926577f CLINVAR:2733921 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1003173a-a153-4bb1-8da3-d0afe3ff935f CLINVAR:2733921 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e90dadd-2890-42c5-b0f1-b99339d0a37d CLINVAR:99292 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5329a4c8-6b9b-49be-aabd-b4b562d19eec CLINVAR:99292 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea7db1df-426d-498c-ba90-0be5fdb7f1d0 CLINVAR:417992 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 847cbcd2-24c4-44b5-9567-bec3f77548db CLINVAR:417992 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0c587fdb-99f0-45eb-bc5b-e547b67a28f8 CLINVAR:99283 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a916c805-5070-4a7b-90dc-ff8847c8ccbe CLINVAR:99283 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c470dfd-83fa-4d99-8b44-39f14dce9ea7 CLINVAR:236114 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3da18893-59fe-42ad-b6f7-99978d60ccc1 CLINVAR:236114 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c4a80b0-0f97-4d05-bebb-c091efdfd1a9 CLINVAR:236113 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffad4a31-9743-4832-a5c6-cdba7e7af29a CLINVAR:236113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5a8835b-44ab-4504-bdd8-c217b8b939e5 CLINVAR:236109 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5be29b50-5bc4-4fb1-b2d0-3664e45c93e0 CLINVAR:236109 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 965a3d25-3f9a-41ed-bc41-32874bd700d6 CLINVAR:7904 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f7ccab6-f8f7-4090-bda8-735c1a31c79a CLINVAR:7904 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a564a65-5a65-4ce9-b6e9-cde7f8db4494 CLINVAR:99249 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa462a14-1a9f-44a0-acf9-04fe12319113 CLINVAR:99249 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c38f15b-92fd-4347-80c3-a682ab6ba1ec CLINVAR:1457683 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19bca766-e0df-429e-a299-1c5bc3dd9179 CLINVAR:1457683 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b23022f-dab1-436a-9cce-221d94b6c1a9 CLINVAR:4538558 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77ea1752-ec87-4538-9361-86578fb34df1 CLINVAR:4538558 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 234c828a-ca39-47fd-9425-dfb2aefbb6a9 CLINVAR:866229 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 444f98ca-c011-4c4f-a104-ea1b5fdd5256 CLINVAR:866229 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f9ecad7-1be3-495a-bfa2-6c92e1e9104e CLINVAR:99224 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aabc9bef-85a3-4669-aa2c-04d662b99ccd CLINVAR:99224 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76126f0d-341a-4fc4-85b5-9cedff31f4d1 CLINVAR:1212117 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69da71f6-6e74-43f1-a4e0-b038f224f778 CLINVAR:1212117 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 597c9d75-e34b-47b0-bc3a-50a4efa84d9a CLINVAR:99219 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04e22794-f847-4c62-b0c7-b2379ff27433 CLINVAR:99219 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fa48ca6-49f0-4f41-9bfd-950e4119ebd3 CLINVAR:372290 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8118499-1a2b-4732-be74-1aaa307772d8 CLINVAR:372290 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d7badee-767a-4ea1-b92e-e47502037ac8 CLINVAR:4538556 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 495e0614-d178-47d6-aa74-f3f823c544a6 CLINVAR:4538556 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3bd16798-38e7-459a-bf9c-aef02d2463b4 CLINVAR:236516 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 870d2a7a-6296-439a-bb6b-5ca70b98bd72 CLINVAR:236516 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8af6d839-e8fa-4f3c-9c75-fc8a494d2ed2 CLINVAR:289310 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05d64a2c-72fc-4c61-8907-0b818e17ab25 CLINVAR:289310 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d97c5f2f-57db-42cb-9752-93024e8a5f0c CLINVAR:4538557 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc87f5e0-91c8-4ecd-b060-45cb2a7502a2 CLINVAR:4538557 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e82bf59a-f4bc-4643-9e1a-6cc51488e768 CLINVAR:7905 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6fe30c12-622f-4cea-9d02-b5eeb3e4241e CLINVAR:7905 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef2bbf91-e116-41e7-9b5f-97cfb871e4f0 CLINVAR:1372740 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8735ee21-726f-47aa-b2ed-6694161e0a73 CLINVAR:1372740 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef2f4894-d54a-4247-9846-40b36b4d59f3 CLINVAR:2733935 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad1484e3-6fba-4f2e-b182-8646232497dc CLINVAR:2733935 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b93b56c3-ffe1-4774-af96-783e0739417d CLINVAR:4538553 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edb19f3c-e5b2-4240-984c-f719d8c9b8a6 CLINVAR:4538553 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 844a0b3b-7496-4828-aad4-0084f63766d2 CLINVAR:99135 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f6786fb-e9c0-4fee-9312-162fb816240e CLINVAR:99135 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02a041b9-ff22-4f09-aa61-11f4ddd38e4d CLINVAR:2664262 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe106c0d-6f43-45f6-b4c3-b902222f3baa CLINVAR:2664262 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 250e6f59-61e3-4b07-89ca-01817cfe514e CLINVAR:498001 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 514fb17c-3b16-42a7-94bf-e1f745ecc8fc CLINVAR:498001 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3146c04a-6c28-40f5-872a-6b3eb6b34e1e CLINVAR:99108 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6551ceca-0f4c-416b-a438-0ee7e1a54312 CLINVAR:99108 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5d8db95-813f-4f82-8cfa-d0059f36edca CLINVAR:99104 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 892bd59f-b829-41c5-9546-e67a21b31377 CLINVAR:99104 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 725ddf5e-6d8c-4c4e-add3-84f4d0fd4a20 CLINVAR:99087 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 869e4281-6eca-445f-8805-3e506280a1fa CLINVAR:99087 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c17606a4-081c-47e8-8e7b-e0d1e4fb27d9 CLINVAR:99084 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 491a2802-668b-40cb-9e04-14acd71e6ffe CLINVAR:99084 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd570aba-4761-49e1-9dd4-cf5bd6ba3724 CLINVAR:99073 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e12e9f9-624f-490b-86da-e111b80bd08e CLINVAR:99073 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bde59dda-d0f5-4781-958a-1f07a5849fde CLINVAR:7900 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 872ad026-c038-4278-a90d-9f60cc905904 CLINVAR:7900 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65492344-58d4-403b-b3e4-dd70181f9897 CLINVAR:2733942 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc721355-e91d-4b2c-afd9-df9f42b4e2a9 CLINVAR:2733942 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad773e9b-942c-42db-949c-bde019d67b27 CLINVAR:99035 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28283768-4b87-46b3-8d4f-9bed331fea9d CLINVAR:99035 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d96551bf-adda-4dbb-87f7-ba199fa6f6ea CLINVAR:866242 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59eeb728-dc6d-4ac7-9a72-7781b3fde9d8 CLINVAR:866242 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79033fa4-04d4-4c30-91ba-2c98aa538d52 CLINVAR:812208 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76ecbc6f-13e2-4873-98b6-5f9c1d78f57e CLINVAR:812208 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e508d1b0-3897-40a3-8c40-6f324a26ae62 CLINVAR:7898 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a51dd4fe-d9c3-4b3e-b45e-14b3badb3139 CLINVAR:7898 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 212cb10b-2d1e-49d7-bf9e-87daed399143 CLINVAR:866421 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ecb8980-a959-4b11-bfb8-40eceaf0e126 CLINVAR:866421 biolink:associated_with_increased_likelihood_of MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9d8e85aa-2afa-46d0-bfd1-28de8143b949 CLINVAR:99300 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65277aed-f6db-441b-90c4-ba3f87e74b55 CLINVAR:99300 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a72b317a-991c-4438-93ba-5094657947fb CLINVAR:99113 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42ebb0ec-bd92-4bf2-910a-da9f33975646 CLINVAR:99113 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 509380f3-c43a-4cd3-bd85-01752668f426 CLINVAR:99305 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab032ce8-7db0-4f6c-a1be-65aee05dca8d CLINVAR:99305 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbdeab63-245b-4109-8822-ee979cf94c40 CLINVAR:99217 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b878b6c8-cc84-4b24-9968-ce316b0eb02f CLINVAR:99217 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3a8bc5c-a490-426d-92ac-624269d3323d CLINVAR:280328 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 994a8867-b38f-4caf-9b09-94d2c2415afb CLINVAR:280328 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 994c96e5-0dd6-4bd2-b1c1-b6d4f3d0a4ce CLINVAR:99110 biolink:is_sequence_variant_of NCBIGene:24 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd7d0a3f-d366-4953-84c7-05ebd3325637 CLINVAR:99110 biolink:causes MONDO:0800406 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 344f2f8d-b3fd-4e61-bf94-0cb277dcc33b CLINVAR:13903 biolink:is_sequence_variant_of NCBIGene:4893 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a40e0cdc-9762-4799-9ad8-0305bdcd4ecb CLINVAR:13903 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 791d9a3a-14f5-4bc7-bbfb-3a335302ddb3 CLINVAR:1070042 biolink:is_sequence_variant_of NCBIGene:4893 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ebb29d1f-7710-4f02-9b89-247fc951060c CLINVAR:1070042 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa15f9a3-ea6c-444b-9696-1bba6d905acd CLINVAR:13902 biolink:is_sequence_variant_of NCBIGene:4893 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57b7c453-7ca4-4ae6-a9f2-7a3bcbb17a08 CLINVAR:13902 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f04ecbb-b619-4401-a378-9e0643797474 CLINVAR:222971 biolink:is_sequence_variant_of NCBIGene:4893 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d48f447f-0e8b-4ba3-89b5-ef3015f425da CLINVAR:222971 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 463dec36-5217-4a91-9a12-cb51a9bd4d9a CLINVAR:177778 biolink:is_sequence_variant_of NCBIGene:4893 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e86b859-6448-4463-a96a-e23e6da5387b CLINVAR:177778 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64fff5c9-f019-49b7-8d34-78f90fd22055 CLINVAR:561681 biolink:is_sequence_variant_of NCBIGene:6016 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02248de2-7956-4bf3-9b0e-2592051ee8fc CLINVAR:561681 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6162471-4c63-492b-966c-45d74f5c7b5a CLINVAR:1686794 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a7cf42d-8c49-439c-a0b4-2a8909d009a4 CLINVAR:1686794 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 261a4504-7187-4acd-902d-6c19de16c21d CLINVAR:1686794 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 5330f3e1-07b7-40ae-8765-8e78660ba7e5 CLINVAR:1686793 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52c5b161-3041-40c9-88b5-cc8534fa8ffd CLINVAR:1686793 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3767bd5a-4c2f-48f9-b01f-bd9194723366 CLINVAR:1686793 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar dc7848ed-c189-49b6-819a-91652b470d31 CLINVAR:1686792 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c364fa16-e701-44fb-a1dc-ce8a567d05cd CLINVAR:1686792 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ac7330be-2d85-43b5-acce-e170bb6656b6 CLINVAR:1686792 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar cfa4c37b-b7b6-4a7d-babf-a6b8d8afeb87 CLINVAR:1810378 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87f5a9db-e948-47c0-ab82-fa49f845a891 CLINVAR:1810378 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7c47443d-0e12-4ed2-9c9c-575d25dfac57 CLINVAR:1810378 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 70973549-c4a7-4ddb-8351-72f63ec08ffe CLINVAR:1686789 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5864fb53-b0ea-4e9a-af44-c2bed41ffc69 CLINVAR:1686789 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9c5bc83f-0f9b-49cb-bcf0-8f04bdb92f52 CLINVAR:1686789 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a0567227-7eeb-4a1e-a126-836bba7a9fd6 CLINVAR:1686785 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee28282b-ed1b-45ec-8ca7-0c148275e91b CLINVAR:1686785 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d37f2702-7e09-4c2a-b9ec-d50db981e8d7 CLINVAR:1686785 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar ccd9271f-607b-4fe3-bb3c-86d7a838fc20 CLINVAR:7951 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc617fb7-10c9-419c-b896-e4358b1943c9 CLINVAR:7951 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ab5318c-1c27-4f38-9e68-97edeb5b3036 CLINVAR:7951 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 305f12f0-f4b8-466b-9c74-04999348970a CLINVAR:1173106 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 697af1e5-ac8f-46c3-9706-d7797236a78b CLINVAR:1173106 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 310abd47-a7b7-4154-b3e6-95ad49828462 CLINVAR:1173106 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 748857a7-2e14-45b9-903c-cd2c07bd3c00 CLINVAR:7950 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40f3a669-ccbf-4bfb-92ed-bbcfeee08866 CLINVAR:7950 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cb0bcbed-333c-4408-8e29-23d95b347e6f CLINVAR:7950 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar d284d39f-e29a-416e-a2f1-8a709d755e53 CLINVAR:30205 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ed1e5c7-8f8f-43bc-9777-6ce5542da641 CLINVAR:30205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0283c87e-a7c6-4078-a688-f9251dc05c01 CLINVAR:30205 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 18b5532b-0cf1-49b3-8cf4-242fcf2834de CLINVAR:2575101 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84739fc3-0410-4bd1-a868-8d16701d0b05 CLINVAR:2575101 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ba52a834-b3f7-40ae-8294-5ad22fcf0153 CLINVAR:2575101 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a4e9ec7f-fed3-4ce8-a500-0ea0e6c40aa3 CLINVAR:2505295 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02eb92be-748d-40a3-82c4-7a9712615f6c CLINVAR:2505295 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 402d34fa-7c82-4de9-934b-f939e210c6f5 CLINVAR:2505295 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar c8ee8650-338a-4ba3-bb4b-918fb90bab4c CLINVAR:2429757 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f302945d-bdf9-460a-9984-4d91453eb237 CLINVAR:2429757 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 37030c8d-7003-4f2d-a02e-7f359c3b5c03 CLINVAR:2429757 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 4b434f0f-a07a-47ef-9e5d-993608c9c378 CLINVAR:7946 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7822b156-c9f2-4c4f-9d64-c4c2e1051e8f CLINVAR:7946 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3dc11e2-d682-47b1-8e70-7b9162e15eb1 CLINVAR:7946 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 8fe13b76-9300-4426-b829-b54961c0918b CLINVAR:2500839 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49d2caaf-3cd7-44d1-917e-7538f0b7d48a CLINVAR:2500839 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bc532560-f5b4-4efc-8d7a-25addf42a405 CLINVAR:2500839 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 7b2205cf-df2c-4419-817f-445dd30e1594 CLINVAR:7956 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5476fec0-d3a3-4b22-b5ff-35acb816535d CLINVAR:7956 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d1e6155-1ab6-49e9-8eac-f53afaeadf2f CLINVAR:7956 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 37c7c000-8c70-4742-99f1-fc3a05182960 CLINVAR:1686782 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 960d14ee-a115-4c2c-a871-4458df6bfb53 CLINVAR:1686782 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4f27b861-be42-4092-8d94-408eb29dfba9 CLINVAR:1686782 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar e6f639e4-3f68-40dc-91e8-b208bec72690 CLINVAR:7954 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53513a39-65f7-4af3-82ef-5f9b1670fb6b CLINVAR:7954 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13ce57c1-b3f2-4379-b5c9-e32d79b997a1 CLINVAR:7954 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar df3b1b25-0152-42c3-a781-fc6cba10d8b4 CLINVAR:7957 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1e3abf6-7700-4676-b440-42285e955745 CLINVAR:7957 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 882f671d-39c4-4de9-a315-ec1a3b47f4a6 CLINVAR:7957 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 54386375-c052-4e88-b6c0-0bd68a765c1d CLINVAR:1686795 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 101c24de-4e4f-4a7b-962c-04b61ccbf0fb CLINVAR:1686795 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ef34a7ce-1190-455a-a4ff-41ad5de32b62 CLINVAR:1686795 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a0cf866d-9126-41d4-8f2e-6050b79ca0d5 CLINVAR:2505287 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d1c0118-2d89-4b42-9324-5b0665dd46ae CLINVAR:2505287 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6d11bb4c-93ff-4430-951e-b69335337222 CLINVAR:2505287 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 6a31d4f3-2d01-4557-af8c-587505952a6c CLINVAR:625855 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7ab5df3-0202-4ad5-85ac-bd6c5e72cdf5 CLINVAR:625855 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 001e5bc0-6f99-4dc4-b586-8557df6005bc CLINVAR:625855 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar aaf9ffb4-8937-4606-94d8-4ac2ff257599 CLINVAR:2570632 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e2a7d2c-8483-4881-ac6b-5372f005d1dc CLINVAR:2570632 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4a382ee9-e590-42be-aea6-cc613a89991e CLINVAR:2570632 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 20d8ea3b-89f3-4f71-8170-99be0d2e2e07 CLINVAR:2570631 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fc4d986-56dc-4aca-85f4-d163d87a869c CLINVAR:2570631 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4c15abb1-90ae-4652-b194-28699e81865c CLINVAR:2570631 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 17039ed9-8874-4134-bceb-9c3573901c59 CLINVAR:1342205 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 318ce0ac-ea78-44f9-92a4-b802a016f340 CLINVAR:1342205 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6a44d4e0-ccfc-41d3-8df6-2eb4142dc83b CLINVAR:1342205 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar b98f240b-bccc-466c-a9e5-08b76e10ddf0 CLINVAR:1342964 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4dcc6fe-9199-4a14-997e-632f6012e9bc CLINVAR:1342964 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 89632571-2c0d-4aaa-9a34-fb931ac7fe3c CLINVAR:1342964 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 499562cc-3c8b-426d-8492-87db343088ff CLINVAR:1342203 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86e4b925-54d9-45a0-8607-d5337c31b848 CLINVAR:1342203 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f28a916-e385-47eb-94f4-62bb46d7900c CLINVAR:1342203 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a1c18512-c79f-47bf-a2f8-dd81d4e4afb3 CLINVAR:1342965 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb625da6-e493-45f2-bc3b-4bcd70e5bd1c CLINVAR:1342965 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9b119d8d-d87e-43e7-9647-fa6103a3836d CLINVAR:1342965 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar b15f45d3-95df-4f73-ac8b-4663aec40a2f CLINVAR:7961 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec9944fb-ccd8-44a3-99fd-566c0c9c427b CLINVAR:7961 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dc47a5d2-ffc6-4dbf-b416-94c6d00455b8 CLINVAR:7961 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 98c988dc-3962-47f1-9372-37f7c71f36f5 CLINVAR:1342202 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cff5c4be-198d-455c-aeef-2f23db316556 CLINVAR:1342202 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1274ce9-d0c0-473b-b76d-381c0ec34d63 CLINVAR:1342202 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 31fcdab2-3d44-4b60-af04-2e8a9b48be3c CLINVAR:2500837 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 192f6d58-9d29-46ff-a5da-e8f8c3894832 CLINVAR:2500837 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 44028bd9-a5b7-4bb0-a3ea-debfabf3b3a7 CLINVAR:2500837 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 6012e7de-4e8b-4e65-92c7-ddb32aeced7c CLINVAR:2500835 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7d8da59-0ca6-4797-8030-901738160804 CLINVAR:2500835 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dfaf3441-985c-466b-b17c-6747d5d9d977 CLINVAR:2500835 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar e0fbbf5e-8ea9-4ef4-827c-1f7570b4a2da CLINVAR:7948 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb47e321-adec-46d4-8487-2831cb204b48 CLINVAR:7948 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e34e55a-1b0e-4a68-a0ad-b62fa11808d4 CLINVAR:7948 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 1620322c-d636-4cf9-b329-20e4f90839ff CLINVAR:1342963 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1c53cb8-2a52-4148-9646-e7d489a3fb25 CLINVAR:1342963 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 159551bd-0e9a-4fd2-a6a9-eb3d4d924605 CLINVAR:1342963 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 6801ae08-b54c-4a80-95e2-5c768b2d0739 CLINVAR:7949 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67833ec2-1cb3-4838-b935-b8ad2d534bff CLINVAR:7949 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be5ea4ca-468f-42bd-a1b5-c49bb2f73b00 CLINVAR:7949 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 1a2bbc20-2327-4c86-81a8-e4b3b604fa1a CLINVAR:7952 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cea2eae-9156-4126-9382-5dcb19f37620 CLINVAR:7952 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbd13c2c-1457-4362-80d5-4fba830c8f7e CLINVAR:7952 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 90b65cce-9726-48b9-8a5a-17cbe74ca990 CLINVAR:7947 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ee6e028-5d3a-4adb-9b5d-7548bae9b75f CLINVAR:7947 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee7bba9e-7d52-4a09-806c-c2cc3d91f11a CLINVAR:7947 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 673a8c0d-3caf-48c8-933b-4d390dddf80b CLINVAR:1342962 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a580c8c-86b7-4fea-921f-c08f6afe1b4a CLINVAR:1342962 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 35099d3b-4f1d-48f7-b59c-2d6722e6f863 CLINVAR:1342962 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 78cf5146-778e-4905-a1b1-59b7ccca82d9 CLINVAR:1439558 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04e5d0cc-0bd0-4c8d-8b7c-4fb9bf27a616 CLINVAR:1439558 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc96c7a7-2950-471b-8d06-4cddb05dc2b3 CLINVAR:1439558 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar c1c26e14-3bc7-4792-9e4d-7f163e082a58 CLINVAR:1342198 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b66e0a37-c72b-48c3-be04-7a688efe9e11 CLINVAR:1342198 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 216cfd3d-ad3b-451a-84ca-6e4d7465f20b CLINVAR:1342198 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 72aaffa3-7914-4190-8c7a-72b6929b7e52 CLINVAR:1342969 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a07fee9-a201-48b4-986e-b2afc7f983c5 CLINVAR:1342969 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 80811369-0e10-465b-ac4f-01cac2adc0bc CLINVAR:1342969 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar f3318721-a4fe-4ad5-a74f-830eff4cbb0f CLINVAR:1342197 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80c96471-8f0d-4251-97da-df0875c0d250 CLINVAR:1342197 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b8f17e94-eacb-41c3-b7a2-4479d50b53e4 CLINVAR:1342197 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 1ea47f52-10dc-482c-b37b-da4b2b7c5b9d CLINVAR:2429760 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 884595da-f3a0-436d-b05d-f9cd08da7237 CLINVAR:2429760 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 76b266ad-c0e5-404f-8e62-5614b0317601 CLINVAR:2429760 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar c1238f2d-b955-4593-9b74-b385be4787d4 CLINVAR:1686788 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e6cdebc-04f9-49ff-9f29-d92f28f3e95a CLINVAR:1686788 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8a915cb1-9410-468a-bdb9-2f96b719bc2d CLINVAR:1686788 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 580ff13f-64d0-45ff-9ee5-77d6641a196c CLINVAR:1342967 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43cf6d73-eaa7-4103-988b-e327a4e111be CLINVAR:1342967 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 57b1be98-ff83-4996-bc01-406a818bc637 CLINVAR:1342967 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 5724ca9f-0444-4044-9601-65702827592b CLINVAR:2429764 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36abceb1-3a85-4108-a952-ab2219466f75 CLINVAR:2429764 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dd54a845-fcdc-4495-a918-5f6f107ab722 CLINVAR:2429764 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 3e1164db-cf33-43da-bb05-87be4baf81cc CLINVAR:7960 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80223b73-6394-4179-97e8-e6cfe605df57 CLINVAR:7960 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a19dbca-b8de-44dd-a552-8f69715456b7 CLINVAR:7960 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 9fb45310-a6ad-4e0f-a810-7245897ef4da CLINVAR:1342196 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be84cffa-a97f-4e70-baa2-7b9c3fa6a4e4 CLINVAR:1342196 biolink:causes MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1382a54a-63ba-4d39-be77-290cba1f8dc1 CLINVAR:1342196 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 3b426afd-57d8-4995-aec6-839d5019301d CLINVAR:1342210 biolink:is_sequence_variant_of NCBIGene:4653 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b01d36b-1eac-4c56-8e19-057b9e184cab CLINVAR:1342210 biolink:associated_with_increased_likelihood_of MONDO:0005338 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 08114d7e-34d6-4845-9934-fde4672cce91 CLINVAR:1342210 biolink:contributes_to HP:0012108 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 14c8d0aa-f083-4cf3-9724-ae7dbc9e2fdc CLINVAR:18017 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 762db41c-a47f-4c26-96cb-5979a53badd3 CLINVAR:18017 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f9ba7b1b-475c-4ce9-b7e3-d3dd6c8dfc97 CLINVAR:18017 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 7ccda3d3-db3a-4635-8d14-97f861aec00f CLINVAR:627228 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d03bd45-518d-4724-844c-33e07b338fb8 CLINVAR:627228 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2f434aa-7209-49bb-a593-a96938e046d0 CLINVAR:627228 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 20a467bf-2800-4dc4-ae60-45ed740072b7 CLINVAR:2734037 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6451d321-ae65-47b9-b62b-b6c0fce17b2c CLINVAR:2734037 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3966eefc-8a7f-4518-81e9-24ef2559b93d CLINVAR:2734037 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar edf32a31-d318-4638-a34f-80b2881d9ac6 CLINVAR:18003 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab7cecd3-9824-4e68-9fc7-9c7845352068 CLINVAR:18003 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 83a4d8a5-64a5-4598-9ef7-746e19261403 CLINVAR:18003 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 6e48d224-c737-4e43-b2e4-e89efb2f12dc CLINVAR:18010 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72fa7814-2ef6-48ce-887f-f2a50b7b798c CLINVAR:18010 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d61b9ebb-75d8-4f27-911d-e507a124ef9d CLINVAR:18010 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 7361efe7-47ee-4dfa-85bc-065c0037ea05 CLINVAR:18009 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1fc29b70-9580-4039-8cff-b2e7c21c2f62 CLINVAR:18009 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c2367093-5344-4435-be4b-974b38c5e401 CLINVAR:18009 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 2b2941d3-bdd2-429c-8c61-e4273aada07c CLINVAR:18019 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 339d2849-709c-48e7-bfd6-15da5f8bc9e4 CLINVAR:18019 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2e3855d-a6ba-4c42-a705-d8fec1965f9c CLINVAR:18019 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar bea2012b-10e2-4efa-94b8-87c8072f86ff CLINVAR:18016 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b566469b-355d-4c5a-ab9b-2b58a956cf4d CLINVAR:18016 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6904bc53-1355-4a7d-97ad-0d2d643b033f CLINVAR:18016 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 3c1dea92-a692-4a5d-ad16-c3fe69f2fe17 CLINVAR:18023 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 943f2195-71dd-41a2-b6d2-2b9b144f1d03 CLINVAR:18023 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87c02db2-b3d7-4c74-bb7b-c3f729554567 CLINVAR:18023 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar dadf5806-173f-4593-ac74-264ed0c1f441 CLINVAR:18007 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e56d8e03-adaa-447c-8c41-a779fab30dcd CLINVAR:18007 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91a8c9d5-7559-453f-a0c2-e18bb617ff4c CLINVAR:18007 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 4fdc3d13-a8d2-4549-ac9d-c7b8a12c66ad CLINVAR:18020 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9b51ca9-2360-4506-8143-d202c30afd47 CLINVAR:18020 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 46c866e1-45b4-4abc-8508-cd96d3dda6e7 CLINVAR:18020 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar c79bc9dc-81e3-4825-8e5d-36befacd8aef CLINVAR:1527905 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1a1cf87-95a2-435f-b06f-bd04ceedcad5 CLINVAR:1527905 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e8aceb6f-1b70-49d0-88cb-ac744e6e327d CLINVAR:1527905 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 8b2ab3fe-dcb2-457f-b476-2b0567b38c33 CLINVAR:1678105 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0968b758-4ab9-4d8f-bfd1-5e7df7a13b43 CLINVAR:1678105 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1cfe27f9-0bee-4054-a4a0-9bdbad3133f2 CLINVAR:1678105 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar d5b7b2bb-8534-48c5-b344-bc3ec6ec2cbe CLINVAR:1068471 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a86ad9c-5822-4b7d-a0a7-3154e7aeb514 CLINVAR:1068471 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 22440570-3f9d-4e4d-9a05-0a46d0709dde CLINVAR:1068471 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar e115d912-95a9-4c12-9e8f-1ddd2df13625 CLINVAR:2734038 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbb593a6-d98d-433a-b1c2-0cc294c91b08 CLINVAR:2734038 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdc0ba33-6906-4cf3-be19-5a41b4f7e9e5 CLINVAR:2734038 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar b933fec1-3a5c-48be-a091-bfc30ef3fd87 CLINVAR:863657 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 444b1c48-f239-41c1-ade7-6ef27d1a9169 CLINVAR:863657 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4767810c-827d-4c95-b262-d72006bff5d2 CLINVAR:863657 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 29b7b88b-2aa1-4eb1-bb92-6ad23e2deb0f CLINVAR:410384 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11b8a686-8bd4-4336-ab5c-9bd8ac82ad65 CLINVAR:410384 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12d9fe73-fce0-4f63-8a80-767d9c6e1ee5 CLINVAR:410384 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 1b743630-7865-40f8-851a-6b8efb584641 CLINVAR:2734039 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54d829f4-967a-4b5b-a552-84aae41bbd31 CLINVAR:2734039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7f13c5b8-9a6d-4da3-a162-78087b06c562 CLINVAR:2734039 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 50f86ca5-67b3-4c47-a0cc-e8d8238be659 CLINVAR:100923 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 827d182e-9d53-47a6-8fce-16d5ad1b0a22 CLINVAR:100923 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 068e8199-a186-4099-8ad8-c4bacd9dbbe4 CLINVAR:100923 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a2d50f0c-e4dc-4ea5-af83-c11ec76b49e6 CLINVAR:627161 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d90b4588-ed04-42a5-819d-c71f0faad8de CLINVAR:627161 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c56474f2-31ca-40f4-abe3-5a9b7227ae63 CLINVAR:627161 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 65d7e6b1-d98b-4bf7-aeec-8e5187c45128 CLINVAR:3242375 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d4319fb-7048-4cf7-94b9-df856bb0836a CLINVAR:3242375 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87aa9127-4bef-4fd3-ac74-5870fceeaea1 CLINVAR:3242375 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 059d66d2-de6e-4975-9613-37674c9ed98e CLINVAR:961679 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bc287ff-c571-4130-ae35-2051bdeb1a62 CLINVAR:961679 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a49e09e-d21f-4047-97f9-d253cbac32ad CLINVAR:961679 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 074131a6-b707-4d1c-9b60-e6040349c0dd CLINVAR:18026 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2566cb95-22bf-4852-a128-3828b44dff53 CLINVAR:18026 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ddc81556-9c03-4c4c-8b89-d8ca406eb7ec CLINVAR:18026 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 09275c1d-27ef-459a-b3ec-bbad8b269b4f CLINVAR:2581081 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d4b134e-427a-4ea2-a92c-bea65f3702ef CLINVAR:2581081 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca3cea86-4b1e-4c4a-8074-0c78732ad5fe CLINVAR:2581081 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 06b9b1fc-ebfa-45cd-bdf9-60f0ccd6cb70 CLINVAR:627374 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8e80e01-f4ae-4d36-a0d6-cf16cf8ef913 CLINVAR:627374 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a26278a7-2d56-4d2d-bce6-9f20c04c547c CLINVAR:627374 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar bf7b3eb1-8201-4ebe-b451-b2a86e9656f7 CLINVAR:18042 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb7daa8d-99c4-409a-9370-53e1b78b3799 CLINVAR:18042 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b17a1738-49c4-4855-a45a-2103363e00c4 CLINVAR:18042 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 5a386476-f472-4052-bee1-e357a4ba44e9 CLINVAR:694627 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 466e3f1d-37aa-4fd4-93d1-06eb1bb2496a CLINVAR:694627 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6dc02ee5-8779-453f-93e1-5b1aebfc6111 CLINVAR:694627 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar c4e5a284-77ab-479f-8e42-752fbbbe1345 CLINVAR:2429353 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b7f599e-5ba5-4bc7-9f4a-7ee572501cd6 CLINVAR:2429353 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21893c8a-122b-41f8-a481-811e330c0b5a CLINVAR:2429353 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 33a12d06-7f5c-4760-951e-3b488d07e3be CLINVAR:18030 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 369bdb06-e11d-4b7e-913f-f3d187c2247a CLINVAR:18030 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91a757d4-5b02-4d11-a707-eb343b04a124 CLINVAR:18030 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 311277f2-253f-41c7-9a9e-e58e6d69dba5 CLINVAR:18029 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e9475d2-7b28-4154-bec6-1ddf0846053b CLINVAR:18029 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98806b26-db4a-4924-ae40-242e6f6ce57c CLINVAR:18029 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 4e9dc063-924f-437f-9d74-081c79d083d4 CLINVAR:654211 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f659f227-4948-4c7a-ad14-f4893d5c508e CLINVAR:654211 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 62a9f26d-7d2d-4478-970e-0a9889a58b61 CLINVAR:654211 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar f14c4f9a-3368-4349-9f8d-11071c4d8b48 CLINVAR:661606 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b22e3b28-d5b4-41eb-b2c9-dfce88325645 CLINVAR:661606 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4c52f9c-3b70-4733-b304-bd7d8e248ba8 CLINVAR:661606 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 98117f31-29d4-4145-b1e2-e8d401bce8cc CLINVAR:18039 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1618662-200f-41d5-8586-4a8c54280cc9 CLINVAR:18039 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0688f01d-3c6f-409d-b64a-7f59bc17ed8a CLINVAR:18039 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar dace5ff8-ed54-4e6d-badc-11c0240fac79 CLINVAR:1170692 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aca67306-2cfa-4e3a-b472-09e67bec60db CLINVAR:1170692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dad8c3d1-dbce-45d1-b269-b7070e6e7402 CLINVAR:1170692 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar d51befc4-3c8d-4e92-8b93-5f3bcec3cb42 CLINVAR:661362 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79ba5893-e482-497f-b050-6d5a4b56d580 CLINVAR:661362 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 783fb72f-a7fa-4ff0-a6bf-87c65a52379e CLINVAR:661362 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar e2e7e64a-4a8f-441a-bd59-cadfc7bd7492 CLINVAR:18034 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 213dac07-ba1d-410a-8979-02563cf6c7f3 CLINVAR:18034 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d47ad3c-f240-4771-a1fa-ecdf84b52d23 CLINVAR:18034 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar b49a23b5-86c8-40bf-ba96-077ffb052507 CLINVAR:4686611 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52a90e1a-a037-475d-80ef-b9001595b107 CLINVAR:4686611 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 68173747-5ece-48bb-9833-f385e21d8bde CLINVAR:4686611 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar f82d313e-d1d6-4b37-9dec-809b0a6c3cf3 CLINVAR:2581080 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00806cff-d254-4d67-ac9b-8f3c5b3d0f57 CLINVAR:2581080 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 95089eec-fb16-4701-a2c2-a8b0f79e9bed CLINVAR:2581080 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 8741d7af-0e0b-437b-a39f-4a136a97779d CLINVAR:1001692 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a45ea0f7-09e5-4b6d-a38d-dd71888debc6 CLINVAR:1001692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0552bd05-70aa-4cb0-85a7-dea9ecd06cba CLINVAR:1001692 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 86ed6694-529c-4d9f-b4b1-f42ef06aa860 CLINVAR:18014 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07146b4d-4b8e-4dc1-822c-5b73cea027d8 CLINVAR:18014 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04c8aa46-20c6-43da-824e-dc6e849e9ccc CLINVAR:18014 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 76d3190f-239b-4e9d-858c-a62e046586fe CLINVAR:18004 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 917ca841-f2e4-45dc-aa6a-179935f0c174 CLINVAR:18004 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 596b5494-849a-49b4-99c4-9c2f38232e41 CLINVAR:18004 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 8a359059-c83d-4c0a-8843-21b75c5097cd CLINVAR:18015 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc4c788d-b443-4f30-b484-8c014c4978fc CLINVAR:18015 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6f6eac22-9668-4c7c-bf8d-d954fa8ef901 CLINVAR:18015 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 77fd55b2-7a37-4e5f-b427-d40dcf916847 CLINVAR:18011 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0410e20d-3cc8-4c2d-be79-7ca12d7a2e55 CLINVAR:18011 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4759655-f118-4fd8-af08-7af83f4ea6ef CLINVAR:18011 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 04662169-b812-47b6-8270-3229f6950ef6 CLINVAR:18021 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6e0a0ce-335c-4853-9da9-07dbaa83a58a CLINVAR:18021 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2e29f6a8-0354-4354-8467-bafd003f7765 CLINVAR:18021 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 822eb6da-d97c-4ab1-af4f-63a49183a60d CLINVAR:18012 biolink:is_sequence_variant_of NCBIGene:462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5593069-9f56-49f5-955f-dd92174d0725 CLINVAR:18012 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d626cfc-e315-4123-b7f6-2c8a0aa234a9 CLINVAR:18012 biolink:contributes_to HP:0001976 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 78f4c203-614f-4559-98ba-8ec532c89796 CLINVAR:177636 biolink:is_sequence_variant_of NCBIGene:7139 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 375de0e2-5358-4ef1-bb63-7ac0cfcc4553 CLINVAR:177636 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4878d81e-7c8b-4a95-9f36-4278b2bf8100 CLINVAR:177636 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 52b60fff-6fab-4e31-a4b6-325c5caa27ff CLINVAR:43673 biolink:is_sequence_variant_of NCBIGene:7139 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37b138bb-9c35-42c6-8c5d-eeecb05e9884 CLINVAR:43673 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 97d40e32-2c03-4b40-8afd-3f6967dc49c9 CLINVAR:43673 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 146b2b65-f37c-4ae4-ac05-00713a43d853 CLINVAR:43628 biolink:is_sequence_variant_of NCBIGene:7139 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05a9a409-099a-4341-a0c3-2679fa137b79 CLINVAR:43628 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 27a90926-1e2b-44b0-a51e-7e9fcab31972 CLINVAR:43628 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar e88bad95-10de-463d-9671-31fe3f6ee583 CLINVAR:429215 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a3a848f-3d8b-4816-9072-3c5539abb626 CLINVAR:429215 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a2e0c75-3400-4c40-840e-ea382403d698 CLINVAR:178937 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7c3c963-4a4d-46d0-9931-f93be43dee8b CLINVAR:178937 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a94bb5aa-af22-4fa9-ad1f-389d75ca56fc CLINVAR:48409 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf11b9b5-1e7d-4ba3-987e-3b6f675fe3e0 CLINVAR:48409 biolink:associated_with_increased_likelihood_of MONDO:0019118 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 05528570-4b85-439f-8b0e-5f9ea5ac8ebc CLINVAR:48409 biolink:contributes_to HP:0000556 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 809e7234-07af-4243-a2d0-8b599f3fb0fb CLINVAR:48409 biolink:contributes_to HP:0007736 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 77f9b924-c39f-4bfe-8887-3cc0c66b71af CLINVAR:48409 biolink:contributes_to HP:0007910 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a2a81174-8c91-476e-b9dc-c938d5d43813 CLINVAR:48409 biolink:contributes_to HP:0007974 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 60a91be7-9c74-4a92-802f-3391980f600c CLINVAR:48409 biolink:contributes_to HP:0007982 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 91532a86-2922-4137-b1ff-3dc2cc58d991 CLINVAR:281818 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32a28e58-8b95-437e-b7de-367e93131efe CLINVAR:281818 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 30b7563a-c961-4975-bc3b-d98ae14f7a68 CLINVAR:48395 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02ea8853-13ab-41f8-9f9e-a72fcadadb2c CLINVAR:48395 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b8265cf-0b69-44dd-9c5c-d1c27bfb3af0 CLINVAR:236537 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 463d6500-5972-440d-b41c-f7811b161aeb CLINVAR:236537 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f839c8b1-a0d9-4975-b509-aad1f045419d CLINVAR:506273 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1859a302-4b5b-4aaf-a90c-70470c226e37 CLINVAR:506273 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1856d485-ee4f-452c-a32a-5d6a7e91c697 CLINVAR:197510 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89175f83-097a-4c13-9426-0afd4a60eac7 CLINVAR:197510 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d608bdf4-f7e7-40a5-866f-e3d27963460a CLINVAR:48604 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4105b811-e68f-4923-b5ee-8ef9a8309e25 CLINVAR:48604 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 166c6416-c494-4ab3-9dd1-b9dec874d0aa CLINVAR:48544 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e49c62f-0006-483b-8489-224a410f25af CLINVAR:48544 biolink:is_sequence_variant_of NCBIGene:102723833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1411c3df-c298-40e4-81df-b6c466592231 CLINVAR:48544 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 47c7616c-d7ef-45a6-a914-3020bc39d6b2 CLINVAR:48535 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4279ad80-ff08-477c-8c93-c8b5f981f67a CLINVAR:48535 biolink:is_sequence_variant_of NCBIGene:102723833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2ecae58-d5e3-427d-be25-2262921cf4cd CLINVAR:48535 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e09ef103-8bba-4e33-a7e8-52cc90a11af5 CLINVAR:265979 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1fc019f9-c47d-4b8f-b847-c67c82f6bec8 CLINVAR:265979 biolink:is_sequence_variant_of NCBIGene:102723833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2086c96b-759f-4302-97d3-d69e7d2ce980 CLINVAR:265979 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel abf17b42-4487-4311-8f36-e937052670f2 CLINVAR:179773 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 161b7eb0-c5d8-4e8f-948b-2906752ff6a3 CLINVAR:179773 biolink:is_sequence_variant_of NCBIGene:102723833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04706254-ff90-43b8-a1d9-8f2cdb8b074c CLINVAR:179773 biolink:causes MONDO:0019118 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee4107a5-55c2-406c-ad03-345404bb6dcb CLINVAR:179773 biolink:contributes_to HP:0000556 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 0c650adf-9f51-4b32-8b4f-d687934f319a CLINVAR:179773 biolink:contributes_to HP:0007736 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 75934557-b8a2-4094-a541-d1bad4433c4a CLINVAR:179773 biolink:contributes_to HP:0007910 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 940a2922-60f2-4856-9dbe-5756b0c7617a CLINVAR:179773 biolink:contributes_to HP:0007974 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 06376af5-10ae-4da9-8884-3dd2a6030c8e CLINVAR:179773 biolink:contributes_to HP:0007982 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar bf5c6705-6f67-4850-9fbe-065a05e7b5d6 CLINVAR:166504 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c4e1911-87d3-45dd-ba38-4ceeb44719d7 CLINVAR:166504 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a69d47be-aba9-4c58-9ed5-4c1e8a9c2cc6 CLINVAR:2353 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e18df18-5341-4899-b788-db4ea84bd0ec CLINVAR:2353 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 383fd32c-eff1-49a7-917c-400a1a7d1e6a CLINVAR:48503 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d57e091-fd7a-4a38-88ba-49c09d5b5778 CLINVAR:48503 biolink:is_sequence_variant_of NCBIGene:105372918 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cd984d9-4392-4800-bccd-c190c6582446 CLINVAR:48503 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 96836f16-9c5e-46a1-8c03-b8c05cbd7335 CLINVAR:133312 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 714e139b-f000-44fe-864a-a848390e11a9 CLINVAR:133312 biolink:is_sequence_variant_of NCBIGene:105372918 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ec1bc34-6755-453f-b10c-b594314445af CLINVAR:133312 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e668def5-3307-409a-80e3-f74446d1a20c CLINVAR:2356 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea355a28-f966-4ec7-8ae7-fca1221dfb57 CLINVAR:2356 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af7a8866-aa2f-4031-957c-318e4ddf964e CLINVAR:418533 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 174da34b-6887-4546-a450-a41c29b85c93 CLINVAR:418533 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 618c812d-b53b-422a-92b6-28e5b46ac796 CLINVAR:549981 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff268ddd-7261-4280-9b58-7c090d1c5451 CLINVAR:549981 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 531f5367-c882-4314-897e-39841220741d CLINVAR:48347 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d1f8e65-786b-4337-b17e-fdc58a6dc286 CLINVAR:48347 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52eef747-74ca-4d5b-b6d6-4758ee4713ff CLINVAR:2355 biolink:is_sequence_variant_of NCBIGene:7399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fedc9cc-a3ed-447c-b1de-3e5232bbf6a5 CLINVAR:2355 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08ba9a16-259a-4665-9156-c01be83fc7ab CLINVAR:801630 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e21c9970-a393-4b85-8c95-de47a9de31fa CLINVAR:801630 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b78a807b-4301-4f26-a0cb-b9ad8ba43dea CLINVAR:3390919 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ea0abca-4a7e-4b86-8886-6df1e6e5bbc0 CLINVAR:3390919 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a55e983-68b6-4e20-9b3c-f585e7021534 CLINVAR:431989 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 205e3811-688d-487f-a724-b31affadfab2 CLINVAR:431989 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14ecb665-5074-4c7e-baf7-960a2997e1cf CLINVAR:3391169 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6db340f-8f78-4039-8f7a-15c4b912a07f CLINVAR:3391169 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 066fa1cd-9f4e-4181-a4a6-9fdaf4897473 CLINVAR:18284 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 801678fd-cd62-46e8-9c47-9f31db1ffceb CLINVAR:18284 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53e8f5e2-0b52-470e-90e3-c00eb56b995d CLINVAR:127188 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 172fb49c-6d23-46d5-9d98-04a285d2a87d CLINVAR:127188 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b7a783d5-2e17-46d8-849d-1943828ba8a1 CLINVAR:464113 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae934ea5-1b52-4249-b3cf-018635eb2bd1 CLINVAR:464113 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 63648ed7-6fd8-41a6-a6da-04d8915c4fc3 CLINVAR:1303122 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ca87713-3d6c-4305-90c8-2a90b32cd394 CLINVAR:1303122 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2c69dbe2-925b-4acc-acf4-a3272006dee2 CLINVAR:18288 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da9db83b-4fed-4661-bcb1-29d4f01b3e8b CLINVAR:18288 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 40d837e5-7365-44fb-a4a8-b4a757c494b9 CLINVAR:532770 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91b722b3-92a3-49e3-ad5b-aee7e81e8f92 CLINVAR:532770 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ff16b600-5876-4aa8-8f24-1ece344b0b07 CLINVAR:1031829 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8db2ab31-68aa-41c7-afea-a05fd730cb8d CLINVAR:1031829 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5375475a-c262-4e04-bfd7-d8b715bbcf70 CLINVAR:18291 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c155c3d6-de7d-4774-b830-05c5f73f8b7e CLINVAR:18291 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f02ce623-7894-47ab-859d-f3186eb324f1 CLINVAR:464139 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 714e518d-c88b-446f-ad38-69d214cdf5f4 CLINVAR:464139 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4d02a6e-c914-420a-950b-0d18e8c6d240 CLINVAR:521371 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ce2f7e3-d574-41d1-bd1c-0b2880b8c0d6 CLINVAR:521371 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8a67689-fb90-48f5-aa53-bc9748f9fe42 CLINVAR:420100 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0a2876c-37c2-4682-9395-fda98bd981b5 CLINVAR:420100 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d09b6a39-ecce-4e9d-a344-9a7c53bb410e CLINVAR:18292 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eac117b0-4de2-40a7-a93c-39874076c181 CLINVAR:18292 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ccadae4-1e78-4115-82a5-064ad92f5ee6 CLINVAR:2582809 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f06b19eb-38ca-41d0-8004-218ab86c6195 CLINVAR:2582809 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d8595f4e-ebb6-477e-818b-61b9057a69e6 CLINVAR:280732 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51f2660a-bea4-4d9d-8bbe-977e5785667e CLINVAR:280732 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eace81c3-0ed2-4f35-a647-41e2ef3e0081 CLINVAR:93549 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec280756-92ca-42e5-a78c-abdbbcd19a72 CLINVAR:93549 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 326dbf85-e30d-467f-b05d-b545ac4e1ad9 CLINVAR:280863 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ff8f855-e232-4f29-a8de-d75fcc8a5bf8 CLINVAR:280863 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 537036c2-82d1-4298-9add-38b5321acb69 CLINVAR:18286 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 038e8be8-02c4-445c-b992-084b6d01feda CLINVAR:18286 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 35a6cf15-d2b0-4caf-bf26-18bae8b7c448 CLINVAR:377433 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5bfbf607-22c5-40a1-98ff-41554923dfaf CLINVAR:377433 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6ae4d2e0-6c9d-49f5-9e5e-c1ca3349baba CLINVAR:654469 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f274e6a6-c566-4906-84ca-e044837fdb85 CLINVAR:654469 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 723e6c4d-8be6-4991-8c2f-e17bce4d0c13 CLINVAR:817462 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 164fd998-470b-43c6-bd2c-33fd064d96ba CLINVAR:817462 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f20d12f-2385-4dfe-8b68-c4cf760dcb65 CLINVAR:2582036 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eecf9909-28ac-4001-93ff-6e723dea93ec CLINVAR:2582036 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5b185a24-cb60-4b6c-bb99-baf311b64e03 CLINVAR:427190 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dee7390f-c677-4a3c-9cf3-f684e8d76057 CLINVAR:427190 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 85676146-0605-4d0a-aaf0-b001cc411c1c CLINVAR:1452968 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92ea561e-0edd-4098-80cf-284e943cb738 CLINVAR:1452968 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55ed1367-d178-413b-a115-a7f773f83711 CLINVAR:464114 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4043a87-f642-439f-8893-fad04d9c0d48 CLINVAR:464114 biolink:causes MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 778b4903-4280-463f-a36a-45ca24876a4c CLINVAR:642798 biolink:is_sequence_variant_of NCBIGene:58 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 220e3b28-1fb9-4f70-847f-8996964a059d CLINVAR:642798 biolink:associated_with_increased_likelihood_of MONDO:0100084 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 69abf9e3-0f94-4bd0-be1c-ccb2bbc37f58 CLINVAR:39816 biolink:is_sequence_variant_of NCBIGene:10000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35b6fc70-d5c3-4f46-950b-9ee0ef3df4e1 CLINVAR:39816 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 576760bc-9f91-4603-b427-c7bf04d05156 CLINVAR:178503 biolink:is_sequence_variant_of NCBIGene:9381 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26dcccd5-0ca0-48b6-805c-1dd4b153f518 CLINVAR:178503 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 16bc19f0-7fd4-4972-9498-69371ce61b46 CLINVAR:48256 biolink:is_sequence_variant_of NCBIGene:9381 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed2e57a4-7b8c-4950-819e-22e84fcf8b3c CLINVAR:48256 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 309ca88f-2321-4509-b00d-c78e48670c67 CLINVAR:48253 biolink:is_sequence_variant_of NCBIGene:9381 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b36a3d2-2436-4f84-af9a-5d517c7843af CLINVAR:48253 biolink:is_sequence_variant_of NCBIGene:112840921 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e09ae95-e42e-43ce-91f2-fc802b508f30 CLINVAR:48253 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0540ce8a-2c51-43da-9491-784180170edb CLINVAR:2429109 biolink:is_sequence_variant_of NCBIGene:9381 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a185925a-d084-4427-9815-5949e9f1c28f CLINVAR:2429109 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5c2bf2ff-8146-4266-9ea1-e4f5be6e0229 CLINVAR:6137 biolink:is_sequence_variant_of NCBIGene:9381 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 842eeb1c-138c-4e65-9306-7942cb6c7083 CLINVAR:6137 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1f57071-8de1-4ac4-9c58-76bcfdd9775d CLINVAR:1703051 biolink:is_sequence_variant_of NCBIGene:9381 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60479744-eb7a-4dfd-ba3c-cc15cb18cad0 CLINVAR:1703051 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 67aae9e3-5c70-424a-9a00-fe20ee90f027 CLINVAR:21831 biolink:is_sequence_variant_of NCBIGene:9381 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4ae92a6-d92b-42db-bd84-fd26396e4c2b CLINVAR:21831 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28d84537-4073-4b65-bed7-846d96f57906 CLINVAR:254648 biolink:is_sequence_variant_of NCBIGene:5500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b3a68d0-a329-41f1-a2a9-d12b82856a83 CLINVAR:254648 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74b75de1-bacf-46e6-8a01-a078098d424f CLINVAR:427633 biolink:is_sequence_variant_of NCBIGene:5500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 405b0790-d646-40ed-893d-459b44c9278f CLINVAR:427633 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3341a0de-a174-4ce9-a91d-58b169e9d29c CLINVAR:254652 biolink:is_sequence_variant_of NCBIGene:5500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0dc97094-d374-4673-a582-1290e6d1b2b9 CLINVAR:254652 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ca777b8-2559-4182-8f42-1b669f69bcb3 CLINVAR:254651 biolink:is_sequence_variant_of NCBIGene:5500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f97a4cb-0722-40b7-86f3-6f5431111b93 CLINVAR:254651 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6cd3c6b3-c564-4e73-9429-63c0979db8af CLINVAR:254653 biolink:is_sequence_variant_of NCBIGene:5500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b3f69b7-2737-4c7c-90c2-40e4289c7baa CLINVAR:254653 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 54c18c8e-ca42-45cb-b9d0-b5592ab868e6 CLINVAR:4530672 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab1b9bff-3a78-49b4-9fa0-6dbab6b0b51c CLINVAR:4530672 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 632749ea-bb71-44c9-a125-1a4a95894edf CLINVAR:813355 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51260c2a-de6a-42d8-aad8-562b7810751c CLINVAR:813355 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 634e4c62-551f-458d-abfa-26202e3d082a CLINVAR:4530671 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae2a089d-2acc-4ef0-95d8-a35f8a1bf5c9 CLINVAR:4530671 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a614f3d-4276-41b7-b38b-bf07bb9a2a8c CLINVAR:96699 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f71f9e99-29d4-4168-a632-e0ac02ce52d3 CLINVAR:96699 biolink:is_sequence_variant_of NCBIGene:128772254 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80aa978a-f797-43a3-80a6-7c7525462210 CLINVAR:96699 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6b0f8c78-231d-4a2b-a2e6-e451c97c42b8 CLINVAR:7733 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54e4d6b1-f77f-4f19-8a83-6b0fa4524fe8 CLINVAR:7733 biolink:is_sequence_variant_of NCBIGene:128772254 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e76d742-be88-4f94-a5ed-ca6f7209e7ff CLINVAR:7733 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 474deb92-7e43-420a-8d57-d2d3f96400b6 CLINVAR:845455 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4b43f9d-396f-4f20-b50a-f9f986621444 CLINVAR:845455 biolink:is_sequence_variant_of NCBIGene:128772254 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9405aca1-42b5-4e90-bd11-4aae356ca9c3 CLINVAR:845455 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b120b10-7365-4dfd-8a67-00f4d2d089ea CLINVAR:1254629 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a153dd20-90d1-4cf2-9951-23f1325556ff CLINVAR:1254629 biolink:is_sequence_variant_of NCBIGene:128772254 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62104970-3b63-4010-90c9-3e098fc0c808 CLINVAR:1254629 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20812707-0111-4138-822b-cd2cc87f9f1c CLINVAR:68466 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d44d0d4-deda-4c2e-a93b-a5d58e70725a CLINVAR:68466 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da383056-0530-4fc5-be94-278d4e52e592 CLINVAR:1331361 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 687b821c-5f43-474b-a880-597e8f5418ac CLINVAR:1331361 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0371eb38-c3a6-4769-8541-1164ecf4a584 CLINVAR:592512 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4e5cc0e-6681-4572-b8c0-879bc8b9da09 CLINVAR:592512 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc9e05fd-5874-46b6-965e-0c4e1950565e CLINVAR:335952 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d05da4d-54d1-4412-a875-089c5b77bc4d CLINVAR:335952 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74d29595-4f2a-4574-b0b0-a88e742764b9 CLINVAR:2203048 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f4809a6-4697-4a26-8b7d-f99780bb98cc CLINVAR:2203048 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33b17cd4-cb1a-4886-a243-0890f93e4326 CLINVAR:7735 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41700faf-f2ae-4a8b-ac44-3ebc6318a891 CLINVAR:7735 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c14f34c5-3736-4092-82b0-95a8c0f595e4 CLINVAR:7734 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1575013f-60d0-443e-bad3-8f6b303ef7a3 CLINVAR:7734 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a8d9a9a6-7f58-4f5b-af48-779c4d019761 CLINVAR:1489392 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ce4f0d7-1e13-4fb1-bc2d-5109dbb24abe CLINVAR:1489392 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d2845ebc-a811-4abe-b535-2c284f5c3ec0 CLINVAR:7732 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04c42281-2972-4675-b5b0-4da48b1058c7 CLINVAR:7732 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 77f37982-7203-4235-84b4-281da4843f64 CLINVAR:1339668 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 030646af-33b2-4c6e-9dc2-c70cb4578812 CLINVAR:1339668 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ccce6d8a-8979-441a-ae6b-422ae25abebe CLINVAR:282564 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3728a703-0f40-4fcc-b440-66bef36ac2e0 CLINVAR:282564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11737bc6-f2d4-46e5-8692-a6c3cedfd5c3 CLINVAR:1412564 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 174b2112-05b5-4544-a274-38780316272b CLINVAR:1412564 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41bebc60-8590-4bb8-8b1f-b0753ec578e3 CLINVAR:4530669 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1dc3f08-6bee-4afe-8c0a-384b6081628a CLINVAR:4530669 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26ea5512-b63a-4656-8f85-df96d1e38860 CLINVAR:1339135 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ab052d0-ac4a-4620-9689-c2fe2e10e861 CLINVAR:1339135 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3783dd10-0079-4d18-b53b-8defcafce081 CLINVAR:2681127 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89b27b37-5376-447c-8d2a-79924ae36f24 CLINVAR:2681127 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 65edd310-a678-4939-8e45-f529bb5b5808 CLINVAR:68468 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5169c00f-3587-420e-b39e-4e16df6380ee CLINVAR:68468 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0900529e-8f3a-4804-8283-7acbec0f3a4b CLINVAR:1335387 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c48f4b90-7770-4d3d-99c3-68c5644179f5 CLINVAR:1335387 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3c1754e-66bc-4bd4-98b8-ec0c59ddff24 CLINVAR:4530667 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d74e401e-beb4-4bae-bdf6-9c7f5ee1a191 CLINVAR:4530667 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d8200fc-de92-4afb-ac1b-ffa1f709b62b CLINVAR:1338800 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f6617c6-df73-4054-94cb-98086e336a4f CLINVAR:1338800 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 304306f9-734e-4913-9d47-63ba4f72d2b5 CLINVAR:523943 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4572927-4ae0-4537-9e19-2032bb037572 CLINVAR:523943 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbe73e89-f486-45ee-9867-f535f6e1e077 CLINVAR:1322184 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69febd01-4bdb-401f-901e-59021f34ea5e CLINVAR:1322184 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b4f46ae-0496-4b98-943f-ebd6eeaa8845 CLINVAR:1120045 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 007c81a6-aa77-423d-a8d9-2d02218dab8d CLINVAR:1120045 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc03dded-d252-433a-b75b-a98d034aef4c CLINVAR:3586583 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36b2d1ea-7517-425e-8483-5ce318a590c6 CLINVAR:3586583 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 29ed3d5d-f3cb-4375-a16a-2b40fd5b69ef CLINVAR:813356 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddacfc5b-2e59-4b09-90e3-908af9f18808 CLINVAR:813356 biolink:associated_with_increased_likelihood_of MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0d79098e-daaa-47d5-a095-f9c1deae9714 CLINVAR:2577219 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe39d260-99cd-4ac5-b4f2-d3e8a63c56e4 CLINVAR:2577219 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f142ed4e-04f7-4579-a05f-f321fb4f3152 CLINVAR:7730 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dffd1803-4fcd-4947-a982-fe5fa8315629 CLINVAR:7730 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2703c1ce-571c-40ef-8075-44462aa2d49a CLINVAR:7737 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e36fbda1-a09f-487e-93fd-3360c74df709 CLINVAR:7737 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2440a6be-e68c-44d2-8994-f7d738a2fab5 CLINVAR:7736 biolink:is_sequence_variant_of NCBIGene:1545 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3acb56ef-4624-4151-844f-d4e0576c6e74 CLINVAR:7736 biolink:causes MONDO:0800472 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efb23aea-95cc-4de1-a323-10c8a9b5186f CLINVAR:40706 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01b1c200-e9a8-4e57-a6d3-47e8cc927153 CLINVAR:40706 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd5cc8bc-0d36-4627-bce4-ca3044c0eadc CLINVAR:636262 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d358ca5-502c-408b-914d-e4cfe0055200 CLINVAR:636262 biolink:associated_with_increased_likelihood_of MONDO:0020297 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3ee92396-3c9c-4a80-9147-ff273703632e CLINVAR:40684 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a018807-af4b-4a75-81b8-1b66a4ac6749 CLINVAR:40684 biolink:causes MONDO:0020297 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3291b01c-a00a-4947-9818-38ebc485bb8a CLINVAR:12872 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fcc8a819-ea13-44fe-94ff-d8893d7841c2 CLINVAR:12872 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f199d40b-c3f1-438e-906b-cc44f55abf2e CLINVAR:40681 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc9e437b-94a3-49ff-b62c-5721fb54d3c0 CLINVAR:40681 biolink:associated_with_increased_likelihood_of MONDO:0020297 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 25207e54-1d02-44a5-bcc5-1bba0de42f45 CLINVAR:40682 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec82355c-493e-4163-a02a-df11cab13873 CLINVAR:40682 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 138eb143-4e95-47a0-a8e2-217cc609e7d2 CLINVAR:40683 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3846b024-0102-4402-8fe5-aabc6d45c288 CLINVAR:40683 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51b72801-d425-43e4-b849-fe276a4265cb CLINVAR:372656 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b06bce0c-7e0d-49ba-9b14-35e57d6dc778 CLINVAR:372656 biolink:associated_with_increased_likelihood_of MONDO:0020297 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5c0faf39-3efe-4a9f-9c6a-d51822bca82b CLINVAR:12871 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9f32df2-e00e-4e84-bb09-64f243daed03 CLINVAR:12871 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9e20be6-f9c3-490d-8bcb-0617ddb4ae1f CLINVAR:40678 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8e9ae52-65d4-497b-8d7f-c888847430ed CLINVAR:40678 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e0374bd-5c26-419f-871d-e05a5fce116e CLINVAR:40662 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10d3ec24-db47-42b7-84f9-02582603b4ad CLINVAR:40662 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16690462-d5d8-4ff8-8a19-acf96833eb6b CLINVAR:45373 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00308a7c-f787-4b8c-b52d-ee47731ca4f9 CLINVAR:45373 biolink:associated_with_increased_likelihood_of MONDO:0020297 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 53602f69-cc62-4d5c-b1e2-ed2290becee9 CLINVAR:40651 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46e2c7bd-7e46-4cff-a615-b5f97295bcc5 CLINVAR:40651 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 153ad093-893f-4d4a-8644-ee1928173435 CLINVAR:40649 biolink:is_sequence_variant_of NCBIGene:6654 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ffc4ea6-aff0-4e7b-82c4-c2c9a04e5206 CLINVAR:40649 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ca80ca3-97e3-49c6-bbff-b0a2b0e43c9c CLINVAR:90494 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6447e904-f177-4eb2-9571-9ee70c64167a CLINVAR:90494 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 74337e52-5ad1-4ab8-bde4-c0c2eea368a1 CLINVAR:90886 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c43465f-427c-4b9d-bacf-8df1f1f333d3 CLINVAR:90886 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 69a63aac-fa92-4190-80db-44fe0fb9bc81 CLINVAR:90918 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61aed55c-2ff1-495a-8e8e-497464266140 CLINVAR:90918 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23bc6a79-8b5d-4661-8f61-6a9c81e80512 CLINVAR:91058 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05edfd81-0b8a-450e-8ba4-397562c8f7b6 CLINVAR:91058 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29bcb497-9f97-4a02-afa1-a4cac25dda21 CLINVAR:91055 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c4e6975-09be-4fcc-869f-6396dce708ac CLINVAR:91055 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76d0b47a-e578-4b97-85c9-75711eb4f2c6 CLINVAR:91068 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abd95b7e-cf93-44b5-b019-712584c99615 CLINVAR:91068 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57fbb874-77ee-4f7d-a2c9-2c469eb8e5dd CLINVAR:91187 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8ee977f-ce30-4248-8c46-e6fd84b002d7 CLINVAR:91187 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b2ff6ff-d2e8-4091-ba2c-e5c960157e63 CLINVAR:91193 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4ed7479-adbe-4ace-9493-7bc76980032e CLINVAR:91193 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bfe95e89-e9b7-4bcc-a0f9-55136a90f918 CLINVAR:91226 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 252ff3c7-735e-41bd-9e9b-b4381f13ff14 CLINVAR:91226 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38dcbd07-418f-4929-8b21-bc61059324e3 CLINVAR:91225 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ff6d58c-50d7-42fc-bb71-b3b8db6965de CLINVAR:91225 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de986a57-8382-4fcb-a51b-9c9c07d67a8a CLINVAR:91257 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5fd4687-3ff8-4300-923c-18c32e782e80 CLINVAR:91257 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78e20693-fa63-4ea0-bba1-aaf1fb6f91df CLINVAR:90546 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43fbf54d-262c-4167-8ebd-7b8bdf7eee3a CLINVAR:90546 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0028d3f-4334-451d-83cf-293fa9da45f4 CLINVAR:90563 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 323d9a5d-be6c-47ac-a159-e6567a649e6d CLINVAR:90563 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db6f6e61-aa02-4dfd-86d7-32abb631941d CLINVAR:90621 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97375213-7f5c-4aba-94bd-d8ceb0d7a37c CLINVAR:90621 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a424d1c0-bf52-45a2-a4a4-c23ff8710bb9 CLINVAR:90639 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b286e0c6-2ad3-4183-b557-78c341b0506e CLINVAR:90639 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 233249d0-aa41-4ff6-b48c-255eb5287577 CLINVAR:90662 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a58de69-f4a5-446e-ada6-9730082999a2 CLINVAR:90662 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2374782a-d3c0-4511-8a74-a112446375a9 CLINVAR:90673 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71d05f8e-0093-4974-b8eb-26d4c515fc2a CLINVAR:90673 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 215f4346-612f-46cf-b2ac-32e65ee33375 CLINVAR:90672 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9ce82c6-64a6-4a10-a3db-9ba049f9c7f9 CLINVAR:90672 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5179d448-2c30-4ea6-a49b-f275346a7eee CLINVAR:90695 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2891312-d93b-437e-bd9a-a554ba27d75b CLINVAR:90695 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1221b1ba-9737-415d-bac5-305b12b29435 CLINVAR:90712 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 309981b2-0df0-4c5d-b50a-78f9c8b1317a CLINVAR:90712 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28b94dfd-f07e-4243-aed2-6e05ea56d379 CLINVAR:90742 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad1dcc74-570d-41e5-8608-601d700f4e0e CLINVAR:90742 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 939c4531-26bb-4434-a6c3-d8468c936801 CLINVAR:90741 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 949d3a93-1a3d-44e3-8bb9-0341a9cb713b CLINVAR:90741 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41c62e79-6710-4d56-a433-d83087340640 CLINVAR:90794 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efb4c2be-d526-4f66-9887-eba7ff4ede55 CLINVAR:90794 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb6eeb05-7832-4cf4-9f66-0d1b995e7c7b CLINVAR:90809 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a97f62fd-0ce7-4eee-b7ad-e1eef3de7820 CLINVAR:90809 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1fcd755f-a0c8-49d0-be33-e220bbb9995c CLINVAR:90806 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13bcfb63-d9ed-4639-b212-8a85a09dfb93 CLINVAR:90806 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10ab964d-9e2b-4583-81e7-5d98c0c91fc8 CLINVAR:90808 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15b2c826-0888-437e-891b-3b6c13f21e81 CLINVAR:90808 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e75ca83-4955-420d-b1ee-464385a32a8b CLINVAR:90871 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9f16c4a-e5da-44e4-9c1e-125978266354 CLINVAR:90871 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 70c18ac3-07ed-4e73-bb65-48d2a4818407 CLINVAR:90894 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21fc3221-77bb-4f28-b3bd-33625290e4fc CLINVAR:90894 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7094469e-b139-4f6e-9c9f-0bfbfa5e22da CLINVAR:90893 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6efb68b1-b7c1-4a64-9276-05048750e59b CLINVAR:90893 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a11c1106-2649-46cc-af02-e80007b44dec CLINVAR:90892 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2e90570-019b-4d2b-a40e-07838ecb72fc CLINVAR:90892 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42d9989c-06ec-4ffe-b9ce-53c46f6cf846 CLINVAR:90939 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bed8842-c817-4f72-9c3f-040a61da11a5 CLINVAR:90939 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b11b2e61-1487-4e5b-a2df-6cdced0422c8 CLINVAR:90945 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87907a80-faec-4532-9754-48497eec2947 CLINVAR:90945 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9913809c-174b-4013-bce1-7a627905d296 CLINVAR:90953 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a7b7329-d984-4636-a560-87a5feddfa73 CLINVAR:90953 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1eea06c-4d81-4765-b0ca-822086e09ab5 CLINVAR:90973 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec317978-ea3f-49f6-a022-9c34bafa9793 CLINVAR:90973 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03e59cf6-a0a5-4304-976d-5f9af8c86c9d CLINVAR:90975 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a8edbdd-68dd-4871-815a-1a6927b9df11 CLINVAR:90975 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0b41a94-6138-4f3d-83d4-6893af8139c9 CLINVAR:91002 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c927b6ea-9d78-431e-b1ba-df1b11b8089f CLINVAR:91002 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35f71b6f-6d6e-4347-b2c3-57256af7b48d CLINVAR:91001 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b24d6c8f-5486-46a4-98a7-66be3b4948b4 CLINVAR:91001 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6fac98f8-3bdc-47c9-b797-8578fbb862c2 CLINVAR:91029 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37916255-1c85-44e3-8437-a60b2b0370e3 CLINVAR:91029 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b34dc658-1192-450b-b1e7-890a76095f2c CLINVAR:1761 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8929aa30-ff82-4cc5-b7e2-649d5ff14168 CLINVAR:1761 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 61cae47a-018e-4d2a-9771-d23136505e6d CLINVAR:91044 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88ce7377-96f5-4f8e-9034-aaa6f59e88fe CLINVAR:91044 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1b0a7214-beee-4e50-87d0-94107f1144c4 CLINVAR:91046 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 057fbb64-85a0-420a-9baa-6283b1e32d80 CLINVAR:91046 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 61150fa4-91da-4ed5-8321-3741c61f1ad2 CLINVAR:91054 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c522250-7e48-467c-9633-eebd612ee55f CLINVAR:91054 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b33afdd-8878-49ee-b509-19ba25fc9eb0 CLINVAR:91060 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c9b6205-a1fc-4854-883c-530c5fd4bb4c CLINVAR:91060 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4e77b5c0-75b7-402d-b643-ab63491aabde CLINVAR:91059 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbd18f6c-83f5-4c06-97b3-9a28af2504bb CLINVAR:91059 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5b1c36a-28a2-4e3f-9b10-2f385bc7d406 CLINVAR:91066 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90ac69c4-2458-4f71-9e2f-4ee7702e427d CLINVAR:91066 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e56081c-50f7-41c5-9c33-07f9bb86a35d CLINVAR:91067 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d3a867b-7437-451a-84cc-7bd350619c4c CLINVAR:91067 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe4bb5fc-8814-4902-923b-62f419d43b65 CLINVAR:91069 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45f3510b-d548-496d-92a2-f8fd385b46ab CLINVAR:91069 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 961e86e8-8291-4bee-b004-a60e7ec1cd52 CLINVAR:91070 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d31fc6d1-7108-4bc8-ac9d-ec795e08657e CLINVAR:91070 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d60a7f0-7d8e-4a98-959c-9b529e10b5e6 CLINVAR:91071 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4522403-aa4c-4f37-96fa-e00e958e942c CLINVAR:91071 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a5d72dd0-f5ce-4a40-a44f-cdb0d51ffbd5 CLINVAR:91079 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9157a0c5-d932-4629-9575-a7a5398e6acd CLINVAR:91079 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7465133-555c-4b68-8116-501a8f51439a CLINVAR:91078 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d60d584-11e5-4575-937d-656741bd5287 CLINVAR:91078 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33b2f780-f47a-4253-9f7b-53bdca8f612f CLINVAR:91077 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57b07162-c64e-4c23-a5c3-4832332947b9 CLINVAR:91077 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5e1ec3a-c4ae-4852-9154-ffa0effc9076 CLINVAR:91076 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06c9b8ca-75b1-45c9-8e9f-151d4fbd786f CLINVAR:91076 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb7cdbe4-152c-42df-9958-ecbd0fef50ea CLINVAR:91075 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34d4f481-af9d-4ad0-9f8c-c77a0ae13d47 CLINVAR:91075 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel df06ccff-3560-4482-a9e8-721ca2ddf11a CLINVAR:91086 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 830d09fd-1ad0-4058-b5c2-a2f7edad3e7c CLINVAR:91086 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e94e948c-767c-41a6-b207-b2d9cbd43c2a CLINVAR:91088 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21c07544-fd27-480a-ab1a-2b2545aa4762 CLINVAR:91088 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdaa04cb-1f47-429d-9d44-eed4f5e4739b CLINVAR:91089 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce712a20-61ec-4e62-835f-2e05a593f72c CLINVAR:91089 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7fc19805-88a6-46af-97d8-203052691fa7 CLINVAR:91090 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 778eb581-c9e5-4d40-8cdd-59e6e47f82eb CLINVAR:91090 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7fe27cac-5bd2-436a-9f42-04db32507bab CLINVAR:91093 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4edcc385-6117-4c5d-9b70-1d224eb72fb0 CLINVAR:91093 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d10a1c4c-6fb2-4954-ac1c-528181a4aef9 CLINVAR:91094 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a899a7e7-2e8e-4c69-858f-aa61b2b9f61d CLINVAR:91094 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc40d54e-15d5-41b4-bd07-8405540a8678 CLINVAR:91095 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c7dec9a-d12e-4902-896d-1a2aad38fdde CLINVAR:91095 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 851fcebd-b439-44a2-93a8-3a6837e7206f CLINVAR:91096 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0db5e259-e2bf-41b2-83c9-74dcd22cca5b CLINVAR:91096 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11a4ddf5-9046-40f6-a17f-62dba559118d CLINVAR:1768 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b184642-1149-4a80-88e2-32fc1efdd931 CLINVAR:1768 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04dd2b5c-3bb9-4dec-9f0b-c86e925eb16f CLINVAR:91102 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65d82b25-4752-40c7-9904-b676e2c61c26 CLINVAR:91102 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4586545-bb20-4d6b-8f89-e6ff84a763d5 CLINVAR:91103 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 053259fc-1ebc-4b62-81c1-c771dcab143d CLINVAR:91103 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6a18177-a7f8-40c8-8228-e6f5a3bc2f72 CLINVAR:91104 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5302f13a-50a7-4740-bf6c-e26f3bbaa0a4 CLINVAR:91104 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 816b877b-5772-408d-adec-03f61cfec928 CLINVAR:91105 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d6bf225-0644-4f27-bdb6-2d3f8cb613b3 CLINVAR:91105 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 926daffc-818d-4efe-9aa9-5648ed1692a7 CLINVAR:91107 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69583158-59b8-4e66-9d2f-236e089e7732 CLINVAR:91107 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 769b11d7-d99e-4ee2-9117-561e0a55039f CLINVAR:91108 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 721e1eb1-2d95-47f7-8a22-9bd9751659dd CLINVAR:91108 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca5bc9a7-3b80-44c2-9a6e-9f02a27afd33 CLINVAR:91109 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b1d437a-397a-425f-adfa-697943ac0dc7 CLINVAR:91109 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36f1421a-4936-4b5b-a6c6-250445bd8c20 CLINVAR:188119 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89367072-1ab6-49ed-a77a-036d7e2afab5 CLINVAR:188119 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 062128f4-42b5-463b-ac56-b786e94cc695 CLINVAR:91111 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1303f10-6ad9-4328-bbd5-07dd70d09bc0 CLINVAR:91111 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 10c77993-2e6e-41f4-a222-4b2703533f5e CLINVAR:91116 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be42802b-8aeb-41ec-b61e-708cd4160c58 CLINVAR:91116 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f8caf853-40ab-4dd2-87ac-c6bc6d7f9d61 CLINVAR:91117 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 649f9be4-1e4f-4666-9a98-9c6971f3b5d1 CLINVAR:91117 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3ae1b3b-bd32-42ed-ae74-c382426c91b8 CLINVAR:91118 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd04a080-69e2-4035-8c1c-33aaa54a525a CLINVAR:91118 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78b87048-fb5c-46e3-9055-66a2d727c66d CLINVAR:91120 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63cab00e-bc7e-40a0-8781-d574c1c00fe8 CLINVAR:91120 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd6fd415-36c4-45ca-9c1d-75fc534f8087 CLINVAR:91123 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc507d3e-ab17-4ef7-b292-db6cfb2952f6 CLINVAR:91123 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf77c2af-1851-48e7-9c8b-34629480c8a0 CLINVAR:91122 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5b860b8-c5fb-4496-ada0-0d8f40b29544 CLINVAR:91122 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2922145-5e20-4779-9c36-7088a0cea005 CLINVAR:91126 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e02145f2-f41e-43b5-a8b8-39b0182dfc41 CLINVAR:91126 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24801fa2-85aa-4748-b955-45a2dccd2226 CLINVAR:91128 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a0f079f-7781-423b-97df-ab789a7b75c7 CLINVAR:91128 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb59d37c-922a-4c75-999f-cd5d9b323efb CLINVAR:91129 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b41e6dda-2bbb-4d24-bf8f-47c8e17a458b CLINVAR:91129 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e54f6da8-315d-4895-b7c6-bbcab207dbcf CLINVAR:91130 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94fd8aa7-bc25-4cb1-a2d8-23b85ca6fc4c CLINVAR:91130 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2425df14-c282-42a2-bb38-d995323838ff CLINVAR:91132 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc70fc63-29ae-4c0a-a57a-7128e8e51158 CLINVAR:91132 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01cb824a-ede4-4082-a498-fbe0bd19e5bb CLINVAR:91136 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef3e7156-bb6e-479b-b379-cccd6f2a89d2 CLINVAR:91136 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 694fc907-f92a-40b5-92bb-4fac8bb76917 CLINVAR:91134 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c028003a-fa9e-4a4c-aad3-848dfa32e079 CLINVAR:91134 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56d349f7-ea34-45ee-b4dd-5493b61a53d0 CLINVAR:91135 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0ce4786-7316-4e1a-b065-0d8d6c646b9e CLINVAR:91135 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2efc9461-5e8d-43fb-9d92-f70d2b28ffed CLINVAR:91139 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d236765d-173a-42d0-b4d4-719ac5ab8556 CLINVAR:91139 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd97592e-8956-4f1a-a14f-cfecc8978797 CLINVAR:91141 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d32ef0c-7511-4c2b-9c24-09899ae3ac5d CLINVAR:91141 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 479fbae2-4ea9-4a87-b0a5-b565ac8209df CLINVAR:91142 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe5075cf-e473-4016-ba39-6e163c993254 CLINVAR:91142 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff0ffa4d-36e7-4f28-9fa4-c9a2c5d43322 CLINVAR:91144 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fab95e8-51d2-46d4-914f-7e3aeac9897d CLINVAR:91144 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a62cdf80-604a-4fdd-8ffa-b4c5cf100098 CLINVAR:91146 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar decba94d-e350-42cc-bec3-67c6400dfc34 CLINVAR:91146 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ba9a282-80fb-487e-b946-4883c758f2b3 CLINVAR:91148 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fae4683-fc2c-4e00-8172-6c097e2fa413 CLINVAR:91148 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f4c433b-09e8-4bd3-adfb-421b791e4213 CLINVAR:91149 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0bce522d-b8d3-4128-a56e-c33084091c0a CLINVAR:91149 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f331ec0-2757-411e-8712-c4502c493a16 CLINVAR:91150 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar faedee73-7286-46bf-b545-fad0847b9e15 CLINVAR:91150 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7c76d07-b4e5-4fc4-affa-4b0a3908684e CLINVAR:91151 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a79aa3c0-f5bc-4e46-9070-af16855c7487 CLINVAR:91151 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d22fc979-9f50-4291-8555-57e14e540917 CLINVAR:91152 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf68b4ba-457c-418e-80b7-a5f2cf8c3786 CLINVAR:91152 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6526352-2962-42c1-8258-53ed5e64a18d CLINVAR:91153 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3fc528ca-13ff-4d74-9f6c-c0e5bfd8df0b CLINVAR:91153 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 509defb4-eda3-41af-b10c-6a8a0dc02b54 CLINVAR:91154 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e48cc15-2b8b-4023-9e86-3f4393d10bb5 CLINVAR:91154 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3df35fa1-17e5-400e-aa35-303145517a69 CLINVAR:91155 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2acff989-aeab-40e8-b47a-2c9703f1db96 CLINVAR:91155 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 476970d3-f0cb-4005-a572-424f7771d8bd CLINVAR:91156 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b78489b-cb9c-4149-879d-27ee64b3d619 CLINVAR:91156 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 535dfe75-ebc4-437d-a837-ea7eb348f122 CLINVAR:91163 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30e8e11d-3b83-4422-829a-140329e5b074 CLINVAR:91163 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0e39a137-072e-4fb1-bdc5-87f31502054a CLINVAR:91162 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a40f451a-5bc8-420d-8b6f-420af3a4608d CLINVAR:91162 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 677f0bd0-0b93-4c76-9eea-a7ade96b2901 CLINVAR:91161 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f451d2d-ddb0-490a-b78a-3e81cf9362aa CLINVAR:91161 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 79ab5e3f-162c-4a8a-b8c8-b54b5cca45c3 CLINVAR:91172 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc909250-ccae-410c-864b-a1cd13f08333 CLINVAR:91172 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dad26483-7a78-4e3f-abd9-8d689ea3cdb6 CLINVAR:91173 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71024449-f188-4a9f-a9d0-619f3c2f60d7 CLINVAR:91173 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aed89119-1afd-4a94-b3c8-d4fc3e9ea4e9 CLINVAR:91175 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae871b06-ccba-4b17-84e2-51d7b0f23e4d CLINVAR:91175 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e382f20b-547b-46e5-ab12-9c0e30c46628 CLINVAR:91178 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 807686d4-9c0d-4b97-a305-28002e6ecde0 CLINVAR:91178 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32edb6be-ab23-4ba3-8360-77665a7a13ff CLINVAR:91177 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0283535d-7769-4b5a-ad4e-809381bd1434 CLINVAR:91177 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e93a194-9324-4570-b025-0d623e285718 CLINVAR:91176 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65873f7b-0173-4cbd-9349-91c70b1196e3 CLINVAR:91176 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12d60953-0675-4391-9b39-4e6b63d65d2f CLINVAR:91179 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6ab3ccb-115d-41c1-882e-a34c7567627c CLINVAR:91179 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1811149-54f8-407a-baa3-cac5ac1fa95f CLINVAR:91180 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1a3d6d9-28d8-40ef-a373-aee680d8b059 CLINVAR:91180 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2167ac8b-fdac-4a79-97f8-f3a289a8ef69 CLINVAR:91183 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13343bfa-20e0-466a-b8a2-9c8092b216af CLINVAR:91183 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 812c5203-eadf-4db3-9bc3-fbf8147d4b84 CLINVAR:91182 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b00a080-df57-40af-af17-a80a4a724c25 CLINVAR:91182 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d9ffa43-9e0b-4ca3-8e56-e800846a485d CLINVAR:91184 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28af1a27-d028-4006-ad1e-b9450c7a55cf CLINVAR:91184 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce692cc5-23ba-48a5-a050-d7230a16c7bf CLINVAR:91185 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f703177-ed71-470b-b38b-3567890727ff CLINVAR:91185 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4898b133-b9e2-45a9-a904-c7dbbf849dc1 CLINVAR:91186 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6212154d-47aa-465b-858c-8ddbb0925103 CLINVAR:91186 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 49942c89-84ef-46a1-88e1-661fe091324f CLINVAR:91188 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 372687f2-2c8c-4fec-83f7-db395d890c1b CLINVAR:91188 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b675a25-6998-4f1f-b2ed-ea19657a2de3 CLINVAR:91190 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 018d9065-5439-4942-83a0-f1f2f52e1754 CLINVAR:91190 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81488396-1d25-47c4-bc32-46c8ebb25b75 CLINVAR:91192 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09c7b859-c914-48de-bdba-e4360cbfaa48 CLINVAR:91192 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88380ef4-8780-46cb-a917-a38a08fa18e8 CLINVAR:91195 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 765a470d-9f92-43f0-9923-1988b2ac5251 CLINVAR:91195 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d497bab-085a-4b20-a42f-3f44e4ef2cdd CLINVAR:91196 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edfaf4c0-59de-40fc-8edc-558223f7c54c CLINVAR:91196 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe9f4ace-a715-41aa-b964-b6b10c5e2d4d CLINVAR:91197 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b182116f-4578-4c9b-b473-7edb32509536 CLINVAR:91197 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e76eceb4-2658-4d17-9d9a-c4592bd1f6de CLINVAR:91198 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9334c1f8-5f64-4dae-aeb2-fb7c52d98b16 CLINVAR:91198 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 269d49ae-b79f-4431-9288-f66c6b391119 CLINVAR:91199 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25f22a9d-55a3-49a1-bdb4-548bdb7855e2 CLINVAR:91199 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b6a9680-d624-40df-b47f-4d5d3f6b5c3a CLINVAR:91201 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ebce6611-3d65-452b-a737-2640f6890c4b CLINVAR:91201 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d08a6b88-c69b-41af-b97d-832eee170531 CLINVAR:91202 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3465bf44-b5cf-479f-b932-dcb209ef19c1 CLINVAR:91202 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a022dda8-b741-4821-a015-b35c95d211a0 CLINVAR:91204 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3dca556-1453-415f-9a9a-d0de495a7feb CLINVAR:91204 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be98b26a-764a-4423-a181-aecd6eba478e CLINVAR:91205 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1dd69656-c055-4beb-955b-cb309f947475 CLINVAR:91205 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1372b73-6bf8-455f-b63c-a0a2864de72f CLINVAR:91207 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6967839-f462-4be9-8fdc-e8e98150ba66 CLINVAR:91207 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 033d53db-3643-4f0e-abf5-4e865fae60fd CLINVAR:91212 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 175923dc-4aa5-427f-8d32-647e69938f18 CLINVAR:91212 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0456e798-3727-40c4-a05f-563cc06321f1 CLINVAR:91210 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7af9a30-7617-4039-9b75-28f7f67f18ca CLINVAR:91210 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3da9ea2b-36fd-42ea-854d-68d65a45903a CLINVAR:91219 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e42f7ba0-426d-4835-a02a-08714273cb75 CLINVAR:91219 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5680ad33-5874-4ced-8091-25aa65b5e186 CLINVAR:91222 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 990422e3-4014-423a-b469-5562edcf34ae CLINVAR:91222 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dac86d92-95b2-4da0-a38e-dc45ab57ad70 CLINVAR:91221 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95d9c4ba-0aa9-4f48-87b5-5028f7da3563 CLINVAR:91221 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7db6a010-b58e-4d10-a174-7b28fa3a8baf CLINVAR:91227 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 097ec20f-1cd2-4d96-8da3-091a40b41250 CLINVAR:91227 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c112f6a0-d9cd-4883-81bd-a77b168f8ecb CLINVAR:91228 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58cfc037-6653-46b5-8030-5d02fdcf3d0b CLINVAR:91228 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9a4f84a-312b-4162-9001-9dbbf11c1afc CLINVAR:91229 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f110933-16d2-4909-a4e4-ae51bc7e9eb8 CLINVAR:91229 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92bc114f-4ab2-40ef-9b4f-b4d404f20431 CLINVAR:91231 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3dff769-db01-4b06-8fa2-1327f08cb457 CLINVAR:91231 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc09aee4-ec2d-4e94-a7d6-683a20bc2272 CLINVAR:91232 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b4d1314-80ab-49ec-9642-29ae8fdee8cf CLINVAR:91232 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36262d69-b54b-4e9b-aa18-584cd467b26b CLINVAR:91233 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5be1e083-b2df-4c49-8ee0-8b7866c0d837 CLINVAR:91233 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92cf531b-7f51-48b8-929a-a608a725de8e CLINVAR:91234 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63277124-205e-4ba4-af74-a7b06f7626b9 CLINVAR:91234 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1817437-9d8e-449f-9189-3913601e6cd0 CLINVAR:91235 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5091cd2e-1463-4229-adf7-7ce751a54f8c CLINVAR:91235 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a588c3f2-9c66-4009-9849-48381087f7b8 CLINVAR:91236 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 122da663-8c22-46b1-90f2-7b2edf918605 CLINVAR:91236 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f4696ff-f30e-41ee-850a-2ba1aee2d5b5 CLINVAR:91237 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79c2c299-1fd6-4135-89c1-18b45911f583 CLINVAR:91237 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00193309-af7d-4a6b-b795-91ae2d3da84e CLINVAR:91238 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da81378e-5ce1-4a48-a24b-b0c852862f51 CLINVAR:91238 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 095b78ad-78a0-46a4-b623-291640e67b1b CLINVAR:91239 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c4fe73f-5d98-448f-a998-bfc4f2b69380 CLINVAR:91239 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7169d35-fd9b-4940-bf6e-01a6e8a7fa92 CLINVAR:91240 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd91080d-7be0-4946-895e-0b572a6dbb00 CLINVAR:91240 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 73334e7c-1931-4f13-8f8a-2490cb6f8fac CLINVAR:91241 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cb2fc03-cd74-45a0-b38a-c11dc8d9a3fb CLINVAR:91241 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ebc753bf-2e64-43c9-97e3-c3a136faa7fd CLINVAR:91242 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 804efce1-73fe-4a4a-a376-4644c00f7b8d CLINVAR:91242 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04bee8c4-76ff-49b0-8e07-afaa20e66d66 CLINVAR:91244 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5444357-f9e2-4358-84f2-f5ccadb9d221 CLINVAR:91244 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 352b5039-be02-42e0-b094-513603469058 CLINVAR:91245 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 408f1709-c4c6-4c82-b099-ef4cab48833c CLINVAR:91245 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f8ce622-d6ac-4b21-8f1e-395d5c6d91e4 CLINVAR:91251 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efa4f566-7ef6-4b58-8f53-7dc23740818c CLINVAR:91251 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1cafbc79-930b-42d7-a6ce-2f6cfa35e574 CLINVAR:91247 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 516f5d5c-2312-4f77-b3ca-cafa93399df8 CLINVAR:91247 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 38bd7291-ebe0-40a1-924f-bec28144e4f9 CLINVAR:91250 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04dddc4a-a77c-44af-bbd3-7411d0b0143f CLINVAR:91250 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bba33e27-2259-4575-b6c3-f45e8d37f028 CLINVAR:91249 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94c603cb-f8e4-4379-91b2-9e97959714d4 CLINVAR:91249 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a1efaa4e-befe-46fa-9cd4-1c2004a3971d CLINVAR:36580 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe946354-dbaf-42e3-9f1e-dee6a9de5f28 CLINVAR:36580 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a500aaf7-1599-4086-b9ea-9d354d822aa6 CLINVAR:91254 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0fa3dd7-6910-402b-97fc-bc747be01d77 CLINVAR:91254 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d4683fc1-d248-406a-8f1a-6f93f50c2216 CLINVAR:91252 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ac783f0-4a7b-4c1f-ba7c-c7ff03e394da CLINVAR:91252 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1de45d16-7667-41bd-a21f-4484b2422af0 CLINVAR:91253 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0238f5a-5076-4c10-bfb3-b3753afaffd2 CLINVAR:91253 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 757a3909-810b-4678-bf8a-d7400452beb1 CLINVAR:91258 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2adbb9a-d988-40cd-be87-8949d7c2dae3 CLINVAR:91258 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5b51f61-c9d3-4942-9f49-8eaa13aa3b06 CLINVAR:91262 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56a05ecb-92c4-478e-bcfa-9922ab71be89 CLINVAR:91262 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a92da63d-edbb-4911-8bd2-d10047221851 CLINVAR:91261 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d306ff05-9dfd-4ec3-81d3-4e049e7637c0 CLINVAR:91261 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4911b9aa-d74a-400a-9482-68fc70427ad7 CLINVAR:91266 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 695d88d6-a5f7-43b5-9ab0-d3d4f5c2a40f CLINVAR:91266 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 840dffc8-f2d6-4031-9c91-b4426f8ca9c5 CLINVAR:91270 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6ab4dda-e0df-454b-a36a-a49627f95089 CLINVAR:91270 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50fd1ccb-b36c-41c4-a175-1f3f46af3797 CLINVAR:91273 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a154f9b-23e6-42a4-94e0-819ef603650c CLINVAR:91273 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52e13c77-261a-4623-91a1-d773346d5b10 CLINVAR:90498 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51f00e7b-faaf-4ae2-ab5c-37f2cc34ddcf CLINVAR:90498 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6813aff-4508-42bd-838a-f9aad62155b7 CLINVAR:90501 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e09dd4a-d627-4c51-8ee3-b739a223b24d CLINVAR:90501 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf94fbe2-4640-43ee-8953-296446fcdac5 CLINVAR:90502 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ae28bfa-e439-440b-9099-606dcbb255bb CLINVAR:90502 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c5bae2e-b1cf-432f-be1a-4675c20235c5 CLINVAR:90504 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99551d87-b90e-4a01-af53-1549f2d775d2 CLINVAR:90504 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98332a16-a360-48cc-9913-9d468349a3e3 CLINVAR:90506 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58310cbb-5fec-4aec-8bad-deca383e0c6b CLINVAR:90506 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa60a5e8-15f8-4a26-8e2a-5c9db67eff90 CLINVAR:90505 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb3a87d9-3617-49eb-9544-8fb071ed3257 CLINVAR:90505 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 741eed1d-1e93-4653-bed2-2f98962124ef CLINVAR:90507 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61babf8e-8f5a-422e-bf7b-485c0d0a0ec3 CLINVAR:90507 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1073900c-0881-4427-bad3-5fdcf8f40af7 CLINVAR:36561 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d46f5539-c34d-4176-a940-ba553f892d59 CLINVAR:36561 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 094d913a-24cc-4763-945f-0bc7e0bfd434 CLINVAR:90509 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76b5ef50-c1f7-4e5b-9793-05b28684d872 CLINVAR:90509 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dde4f17c-580a-4d1d-8bf1-fdb235901559 CLINVAR:90510 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a763a38-b6ae-42ef-bc72-8c976d9d92f2 CLINVAR:90510 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b5a226d-f2bb-44e3-ae78-77806984ec87 CLINVAR:90511 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7809a4b4-c335-4b91-b7c1-8d10fd229370 CLINVAR:90511 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f7d3d26-7d17-48a2-adb9-f0776833086a CLINVAR:90513 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e80b56d8-f896-4cff-9ebd-6fd548ca8c10 CLINVAR:90513 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8077bd5e-47ba-496f-bad2-7bb42f788960 CLINVAR:90514 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c35fdf1-df77-4b5a-b577-767570312dea CLINVAR:90514 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f01a904f-0633-4020-840c-4abc0e9f2646 CLINVAR:561171 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ce63dfd-2085-48a5-920e-49ed6f39f7d7 CLINVAR:561171 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel db3b555d-6003-4715-b45b-1ae4df901be8 CLINVAR:90515 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b97acb6-60b4-4542-aa53-4ca7fe7e56e1 CLINVAR:90515 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 84f3bf56-a871-4cc6-9d23-9daefd4b8252 CLINVAR:90517 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d530f65f-bb86-4eaa-acd3-152e7effa258 CLINVAR:90517 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90be09df-1db9-4083-a6a1-ec455944db4d CLINVAR:90519 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cae6dc2-d8cf-4679-8e2c-bf035010a029 CLINVAR:90519 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 94c8d73b-41b6-463b-b4c0-0c0f56388a38 CLINVAR:90520 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10c7e437-d06c-46c4-a590-f208c133ca15 CLINVAR:90520 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4116dfa7-e1ec-4709-a259-c908aaa9b20e CLINVAR:90527 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81d2bfc4-1aef-453b-8395-0e3c2ffbc16e CLINVAR:90527 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfde021c-0f95-4e18-a969-107705663c6c CLINVAR:90523 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 536779f8-bca5-4590-8f2b-ec8ddf6a06ec CLINVAR:90523 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd8e24fb-6abe-469d-a1f1-90de3cd5e252 CLINVAR:90528 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd0b4e74-34ab-418d-99b4-d08ea53c0d6c CLINVAR:90528 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 786ddf6e-0dbb-49bd-b537-330d633a5298 CLINVAR:90529 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 667e7c26-249e-4b06-8a18-e39bcc616873 CLINVAR:90529 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c1075ff8-071f-4572-8ae8-8a28a575baa5 CLINVAR:90530 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b54323f-9fba-44a7-a8ee-d0b08acea27d CLINVAR:90530 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 35c323ed-eafc-4376-a222-6153611ae237 CLINVAR:90524 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36ca4164-2d24-4f7f-b91d-6ce1b2c6083a CLINVAR:90524 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel deee6fdd-1211-4d4e-bf52-32b195cc9b9f CLINVAR:90525 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fe1b676-6e2e-4c74-bb91-f7413ec0b760 CLINVAR:90525 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a9107c51-d223-4d7c-b2cf-276884f7fd30 CLINVAR:90539 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 453e8397-1f6d-430f-aa48-62c216b71b82 CLINVAR:90539 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6fb62ff4-f40d-4ab3-b7c1-10c33e688255 CLINVAR:90543 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35f4ad09-be0a-4437-b28a-535378067e6f CLINVAR:90543 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16cd6075-e199-4b29-91b5-d120c714f7e7 CLINVAR:90544 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6274a946-9429-472f-8258-fa6b74aaa521 CLINVAR:90544 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1eba745a-d4d4-4a60-b5aa-17761eb22148 CLINVAR:90545 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5471a5b2-260a-4bb2-8bc8-311cb9ab1838 CLINVAR:90545 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fcccb460-9628-4919-9b56-ecbd45f69a17 CLINVAR:90547 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4a48304-6b9e-44ec-a033-d6a798d35cea CLINVAR:90547 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ab991ed-f881-4d1f-8847-c59535ac194e CLINVAR:90548 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f36b3228-42e1-48c4-b8a7-30dcd2faa513 CLINVAR:90548 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67fdf28b-0f72-4ef0-9c9f-e2719b916a49 CLINVAR:90549 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 416f9954-ce8f-4e27-87b4-e25c1c704207 CLINVAR:90549 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3f41f81-2653-4d76-a114-6be2ea148fcc CLINVAR:90550 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3950003d-b805-427b-9477-0ed212c90ee6 CLINVAR:90550 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5cd7e638-ac6e-4a3a-b9aa-24b006ace870 CLINVAR:90551 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2bc5707c-d013-40a7-8615-f8555e386e7e CLINVAR:90551 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5216e2d1-cf3d-49eb-8aeb-b01b78236ff9 CLINVAR:90552 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d155b7f6-361a-4a13-a5e8-b53253a5ea38 CLINVAR:90552 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a02c79b-75e6-412e-8cd8-a8e15772fc83 CLINVAR:90554 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d86e791d-0aa2-402e-b1f7-99c8421288e9 CLINVAR:90554 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51d50072-2b09-4643-a1c3-aa1847d3ef3e CLINVAR:90557 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 091dfa3c-df46-4fc8-8103-b004d3b32ec0 CLINVAR:90557 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9f14b33-ea08-4d3e-aa41-c6abdf7f40ef CLINVAR:90558 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd276592-b91c-4a53-bd51-bc105f49918d CLINVAR:90558 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71390995-1686-4b41-a265-f09d22f0d2de CLINVAR:90559 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7af7a347-2cf5-4c1f-8c7f-c37c5c4b9455 CLINVAR:90559 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2cc6d950-f1a6-4cf4-a83e-4f2eed515386 CLINVAR:90561 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c51fe31-9050-4e6f-9c52-8e586c83f32b CLINVAR:90561 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5edbf522-9cec-4a5d-9f70-1f020cde8183 CLINVAR:90562 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1afee03d-dd7c-40a9-9954-c30f4ab1ac73 CLINVAR:90562 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39015ad7-f73a-445d-884c-e0f2c32cac8f CLINVAR:90564 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54086ce9-f882-411d-a2f3-bbf4ff69d5f5 CLINVAR:90564 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bbb36910-44a1-4863-acba-a59280f17bd9 CLINVAR:90566 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01ece152-be0a-4721-aa30-4730bfd55a86 CLINVAR:90566 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 009d963d-a9ee-47db-a116-67804c045c16 CLINVAR:90565 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d9f35d1-4dbd-431a-8e37-9074ebf8215f CLINVAR:90565 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23558aa8-2a96-4f9b-8aca-21be8ceecfeb CLINVAR:90568 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0dd30e5-6016-4fdd-9b1f-34d5443e623c CLINVAR:90568 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9c10b1d-9efe-48f7-af3e-746b549c92b7 CLINVAR:90567 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ed40f8d-51f7-4d96-9dc7-d4ac6e493572 CLINVAR:90567 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd932d78-f163-4f09-b9ec-716a1489e77d CLINVAR:1755 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69b27f62-c7a4-4b65-9f3d-040476623b44 CLINVAR:1755 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4cdd20d8-8dfa-433b-8e35-5da4cfb39cba CLINVAR:90572 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2724f747-5ccf-44a5-8f29-7e54ccb004bb CLINVAR:90572 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90a44b73-0ea4-4a02-9e57-f42b364bf0d3 CLINVAR:90573 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9a5130a-0d24-49c5-af50-0790aee99e50 CLINVAR:90573 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55dc4ddc-825d-4eca-81cc-d5a5b9e33a99 CLINVAR:90577 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2052c06d-d743-411a-8eb1-85322a61e274 CLINVAR:90577 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c6da539-b47d-49d3-9108-0a46fbfab294 CLINVAR:90580 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7ee22b9-e41b-4ac1-9a00-e8fe6155db85 CLINVAR:90580 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 028bf4f7-aabe-446e-a7cd-e02e5fe5c13f CLINVAR:90581 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca3ffec1-1f19-45d8-bbe1-4f1dcfd21a48 CLINVAR:90581 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 019077c9-a296-46ca-aa6a-eec33029078f CLINVAR:90582 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78f74da5-0a43-43f0-9202-cedee3cd82e3 CLINVAR:90582 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7bb6792c-7fa5-4e6f-8fb9-906e229891d0 CLINVAR:90584 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a92e9bb3-ef4f-4ddc-a3b4-c88b54fe7293 CLINVAR:90584 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8db3280-9c26-4851-9f29-7a52279f1732 CLINVAR:90588 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar feedb049-7674-4a5e-8110-c294d8452b05 CLINVAR:90588 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 753b1c45-1474-4606-8d41-17b08430229b CLINVAR:90587 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3df45f1-f72b-46c4-9883-b0c5ebe14437 CLINVAR:90587 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d631023e-0866-4745-bf18-c963d374899c CLINVAR:90590 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffd1fb47-f075-4d73-aa13-023c268cc5ac CLINVAR:90590 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac11097d-33e5-4677-b773-aea4aee2559e CLINVAR:90591 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b2b311e-2536-4408-9525-b9d9a556f1a8 CLINVAR:90591 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e7e8c4f9-6fd1-4bf5-ac00-e9388e0366f3 CLINVAR:90592 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ca72cd9-35e2-47f1-8d6d-7d0269802257 CLINVAR:90592 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d7770638-e704-40ac-8d01-f8fd22a4e49b CLINVAR:90595 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60a23164-3fe8-4db0-8897-e469bc738829 CLINVAR:90595 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 01759a4f-50b4-429a-861d-de3105c05b8e CLINVAR:427611 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d8f50f4-7732-469f-a7fe-cfacd4a6722b CLINVAR:427611 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be5d8bd9-cf68-40d9-b96e-d0367e9bceac CLINVAR:90606 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e62839c-1fc4-4477-a68e-dab741fb6603 CLINVAR:90606 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d554c36-9f70-4e53-94c2-3554b3427854 CLINVAR:90604 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fea1792-3d2f-4f63-a357-b49b59557ed1 CLINVAR:90604 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6f7b075c-f0c4-45a9-a52a-76c055272e3a CLINVAR:90605 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efdde8dd-997a-4c3f-aabd-53259aef818b CLINVAR:90605 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93bc7991-cf87-4055-8a3c-2bd93f4ff675 CLINVAR:90601 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a3fae15-0fd2-4ace-a52b-a1efbb72709e CLINVAR:90601 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 73416683-291e-4795-a36e-133a93df37e1 CLINVAR:90602 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1165880c-6a87-4c2d-aecb-2d51ed924f76 CLINVAR:90602 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 73793a0a-294e-42e3-b893-4151ec37a6a1 CLINVAR:90616 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c0322e9-1446-4f70-9d92-b1831783bcfb CLINVAR:90616 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4a5601c-c4b5-43eb-8c02-2331e9c0357a CLINVAR:90617 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f3a5f1a-e23c-4c40-a97b-c2cbc011852a CLINVAR:90617 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6377641-3fb9-4ce2-89e5-36039efbd89e CLINVAR:90618 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 050e8570-b34d-4d59-878e-a866575b2e22 CLINVAR:90618 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33928e2e-3558-49f0-815b-a3653ce05333 CLINVAR:90620 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4cdb0df-919b-42a1-8746-ee17771886e5 CLINVAR:90620 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b919c06b-56e9-4f8d-8e01-430aad9eca68 CLINVAR:90624 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca79cef1-2642-419e-b1c1-1b56050b527c CLINVAR:90624 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da9cadb4-1083-459b-b51a-34c5fd303e88 CLINVAR:90625 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e9729fb-3ea5-42f6-9743-eb4ae7bd62df CLINVAR:90625 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aada9525-90aa-4024-9dbe-ecdee1372d8f CLINVAR:90629 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32469c8a-08d1-44f0-8061-87a1558ec544 CLINVAR:90629 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9780516-1f57-4032-9ee1-f4cbd1a10cb1 CLINVAR:90631 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d561af6-b5bd-4057-ab47-8981a8264499 CLINVAR:90631 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c6b15cc-2e20-4278-831d-a7d272567fb2 CLINVAR:90633 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bf6d611-4363-4b89-a505-656ad0fefa9a CLINVAR:90633 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 506370b2-457f-4c1d-88e1-be6a223344dc CLINVAR:90632 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fc74c94-281d-499b-b2e6-75d3f2e1a80d CLINVAR:90632 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c632d28d-e932-4418-965d-69067be7fc41 CLINVAR:90635 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94ad6e6e-4ef1-4357-b8a0-56817619f6e8 CLINVAR:90635 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d61bf742-5229-44cc-a7b7-45ec13dbd5e2 CLINVAR:90636 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61742a68-1c17-4793-8f09-0f2230bb86ea CLINVAR:90636 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e73fc9c7-9400-422f-ac71-2dc458a71bf1 CLINVAR:90638 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f140648e-6b91-414a-8845-7c5017d3283d CLINVAR:90638 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d3e95d4-7b00-4b17-b5f5-8b0b0a72c657 CLINVAR:90640 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40be1c29-e1d4-43e4-9224-14260f15aa88 CLINVAR:90640 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 270669a3-f477-4c17-a476-a167ae9e4624 CLINVAR:90641 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a8ab2e2-d3e9-4dd2-a6fe-7ed0c4a8cef5 CLINVAR:90641 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cfb802e2-f572-4378-a45a-d48824797541 CLINVAR:90642 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a781ce8-f945-4e4e-ade3-a55cb46020b1 CLINVAR:90642 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9f6b1896-f888-42ab-9a82-43d301f8bfac CLINVAR:90643 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d09f240-aaa0-4717-b07b-cc332c99903d CLINVAR:90643 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9e5c1784-385a-4448-9dce-fc3e11859bf2 CLINVAR:90648 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5715135a-cbe0-467b-ba69-7877d53daaba CLINVAR:90648 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22c16fdb-8d3d-41e6-ab56-e96a0f6af888 CLINVAR:90645 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 994c3f42-2dd9-48f8-9c34-ffeb4e6cdc4a CLINVAR:90645 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 31c7a008-795d-4428-8815-9ed2f2c99d20 CLINVAR:90655 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fb29a03-d27d-4114-a2a8-f5c23495ed19 CLINVAR:90655 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6fcb4c8-a723-4318-a3ed-cdda23c0bd7f CLINVAR:90656 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1919ec2a-2363-4755-9aa2-56b1e17f04e9 CLINVAR:90656 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98b49cfe-d57b-4d9c-aa72-41008fa1bebd CLINVAR:90657 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4aec76c9-dfb6-40e9-812f-15d349257f4d CLINVAR:90657 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b00e1b92-96bb-47c2-b0c3-3e2fa108b1a9 CLINVAR:90659 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f0dea64-405f-48d5-90c4-f7c9fa1e6b07 CLINVAR:90659 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b57623d-ff78-4fc0-8a35-d5a18aa0d6b0 CLINVAR:90663 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a4da5af-96e3-4fc1-a6f3-b58857a13236 CLINVAR:90663 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4e59ac1-b066-4c8f-8636-d3408e5891d1 CLINVAR:90666 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 339f2f9f-9929-424a-b27e-6811436767c7 CLINVAR:90666 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 870fa2f8-e73e-4ec8-b0dc-935683647bf6 CLINVAR:90665 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2eb0970-09a1-4295-ae0d-bdc3c7688eb1 CLINVAR:90665 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5a800fc-47b4-4755-ab78-3bccd68cbf91 CLINVAR:90667 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4871a525-18ca-432d-9c25-fd2fbd6b51f2 CLINVAR:90667 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29f95a8c-bd26-4b49-95b5-7ac4224626db CLINVAR:90669 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4db8a0b3-f299-4121-ab3a-b67f5179ee78 CLINVAR:90669 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0915ad60-f48e-4347-afc0-b346aeadd337 CLINVAR:90664 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1375fb89-f146-4acf-bd61-1daf4916f7aa CLINVAR:90664 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c7f1a5d-a7fd-4ba1-822f-b99eb3c75847 CLINVAR:90668 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d16c0a24-73f5-4823-b527-1486cf9907fc CLINVAR:90668 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a48e5881-0a87-4e4e-9e17-f812d28390d8 CLINVAR:90670 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93bfb61b-e4e1-48dc-a19b-210589cd28b7 CLINVAR:90670 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f05f7c4-6ee6-4bf8-a2dd-63557ca8630d CLINVAR:90671 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce4b68a3-87d7-44be-8dee-af7a2d4e5441 CLINVAR:90671 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4fac9153-2498-4d81-8f4a-8fc5715b73f5 CLINVAR:90676 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55d72574-5550-467a-9e54-422833e1a49e CLINVAR:90676 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 017e6376-5bb5-452d-8c92-2d6edc0b0839 CLINVAR:90677 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71a874c9-596e-4bce-97a0-2b971714aec7 CLINVAR:90677 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bfe4976c-aef1-44e3-bea0-966ad7cc7a8b CLINVAR:90678 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db756542-a67d-4858-979a-ff0947b30e9b CLINVAR:90678 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ccd1a221-5168-400c-80e9-9d4ecc668574 CLINVAR:90680 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49e16ec2-fb47-4e48-b3a6-0f19d72ff7fb CLINVAR:90680 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11b20a43-2ca7-44f3-9c63-5c1b0a98b257 CLINVAR:90681 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a94b4e21-5214-4e18-8758-180ead7e3451 CLINVAR:90681 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f799df4a-ad5b-4528-9f59-7238162804f0 CLINVAR:90683 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f20f85f8-f40b-434a-9db8-a6cee412c8ec CLINVAR:90683 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2ac688b-3f5b-4d8f-a1b2-feb0fc70cad0 CLINVAR:90688 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e4e1b96-8d07-41e9-8d15-52ea8338d1c5 CLINVAR:90688 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba77d1ff-8ed4-4dbd-b34b-26ac684ca6b9 CLINVAR:90693 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5e286a1-af96-4f07-a193-311209fc5c2c CLINVAR:90693 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d49a968-af69-43af-85e5-2d43aa00633d CLINVAR:90697 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f331ddc-38cf-4f3e-97b8-12296a3de21d CLINVAR:90697 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a0289f4-9bd9-484f-b584-597e7fe98faa CLINVAR:90696 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee46fa02-cfe3-4f51-aaa6-532b52ae0913 CLINVAR:90696 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f373438e-673e-431c-a119-e87933d1cc72 CLINVAR:90699 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1c6621c-afcd-4763-a6c9-d9e619e609ae CLINVAR:90699 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fd5d4dc-000e-4ac8-89e5-66664d99530a CLINVAR:1759 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3236e519-4ce6-4f2d-8198-6e62d38c23db CLINVAR:1759 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8231e31c-9a4e-4f67-bd9a-0c9982a4b729 CLINVAR:90702 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c268af18-71d3-40d9-ba96-802d153bd2ec CLINVAR:90702 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ea32ab1-00b4-4860-9c27-f484a6d62930 CLINVAR:90703 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c15a8119-ab52-4bab-a22a-d0ae954e5af6 CLINVAR:90703 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5c418ab-f1d9-463e-a4ec-05266cf1d487 CLINVAR:90704 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbea81c4-b0fb-4fb6-a11c-a4a3de5509f2 CLINVAR:90704 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98b55be9-de52-4506-bb9d-8e24e1d4aed0 CLINVAR:90706 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34f20c7d-1fbc-42a3-8621-0fa8680bee63 CLINVAR:90706 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6036514-cf14-4378-9793-e589ac8e281c CLINVAR:90710 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55a0abbc-dc2e-4c5f-9af7-4f41a2af167c CLINVAR:90710 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64d3fe11-6555-47fb-93b7-4f1d09fbfeeb CLINVAR:90711 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18478cbc-7805-4d7d-8b15-628d3dc90170 CLINVAR:90711 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c62ea2e-900a-466d-8f4f-c1e70610e6b6 CLINVAR:90717 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e6eef2a-3195-4f2a-a1dc-822e8b8d93f5 CLINVAR:90717 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a70b12b-ec23-4115-a20c-e1753b309ae8 CLINVAR:90718 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d601259-06c8-44c5-8925-c4d9b76c3eab CLINVAR:90718 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c1206d6-c25d-45aa-87e9-35587f5ec824 CLINVAR:90724 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85c82cfa-4f03-440d-94eb-4a4c01749ca6 CLINVAR:90724 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5506acb-3f71-4442-9331-dc0c3f883034 CLINVAR:90719 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0e3497e-bda7-48b0-ae3e-80952562d7a0 CLINVAR:90719 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eeb80ae0-220f-4dfd-97d8-1bf7058e5992 CLINVAR:90720 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5323eeab-4519-4f75-b617-337ce6e4a838 CLINVAR:90720 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel de579fd2-e20b-43c3-b4e2-d34c3b1d8506 CLINVAR:90729 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0a55622-8bc7-4004-a48f-7754a74c07b1 CLINVAR:90729 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8dd6535-d4eb-4b58-a4e1-ed68f1b856f8 CLINVAR:90728 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f154b4c-bcac-4d46-81f0-424e22be655b CLINVAR:90728 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 967cc641-c293-47ce-b84c-09e2560a1a78 CLINVAR:90727 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2cbd0b2b-bfc2-4499-aa8f-3deec079abab CLINVAR:90727 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c984341-2c9f-4d76-b814-d9f6deeac845 CLINVAR:90736 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1687ff8b-01ad-45d6-936f-387f7526382e CLINVAR:90736 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d94dd8f3-07e7-47ca-8de0-0bb25ae67d57 CLINVAR:90739 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 660f15b0-c32f-417d-b0c0-ca2d5c7246f2 CLINVAR:90739 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa45e3fe-ef15-481f-ad22-dfe73812e5a7 CLINVAR:427602 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0b4969b-ec72-4492-b1fe-d222f860abaa CLINVAR:427602 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 35fbfbc0-cf16-476e-8496-2f336959eec3 CLINVAR:90738 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8dbec3c-03c1-4809-a93d-d4ca482f6cad CLINVAR:90738 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 084a8593-04f3-448b-8ce1-c07f3cc87ac9 CLINVAR:90743 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e19bc210-bb51-43fe-a7c2-cb827acb6d1c CLINVAR:90743 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a349fe9d-ee05-45b7-babc-c3d9870f8913 CLINVAR:90746 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d840beda-da12-42a4-b023-c05c6bb3482b CLINVAR:90746 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65b94306-9404-4f48-9359-89af89e87722 CLINVAR:90748 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53e77ba1-1c00-4dbc-9468-12d94cdf2473 CLINVAR:90748 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97c766b5-cde9-4df6-af9f-f8b29925f3ca CLINVAR:90752 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ab767fb-f09f-4026-9bd2-dd189841b3e4 CLINVAR:90752 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 542c36be-cc91-42d6-a7e2-acae66abcf02 CLINVAR:90751 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 233f600b-d38e-48b3-8a5b-3922737ca095 CLINVAR:90751 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4921341-331c-4bc3-a305-ac8c2524d78a CLINVAR:90756 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d50cd9d-a345-41ea-89fa-591c9d666baf CLINVAR:90756 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c2d4ec9-f0e9-44fc-a763-9a3dab780984 CLINVAR:90755 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2763a3a4-b97f-4651-9f41-63530def7976 CLINVAR:90755 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd75d2a8-4b72-4add-90f9-3d067e79f0a1 CLINVAR:90753 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82e5e7f2-3ac1-460f-a5ba-81b6783fc6ed CLINVAR:90753 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b827622a-73e7-414a-8704-d184ccb255ff CLINVAR:90757 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 170606ef-6abd-4c86-9da2-b0d3f5bc63f4 CLINVAR:90757 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed04e41b-b2df-4407-944b-f4897b2b6997 CLINVAR:36569 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20818d9b-4269-4605-aa9c-84d42561dda8 CLINVAR:36569 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43b8ffc6-6dd3-43bb-a363-159f6257f943 CLINVAR:90758 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70982ce3-ee40-44f4-8c1f-63119c719c3c CLINVAR:90758 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5686656f-2a43-41c0-beba-f99d89775423 CLINVAR:90759 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d29a55e-a301-44df-8730-f602b630ec7f CLINVAR:90759 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c801086-7ba8-48a2-9bd7-bb52b7730074 CLINVAR:90761 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55e7d12f-656f-4edf-9d3e-0ec86776dca2 CLINVAR:90761 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f710aa78-b6d0-416e-b80d-77c1877e46ff CLINVAR:90760 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b37094a-39ce-4706-8599-d40f37118943 CLINVAR:90760 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b7f965e-3b47-4e75-8d68-5b9421077572 CLINVAR:90763 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bcd1edf6-b1a4-42de-bf69-8823412e3ef8 CLINVAR:90763 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff9801f4-7938-4b08-a9c8-cbcd4b8fc702 CLINVAR:90771 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5d7d8e3-419a-4996-8dbf-324d078ca186 CLINVAR:90771 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ab88d00-83ad-4283-b8c2-9bd91ea09e3d CLINVAR:90766 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb28282a-960e-45ef-8221-bf8f22c0bb24 CLINVAR:90766 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ac0c0537-155f-4a0b-8a19-3a25a4e0e34e CLINVAR:90767 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5be0bde-24af-49c1-83f5-da2f90a7cf8d CLINVAR:90767 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac45b1a4-bb6c-4049-94f1-ad7e4792d755 CLINVAR:90768 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84c0d23f-39f3-4e41-b5bf-39e791c4b947 CLINVAR:90768 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 117c15bd-6f4c-4efe-bb80-844bed613220 CLINVAR:90769 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa449765-06be-4784-95af-5aff8caa4854 CLINVAR:90769 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23023c30-7a0d-4331-9850-2a02d1dda387 CLINVAR:90774 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfe40ea4-86ee-4565-9e30-db6c33ba628d CLINVAR:90774 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7be7bb1b-475b-4e82-926d-ad199fc4b8e5 CLINVAR:90779 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0177c1db-e392-4224-bee4-0bc15da0940f CLINVAR:90779 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a836f6a-6f16-47d8-9fe4-43d6551da0c0 CLINVAR:90773 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3fab4c54-0464-4d70-8469-06cf2c39f324 CLINVAR:90773 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 08fe6c25-8b85-4eba-a1f7-d76271781b81 CLINVAR:90780 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee604165-1113-4979-8cca-948eda7d8ef7 CLINVAR:90780 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 427767bd-2a96-4bfa-bf24-3482c34d7267 CLINVAR:90781 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2577304-873d-401a-8d71-42994a81431e CLINVAR:90781 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d33f6d1e-49b3-4ed4-a581-845a04487952 CLINVAR:90784 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5052c603-75b4-4d97-8fd0-a5e74ffe9a24 CLINVAR:90784 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b49ab72-fc70-438f-8968-323990c59123 CLINVAR:90783 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1f79091-af6f-4edf-8d16-3aae4cce3b42 CLINVAR:90783 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da2a8544-3e8e-448c-ad1f-21359dd3de05 CLINVAR:90785 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e1c9cbe-8a15-4656-a9bf-8db5f8bf5838 CLINVAR:90785 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 80eaaf53-d13f-4a98-9619-9282a4efac8b CLINVAR:90787 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01d97744-f1a8-406a-a1dd-295db181e762 CLINVAR:90787 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63fcfd85-780c-4d2d-a649-8dbcce62ea20 CLINVAR:1757 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2ab77db-41d2-457b-8fa1-b6f93232b35a CLINVAR:1757 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7da3260c-4bef-4422-966a-0bba895cb312 CLINVAR:90788 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0084b5d-c5da-44fd-84ad-6df1e3a43da0 CLINVAR:90788 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 349aafbc-6861-4ccf-8815-8fec3337ce8a CLINVAR:1758 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6aa3b198-767f-4abb-9c23-adf572ff0f36 CLINVAR:1758 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b535a3ac-cba0-455f-a06d-a5b2a56b059f CLINVAR:90791 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cab668c3-4d4b-41c5-bb50-4468188804d8 CLINVAR:90791 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4317b0b3-e71e-4f75-b480-ad04c317cabf CLINVAR:90792 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 527f40a0-adde-43f8-b041-523358b30354 CLINVAR:90792 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af7d5d56-49ee-4c47-95d3-89853b05ea11 CLINVAR:90796 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2e3c5be-5c7f-4aac-b338-669f01e3dc27 CLINVAR:90796 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9cc3ff91-9864-44bd-8943-b53c85186b90 CLINVAR:90799 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce01d9fe-bff0-4d3e-b0aa-a77ef7f454b8 CLINVAR:90799 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe883f1e-e99f-4a0a-9611-17aac156dba8 CLINVAR:90800 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b858fa3d-a6ed-4a59-8290-afd2ad8e7985 CLINVAR:90800 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78af1523-f3d7-4961-bcf5-406b0bfe10e8 CLINVAR:90803 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fcbe637d-1284-452d-bdc0-bcc460a2d393 CLINVAR:90803 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6fd9438a-7ee1-412f-98ec-5ef873be7a5f CLINVAR:90802 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88ab4c43-a2ba-4bd3-a43c-7cbf29604296 CLINVAR:90802 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6fa200cc-4d89-47ee-a736-e38d6ad45364 CLINVAR:90804 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5e487f1-a4ca-431c-bbad-0d05f67f4f9c CLINVAR:90804 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6e470ad-d63b-4818-95d1-17aec3f72813 CLINVAR:1753 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca3dda90-4d48-4b0e-890c-52ed89b3aa03 CLINVAR:1753 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 541e6456-0db1-46eb-83f3-836573a4de36 CLINVAR:90811 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fede67f3-3603-4ff6-923b-311753747135 CLINVAR:90811 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bcdaffad-dde0-4749-8ec7-0c3ed63dd34b CLINVAR:90813 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6e39be7-ce69-4308-b532-d4ea1c58b50c CLINVAR:90813 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ffe9ebe9-5413-4b86-ba01-5a084b680feb CLINVAR:90814 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 325c3ee8-0f63-4148-b5dd-b6d8068b3567 CLINVAR:90814 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58cb0257-c788-4ebb-81ed-b76e7b8eed09 CLINVAR:1764 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ff0e277-7629-4b15-85a6-348415a9a41b CLINVAR:1764 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b55de9c-eafb-4c91-8777-e0fd379abb66 CLINVAR:90816 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c2794ac-49ee-410d-93bf-db12048b1d1d CLINVAR:90816 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6f115d5-c368-4292-aa24-4d4c69b1ab54 CLINVAR:1756 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4a93050-7ed9-419a-95af-a2f5bb878919 CLINVAR:1756 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 948de27e-a37c-414c-9ee6-843cbe176979 CLINVAR:90821 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec17a08c-cfba-4256-b2a3-f0a790d36df5 CLINVAR:90821 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97f17474-35e3-453b-8ff7-0d3179cbc1f8 CLINVAR:90823 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e48f1f4f-64ec-487b-9856-f46493c3f250 CLINVAR:90823 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ef75239b-aace-4a95-9862-554bf01d7484 CLINVAR:90824 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3eb9c45c-cd88-4b78-b0be-67a0f7bf038e CLINVAR:90824 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 684a6667-0cf2-4f75-bccc-bce664eee101 CLINVAR:90825 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b0344cb-e385-4458-8c19-3aee6a2f0396 CLINVAR:90825 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b50e95b1-25cf-4342-998c-61ff71d27039 CLINVAR:90826 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02c7702d-79a9-4d16-8b67-a306935e3958 CLINVAR:90826 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf72f056-8195-4047-9ca8-3becbf8adb3f CLINVAR:427603 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c63bfb8-49fd-44ff-a78c-e313c1505d7b CLINVAR:427603 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4075bfe0-423d-43d3-af36-0abbbda7c8eb CLINVAR:90827 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 827d503f-5414-476d-a701-36bd08b52629 CLINVAR:90827 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50550eb8-af99-4e58-9c65-136624ad3a11 CLINVAR:90828 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06231213-22f5-46d8-96e4-5dd93400c95d CLINVAR:90828 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c02e691b-f280-46ea-b821-821d2e9d3c9f CLINVAR:90829 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d5fb128-2be3-4e34-9f9c-abe634c0d1ae CLINVAR:90829 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35a4e89b-0b89-41d8-a78a-6675c15ab7eb CLINVAR:90830 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c60d0ec-b6f5-46e2-8e47-b3192874d80b CLINVAR:90830 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel baf29f35-410a-4f7b-a55a-24e540a2e04e CLINVAR:90831 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 624d9082-b212-45ce-a646-cbd678276f7c CLINVAR:90831 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6106997-abc3-47a9-957b-a9de654d6ca4 CLINVAR:90840 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b05dc76f-3ab4-49ae-a8af-f77bc5c05419 CLINVAR:90840 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3f472579-4b85-445b-ac89-54161228ec12 CLINVAR:90835 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b5a608a-7291-4f21-8ec0-8a11e588d8cc CLINVAR:90835 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b4c0c88e-6a97-423e-bc1d-7bf1c82063a9 CLINVAR:90836 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b55f9c9a-1e81-4103-b511-2d67a4fa4d30 CLINVAR:90836 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1526153b-1afb-42dd-b2ee-69207852e5d7 CLINVAR:90837 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0140554-8328-4460-8a03-a322567b7fbe CLINVAR:90837 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 187d53c7-7e73-41e0-88d0-e7a4ebe8be5b CLINVAR:90841 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f641159-68c6-47e8-add6-015e59fb261b CLINVAR:90841 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 351c5c3b-12c1-4d03-b129-80c5b231fcd1 CLINVAR:90839 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d558a223-391a-4b11-b529-6e328cf02172 CLINVAR:90839 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6881ed91-4fcd-4758-918a-c11487a7533f CLINVAR:90847 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0f4e476-1b42-4ad1-8b28-2960c09b27a9 CLINVAR:90847 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9364018a-e629-4a61-b3ba-2622145ec449 CLINVAR:90845 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9e6b137-47a6-42a7-88a7-b0bd18ffc167 CLINVAR:90845 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 836902bc-da91-4d4c-9b89-a5d275ff3ee5 CLINVAR:90854 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bcbd7932-53f5-4280-ab77-b13740478ee9 CLINVAR:90854 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba2cf16d-7adc-4ec3-af29-f171ed20775f CLINVAR:90856 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3426710c-e3ff-4203-a154-24c43ac0a673 CLINVAR:90856 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c93ce26a-dbc6-44ad-8097-9f26c90e854e CLINVAR:90859 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 685255ec-38ed-4978-b094-b60076da3a2a CLINVAR:90859 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1424897f-d3f7-414a-b769-61c3efbbbbb1 CLINVAR:90860 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be215429-6854-4ffa-8b74-86a7155bbf88 CLINVAR:90860 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 27db70cb-34d8-4993-a8dc-7f22be6a5857 CLINVAR:90862 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c5e809e-774f-4e26-aea5-b2bc8d28488e CLINVAR:90862 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e1c876e-3f01-4eda-9c56-6c2d155d7dd5 CLINVAR:90861 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c05fb537-cc35-4351-9c3d-5058471c8d3b CLINVAR:90861 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel be6ed1bf-4eed-4f95-8c45-eedf0ed2e0e3 CLINVAR:90865 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 464abb7a-aeff-4dd5-a8e8-9f67cce17e57 CLINVAR:90865 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aaf0e103-7721-457f-8bff-b086d4b72d71 CLINVAR:36572 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 491adc52-61c3-4a82-83d4-ad86c240f83f CLINVAR:36572 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4b329f4-dea2-4bba-aab7-d34c13e5798a CLINVAR:90867 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 217235d6-76c0-4b6f-b6bd-bb5955607837 CLINVAR:90867 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbd31088-fa75-4b1e-8b0c-a09fb087a86a CLINVAR:90868 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80b6b6d6-756c-4043-bc3e-19d18799dbb5 CLINVAR:90868 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2d66134-55f4-4fbf-99eb-e21c872ef8bc CLINVAR:90870 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c7a853e-d7cc-4967-9ced-bd9cef7e9433 CLINVAR:90870 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eeca6e7a-187c-493a-95a6-d4004183f672 CLINVAR:90874 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cd3dda3-8186-4b64-8b50-18c03f5501d9 CLINVAR:90874 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8993d993-8e0b-45f1-af7b-debfebda3784 CLINVAR:90877 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77568898-1bb2-4c29-a336-5a58f4dd5d2d CLINVAR:90877 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5da01d5e-7fb4-4f48-9165-630c7917833a CLINVAR:90879 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48d2cd86-1c95-4ec9-9901-954f8d29a9ed CLINVAR:90879 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56caebbd-eafd-4e6a-b336-15377be869ae CLINVAR:90878 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a1baa6f-824a-4016-830a-d5c08abcfcae CLINVAR:90878 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 12248770-ecde-4480-ac53-4e7f50f14269 CLINVAR:90880 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a43d02c-3626-4763-8376-052928d36a77 CLINVAR:90880 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 23b8273a-bfa1-4ec5-b74b-a8c7f5808dee CLINVAR:633496 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79ebfc02-aaff-47db-a838-8c0b16702d0e CLINVAR:633496 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1d5cd61-1fc5-455c-90bf-db3ae2ed7e07 CLINVAR:90881 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50933e16-22c5-4351-9151-183d1fbb35c5 CLINVAR:90881 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d3b5dc0-f288-4e16-8235-d3d61139263c CLINVAR:90882 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12488e6c-7fb2-4c08-9e02-177f300cf76b CLINVAR:90882 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37881706-768a-4755-b071-28d28daefa46 CLINVAR:187518 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9b1aa07-208c-42c0-9235-c75d12f73d39 CLINVAR:187518 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b2819612-7142-4e6b-8b38-339b8a2558b9 CLINVAR:90883 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcd67b74-e75f-4ef3-b72b-5bf5ddb56fa2 CLINVAR:90883 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed7a8b4d-49dc-428a-a44a-5f01612a384c CLINVAR:90884 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb1ef819-b541-4f45-b6b9-1eecf2647fb8 CLINVAR:90884 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86a9aaa6-7e3a-4d17-aeb3-5f6354bdf674 CLINVAR:90885 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d05667f3-1698-44ec-9e1e-35a5cb7d2b3c CLINVAR:90885 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1770099c-3174-4fe4-805d-285cfd2e9d81 CLINVAR:1760 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d1aec89-45a2-4151-a3c1-1bb55172d113 CLINVAR:1760 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8577dfa7-dc7c-4447-a48c-cfbb5215bbf1 CLINVAR:90903 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4359f59-341a-48ff-8469-46d68d38c805 CLINVAR:90903 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f22b64c-a6cd-40b6-9859-06878fd69f18 CLINVAR:90904 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f11aa14-e84c-41a8-930e-c4f54a49dc01 CLINVAR:90904 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74b50002-d75f-4f19-87f8-90c466acf35c CLINVAR:90908 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b844332-c960-4f05-95b1-d9b85dccb741 CLINVAR:90908 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 709df48d-8031-4751-b1da-e884f2ac5c1c CLINVAR:90909 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5bff0e02-82f4-4b47-b390-c770acb507d8 CLINVAR:90909 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b825ba22-24df-46ac-8013-a2c1df9ebf5d CLINVAR:90911 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3356eb76-3197-4b09-bc7b-f8834339b9c6 CLINVAR:90911 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9fce4be-969d-4441-9e69-cf903c4f7676 CLINVAR:90912 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e429278-dd41-4a1c-a981-73085429545f CLINVAR:90912 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca761a32-7332-4267-8a40-2cb9967e1e74 CLINVAR:90915 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d72c1e3e-e9ce-4f59-bac4-842f4944006a CLINVAR:90915 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4cb4445-3a2a-4138-a38b-531d1c664fcb CLINVAR:90919 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c73d8b53-0f52-4f83-8fa2-c4f4490d07ac CLINVAR:90919 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ba2cb9a-1a75-4c78-92da-9306e5c79b6d CLINVAR:90921 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d56bc40-8288-4824-b8c1-3e2387fb066a CLINVAR:90921 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b6c8a738-7b52-431b-8736-78162a294562 CLINVAR:90922 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6360802-7b99-4d16-a534-c1f125223d40 CLINVAR:90922 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0bae26b7-f78c-4626-87c6-5ae4c37cac7d CLINVAR:90920 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9efd5859-4bab-406f-8cc6-f1d7ee1c642c CLINVAR:90920 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9cc43d07-66e7-4b33-919c-c76a677db0f2 CLINVAR:90929 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e899bdc9-000f-4621-aafb-85aa06485713 CLINVAR:90929 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6deeb9e6-6708-45c6-b430-e5beea787e10 CLINVAR:90930 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e1d30eb-f0ae-4e4b-bf12-a3d8f10971e1 CLINVAR:90930 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7e884727-d471-4d44-9051-9d2e84bcfb49 CLINVAR:90928 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8448573-613b-45b7-b1bc-0afdf07bb87a CLINVAR:90928 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d3865b84-c492-40d1-bd8f-59a42c710e06 CLINVAR:90934 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20c42ed6-08e5-4c3a-820d-ce8ff800efaf CLINVAR:90934 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6a6cbb9-f38f-4bd3-9cb4-457c2649a621 CLINVAR:90932 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abf9d8ac-786d-4ac5-a323-dd4d6ded9e1c CLINVAR:90932 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b27c892e-ddb5-4ccf-9a47-033a6e0a837c CLINVAR:90933 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 761a96d5-821f-4f49-ac92-30eb72fd7b13 CLINVAR:90933 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b541ffc-0bf6-4fd4-8d8f-39e60d8f5f3e CLINVAR:90935 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8a29d63-24bf-4c65-8b54-cf43e9cd0235 CLINVAR:90935 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 558b9a24-e3ad-4044-b4a1-5ca246f52fe8 CLINVAR:90938 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3aef7e1-57fd-4b8b-a86c-4ea4760fff94 CLINVAR:90938 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a075a136-0685-486c-b62a-6c45142de139 CLINVAR:90940 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08ec438c-70c6-4355-adc0-4ae99a04cf84 CLINVAR:90940 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c8bfab9-7197-4258-b17f-91c77b390c9b CLINVAR:90942 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7e1ab55-29df-4572-b6b5-ad03b61524a5 CLINVAR:90942 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 706bf259-6328-42df-b2ed-5886ebbe4d83 CLINVAR:90943 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0c34fec-4c69-49f4-8fec-497e36715e58 CLINVAR:90943 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ce58fd3-8b4e-4108-9c83-141a473caadf CLINVAR:439192 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f729a16-c02a-4396-b0b4-4eda57964690 CLINVAR:439192 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel beacde04-ca17-48f3-bf47-a0f9de13d11c CLINVAR:90944 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07c4962b-2d37-493e-abf9-1fab5959f73d CLINVAR:90944 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d72fd939-db69-4b95-a4cc-dec875db5e12 CLINVAR:90946 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a05f5f6f-77f2-4027-a0f7-0f84d44e5c85 CLINVAR:90946 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e0e001b-2be9-4377-9d46-f27e05afed43 CLINVAR:90947 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e8c5c6d-0be1-4a6c-8dd6-c236ae57b022 CLINVAR:90947 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 30a39192-28b1-4cac-b81d-f7384e75ca3f CLINVAR:90948 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 129b5012-2d53-4fbc-81ba-98dbe5cee66a CLINVAR:90948 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93df4335-9a6a-4c56-9dca-e64cd2295f34 CLINVAR:90949 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1c5d1ff-ecdc-4d5a-8221-e43f98978e86 CLINVAR:90949 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ed08586-28ba-42eb-8485-f777e9bb4b99 CLINVAR:90951 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0799addf-75d6-43de-848c-8098dc711b1e CLINVAR:90951 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4ebcd98-fa46-4da8-acfc-cd228da865f5 CLINVAR:90952 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4643db1f-a14c-465e-bb48-c0738931455d CLINVAR:90952 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e68781a-9e56-45b0-9baa-2c3fb293bbc8 CLINVAR:90954 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbf7ce1a-910f-49d7-89db-ca401ea0c6f4 CLINVAR:90954 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fbfb3a6-1c16-47b2-a4fd-598648ea5f8d CLINVAR:90956 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b33aabf4-869f-4d54-b27a-2d1a4a71b089 CLINVAR:90956 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6b56065-195b-4cbd-993f-e639cacf8239 CLINVAR:90957 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c333d482-1f02-4dde-89f1-9d666555f981 CLINVAR:90957 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a9f6b99-bdbd-40fd-bd39-df0385199b20 CLINVAR:90959 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73f5d9ef-2fb1-41ce-a52b-1a97e0e2e27e CLINVAR:90959 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc7f5b80-c83d-4c29-9263-2e59758c23e5 CLINVAR:90961 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76f9e13e-0242-4bb6-9899-1690abfb12ca CLINVAR:90961 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2a53714-8e3d-44a8-a993-8d941a6d3a11 CLINVAR:90960 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4eccdf0c-aa9a-40a7-ba44-38586ff3762a CLINVAR:90960 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ac6e1d9-6d64-403f-96ca-65b1857a6328 CLINVAR:90962 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ef79567-5bac-43a9-ad10-85420b796e89 CLINVAR:90962 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5f50fec-384d-46ec-af87-0e15055f55da CLINVAR:90963 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01545798-ec24-4da2-8d4a-12f4997cb70c CLINVAR:90963 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efa24c34-5108-443f-aa8e-f6f2c51c3003 CLINVAR:90966 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8708ceb-c832-4ced-bec4-fdc84b7316e6 CLINVAR:90966 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96530cdf-b120-4b92-ab0c-3c9648094ecf CLINVAR:90967 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e07b55cc-6ecc-4e88-9ace-fa9b0bdc5cd3 CLINVAR:90967 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f963a62-48cf-456d-b82e-5b76963a50db CLINVAR:90969 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a8e51ae-b400-4f4d-94f6-df7703ea7d70 CLINVAR:90969 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4825b505-9dd1-425c-af8c-d9a428317a3e CLINVAR:90970 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7c7f3b7-a943-429a-b25a-0f9a7dee0b28 CLINVAR:90970 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ffaa3d7a-6665-42a1-a49b-ea4da76c47da CLINVAR:90971 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b00763c3-f0c8-48aa-a1b8-e637e6a186f4 CLINVAR:90971 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7887877-81be-41be-acda-59da1f39109c CLINVAR:90974 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92f4ad35-c6da-41a1-9f02-969ddab3d400 CLINVAR:90974 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a98c69e7-bf54-46be-8ff3-9384b3727a62 CLINVAR:90976 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47d38ab8-23ed-4f1d-89b5-0a8da6e795d1 CLINVAR:90976 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fd7bb176-29ae-4da0-a816-c57879a55907 CLINVAR:90981 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db3b0b90-4abc-4abc-86f4-1e831c4f9938 CLINVAR:90981 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bad22a37-8e56-479f-a3bf-773b6bb14f46 CLINVAR:90983 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90cefdd7-0732-428b-970c-d573b545ea8f CLINVAR:90983 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 769bc0c9-a9af-4812-a20d-adbd86a768de CLINVAR:90984 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f61d29bc-a7f7-42f6-a8d9-27d4a433ff84 CLINVAR:90984 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f629e050-b1cd-4c67-a0f9-4c9ba8663162 CLINVAR:90985 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4748016d-59cf-4fbd-b4ac-97fea1d37d25 CLINVAR:90985 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7367e8d6-06c8-47d9-a397-b8ab4686ca88 CLINVAR:90987 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b24bfedc-8eed-43c8-86b5-909962f9b90b CLINVAR:90987 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0be50ee7-6e8d-4bd5-9dde-c9bfd1e0a22d CLINVAR:90989 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51c92538-3c69-4874-93b5-c3fbc6c9d122 CLINVAR:90989 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f6a01b7-3f86-42a1-8703-40f3cc50bfab CLINVAR:90992 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f72097d-0e3a-41c1-abd5-f61130d4fa2f CLINVAR:90992 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98e82eaf-4748-46d4-bb95-98f231fac6de CLINVAR:90993 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 318419b7-09ed-4d27-8a67-46dc87bbb285 CLINVAR:90993 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5ed6cad-58f3-4d3d-96ae-d6b735d2b66d CLINVAR:90994 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 806ce3dd-7137-4273-a6d2-911b9c552025 CLINVAR:90994 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6797d54d-6155-4abc-aaa0-504f10a24918 CLINVAR:90996 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44107c19-95ca-41b6-945f-db055fbaab62 CLINVAR:90996 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e74ef980-7e83-4f61-96aa-ec7099be6e5f CLINVAR:90997 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6085419-a4af-41a0-81fc-e68fd6380553 CLINVAR:90997 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ba9f6c8-22dc-41eb-862f-3c2fe8405e75 CLINVAR:91004 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f2c8cf0-7a23-4058-a558-113ad83d33b2 CLINVAR:91004 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18b5e04a-dbfb-4a24-a651-ab2351862e5b CLINVAR:91005 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7d2a6b0-2d0b-4cb9-bd3e-c011ab2fc0f8 CLINVAR:91005 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0aee37a1-f879-4d83-a63b-1643818792d3 CLINVAR:91007 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5934b085-4012-43a5-b1d8-9e6ca3965765 CLINVAR:91007 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a569b61c-dd6e-48b6-8069-738505a0f35a CLINVAR:91009 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8b5323d-fd52-4cbc-801f-63b6de3bf1f0 CLINVAR:91009 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 579c44e6-f361-4ae5-a515-8cabd053cb43 CLINVAR:91014 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e2217e5-7d8a-484f-a27b-a2829a204d6a CLINVAR:91014 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4265eaab-b03e-42da-b5ee-f0bee0c0cadc CLINVAR:91015 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b35df77a-18df-45a0-b11f-18b1d2c04340 CLINVAR:91015 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1904e0b-ba94-4c8c-bb03-8136638fd6ed CLINVAR:91021 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bad76b6-1c8c-4e42-9117-1d35c04bee60 CLINVAR:91021 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 322725b4-2715-4ca5-87b0-a7717d461ebb CLINVAR:91016 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fed92b0-9105-42c0-9aeb-622a7afb786c CLINVAR:91016 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 43aa2ea7-865d-42b0-819c-de27b04ddf73 CLINVAR:91017 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22939545-87c3-461a-8904-b55f7a7ae9dd CLINVAR:91017 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6cf128f3-156a-48ea-860b-5b2223d93998 CLINVAR:91019 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef3ff7cd-0b1d-475e-a907-6e66d76dd318 CLINVAR:91019 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7002b754-f5fe-4de6-9233-65aae48b2c15 CLINVAR:561173 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2522804-c2e2-4f61-b79b-702f480af6f1 CLINVAR:561173 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b659f1d4-8df5-44ac-83e3-7187e58365ec CLINVAR:91023 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0348bac8-1ed4-4f65-af19-0fb01a3af6fa CLINVAR:91023 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5cb0bdb2-39fa-4b2f-9685-8c2c26e4345b CLINVAR:91028 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cf28ec2-a0e6-4c21-ad4b-48da0915224f CLINVAR:91028 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 629eb3bb-f07e-48c5-a78e-aa9a1c16dab3 CLINVAR:91031 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7e210b3-03f2-4134-9b85-b9426bed07b8 CLINVAR:91031 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 918a895f-2510-4cc0-a199-d59ba59ba111 CLINVAR:91030 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19d71976-613e-4402-92d1-14defe5e97f9 CLINVAR:91030 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7014e9e-45d0-4d7e-99ec-d50dfece182b CLINVAR:91033 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c1376e4-e635-4c25-b73f-45df17eb35eb CLINVAR:91033 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfe3a9b6-d0df-4539-8fb2-9600cf4aeb49 CLINVAR:91035 biolink:is_sequence_variant_of NCBIGene:4436 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b85c1cf-46cc-48fe-a4c3-9cb5b4260f53 CLINVAR:91035 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 400c60f9-edca-487e-b111-057e78d531eb CLINVAR:232954 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2affd76f-d92c-42a8-8228-bfddb820bbe3 CLINVAR:232954 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1df663aa-c134-4e75-8bfe-439d7ee5f7bd CLINVAR:89519 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8695a172-7bc2-43a3-803a-a1aee491e450 CLINVAR:89519 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1dd34ea6-58e8-4900-a87d-32f46fa8685a CLINVAR:89524 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7c29b45-edf1-46a8-a422-eb731881fceb CLINVAR:89524 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d18d16a6-b6e3-4654-b1fa-6faa3276748b CLINVAR:89531 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf12bbf5-4717-4444-9d69-acd954737942 CLINVAR:89531 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 16255b34-f33a-45a9-83f0-807bba18757d CLINVAR:89534 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c57a2cb8-ed74-43e1-8ba7-aee9bc3b3879 CLINVAR:89534 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ca09c6a-0e3a-4490-9c61-b59f0c1eb0c5 CLINVAR:89537 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 187ba0bc-2d8b-40a2-9b5a-8fbe4f007f89 CLINVAR:89537 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc3d9e1e-1bd9-4931-be6b-a6b6d039b1c7 CLINVAR:89539 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddb3ee1c-9f80-405a-b1d3-28b188d36848 CLINVAR:89539 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 609c1638-29cf-498a-8417-c6bc8990f205 CLINVAR:89546 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 695c2862-8422-4184-85e3-b9f1ffe52e96 CLINVAR:89546 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39b35ec1-58e0-4018-ae64-f5a7b9d06b35 CLINVAR:89547 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d17d240a-c054-4675-9983-1876a1659141 CLINVAR:89547 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d19825c-8d8c-41ae-873b-5b104642bcc5 CLINVAR:8932 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1196fb7-7f16-42ea-8994-db083531b85a CLINVAR:8932 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a850e17-0960-48d1-baa0-9eeffed3597b CLINVAR:89550 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 253d8a30-48a4-4f30-a9a2-120ec577f510 CLINVAR:89550 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f26fa0e5-8455-4c52-b63f-8feb2acff7eb CLINVAR:89556 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96f2ab9c-c070-4c6c-886d-c7bb1465980d CLINVAR:89556 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 899ce96a-f7d1-4188-af26-5c04b90551cb CLINVAR:89557 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd4ab77d-4daf-4b4e-9721-3669b5c05f66 CLINVAR:89557 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 170ddb96-4f1f-4657-bf96-885405805428 CLINVAR:89558 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7da806fe-e936-446f-a6af-3830f48e28bd CLINVAR:89558 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c944497c-1fd6-44f2-ac9b-e0128fef91c2 CLINVAR:89559 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c4bb64a-7d14-4f57-b1e2-7a941790371c CLINVAR:89559 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f289f1b-6bb3-41bf-b5c3-a9e87c41c88d CLINVAR:89560 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 248f72a9-cb92-4650-974c-acc9ed962344 CLINVAR:89560 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00ed98e2-46cd-41a3-9b07-97680e92c4ed CLINVAR:89561 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b18d146-fd3a-4541-a709-8a5fb9955577 CLINVAR:89561 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8f5eb61-9db4-49e1-88d6-31dfb2b130bb CLINVAR:89563 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38225c6a-d986-4ccb-8f33-06c6e305f712 CLINVAR:89563 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f90c1ff9-5c9b-4ff8-9a51-4255a9fb1377 CLINVAR:89566 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a893f85-56a5-49f0-9f2b-69cbc2ea6cd9 CLINVAR:89566 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca66fb59-c7da-4642-9ed1-cfbc2e8b7baa CLINVAR:89567 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a942b5c-f7a9-47d3-bbc5-2e80e16bb9e2 CLINVAR:89567 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3aedcef-2a57-4f26-9630-f9f4c1e9e424 CLINVAR:89569 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 355feef1-2a58-47f1-8e5f-2f7c268b5dc3 CLINVAR:89569 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9cc837de-e329-4a02-881b-3a048cd93ddc CLINVAR:89570 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca099858-fa5c-4535-a67a-8a3ff1d080c3 CLINVAR:89570 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e382cb4-7044-49a7-b0c4-18fb81386a6f CLINVAR:89574 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 735f6b30-709a-42cb-9eb4-d9f0cb63d82a CLINVAR:89574 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8be6a02-76f6-4eb0-a93e-59cfa24ee529 CLINVAR:89169 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e524d7e2-0728-4506-84dc-616474334ad0 CLINVAR:89169 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5251564e-cc4d-4344-8cc2-1dc3a9647f77 CLINVAR:520541 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08dce8e0-549c-4df6-a84d-9b866a424aa0 CLINVAR:520541 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0738571e-2679-4ef5-8145-bea2bb2a783a CLINVAR:89171 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f76ed54-31df-4151-867d-e3f647ff3a89 CLINVAR:89171 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3bfcd670-39ac-4f84-a708-c3b52f4d3ad4 CLINVAR:89174 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 233d3392-b04e-4792-841e-e16a182a73df CLINVAR:89174 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cde56722-5c1a-4115-85ac-165301ed2069 CLINVAR:89175 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 513c56be-fdcf-4a9b-9942-e529f01f5967 CLINVAR:89175 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad2396a9-2e64-4d22-ba85-241e004015f5 CLINVAR:89178 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51308fac-549a-4167-ab8b-a21a1489bcc9 CLINVAR:89178 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b524510-b25b-4021-9806-a78125d80b69 CLINVAR:89179 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01fe8168-5738-4e19-b737-cd570b3552e4 CLINVAR:89179 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a316b3e-256d-4500-8941-5239379840b5 CLINVAR:633497 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f0f9d25-36cd-4b32-bf95-53d49f8e1018 CLINVAR:633497 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cc8b3e3f-83b7-49f0-ac67-9384a5e1d111 CLINVAR:89184 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39a50920-8f0c-417f-b774-c76eab05c562 CLINVAR:89184 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c411a579-8e80-4f49-8b04-fa3cae0d3e87 CLINVAR:89185 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36dc3b3e-47a2-4390-b839-058a9cf85d20 CLINVAR:89185 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38735711-5581-4d34-8adb-3d00b92d3a47 CLINVAR:89189 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69c05f28-6fb0-4431-aedf-7b8bb3c87738 CLINVAR:89189 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2cb0f980-bd8c-4b61-939c-66377314a500 CLINVAR:89193 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 051939df-620c-4001-a5f6-b676fac51229 CLINVAR:89193 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 109881b0-4eca-45ed-85c4-7f5e5f4ebcde CLINVAR:633495 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54dfd59b-c7ba-47c7-a469-d28b55be41cc CLINVAR:633495 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56b4b303-2551-441a-9fa9-761940d7d511 CLINVAR:89194 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f5e4f1b-0fd2-49a7-8357-7d7425b7901f CLINVAR:89194 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02b7468f-b0b6-438b-8405-30a89f0ae402 CLINVAR:561174 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd0aae2d-cdcf-449a-b3a2-c6a9462829d1 CLINVAR:561174 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cf847eaa-9ebb-446c-946a-dc782d3a48b7 CLINVAR:89196 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 628ee098-5aa2-43a7-8af0-a35aea162d5f CLINVAR:89196 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09bbf24c-7dd6-492d-ac15-482d5da01871 CLINVAR:89197 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5e917a0-f77f-490d-a01f-5fb3ee72f5dd CLINVAR:89197 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 952d7c84-fabf-4f11-95f0-44cf56e55a26 CLINVAR:89202 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88458f8a-ca84-4754-9c16-15c386960f3d CLINVAR:89202 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a4be484-2c79-4978-82af-55fe65bc663b CLINVAR:89203 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89a665e3-12e8-4bcc-bab0-4dc2be2d6065 CLINVAR:89203 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed8e7c21-2d09-414b-822b-3a131afa4892 CLINVAR:89204 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b68fd721-3ff0-4804-90fa-c34308ff7dfd CLINVAR:89204 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel beb79d24-769b-4318-894f-715dac76de42 CLINVAR:89205 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fa1732e-67fd-41b4-905c-19152926ca99 CLINVAR:89205 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b53f32f-c7be-4671-a83d-04c9cc8af320 CLINVAR:419037 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 708adecc-a92f-4655-a72a-a9a795846869 CLINVAR:419037 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e186ecd-6314-4d69-877c-016c8a10fd50 CLINVAR:89206 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9857adba-2675-4f56-9f9f-d1dae25ed9d1 CLINVAR:89206 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7a7e239-92a7-4079-b142-5065f08f31ad CLINVAR:89207 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72dd45ba-fe3c-4e5b-a15c-bdc1875ca16f CLINVAR:89207 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 024845bf-3bf9-4d03-8fbb-a5af58a8d0d9 CLINVAR:126891 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfe780aa-48d9-4047-a557-4f06644d0d03 CLINVAR:126891 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 111ff48e-1ea8-4d59-884b-6c231f653e2f CLINVAR:89209 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b43d64ac-227e-42c8-8140-1559ee66ca6b CLINVAR:89209 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35ff6662-8ff4-4782-a300-dd3ed09d1353 CLINVAR:89210 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9db00d0-7b7c-478d-a311-3d2f38afc896 CLINVAR:89210 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99c6bb41-ad10-4308-80b0-4f48e292b938 CLINVAR:89211 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ea44555-f6e3-426b-8615-3d98f1fd354f CLINVAR:89211 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab109e53-ed10-4294-8f39-9c0cd7af8cb9 CLINVAR:89213 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfb8880f-3425-44f4-91c0-0c0767e604ab CLINVAR:89213 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b99de47f-09ea-4bf7-8594-f579bf88e41a CLINVAR:89223 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 381b5423-e71b-4dc1-8b4e-1ccacf5493d5 CLINVAR:89223 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe63d648-a6f2-4dff-9c74-a5a7ea28735d CLINVAR:89224 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f84425b-40f4-4baa-b10f-675b448fde94 CLINVAR:89224 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 539ea6f5-3e6e-4fe3-a700-9525fec2b744 CLINVAR:89225 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 236633b1-a164-462b-9c7e-c6908bf8db3b CLINVAR:89225 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d91731a8-5cb7-4bbd-9a85-dfbf4654d15f CLINVAR:89227 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 296a5508-f4a9-4891-b4cf-e17dd8d0ecd2 CLINVAR:89227 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f97acecc-1495-4fe6-83ef-1c62274090b7 CLINVAR:89230 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af261d11-6112-4a0f-bc40-5bb4d6dccc0e CLINVAR:89230 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a78ccc70-cf36-4c6c-bd4d-aa63c2d6b7de CLINVAR:89232 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27a3c6d7-c61d-4382-8cc4-00744f32635c CLINVAR:89232 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb7ec835-d6fb-41e6-9f57-ef8e55252c29 CLINVAR:89235 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be05918c-822f-4462-8a22-62b9f9ce6efe CLINVAR:89235 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59069c5c-4e99-4d3d-b391-dc1a1c93586a CLINVAR:89242 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a76a784-ece3-4c4f-a260-486bfabc5c73 CLINVAR:89242 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c8a54d4-0459-4a57-8178-0a0f359f694e CLINVAR:89243 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c813404-a3fe-45e4-b839-d5d9a7e1d9ef CLINVAR:89243 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f6b3b8d-4776-4dc9-b16a-fa1df67acfd8 CLINVAR:89245 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e110278d-b3a4-4a6b-bc0f-6deb5c05df5a CLINVAR:89245 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b5828d67-9e7f-4f14-9e2b-ba14d2448846 CLINVAR:89247 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f30812e9-f594-40e1-850c-ce2772771814 CLINVAR:89247 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 404dd9eb-8701-471d-994f-f0ec5e17854b CLINVAR:89246 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eeeed5ec-26a5-4e19-9662-104052917e93 CLINVAR:89246 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76078c9e-3f10-4057-bf2f-17268ed0913e CLINVAR:89253 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddab8543-4d09-4bfa-82d0-a2f2456bbdc0 CLINVAR:89253 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf42926d-b654-4698-996b-01f1332ef9d8 CLINVAR:89254 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca1bdf75-a3cc-416e-81fc-7f6c1e7c645e CLINVAR:89254 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cf10aa94-5b86-4885-bd3e-1f3962897a48 CLINVAR:89255 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f849b792-a1c0-42b8-a146-c78af579b937 CLINVAR:89255 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 467d64cd-1ad8-4207-b24c-d5337712cdbb CLINVAR:89256 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f74317c3-e815-4c36-bb80-52aef2f0e1bd CLINVAR:89256 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81fcbcc1-8634-4810-93f0-0e889b469a03 CLINVAR:89261 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54239971-73b5-45f8-a3a2-db701e4c4faa CLINVAR:89261 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 000833e7-7664-4dfe-9d95-677b5f365744 CLINVAR:89262 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1636e738-6a43-4b11-b233-eda508a23bf8 CLINVAR:89262 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel feb5c33a-641e-464a-887e-50d943058f6a CLINVAR:561175 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42bf6a77-1910-4e04-adbd-bb606795c0c2 CLINVAR:561175 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 65e0e74c-513a-4187-81df-8ed609be3242 CLINVAR:141058 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e8ee158-e3d5-41fa-8d61-e0306700a6b0 CLINVAR:141058 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9adc55d-57f8-4f78-b505-d4ddb4b8f553 CLINVAR:89267 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93be15a1-ba29-485a-8802-a77a5f22562c CLINVAR:89267 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 113f1be9-6de1-4d36-8c0e-73e697203f4b CLINVAR:89271 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac8cc910-fcef-44cf-b16a-00b133b218d2 CLINVAR:89271 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb139cca-5658-4793-8520-9fe6a5ecaa37 CLINVAR:89274 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62d838db-8ed7-42bb-891c-19148cb80d11 CLINVAR:89274 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54b99c18-c490-42c7-88a2-4ded829b15e2 CLINVAR:89277 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 339f4f57-d4ea-4ecd-beb5-0d9a9a51db8e CLINVAR:89277 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 187ff2b1-5177-4d97-877b-675b6cebe6ef CLINVAR:89285 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6a5be20-6811-4a4d-bb8f-544afd175470 CLINVAR:89285 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23eacf93-53a2-4b64-868e-ff8f922c4b27 CLINVAR:89286 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d36ad6f2-7013-4712-a637-032c28d5d606 CLINVAR:89286 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1a73e9d-b371-4d8d-ab1d-92bf35b51984 CLINVAR:89290 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6edab137-8be7-4e71-bdce-4fb09c0ef5fb CLINVAR:89290 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4da5ba64-0061-4ed8-898e-39d578cb9dc9 CLINVAR:89303 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6946389-7dc0-488e-8de4-6a3d6a23d494 CLINVAR:89303 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0709c2dc-f8d7-4e5e-b17f-034826146ad1 CLINVAR:89308 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e30f2aa-97ba-49ab-99e4-cbe0ae96985b CLINVAR:89308 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba8d53c4-6695-4bb2-a236-5e95c1997024 CLINVAR:89310 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6662830-50a3-4ef7-bc50-1cc35afd2a61 CLINVAR:89310 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4917ae64-89fd-44c0-bff6-a10f89bc3f40 CLINVAR:89311 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02cceb78-24a6-4282-8442-019b0feddd78 CLINVAR:89311 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37039e7e-0e96-489f-a80a-79ee01214ff4 CLINVAR:89312 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e9ae060-c6a8-4ed3-b7c9-0e90486712ce CLINVAR:89312 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8736f0e-b112-417e-b31c-f878126aa250 CLINVAR:89314 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c34c47ee-c6a8-46a7-950b-a856c356575c CLINVAR:89314 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24c022c8-5dec-430c-a903-2eb3050ac8b5 CLINVAR:89315 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ca223df-c181-4e6a-890e-efa78bbeea84 CLINVAR:89315 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aebb9bf4-2b99-4cbe-b489-1dbf34926cbd CLINVAR:89316 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d44f4a1e-b912-452c-b688-15a08f514af3 CLINVAR:89316 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c78aafc-8490-40f6-84e8-3aa34e90427c CLINVAR:89318 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4c10be1-22b4-4dde-8692-074078be8714 CLINVAR:89318 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d7d2403-b539-44c8-b52c-0003f146e04a CLINVAR:89320 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 249ca7ad-7176-4062-a4a2-e71d78afca0a CLINVAR:89320 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1bda775-3f0b-42fb-af7a-825f3add5119 CLINVAR:234622 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 504715c2-ff44-44d4-a0f0-f615dd995556 CLINVAR:234622 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 73ff067f-330c-441d-9c7a-e9a61b67047f CLINVAR:89323 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5938580-fd65-4aae-b972-1f1a6609a33c CLINVAR:89323 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13abb2ea-579c-4552-bd45-5e25fe296764 CLINVAR:89324 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07739ca1-86dd-42d9-ad68-6697978795be CLINVAR:89324 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b131ef91-3135-4621-ac09-139104309843 CLINVAR:89326 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef8fe150-b1d0-46e7-9dd6-d389765c9c84 CLINVAR:89326 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c480c42-cc66-4515-a775-e749c53374be CLINVAR:89328 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef7ed815-9292-4776-8b98-fbaf0f07e606 CLINVAR:89328 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a02a825-b1f1-42be-9724-5f6fea649004 CLINVAR:89329 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfde88fd-b514-4f02-bee8-abe351030acc CLINVAR:89329 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81c2f45c-c619-43b2-adf9-d3dec5e724b4 CLINVAR:89330 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d8dc4e1-af98-47a1-a5a0-70878d33d707 CLINVAR:89330 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27658623-b11c-4e42-b95d-9e6bea6f8ad7 CLINVAR:89331 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32c90fbd-0fdd-49de-ba5f-f3add7da9cfc CLINVAR:89331 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36dbd772-2aff-4b01-b696-d2462b3bedbf CLINVAR:89334 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80b6facc-9489-4562-8a38-37f5e48c1ecf CLINVAR:89334 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81937290-d57a-470a-a07c-958abe15d033 CLINVAR:89336 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8081aba-aef2-4d33-b205-79fd93076ec3 CLINVAR:89336 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5761b9c-8728-4dce-a6ea-f28495bc9b94 CLINVAR:89338 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 190c7f42-0cc0-4639-862f-2bf8c9abcd65 CLINVAR:89338 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d06916d0-096c-4671-9d9e-9a20c4b6ea04 CLINVAR:89339 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9cbb9ac-e9dc-4f16-ac83-4c5541f14ad6 CLINVAR:89339 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8828e935-3123-4392-89f5-9607f5ca21ea CLINVAR:89340 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 657e597b-391d-4cd4-afb9-5528f0e6cc33 CLINVAR:89340 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 066349a5-cf72-4dd0-9540-a16eb3df09fd CLINVAR:126892 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0901f1d2-67f7-42e5-abf1-f894ec4a9976 CLINVAR:126892 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7a9110b7-09b4-4992-81b5-7009619d22f7 CLINVAR:218057 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 247fd208-9d62-4b4c-b072-f643e78d9715 CLINVAR:218057 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b898945e-d346-4a62-ab3e-cd413554c93f CLINVAR:89344 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 146789f5-b2a8-45da-ae69-9ffb69ee238c CLINVAR:89344 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 31afd3f4-004a-4e69-ab45-54e30313389e CLINVAR:89348 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 870aa249-85cb-497e-955d-2339f2c859d2 CLINVAR:89348 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed2d63c4-3b77-4071-9f8a-bdb94aaa40c8 CLINVAR:89347 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 677d8fd5-dbb2-48b9-96a9-09b43c87bbe6 CLINVAR:89347 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1ac0bbd-3b1a-40e2-812f-3d2590f82f67 CLINVAR:89349 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f73dca9-5d1e-43de-836a-2fb8561dd8bf CLINVAR:89349 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 84cf2ae4-7f70-43e2-965e-b06b8b5ae7b7 CLINVAR:410436 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a38af89e-5b14-412b-8ae8-7322d4f2948f CLINVAR:410436 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd2f6ffd-cf33-4fc8-9253-387903170290 CLINVAR:89350 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a631b3f-20b5-4bda-96b4-565bc7f49a64 CLINVAR:89350 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4ecb6deb-7575-49fe-8653-23c2445541bd CLINVAR:89351 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53d409ad-8a35-4e4f-8be4-dad50564daa7 CLINVAR:89351 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97752ac8-4f4f-4dbf-9ca7-edf207ea4517 CLINVAR:89352 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3621a198-e997-45df-afdd-92cd13e8ff46 CLINVAR:89352 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78cee806-bd57-4c83-82a8-f7334f94fb4e CLINVAR:89356 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fcda98d8-9257-4c44-bdfd-0e8f225b5d6b CLINVAR:89356 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 121006b8-be23-426e-9e35-07ba59dd3fd1 CLINVAR:89357 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0c24b83-ebab-462d-b113-2f05e0e1a653 CLINVAR:89357 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 600b8546-5c3b-4680-a8c7-f17164813e0b CLINVAR:89364 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0bf3e9e-c9e2-48e7-b54b-4bd4ebec5543 CLINVAR:89364 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b50b8726-be7b-4d33-978e-2c8ec51df0d5 CLINVAR:89363 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edad79d7-84ec-40e2-bc35-f20b287876a2 CLINVAR:89363 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a97a834-77b4-4aa8-8036-dd3986f38639 CLINVAR:89361 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 204bef19-2fed-4a71-8246-d2c02aa4eee9 CLINVAR:89361 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 088fcfc2-58ac-49e6-a449-1e502c8123ea CLINVAR:89365 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50c34b36-ae88-4f7a-81ed-d9cba23439bc CLINVAR:89365 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25ba8035-6e5b-4442-8818-f2f23889f1b4 CLINVAR:89366 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18d666a7-5794-4f21-b375-af35e8851078 CLINVAR:89366 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1ab6faf-56a1-4e81-afca-cdbdf389cb0e CLINVAR:89367 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 013d335a-5369-48fc-bc94-68bb67636c58 CLINVAR:89367 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ef09edd-6c84-47ce-bfc1-2e4f023e4ada CLINVAR:89371 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8f028b1-4e6a-4286-b6e5-7e831165b0bd CLINVAR:89371 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 302125d3-8be5-4acc-b09e-7e4799222265 CLINVAR:89370 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59d7f7e1-fe8f-4813-8c0f-e883435a25d1 CLINVAR:89370 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3be10448-7044-4945-a0d8-db6316f4d0ec CLINVAR:89372 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6ef8c33-3707-4d93-8711-64adc0f5d699 CLINVAR:89372 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7caa2025-eb6b-4b20-b0e4-0352b960cb8a CLINVAR:89373 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78580d8b-1b7e-4622-a468-4b36e84a204e CLINVAR:89373 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a816a00-c2db-437a-aae5-6c01c5452a91 CLINVAR:89374 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d469baf1-c540-41b3-ae1a-a39c3b00c5b2 CLINVAR:89374 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 328aa89c-be12-42a3-b389-f50c4a4e011a CLINVAR:89375 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5075d40-18c3-4e9e-9a7a-02257e2332b7 CLINVAR:89375 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3d0bff3-711c-46a4-97af-5a174a96766e CLINVAR:89376 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e405ff59-412e-4836-858f-ab7a8318aca0 CLINVAR:89376 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82a9ebe0-4fae-4edb-b159-981f76b9fe8a CLINVAR:89377 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1482c7c-56f0-4f7f-a55c-40f574acbf54 CLINVAR:89377 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2cbd1fab-9f3b-44a5-957b-950046d46c1d CLINVAR:89382 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fb14847-6ef9-4d49-8a50-67924c6940ca CLINVAR:89382 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1bc473b2-bd57-43e2-a40a-e27b8d5ee5ab CLINVAR:89386 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6066a1b0-cdc4-4ff1-b8d9-fd8f8749f78f CLINVAR:89386 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 290043b1-3dba-4ba1-bb99-0d825fa3faa6 CLINVAR:89391 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e3f6e5e-f7ea-46bb-a055-2d60d757aa5d CLINVAR:89391 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3c1de08d-83fa-4da2-8fe5-e8627548a1e4 CLINVAR:89390 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4d38284-dde5-4838-bd7e-a48a5796910c CLINVAR:89390 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e70166c2-4586-4075-ace7-007e1c082f72 CLINVAR:89399 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2bb4dbf-88c9-4aa9-b3d3-9e4d737bc5a7 CLINVAR:89399 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15ce20d2-eae3-4e65-8e47-076add68eef2 CLINVAR:89401 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 375e7cf4-8ad0-41aa-b5ab-4557d841965d CLINVAR:89401 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 998d976a-b035-4619-998c-d2b5a7fbb520 CLINVAR:89403 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b46a675-fe0a-4c34-98f6-13c235730a8b CLINVAR:89403 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 110bdd00-e3bd-4f0c-ae3c-976f8bc470e1 CLINVAR:89404 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31cb9fc4-dd9b-41d0-84d2-cb75720466bc CLINVAR:89404 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel faac80c9-5ae0-4a04-a684-aaf6d96d81d5 CLINVAR:89405 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d4a3bcd-a07a-438d-bbf5-ec0e9052bb0d CLINVAR:89405 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24d0ec12-db8c-4753-9ce4-71158e534561 CLINVAR:89408 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e9b47d0-1061-44be-9e85-74f4936c63fc CLINVAR:89408 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd149cb7-0da3-480c-8a95-84d44d05fbb9 CLINVAR:89407 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2525e913-ba30-4e4a-90c5-78224ab1620e CLINVAR:89407 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0dbdf7d0-703d-4a2e-8c1e-0edcf24244ac CLINVAR:89425 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 309b05d1-af79-4331-827b-3b02ec3dc397 CLINVAR:89425 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44df7a4b-54b1-485b-bf74-447e641fe460 CLINVAR:219294 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33224ec8-ead6-457c-a083-b752d4b4e717 CLINVAR:219294 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4554a17b-097c-411e-b753-fa16944144f0 CLINVAR:89427 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f732f824-dfd9-4585-864b-be48ef3b0515 CLINVAR:89427 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfb72c21-67b8-44d3-8386-dca5d32f59e8 CLINVAR:89433 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cccc686b-2f1e-4bff-8026-4d4461506b21 CLINVAR:89433 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a3516dda-e57d-4e08-8c19-db11a4980a74 CLINVAR:89440 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9905f292-4ce5-4413-b76f-0c56622b9eed CLINVAR:89440 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3f694604-94f7-4563-b229-0a490fd81ce9 CLINVAR:89435 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad784e39-c7fb-489f-af14-737f89c60728 CLINVAR:89435 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d57a8dd-cb00-4c01-8c96-c0b92194cdd7 CLINVAR:89434 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52724542-f7bb-42d6-9a68-d434a01245c8 CLINVAR:89434 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c01e83fb-0425-4c91-9d6e-77ca75e7284b CLINVAR:89444 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08bad04f-a0b3-4e7e-aaa1-ac6e09b16aa0 CLINVAR:89444 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16b40780-0f47-4ea5-a4b0-9a380caf2dd2 CLINVAR:36593 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 359410cb-07c8-4c79-aa3c-6caa4a7742ff CLINVAR:36593 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3b024d0-1082-45f7-8892-cc390b25fe97 CLINVAR:89450 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3dc222ce-c7a7-496b-8374-88d59d0e7891 CLINVAR:89450 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 073cae95-7d4f-4583-b066-f5a8fddbcdde CLINVAR:89453 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28eb26d6-331b-4cf9-8c7f-4f2230dbae07 CLINVAR:89453 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99f0c463-f7c0-4e12-8a96-19c1a05d1e82 CLINVAR:89454 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65724077-60c0-4bf7-9cb1-ee6c2d94f1ac CLINVAR:89454 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28441d44-06b1-4226-b4c4-f0e9d12b033c CLINVAR:89456 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a151e0b-8dab-4f8c-95b1-dfe54c9a5b1d CLINVAR:89456 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca5425ae-b5dc-4200-8926-856d8828ea66 CLINVAR:89458 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c01b0fd-550e-4c38-b987-3775287c6e8d CLINVAR:89458 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 340eccb4-5265-4cc6-ae54-e7c6c9ab4d88 CLINVAR:89459 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bde34c9-3db9-4bf1-8283-c76cf962f725 CLINVAR:89459 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00ac5fd3-1180-4ca5-9a97-5519406af14a CLINVAR:89462 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee921c9f-33c9-47bb-b6cb-548148a7cfdc CLINVAR:89462 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bd28739-4d3c-483c-a359-759bdac40189 CLINVAR:89463 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75a42c09-f995-4914-9512-e08e7bb8ff30 CLINVAR:89463 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32bc3a9a-b2f2-4c27-b0d1-8c243fd53d25 CLINVAR:89469 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 573cd64a-1f4e-422b-89c6-65f1c6290345 CLINVAR:89469 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54c584ab-b1f9-4356-9650-0d8f4996291f CLINVAR:89471 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d05050e3-c828-4c82-87d0-9168268a8fcb CLINVAR:89471 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36203f14-6d8c-4c65-af0c-33a9ab3f304a CLINVAR:89472 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ed228f2-3a52-49a6-9c5f-1425e4bb98cc CLINVAR:89472 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a60a5c5-0376-494a-b578-ae774060ca64 CLINVAR:89474 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc1d1b64-7a08-4d24-a7d2-4ab9e1f0a1bc CLINVAR:89474 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1171026-6409-45e7-b30c-9fd9d0aad08c CLINVAR:89475 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47cddfd2-9db4-4e84-b76f-f5be11f878a9 CLINVAR:89475 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ebbf2a67-7ca2-46b1-af66-1413ea407a6c CLINVAR:89478 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc00d6f1-3903-4c94-870d-fd291e679b00 CLINVAR:89478 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f45c3fe-d9ad-4926-a7eb-3113524550a3 CLINVAR:89480 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c16813a3-94a2-46ec-86aa-fbef362a9d03 CLINVAR:89480 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33209ff0-e9b3-41f1-b9a2-6b2e887933b7 CLINVAR:89481 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4df07f0c-500c-4294-baaa-a93f57433bd2 CLINVAR:89481 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1be1c5e-dbba-41a4-bbdf-9eb45bd682eb CLINVAR:89483 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6868fd03-2549-496a-a9f9-df8a566b0d26 CLINVAR:89483 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83fa0f63-5221-4ad7-bb18-f85ee20b7821 CLINVAR:89485 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85d4a929-8983-43c2-892b-6f5c701d5825 CLINVAR:89485 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6cf1c6cd-455d-43e9-86cf-c7b9d519a3eb CLINVAR:89486 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 313d9e7d-1d85-4eca-8a4f-353c67fac61f CLINVAR:89486 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 206aa3ab-a94b-4e05-ad01-cc0a361af218 CLINVAR:89488 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b6e8a9d-bd74-4d43-b5ec-50845b15f9ff CLINVAR:89488 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fda6351-2c0e-4145-884f-42c5aec98697 CLINVAR:89492 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ec505d1-a4b3-4b0c-8ff9-922ec0e69588 CLINVAR:89492 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2de57db-1769-4efd-bd5c-acae98c9de68 CLINVAR:89496 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c033db39-6d4a-43d4-b541-f89344b9b656 CLINVAR:89496 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44ef3016-4f7f-4a16-a545-2e25bf299759 CLINVAR:89495 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91c87601-0cf1-4d51-a971-ecccccca05e0 CLINVAR:89495 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e98881f-4f2c-4066-bd39-cfb78e003374 CLINVAR:42472 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76aa8264-04af-4190-8ca7-86f658ce880a CLINVAR:42472 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f7bb079-dcab-439c-8a7e-665ebc7a27ca CLINVAR:89498 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b9d4c7e-45a7-4d10-9ccd-388b5aa7461b CLINVAR:89498 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3154393-9f0b-4531-9db3-6a6b90e5e9c1 CLINVAR:89506 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fa318b2-2489-4c3b-83bb-b1e2fa4f395a CLINVAR:89506 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6582773a-8d43-481d-8ab9-8555e6ea9672 CLINVAR:89501 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a157cd02-44ec-46b6-a1db-bb061d192a16 CLINVAR:89501 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 715c4df3-5dc4-4b7d-b34c-3a909ae5f875 CLINVAR:89514 biolink:is_sequence_variant_of NCBIGene:2956 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee7df573-7838-4e61-a09e-467831171867 CLINVAR:89514 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8deeffe-20f6-4628-86bd-a7e359da34e5 CLINVAR:4056139 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 207a2f2c-24fe-4bc3-8435-5f027c44be20 CLINVAR:4056139 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 757d3ff1-0668-49bc-8ce7-8215b951456f CLINVAR:94263 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a43fe5a-0230-47bf-907b-83a39bf4b741 CLINVAR:94263 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37fffc8e-34a4-467e-840f-9e0bc5717cc8 CLINVAR:2100759 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 747a3e82-64ac-4899-9a03-dec0c3691aa5 CLINVAR:2100759 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6c6cca1-6840-465c-a54c-a9b0c96cac38 CLINVAR:284469 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d225b2a1-326f-4414-876e-9a41e59bac92 CLINVAR:284469 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f52e696e-aab9-488e-a123-577997a2428c CLINVAR:4056140 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb4f7e8f-597d-474a-8cd6-c9451278f599 CLINVAR:4056140 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c156de0-3dce-402b-9ba9-9e9cccc626f3 CLINVAR:197217 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb9563fc-3d9c-4b09-a252-03d07f7963e0 CLINVAR:197217 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c0cebd4-58ea-46fe-a95b-3078a8b038c9 CLINVAR:265108 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b3a5510-c1a2-4f53-a2fa-701600502d8e CLINVAR:265108 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77f47d0a-725e-4f53-8f25-ee1368066bd1 CLINVAR:4819968 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b8a4595-1609-409f-9108-bc5a65ad3d8d CLINVAR:4819968 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 768d51ca-6a8c-478f-bb2f-3dfc52932046 CLINVAR:281140 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a99d2de-5b23-4ac1-b44f-7cc969b80976 CLINVAR:281140 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14d1b361-f187-43be-801c-7ca0d7e18edf CLINVAR:4056137 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74c12ddc-f0a5-416d-9ef0-741084f15038 CLINVAR:4056137 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec937389-c826-4fcc-80d4-f8cf828cd777 CLINVAR:94352 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b2ce429-c7cc-47ae-9c0b-cf6776fcdaaf CLINVAR:94352 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60ddb262-add1-4bce-9c7e-8226bc3624f1 CLINVAR:290209 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77875fd5-6e1c-45c1-9c0c-8d59cc981194 CLINVAR:290209 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b2f580e-3a07-4681-b91d-0abbc564e6ac CLINVAR:94355 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1e3a4f1-0070-4a73-a5c2-adc2fa1030ba CLINVAR:94355 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60e93514-8f0c-436b-8290-a2bc0944dd96 CLINVAR:198495 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25412b21-e297-407a-9a82-66b1839a8cc7 CLINVAR:198495 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f3955b5-e71e-4c53-8341-47277cb853b2 CLINVAR:94358 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 487916e5-2183-49db-818d-0dc5bd807ddf CLINVAR:94358 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20c2fb81-f278-4c55-954b-826002a82bb8 CLINVAR:284800 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d087c8f-cedc-4b13-a0bd-06bbacb33e29 CLINVAR:284800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f45400d9-7a94-4a24-b8f6-f6202b0f046d CLINVAR:290198 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f3cfb0d-26b7-4fa9-be48-307f5e5c3b7c CLINVAR:290198 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 618f61ed-f3d8-49ff-9784-b96850780287 CLINVAR:639814 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9307146-6096-48f5-9ed8-b2e83db0659b CLINVAR:639814 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55f7d59a-fab4-45d7-8769-964723719031 CLINVAR:6684 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ceb5ae39-91ac-4757-8cd2-c8d7c68b7a6c CLINVAR:6684 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 035eeca2-6f00-4842-90dc-48167d61a7d0 CLINVAR:94365 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2a59d5d-6ed1-433e-8343-a5025a8969f5 CLINVAR:94365 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab47b43e-e76b-48cf-b7d2-6e8637a5b055 CLINVAR:2674961 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fcfbace-d056-444a-9d4f-c5014660f547 CLINVAR:2674961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b6299c21-0308-4c02-81d0-ebee7ec26462 CLINVAR:555770 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50a85d24-994f-445c-8cac-32c97b557cc0 CLINVAR:555770 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 298c9323-1812-479c-b87a-8c5ef16f3f4f CLINVAR:94366 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98521bae-124b-4dfe-8e44-f54cd10231ac CLINVAR:94366 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 198b7197-84f2-488d-838c-d7978e18c136 CLINVAR:6681 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8f8b020-9930-45b9-8ff0-0e4e9636ada2 CLINVAR:6681 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a63b808f-4b79-478a-ac6c-a94773c0e8ad CLINVAR:837557 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0fbfcf8-9709-46aa-8708-a3476efacf05 CLINVAR:837557 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c017cba-cae3-48fe-838a-c378359e1355 CLINVAR:6682 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 468a83c4-86a6-48f8-837c-8462ef505d2c CLINVAR:6682 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f53e5598-b44a-4eff-b707-ec3d84337d67 CLINVAR:858180 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c6ed97a-6380-46df-bf3d-17e80e12fa3e CLINVAR:858180 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6899596c-0df0-42a9-9a64-07cd2582876d CLINVAR:94367 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b72e44ce-f20d-49ee-b44e-b0b39acd1b82 CLINVAR:94367 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a0c37a4-088f-4245-9ad2-16d34e5dd3dc CLINVAR:2441119 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3561036-7e32-4f94-ae5f-c513d9423605 CLINVAR:2441119 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a6e50815-8332-49a0-a0ca-543da03e150b CLINVAR:551237 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41feef13-eb1b-4958-98d0-dcdd52b97c0c CLINVAR:551237 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eaa42b73-158d-40bc-8ae0-4a138ab4aa8f CLINVAR:3775112 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 936c91ed-49ec-49ec-82cb-2bbf3ef901d7 CLINVAR:3775112 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4c375692-9008-4a9c-928a-c31bb2f68cc0 CLINVAR:3775114 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 997f1357-c1e4-48cb-9280-3f6e89c48f40 CLINVAR:3775114 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 99bb4967-7867-4075-be8e-1abe83c8ecbb CLINVAR:551891 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed240a33-d6c8-498a-9e80-2c0f5b9b304c CLINVAR:551891 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51940420-0716-4983-9541-4cafb47c6dd8 CLINVAR:288183 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a502671-6538-403f-8120-44a39ec2e42f CLINVAR:288183 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d46cafa-f8e0-457a-9ee3-dd101edd057e CLINVAR:94262 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c52d39a-5364-4cbd-b590-67f6c18dc3da CLINVAR:94262 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99a9c99f-496d-4207-8dc7-6f5b30c378fa CLINVAR:808764 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00dd50a7-0ce4-42e5-908d-7a56961f9887 CLINVAR:808764 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62a38711-140d-4840-932a-8f065e495a40 CLINVAR:288116 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e90a5e69-1f5a-4a16-a26b-223cacb44374 CLINVAR:288116 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6babf487-6b27-4ae4-89a8-4436b1e118b5 CLINVAR:488834 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8fedc43-165a-4c62-b798-7de8ced755ba CLINVAR:488834 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7567f0c-8fc4-4741-a1a2-00361e19ff7f CLINVAR:290141 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e607ab68-6c4c-4931-b682-45a08ed7c737 CLINVAR:290141 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a91c62b7-1879-41e2-860c-c00965242447 CLINVAR:869485 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d5a9759-1055-41ed-bc5b-fbcd7165ba20 CLINVAR:869485 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9670ac1f-126f-4479-abc2-42bf4ce513f8 CLINVAR:282410 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aee2273f-6681-4cb3-af08-15c59459aebb CLINVAR:282410 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c11e7ad-f217-4783-b47d-2f7bcd630e62 CLINVAR:497129 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cf2cf6a-6fa9-4583-808d-0b85043db857 CLINVAR:497129 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b594b4f-c89a-4dc4-97e8-da9592a077a3 CLINVAR:497131 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1fcb3078-72ed-4035-8771-46f2f38ac038 CLINVAR:497131 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c8a82d0a-2417-4bd8-bcd8-be945bee616e CLINVAR:429885 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4f7b515-31c4-4a4c-9ab6-dcc6997efa86 CLINVAR:429885 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 355174ca-787b-402b-b6b9-ac4a3c22a718 CLINVAR:289571 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b504247-7937-44af-98a0-de7e3ac869d5 CLINVAR:289571 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc8f6d2a-c00c-4435-8ba8-4f68925c1a17 CLINVAR:281954 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ea20be7-5886-4541-8339-468219759b9d CLINVAR:281954 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 739d4321-fb87-47d9-9de6-3ef728b775fa CLINVAR:551669 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce420cc3-8e35-41c6-b458-26f92369f4d3 CLINVAR:551669 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba320660-f2e6-49b2-a9b2-5a41e62ba966 CLINVAR:194354 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25fc589a-150b-417c-9f63-a7f6052172d4 CLINVAR:194354 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 214ba164-1caa-41d5-b9a4-7ddfce712906 CLINVAR:3571436 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f9658cb-d1f9-4d87-8f28-9d76b7e1525f CLINVAR:3571436 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3bdd87a-5ca7-427d-9bce-1d5788eead80 CLINVAR:94269 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7556986-5ad9-4b5f-ba5b-8b2ef0934c47 CLINVAR:94269 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd2ea3cb-212e-42cc-ace8-bfd376f97f7a CLINVAR:550946 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a045275f-a3c3-40af-b544-3c603b47ceb4 CLINVAR:550946 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1394588d-6bcd-41b8-ab69-0ab2515c0eed CLINVAR:94271 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7f55bec-056e-4124-a904-c1dd877eba7f CLINVAR:94271 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc00d5bc-e647-4248-9bac-fff68103f009 CLINVAR:545663 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e80514d-4c9a-4e49-8990-0531b4b56fe7 CLINVAR:545663 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f7b5711-bf6e-4124-af6a-9d77755c4e22 CLINVAR:94274 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e407a67a-d007-4c8e-ad4a-2392a697a1b2 CLINVAR:94274 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ccb2556f-ce7e-4bc2-94e5-26c3fd29a931 CLINVAR:290283 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3969a3be-b5fc-4314-81eb-14747bc9c095 CLINVAR:290283 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3ebc88d-8f31-453d-806a-472d68071a50 CLINVAR:596644 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dffc858c-eb3d-4ca9-b39d-2f88e0083f45 CLINVAR:596644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee6d0bb5-240e-4b75-9208-05cadb74cc0d CLINVAR:6679 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35e39f27-3d07-42b0-a171-2a97136840bf CLINVAR:6679 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8717be6-04e6-4361-86c0-3a12465400ea CLINVAR:265488 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c4cbc03-c7a4-4546-989c-506f9aacb44c CLINVAR:265488 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f191417-0840-4af0-a91a-3910f66e0629 CLINVAR:94278 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91529d91-051d-433d-b7a2-92cd4f499f22 CLINVAR:94278 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb81c644-de81-441b-8ed3-01e5e9838169 CLINVAR:503800 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b1c6e91-da89-49ba-8858-7c0c5edf6f28 CLINVAR:503800 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 945205f0-6f53-4348-926e-01feca83b1f5 CLINVAR:545009 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76998c49-4944-4c22-b56c-01d88853c416 CLINVAR:545009 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c6dabbd-fbf8-40b5-961a-2628e04b9a66 CLINVAR:6665 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0ceed1d-f332-442b-b683-349a7b2db324 CLINVAR:6665 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6b5f125-c40a-49f1-821a-19444e84ca53 CLINVAR:217223 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f00c79d-5cb0-45a1-aa71-1e7ee5c1d133 CLINVAR:217223 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25578010-f2c0-428d-a7cf-cfeec17697b5 CLINVAR:195490 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b79063e7-ab4c-4f13-8443-dc5c8ce4ce8e CLINVAR:195490 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c226c0b-99bf-43f5-91a5-2371d4ec0c05 CLINVAR:217224 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 709363b2-909a-4bc7-bc98-3463412ffe07 CLINVAR:217224 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17494ce6-034d-4d7f-b03a-c1725ef30ed5 CLINVAR:288438 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f6b8f90-f47b-4b55-8f7e-c31a808b1dcc CLINVAR:288438 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5228631-7ea5-4317-ab74-7e7d4ccb48dd CLINVAR:2734216 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 993c47a1-247b-4cce-ac89-628b67c6c7dc CLINVAR:2734216 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a7f6001-08ae-4056-be28-d97a5247359d CLINVAR:963357 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2abe808-6db8-49c8-8248-d5385e7b046b CLINVAR:963357 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a585722b-ba94-42b3-8ae9-1cc3fc94f44b CLINVAR:2203089 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf72edc0-161e-42e8-a5c3-236c87b19fb5 CLINVAR:2203089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e44739f-4387-4ff8-910c-4b8a227b9e19 CLINVAR:290309 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a52c6dcb-fe3f-4a93-a4e4-631ec111ee0c CLINVAR:290309 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13f0d52f-555d-417f-bde0-b3e6edf590f5 CLINVAR:1433815 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0bb8a7e6-7c6f-46d7-a724-00010a6832e5 CLINVAR:1433815 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22cbf338-d69b-4fd8-9546-04a5525c064e CLINVAR:288442 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34bdc0e4-ab80-4d43-8633-f764bf9e419e CLINVAR:288442 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f07f8e1a-b7f1-487f-b6a4-f27ccce248f2 CLINVAR:496872 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6d8e7d1-9f2a-4a9f-8be4-3d7a248602b5 CLINVAR:496872 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 930da777-5e33-453b-bd45-268e5e7076ae CLINVAR:4684970 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31075d2e-f4c4-47ab-923f-eaccef5dc07f CLINVAR:4684970 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5549692-37c5-4ffd-b0ed-54a4a2767d94 CLINVAR:94291 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be1f64b3-e2a0-4f4e-90e0-634b197d5cc3 CLINVAR:94291 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c13b211-ba1b-4d60-ac88-c312790b9433 CLINVAR:936623 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96964c8e-e82a-4252-94f2-916b93845490 CLINVAR:936623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c8dddc0e-5b46-4a7f-a225-19f8643c790a CLINVAR:1350756 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d72d071-fc9b-46e7-b575-b0cd731371bb CLINVAR:1350756 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ad75bc3-3ac1-4965-b911-980a8eee4d5b CLINVAR:592961 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a66eb2d-b339-44c4-bfe6-21c6c83b96f2 CLINVAR:592961 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45ace2bf-b8f6-4a16-b2af-29f11ec7ab77 CLINVAR:6685 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ab652ed-9bfb-4bbd-9758-b37391afbb11 CLINVAR:6685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ae71abd-bc6e-4803-918a-1a213da677d2 CLINVAR:167021 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 075b977c-217a-4d54-82b9-121674c27c9e CLINVAR:167021 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa47e934-fa32-4fbb-b631-de21a2d55c7e CLINVAR:443997 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 212eac11-c27e-4fce-b27b-56656cc4b04a CLINVAR:443997 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a722aac-a884-44d5-9078-e9fef591bba8 CLINVAR:289245 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba901c97-5a72-45c8-ad5c-256edfee970f CLINVAR:289245 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc8c2959-df10-482f-a322-3acda234be99 CLINVAR:3775113 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15ef6f20-0a55-4c36-8bf7-87ef93f6a300 CLINVAR:3775113 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea548a2f-44dd-47b7-a573-f5d3153fcbbe CLINVAR:288644 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9a34dbe-ceb2-456a-9ffb-35524412ca1c CLINVAR:288644 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ebf7ba1-2c0d-489f-b523-99923b1de07c CLINVAR:284254 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4201ecdc-5834-481d-b4b3-654066fb27a7 CLINVAR:284254 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99bd104b-f60b-498e-a691-a82313aa10fa CLINVAR:498353 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f39b7dd8-0adf-4e13-afe1-987b95ab5a51 CLINVAR:498353 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68a5df8b-9b7d-4a37-bf55-4d9b4453eabf CLINVAR:551236 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ff9d04b-116b-4678-9104-6e97114aa24e CLINVAR:551236 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fb3b4e3-69f3-47aa-9327-1a309147360c CLINVAR:4528887 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c58a7b9-f5c8-4864-9f4d-db2f552fe928 CLINVAR:4528887 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8dc19f89-0b96-46d4-a641-b6e261e1f5bd CLINVAR:284804 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6ff1c77-1422-482e-98e5-6ee7d4e8be1f CLINVAR:284804 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 235fee37-7971-474e-9dfe-946ad9cacd50 CLINVAR:196175 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2946f6e-851c-4b7e-b448-774aee016e76 CLINVAR:196175 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90fd805a-6053-4b40-934a-c0a0eab31bcd CLINVAR:498619 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 058c9b0a-a081-49f4-911d-618db291eda0 CLINVAR:498619 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4382e006-61d7-4c64-acac-83d4b9f4aa2a CLINVAR:217225 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cad6860-5d3a-4747-bbb5-02ec047297db CLINVAR:217225 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ba2c817-d2a9-4f25-8e35-46b3cd338de8 CLINVAR:242418 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4365fa3f-aca9-4fb1-bcd1-32e29bb01fb8 CLINVAR:242418 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4e02f02-e87b-460f-a004-e1ceaff0cc6e CLINVAR:2912979 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1274d2e-5ab1-476a-bd17-ee7c188b7aa2 CLINVAR:2912979 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b72d2852-2fc2-40bf-9699-79e034ab3329 CLINVAR:282449 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c7965ec-f989-47c0-909e-2801d1197053 CLINVAR:282449 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c024f1c3-7ce8-4f3f-8363-0011934e5183 CLINVAR:2441144 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fd304cc-4e94-4f2c-8f83-504895812a8d CLINVAR:2441144 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96d63638-c59a-4a50-8c8a-fb587eb8bf04 CLINVAR:498954 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de1c87f8-f1d9-407c-ae7c-4d969eb3651e CLINVAR:498954 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2bb19811-08cf-4553-b3b5-6a45ba1ae32f CLINVAR:1803708 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10914fe1-a597-4597-a34e-303d3fc256a8 CLINVAR:1803708 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4479e362-c19a-4ab2-b779-43a509d5a72d CLINVAR:6675 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e1d8575-2caf-462e-93b8-8edcc1a193cc CLINVAR:6675 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f22fd57d-abf2-4c69-b8c3-454624f0606e CLINVAR:1521979 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 837fbca9-0e4f-40b0-bf51-707bd95e2fdb CLINVAR:1521979 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 337e8ae6-9765-42f9-bb00-bd2b9f67ccd6 CLINVAR:653601 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 352860e1-d968-4f36-ab89-876458b70e2b CLINVAR:653601 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f81f82f5-dfc1-4a4a-b7e5-00140ed27229 CLINVAR:94303 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2788e17-9f37-4943-8287-37e1e73239fb CLINVAR:94303 biolink:causes MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dea665b1-5066-4551-baa5-47ca616061de CLINVAR:94303 biolink:contributes_to HP:0006785 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar d3b7f794-3a9a-47b9-b3b1-078c923ef90f CLINVAR:94303 biolink:contributes_to HP:0009066 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 46f449ab-53c8-4c42-965a-9d9a2f6715af CLINVAR:1300184 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2ac7bc2-d1d3-4e15-b1b0-6fcb7aae1b88 CLINVAR:1300184 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27e566b7-439c-445b-9b52-9f1f8a0be45c CLINVAR:94305 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28e3cefa-ebe8-457b-978d-5666ddaa70c8 CLINVAR:94305 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd1e7a0b-28e5-4df9-a953-f264b39ba546 CLINVAR:288860 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b56bbc59-cb10-4234-9d9a-b2be7aff6c09 CLINVAR:288860 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f7a82643-6541-4dd8-a534-0edcb7fd8cba CLINVAR:4528886 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c58ca32a-0db2-49c9-b2b3-c95b1896567a CLINVAR:4528886 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88943ead-f0a4-423b-91d5-0a61aa821621 CLINVAR:282861 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b592e5b-8d90-4f1c-923c-f6cf9e2f8e91 CLINVAR:282861 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba8a441b-67c4-4799-8aca-e248b059759c CLINVAR:370730 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b514b744-0209-41d7-b3fc-b1c9fe975e1c CLINVAR:370730 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a5235a9-d167-4769-bf72-45b7e771a424 CLINVAR:2674975 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2fb760e-3082-4b8f-b972-fe43a9d8b403 CLINVAR:2674975 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36d79119-3216-435b-9399-f70bd4652b68 CLINVAR:4280328 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 529c81aa-3892-4f99-b178-10bd6c387d88 CLINVAR:4280328 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a869b8aa-c742-47bc-8c49-9c59e291a2d0 CLINVAR:813985 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1405204e-7954-45ff-9600-7e218974667c CLINVAR:813985 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0520645a-0294-4310-94e3-c19f0393e4d6 CLINVAR:4528888 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7baab030-12e4-4212-88e9-510220d87f61 CLINVAR:4528888 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e65e59f9-ada9-4afe-a69a-706ed5044b0d CLINVAR:646166 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar def8cf6a-9854-4006-8e7c-0e05e706c074 CLINVAR:646166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98cfb321-ba63-4ae9-9600-4ba9db051be6 CLINVAR:167025 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50d7b307-9b16-4958-8f24-f5331f73b3aa CLINVAR:167025 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 149524cd-3a32-4f5c-b384-b6ad1d5481ae CLINVAR:655896 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45ba1212-755b-4553-b038-fab6a8caa5c3 CLINVAR:655896 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9323a434-d29f-4427-a01a-ce896f25b10d CLINVAR:555968 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd9dc9e8-478b-48b0-a391-bac48e4ca427 CLINVAR:555968 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b410006-95b2-43d9-90ba-a67650dd0b94 CLINVAR:280068 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ab54f35-1ce9-49e6-b725-4e89703f3723 CLINVAR:280068 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6c556152-121a-435a-ab80-641a382c02d5 CLINVAR:281072 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c360160b-453f-44dc-83c8-1eb9a92d9a99 CLINVAR:281072 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92dbd2af-f2dc-40d5-ba52-aa385e212e09 CLINVAR:285153 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47d4e208-0287-4db6-9ef2-5c516225a497 CLINVAR:285153 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 640a63ef-e110-4dc5-a15c-f2e31333f1a4 CLINVAR:984123 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8062401-ec2e-43a7-a216-85b117e69f89 CLINVAR:984123 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e03e547-8903-4e48-a74f-d4f81638fc80 CLINVAR:290284 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef5f7a31-7c90-43c8-83bd-c6bac6ad070f CLINVAR:290284 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23f76bbb-85cf-4dcf-9c76-a963a180a061 CLINVAR:94324 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c6fec47-2377-4b6c-a024-fecc0a839a95 CLINVAR:94324 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 48ff4437-c81c-4948-b66c-9eae38846205 CLINVAR:283205 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1faedeb-09b6-4798-83f6-a168bedaa5f8 CLINVAR:283205 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ce7c324-32fb-40c5-ab6e-10b9d83774d1 CLINVAR:4280329 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16e59137-9173-4143-8a91-8ff376438933 CLINVAR:4280329 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b72e8ed5-0808-4e78-8eb2-bfb21f1a5233 CLINVAR:813970 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6f945f1-7676-49d7-8d38-4229dceae158 CLINVAR:813970 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a1bf7f8-0bbe-4770-a9dc-93668f8b30e1 CLINVAR:94330 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec92d22f-1ea4-48c5-bda2-4a60f34eaa4e CLINVAR:94330 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd2909dd-b62b-435b-991b-f52d3d109a4b CLINVAR:94331 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 971ef828-1a42-4208-91c5-e5ecd9121a28 CLINVAR:94331 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 874049c2-1b27-4ec5-9486-e96727be18df CLINVAR:4056141 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8a150eb-ae16-4770-ad35-c49293cb2219 CLINVAR:4056141 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 280abd28-3185-4131-8d17-c484b58d8873 CLINVAR:1300185 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cbcc8eb5-591b-4b45-80cd-33bdabdc2dd9 CLINVAR:1300185 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12e80fbf-69dc-4739-ad5a-c150e0f080df CLINVAR:658470 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04281b83-7519-47de-aa3d-e1972b019c78 CLINVAR:658470 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47eb9ecd-91e0-4cb8-b1de-3f498279df3e CLINVAR:281197 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b77d749-0f16-4040-8c41-53934c2ec5bf CLINVAR:281197 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 527c4562-5345-4a42-b1a2-8fbd4bcd18a9 CLINVAR:3677022 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 990ddb49-6d01-4c39-84de-2d75f4cecca9 CLINVAR:3677022 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 01da3d58-b554-43ca-8d02-888c9f556ebd CLINVAR:374503 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09502667-ce34-4366-8777-8222ad4be63f CLINVAR:374503 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e8102b9-eb43-4438-9d5b-ce4f5aeb2c01 CLINVAR:2674972 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d88f1b8-5384-4e10-a314-ea89f9d3c6a0 CLINVAR:2674972 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d73e1ad3-12bf-4f1c-b356-a87933368d7a CLINVAR:288830 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83211dcb-b8d9-4d56-9391-431abce4c0fd CLINVAR:288830 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d8714f6-60ec-498e-afc8-6a4d2102e8fb CLINVAR:984127 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44c56b57-19ca-482b-9243-69b987d0c4dd CLINVAR:984127 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12e392a7-2373-46d6-9f09-39403ecb2780 CLINVAR:6672 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a73e9e96-1a62-4286-91eb-8225b047c86e CLINVAR:6672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff64dd64-cb1d-43bc-8109-5e9481039d5a CLINVAR:281012 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7225c73-200e-4d4a-8a91-bf5555a4b4f1 CLINVAR:281012 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c6fb76f9-4541-48eb-b7e9-39fadf28e388 CLINVAR:665724 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32d6e5c1-7fff-4bbb-b925-ad5c222e3a1a CLINVAR:665724 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel be0eb75c-2b9b-4a37-8aa3-fe17cf9c1003 CLINVAR:217227 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8775783e-be80-4611-99de-5928305d4ebf CLINVAR:217227 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb43a304-00de-4392-84b7-50e362cbbc98 CLINVAR:242527 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b10c4813-5d05-4844-b008-1cdf82268507 CLINVAR:242527 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b485b363-64c6-4341-85b1-3b782d6b139b CLINVAR:567124 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f19f4ebb-a1a0-4387-b397-bdb277af6ae7 CLINVAR:567124 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f93e8725-bcd8-46cb-9e73-a5d903fff341 CLINVAR:4819969 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f5d1709-2da9-44e5-b87d-ba504c1633cd CLINVAR:4819969 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c93d5f57-1700-41bd-a26c-d0d5fbdc66d2 CLINVAR:3775115 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe67d3c6-674d-4a70-81ae-b8d20a23adbf CLINVAR:3775115 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d798174-9c45-4a99-9f44-bf72d8e7df32 CLINVAR:1455030 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5538348b-08c0-4098-9970-1961afef18f8 CLINVAR:1455030 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 653a91d0-0499-48c4-85d5-54353ccbd86c CLINVAR:2441107 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54d9ef0c-e862-4209-96b5-31d3aa33808f CLINVAR:2441107 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 49dbc7a2-ddfa-4201-a149-e580385ce6f6 CLINVAR:286151 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b43ff3e-cd89-4c8d-9ae5-c6c6c73e2ae3 CLINVAR:286151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7ad4e37-5e8a-4aca-a484-15961fa8aea2 CLINVAR:94336 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75b6d219-f354-441a-95a5-fcc6a4041b4c CLINVAR:94336 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce964c81-1d9b-47eb-ab1a-8edbfce6fb23 CLINVAR:3776168 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab5b1615-a567-496d-bd9f-4357fd6a1826 CLINVAR:3776168 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5cfa0f67-8321-4f2f-b4dc-07292d1d08fa CLINVAR:471317 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbadf113-96c4-4ea4-884b-2a2c687d528d CLINVAR:471317 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1fa24bfc-9b44-4f7c-9fba-615528c180bc CLINVAR:18443 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c297b2d8-9a81-4552-9f96-59c89bf410c0 CLINVAR:18443 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b47adc8e-f707-4526-a256-e4df0e58c0ab CLINVAR:94337 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c78b4a92-d46d-4360-9fec-e00ee254ec8a CLINVAR:94337 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 557cb489-20c9-40c9-a18b-eaed69b69267 CLINVAR:283243 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dec9005c-ea7f-47ce-b983-a55f7fe66c0e CLINVAR:283243 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3668d7a4-04ef-411d-9ec5-89df9707190e CLINVAR:500678 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52b187a1-246a-402a-bb9d-8e063c755b00 CLINVAR:500678 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b31832b-5129-459d-b240-c28b1d0d7b1b CLINVAR:94340 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ecdf48e-ecdc-47c5-a3d2-3211fa81b765 CLINVAR:94340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f346fd45-3923-4384-bf48-1241c5ebd87e CLINVAR:284471 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f42d7db2-5f84-4f67-9f82-c92e9aa4c045 CLINVAR:284471 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 049debfc-c15c-4b80-acd1-f0240d0542e5 CLINVAR:500214 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fed9ba1-e710-4611-b029-42f14aef59bc CLINVAR:500214 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aaaad6cb-89ec-4dc6-aa97-25548f47c096 CLINVAR:4067072 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 534dff3a-a47d-482d-91bf-5d7720d7f2f6 CLINVAR:4067072 biolink:causes MONDO:0016971 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f8ecac37-c200-476d-969d-2f5067210e55 CLINVAR:4067072 biolink:contributes_to HP:0006785 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 9018a750-42b6-4631-b07c-e0815f276008 CLINVAR:4067072 biolink:contributes_to HP:0009066 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar ff41983d-da7f-4fca-9e14-aa9b217deeca CLINVAR:288647 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33f0bdba-a213-4731-9885-310eba9b144d CLINVAR:288647 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fadcab99-0488-4408-8a0b-30079b967819 CLINVAR:6666 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 556db844-a974-4805-8d69-5acacdf49d46 CLINVAR:6666 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f582d1e-1064-4095-817f-5a3854eb1914 CLINVAR:496981 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 314d6cff-3eff-46d6-b516-668de0b5a02c CLINVAR:496981 biolink:is_sequence_variant_of NCBIGene:110121121 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0829c31c-7c0a-402b-bfca-5c9013280114 CLINVAR:496981 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a4a2cb2-091f-4227-b612-3fd51a78d7d9 CLINVAR:283474 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5e07b77-83d5-46dd-bf25-f33511180f2c CLINVAR:283474 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df2901b1-0fde-44e5-aff2-612d0ce48fc3 CLINVAR:94344 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1650b6e-f0e1-46a0-ac6f-582e7da90949 CLINVAR:94344 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db30da0c-786d-497f-b71d-7edddd550013 CLINVAR:6676 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36153687-ffce-4f20-853e-cf0f29c4c7ec CLINVAR:6676 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4098baac-2ed2-43fc-985c-8671e636029b CLINVAR:4684971 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08654535-6b59-4a88-8d88-e74822aab294 CLINVAR:4684971 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5df0bea-f48f-4014-b5f6-2c95a6b797ef CLINVAR:555213 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7060dc31-bee4-45e0-86a1-88a523fb3018 CLINVAR:555213 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 79133f33-3427-4386-af98-ee9f506987d3 CLINVAR:813969 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63e134ff-7430-4dc9-9921-3b853febd83d CLINVAR:813969 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e6e30f74-86c0-4e32-8537-91dab485df03 CLINVAR:94347 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aeda4c2d-4fbb-4c8e-b642-5d98af4bc8d9 CLINVAR:94347 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc6ca232-0ab8-4927-8eeb-254ec507e71c CLINVAR:2674990 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27ba6469-c92f-49cc-9fd4-5a4c3fee291c CLINVAR:2674990 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e26b24e-131a-4f50-90d7-2a80afb16af3 CLINVAR:4528885 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b245785c-1b12-4dda-b4f9-47c8470e33ec CLINVAR:4528885 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b81e22fe-3530-4c2d-8293-cd5ff700cf2a CLINVAR:283475 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71623009-71bf-4f79-a7d6-2234c0048ec3 CLINVAR:283475 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5c99fe8-9797-43f8-9a06-f15467c2d4c3 CLINVAR:94351 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9a7b096-8e82-4383-8444-66cd4935eab6 CLINVAR:94351 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 49905ca2-f06d-42c5-9333-ea32a5dbd15a CLINVAR:858838 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab6c86bf-ba7c-4ce3-97f5-3f611e05198a CLINVAR:858838 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0e9aa104-2876-45ee-8f4f-9799c43228c1 CLINVAR:291078 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e49a59ef-cc3a-4953-bbc2-9adc38b91ac0 CLINVAR:291078 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 37eb9f76-3074-4e7d-8f64-e04d167fcb35 CLINVAR:6668 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37fd7334-ba5d-4161-9043-dd801ebd2359 CLINVAR:6668 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8513bcf6-d6eb-4edf-af82-31b839b7cacf CLINVAR:557110 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f58fc0d-0095-4e4e-806a-8a16a4565099 CLINVAR:557110 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 004fd385-7312-4cdc-bc59-3a71b34b4e1b CLINVAR:1444196 biolink:is_sequence_variant_of NCBIGene:8291 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fea5635-04a6-4370-884d-7fbec70b37a2 CLINVAR:1444196 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04f72b93-1693-42eb-a197-33e2e91a6ad1 CLINVAR:506284 biolink:is_sequence_variant_of NCBIGene:4703 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a836dcd-defd-483d-b2bf-8fce99b0f5d7 CLINVAR:506284 biolink:is_sequence_variant_of NCBIGene:55183 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47ac3d0c-0e1c-4cfe-9095-5349a6e8c4ab CLINVAR:506284 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 280f524c-6c13-4be3-8e76-c3781d10675b CLINVAR:235402 biolink:is_sequence_variant_of NCBIGene:4703 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6245e1af-9d09-491d-ae8b-d2bfd4133975 CLINVAR:235402 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68c3f670-d96e-4674-958a-0087dac6f51f CLINVAR:496132 biolink:is_sequence_variant_of NCBIGene:4703 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 015301e4-33cb-4ef5-b139-b1a46bbfdca5 CLINVAR:496132 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3669a6ce-a193-4953-b4b7-53585596f108 CLINVAR:552059 biolink:is_sequence_variant_of NCBIGene:4703 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25d90ca4-149b-439d-8bd6-b124964f8d52 CLINVAR:552059 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cc594b9c-ee64-4f95-9e3a-25f89f754746 CLINVAR:552042 biolink:is_sequence_variant_of NCBIGene:4703 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf7655e1-b7a9-46d9-b210-08bffeb8a490 CLINVAR:552042 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed6d1c15-1f04-45e2-87fe-f557ca76c224 CLINVAR:553493 biolink:is_sequence_variant_of NCBIGene:4703 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c55042ec-11e0-4496-9b74-d5cf8278f1c2 CLINVAR:553493 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 622d7022-8ccd-47ab-a2d8-d4f874727d17 CLINVAR:533979 biolink:is_sequence_variant_of NCBIGene:4703 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d260da75-b84f-4bc7-bb30-39483cb08b8e CLINVAR:533979 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 41cfb428-3205-4b8b-baa8-268a0953ac06 CLINVAR:552018 biolink:is_sequence_variant_of NCBIGene:4703 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c5cf5ff-5d97-4584-9aeb-84b54f759e3a CLINVAR:552018 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c442c28-348d-4574-8cc2-09f0e0e67473 CLINVAR:373960 biolink:is_sequence_variant_of NCBIGene:6328 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 539a5ec0-14ec-4e18-8c69-f348fe8930b0 CLINVAR:373960 biolink:causes MONDO:0100620 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96b011a9-3628-40fc-89c2-4820b444c009 CLINVAR:1365761 biolink:is_sequence_variant_of NCBIGene:6328 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c784f86-0c50-4409-852a-783ede33f10b CLINVAR:1365761 biolink:causes MONDO:0100620 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5caa6c8c-ceca-4ef8-b99a-c741134fa6de CLINVAR:2435687 biolink:is_sequence_variant_of NCBIGene:6326 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3565fb5e-b4fb-4519-9b2f-a1753721b65f CLINVAR:2435687 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2c2c764b-dab7-48da-935c-9c52aeb9b53f CLINVAR:194555 biolink:is_sequence_variant_of NCBIGene:6326 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bacfaf5-b523-4191-b514-4145cfd0676f CLINVAR:194555 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6630c6ed-26dc-4ea0-8adb-c6426de7aa75 CLINVAR:206972 biolink:is_sequence_variant_of NCBIGene:6326 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78cb95cc-3490-48d6-a54c-169d3688c65d CLINVAR:206972 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c7acb26b-c9a3-41f1-8b1e-b113478ccc18 CLINVAR:984832 biolink:is_sequence_variant_of NCBIGene:6326 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a097d50-bda5-4c07-927c-a6e2016c251d CLINVAR:984832 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2db4f126-f8f3-453d-9ddf-8264dd66723c CLINVAR:984831 biolink:is_sequence_variant_of NCBIGene:6326 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a6a5627-48d1-48f3-994d-43b3da699b84 CLINVAR:984831 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 00805179-bcee-44f4-ab82-b6206a4e1190 CLINVAR:3906897 biolink:is_sequence_variant_of NCBIGene:6326 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 555079ca-66c7-4bdd-9863-dcc7459f2d8c CLINVAR:3906897 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3e3e5f31-2283-4af3-80dd-ac7e2a71dc22 CLINVAR:383825 biolink:is_sequence_variant_of NCBIGene:6326 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0e769cc-70e1-4f1b-8385-4790f811776b CLINVAR:383825 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bb7b6d9a-3645-48fc-8f0b-b88d2084b4e1 CLINVAR:3906896 biolink:is_sequence_variant_of NCBIGene:6326 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cef830f-9080-4c09-89a0-427eed6100e6 CLINVAR:3906896 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 08387461-2340-49ef-a507-9e32da9948d1 CLINVAR:207024 biolink:is_sequence_variant_of NCBIGene:6326 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e31dfb16-bc90-4366-9d0e-2024ae0cbf9e CLINVAR:207024 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1dddd49e-2963-4360-a173-487d40d04b0d CLINVAR:1478168 biolink:is_sequence_variant_of NCBIGene:6326 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 490db853-e1ad-46be-8b5e-48b2defb3a03 CLINVAR:1478168 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 53ef7b52-fb3b-4b71-9e25-f11221d230df CLINVAR:3242418 biolink:is_sequence_variant_of NCBIGene:6323 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9fc982c-2509-4858-87f1-2ab239998b1b CLINVAR:3242418 biolink:is_sequence_variant_of NCBIGene:102724058 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8baf649c-6960-48f6-99cf-a79346b21665 CLINVAR:3242418 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4478f85f-98eb-4c06-8b51-99775d806841 CLINVAR:206852 biolink:is_sequence_variant_of NCBIGene:6323 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1eed5b49-bd03-4946-a5be-5ad254cd9ae8 CLINVAR:206852 biolink:is_sequence_variant_of NCBIGene:102724058 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26619c41-3798-4aeb-9568-008d1ea68bc9 CLINVAR:206852 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25eae367-2556-4872-a2e4-314572313fac CLINVAR:658067 biolink:is_sequence_variant_of NCBIGene:6323 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05612dcc-9d7a-47ea-91f7-15252c7044b8 CLINVAR:658067 biolink:is_sequence_variant_of NCBIGene:102724058 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44c1e23a-28d5-4b24-9c11-84a0e73655b8 CLINVAR:658067 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9a410f9b-a6ff-4bea-bb99-ee481928d524 CLINVAR:189869 biolink:is_sequence_variant_of NCBIGene:6323 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 310dfbd0-2855-4e0c-bc41-f973a6f87d3d CLINVAR:189869 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07ef2c7a-bea0-4052-b6a8-5da6c0b18792 CLINVAR:189929 biolink:is_sequence_variant_of NCBIGene:6323 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1017544-894e-4841-811d-50516a1f6e38 CLINVAR:189929 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 75a8ee5f-4ba5-4409-a323-9c37aae80132 CLINVAR:374331 biolink:is_sequence_variant_of NCBIGene:6323 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31936ae3-1e86-47f9-89c9-986d75ea7304 CLINVAR:374331 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2b51baba-25fe-4c27-a09f-241ef396782e CLINVAR:189996 biolink:is_sequence_variant_of NCBIGene:6323 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62c94ee8-954c-439d-92e2-44fbd63ae616 CLINVAR:189996 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c654b224-a1c9-4b90-bebd-721d37fe0e06 CLINVAR:425702 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72e8702f-d8bb-4972-8354-0e094dc22d4f CLINVAR:425702 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fa230ee-5ee7-4215-b14e-c528de77dcdb CLINVAR:425702 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 0e370268-1876-471e-8dc0-6b43fe4b7ec6 CLINVAR:425702 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 292305dc-3a7c-4b2f-bdef-c3896841e2c1 CLINVAR:8797 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c08e2a6-0f15-47fd-a609-22fd6c1dbcca CLINVAR:8797 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3671b3d-8f46-4d28-a7cc-53a115cb7278 CLINVAR:8797 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar dc5052b8-505f-4394-8b85-a6ed6aab24e6 CLINVAR:8797 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar c9179c67-10db-470e-9bc0-2a5cb474ef55 CLINVAR:425725 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15f6709e-2050-47d9-bddf-3e16589a6fd6 CLINVAR:425725 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4a6b2537-f4d2-4238-a6a8-2376b4803c8c CLINVAR:425725 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar c4b992d5-4d0a-4410-9ad5-91ae54c9a5d4 CLINVAR:425725 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 0155e45b-0247-4177-8b96-b69e91dd4d49 CLINVAR:425733 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5225645-5c17-4d7b-82f4-3f7192e7de7b CLINVAR:425733 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d2bcc8f8-133b-481e-95e6-4e633ed62d4a CLINVAR:425733 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 1dc06f77-17d0-4fcd-a11c-90e6db24e790 CLINVAR:425733 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar bada1c8e-5c8d-41be-9a50-d8beab95136c CLINVAR:812796 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 065c5f7d-2b61-47a9-ad2a-d10dbc5096aa CLINVAR:812796 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6145a4e8-719d-45bf-b955-ac2c5e5944a7 CLINVAR:812796 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 5de2dc56-91ac-4c2d-94b7-238c03217ff1 CLINVAR:812796 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 801b2f3e-d44a-42e0-921f-78496e251482 CLINVAR:8799 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24c91522-3441-4eea-a426-8ad41ae7a40f CLINVAR:8799 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9816d901-d640-4e3f-8071-648ed9df9064 CLINVAR:8799 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 9e06963b-8c86-4ba8-beac-58bd10edcedb CLINVAR:8799 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar add3d404-c477-4128-a6dd-162264e98dda CLINVAR:228460 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 748b0cfe-938d-4e16-b472-12750446c220 CLINVAR:228460 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0e283f04-dafb-455d-86aa-bdff192f2bac CLINVAR:228460 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar aada7fea-12cb-4b68-afb7-df7b9dfe8752 CLINVAR:228460 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 12c7435d-ebbc-4555-9c0d-6bde65bf884f CLINVAR:425842 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87a74bc0-6e8b-40d1-87e9-684b5dceed20 CLINVAR:425842 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c0d7ebba-f85b-4589-9bea-2c7b655c1a27 CLINVAR:425842 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar ee3f4bfb-3668-4b87-8f76-660af443ef55 CLINVAR:425842 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 3b4c9ef5-cb9a-4a2b-8e8a-748957a0ffc6 CLINVAR:409829 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54fbc86e-cee0-4c22-b2f4-9718293a83c6 CLINVAR:409829 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a946a7e0-8b0d-4b55-b634-aa5f07a0effa CLINVAR:409829 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 5f293d2b-59ed-4487-ab32-02c5f991145b CLINVAR:409829 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 808d5282-bb06-4ffd-80c0-925d0885189f CLINVAR:8800 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a56bd15-3a06-4ada-8a03-b9c1bd270927 CLINVAR:8800 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7faba86f-6f98-4ce5-840b-19217ca2671b CLINVAR:8800 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar f3240a6a-e415-4b9a-9af3-fadd1cc31bbf CLINVAR:8800 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 3be92216-e4b5-4427-b2b5-da6900ec5011 CLINVAR:425876 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd0acf9a-d0ba-4306-89a3-6a4bce308c12 CLINVAR:425876 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 557459a8-bf9f-4b27-9634-f577a2af93ea CLINVAR:425876 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 5ade57d4-ba3a-4c4c-a8a2-9f795bf390b0 CLINVAR:425876 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar b7f1d4fe-09eb-460a-b4a9-d0f30d2087f7 CLINVAR:425883 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbc2b048-f487-4de2-bf54-0dfe23bdbdc2 CLINVAR:425883 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 400d46c1-3c9f-4786-b959-41cd74dc9a46 CLINVAR:425883 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 5f54d173-c684-47e8-a04c-bd22d1a9ed7b CLINVAR:425883 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 87a967f0-dd9a-45fc-a4dc-9186045766ff CLINVAR:425884 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a6b10ba-9a9a-43ca-97b4-b9cfd154a320 CLINVAR:425884 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a6262e22-2182-4d77-8199-c128ca070c78 CLINVAR:425884 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 8890f851-79d7-4a24-a723-8ac9bd970825 CLINVAR:425884 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar d04baba2-1f37-4920-9d17-044c2fa201a6 CLINVAR:425885 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ae72717-9dd3-41ce-b7bc-dc1d08825fc0 CLINVAR:425885 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 147bdbfe-c014-4c21-b75d-ba887db1cfaa CLINVAR:425885 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 5544478e-0515-4610-a09e-f0c15b89cca0 CLINVAR:425885 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 25cde3fd-cfb6-4b77-8815-15b9ebb72d34 CLINVAR:425886 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85590c16-843d-485e-a69f-cf60971dc8a3 CLINVAR:425886 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2205bd99-10b8-476a-80bd-46e0f6f0b49b CLINVAR:425886 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 3cd276bf-2e02-4408-baeb-d4e858c01b9a CLINVAR:425886 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 3eccef9e-5492-4bc7-85ea-d3da7551746d CLINVAR:425887 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c5b0997-0057-4220-91ef-98b971e969d5 CLINVAR:425887 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 577f1674-a110-4350-a9d7-991a18e4ddea CLINVAR:425887 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar b57bac1e-2ad9-436a-ba2c-cabbcd194945 CLINVAR:425887 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 9df2cd89-6359-4b6e-8c70-2faded7a5bab CLINVAR:425888 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1537c89d-660b-44c1-99f0-9100d3842e81 CLINVAR:425888 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7c10fb30-0a59-48e3-a349-e9b5b2d659ca CLINVAR:425888 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 7076146d-33c1-45a3-9b52-4132badda30d CLINVAR:425888 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 6fb7e07b-ddba-404d-9fd8-643a7c921438 CLINVAR:425897 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71e9a308-5a1b-493f-bbff-eb43310f5d25 CLINVAR:425897 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 70dbc02d-636e-4e23-add7-58203d6f55a0 CLINVAR:425897 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a8779266-9f0a-45dc-adbd-422c83774a61 CLINVAR:425897 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar bccad2a5-1471-41fa-a292-2d60a01b204c CLINVAR:812827 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed10ca27-5676-45a5-b264-f36177c7afe4 CLINVAR:812827 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4743a3f8-e369-4b63-aca3-34a95e8fb0a2 CLINVAR:812827 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar d3cdd416-9a60-4822-82e5-250fc06d24cd CLINVAR:812827 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 6549b828-3442-4ce1-b9d4-56fb5bb40598 CLINVAR:425906 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db002169-2714-4f20-8e68-0bc1379b1dfd CLINVAR:425906 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47535ed4-b021-4487-a6db-3999f623cfd5 CLINVAR:425906 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar ed76bc8d-142e-413a-a7c4-322cb8604f0f CLINVAR:425906 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 421573c7-4465-407f-8831-4686670aab24 CLINVAR:425907 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a6ae140-c4db-4d63-840f-ecb4adc6ef8a CLINVAR:425907 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d6522e8d-27f7-4bd8-9c60-68711cdeb0bc CLINVAR:425907 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 2af594a1-72c6-44b3-9ae2-4f2338a5b20b CLINVAR:425907 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 8673b280-b1c9-438c-9203-1b92570d7678 CLINVAR:3899317 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf45b294-5741-4000-a9e9-2d846569f2e1 CLINVAR:3899317 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 14220c8c-199e-4bc8-bb6e-3ea37d70b28c CLINVAR:3899317 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 87f6d37d-8516-4e28-b422-1e552b8e3b03 CLINVAR:3899317 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar af5dcb23-53b9-4be7-adf1-39cf40e20ebd CLINVAR:425912 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25c5173b-b580-4da2-ad50-f130a1c6ee93 CLINVAR:425912 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6cccb6c8-9c4c-4042-b27d-fc0b1ba2c5a1 CLINVAR:425912 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar b5d28f38-61a9-4748-ae4d-761692ac291e CLINVAR:425912 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 03fe541f-2dfc-409f-a69c-a1357201289b CLINVAR:425913 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d6af06c-f094-47b2-b61f-859b02b52571 CLINVAR:425913 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bc04398a-730e-4298-9a6a-b6ef69933113 CLINVAR:425913 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 17118c73-b4a4-499e-8b13-00d6ea7c6aa2 CLINVAR:425913 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 9d981365-7686-4647-81fa-58284eec2b86 CLINVAR:425914 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2cf95285-4716-449a-bb9c-99f62a7045fd CLINVAR:425914 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7d3b18cc-c262-4931-b90a-363c429514f1 CLINVAR:425914 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a1ce5575-0396-4eef-9954-8d23ef5137a0 CLINVAR:425914 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 769d46f8-ef3b-45e6-93a6-b0e1f21d6b91 CLINVAR:425917 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e435a9e0-6837-4cda-a6f2-4e3068229a47 CLINVAR:425917 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aceb2524-6cfb-4d18-8968-b8b9057a401e CLINVAR:425917 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 6327a130-89a8-427f-95aa-54b2083011e6 CLINVAR:425917 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar e6204705-d737-43ef-ad61-df0b2a30b2ed CLINVAR:425938 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 918d8fbf-8baf-4aa6-a350-d09ca9084bc6 CLINVAR:425938 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85557d6c-1923-4c14-a829-4461f58431c8 CLINVAR:425938 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 27a335d8-3f43-41a0-8bbd-f8141ca29b14 CLINVAR:425938 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar aaf9f183-f7fc-48f6-866b-fc3e8b931f81 CLINVAR:425943 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6fb9d00-df4b-496e-b0db-75abe70efdb7 CLINVAR:425943 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5db56c0-3cf9-4cc8-bffc-aa1ee351677e CLINVAR:425943 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar dba2c9cc-b70b-4987-82ac-2167934930b8 CLINVAR:425943 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 185d7a70-3e63-412a-b1b0-0c2ad10faab0 CLINVAR:8806 biolink:is_sequence_variant_of NCBIGene:659 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 708a4e4d-0ba2-471b-8eb6-842d8a9db4a3 CLINVAR:8806 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68a15762-ec21-469c-b614-3d5e104b27a9 CLINVAR:8806 biolink:contributes_to HP:0002092 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 38c41ee8-11e5-4e0f-894e-80a55510156f CLINVAR:8806 biolink:contributes_to HP:0006546 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 0dbec56e-3eee-42fb-8406-bb80a31f279a CLINVAR:1439020 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 230e5de0-21b9-43bb-aa87-76a054fcef0d CLINVAR:1439020 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa2cdb60-0f96-497f-8727-1eb49c54937d CLINVAR:161110 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a536aadb-562a-4c13-9cc8-4f7de6c1fddf CLINVAR:161110 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e801b238-ae9a-4915-ba60-369e2d2d1cf3 CLINVAR:644629 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar caaf5c73-e1ac-4e64-ae75-dde2c098b996 CLINVAR:644629 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15c0fc56-b2b8-4a77-8fd4-e67c33117e07 CLINVAR:4683125 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 208763e9-e6ff-4148-9fa1-13db59da7a1e CLINVAR:4683125 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa3b00fd-9c59-4ff1-9b76-c76a4e43b4c0 CLINVAR:161112 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffe17394-29d2-405e-9ae3-2e51da56a4c5 CLINVAR:161112 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62503dec-82c2-4a4b-af42-9a9084ce9a8a CLINVAR:161109 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b16a33bb-b94a-4bc2-8a8f-9c3ee20a2fe5 CLINVAR:161109 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29fa0893-432b-40e8-90a7-feadebcdf857 CLINVAR:945024 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2cbf83a1-dbba-4856-b74e-b9dfd5395ec7 CLINVAR:945024 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b336cb3-3623-485c-84f4-82b8243e67c6 CLINVAR:4683126 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6dd5c15e-0c06-4881-ac6c-1e2856f7b980 CLINVAR:4683126 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e037e599-ebb4-4ce2-8417-d36ee89ce906 CLINVAR:4683130 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f913d776-23fd-423b-9f8a-593f30231af7 CLINVAR:4683130 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7e7eee12-ff8d-45b9-9655-d593ac5eb744 CLINVAR:4683129 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2646f736-2b0c-4f03-b2a3-fee82e2a10e3 CLINVAR:4683129 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3a1536f6-ebea-4ef4-b267-30014959cde1 CLINVAR:1711524 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf52b14f-f978-412f-b240-1ca7e3c38986 CLINVAR:1711524 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 77962f1f-0a12-4c9a-8e44-79b0397e70d3 CLINVAR:827701 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe8e8f72-918a-4038-ae9d-f367ecfdcd61 CLINVAR:827701 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c088f40e-83ab-46c2-80df-fc9400c5b4b9 CLINVAR:432079 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27b90996-7a51-4ff0-8d8e-7814966cca72 CLINVAR:432079 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 178dde08-0ab7-4bde-9173-9e2a3249b98b CLINVAR:623475 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 385b60ef-6c82-4e24-ae8e-8bf276ab196b CLINVAR:623475 biolink:associated_with_increased_likelihood_of MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8adf9727-010f-4231-90be-f39900a15bd9 CLINVAR:636389 biolink:is_sequence_variant_of NCBIGene:1493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c71f489-e5e9-4b90-ab04-5507f294ac66 CLINVAR:636389 biolink:causes MONDO:0014493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51e1991b-35fa-446e-89ad-02d6e1799ed5 CLINVAR:2226 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af14ddf1-ba3e-4d8f-ba03-ab9acbe0de64 CLINVAR:2226 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35a020ba-20d2-4eaf-a67f-605510ab7920 CLINVAR:43597 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba39655d-a674-4a4b-a4b0-fe701ff953f4 CLINVAR:43597 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f57c5c1-6443-4524-9305-7b1003f07572 CLINVAR:428806 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8fe69f5-6229-4ddd-8a96-1fdc83940654 CLINVAR:428806 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7058a41-1ee2-4fb3-8a06-c9df466c0b9a CLINVAR:93326 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4c64220-051a-4e2f-9f14-34603602291a CLINVAR:93326 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c9dcfa7-ea25-4122-b711-f6fd3a50c805 CLINVAR:182977 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94e92e24-597b-4409-909a-4da19a2fc4ec CLINVAR:182977 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f98f628-4043-43eb-a023-3b7f6c5c5b93 CLINVAR:182978 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0727aad2-66e3-47d5-b975-941ae0509ebd CLINVAR:182978 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca914a5b-d782-4c44-8dc3-e715567bae5e CLINVAR:223171 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 844ff0ea-3b4e-4e57-9e41-3aa818ec9c79 CLINVAR:223171 biolink:associated_with_increased_likelihood_of MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ce2b5b70-d136-4964-951d-c5fee52d5349 CLINVAR:223194 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57e360b9-c856-4456-9d8a-8049d458f318 CLINVAR:223194 biolink:is_sequence_variant_of NCBIGene:107303340 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fae321f3-3259-4f25-85a2-a892a67162da CLINVAR:223194 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ddff49d9-51fb-4fdb-9886-8821695cf972 CLINVAR:43601 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a3624aa-6978-4868-a9b4-68bd9d280bec CLINVAR:43601 biolink:is_sequence_variant_of NCBIGene:107303340 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b393f8a7-ba96-4673-bb0d-e01b0b0348fc CLINVAR:43601 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e00af24d-d8e1-4b4d-b6a9-bb4bad7182c6 CLINVAR:411979 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78d353de-e0bd-4b49-a6ef-e985e564f4e2 CLINVAR:411979 biolink:is_sequence_variant_of NCBIGene:107303340 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 458d88dd-b840-491a-9978-69a990e9c26c CLINVAR:411979 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68df59d6-9386-41aa-afea-b0698c84b1ec CLINVAR:526679 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5bc94bd-fac3-4c90-8238-9dc764953a46 CLINVAR:526679 biolink:is_sequence_variant_of NCBIGene:107303340 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d3a6041-5da3-40b4-9a50-ff0b797d5aeb CLINVAR:526679 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 701d9e49-5713-478b-8be0-54d80597f864 CLINVAR:182959 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5886c581-c490-45d2-85fc-f73319ead4a4 CLINVAR:182959 biolink:is_sequence_variant_of NCBIGene:107303340 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bc5f4bc-e224-4159-b13f-972a2117a92e CLINVAR:182959 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 882949a8-1bbe-4e2a-9449-36698bd57185 CLINVAR:2216 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4bb9736-e49d-428e-9cd8-693cc0101a29 CLINVAR:2216 biolink:is_sequence_variant_of NCBIGene:107303340 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1232aa63-b066-402d-a0ef-510b319aabc8 CLINVAR:2216 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64c0a4c0-7dfd-4f54-a9b0-ade3634f7614 CLINVAR:428794 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbb8f019-e62b-4694-b185-678e602d4414 CLINVAR:428794 biolink:is_sequence_variant_of NCBIGene:107303340 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21cb9b3b-b65b-4d2d-8dfe-646d3723ed51 CLINVAR:428794 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c166b5e3-8e63-4f14-aca0-412b87392c3c CLINVAR:196284 biolink:is_sequence_variant_of NCBIGene:7428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e63265cb-ef91-4388-89bf-a78e0d43279a CLINVAR:196284 biolink:is_sequence_variant_of NCBIGene:107303340 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6f76aaa-58a2-4142-ac3f-a41c0ab7e4a2 CLINVAR:196284 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b42bf3b9-507e-41c1-8018-74c5c8015a83 CLINVAR:13960 biolink:is_sequence_variant_of NCBIGene:5894 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ee999d3-8d7e-4726-ac90-1201478fcda2 CLINVAR:13960 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d95f880-095b-4269-8d2f-55975310050e CLINVAR:21342 biolink:is_sequence_variant_of NCBIGene:5894 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fae41753-2fb4-40ef-b90b-8a175742f5a5 CLINVAR:21342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5c3e8e5-e54f-452a-866a-b70017ce0625 CLINVAR:40613 biolink:is_sequence_variant_of NCBIGene:5894 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1924b511-9b06-4913-b625-383a954e0643 CLINVAR:40613 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e447c4e-4172-4292-9b98-99238321b203 CLINVAR:40607 biolink:is_sequence_variant_of NCBIGene:5894 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52f002d3-c9c2-4c68-867b-33855f4e567c CLINVAR:40607 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 953db3bc-e0ff-4cbe-b750-d743857f7923 CLINVAR:13958 biolink:is_sequence_variant_of NCBIGene:5894 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cf91231-f181-4421-a0f2-1b1676625bc5 CLINVAR:13958 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ad50ea2-c848-4350-8bfb-7d05710d194f CLINVAR:44633 biolink:is_sequence_variant_of NCBIGene:5894 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2cfd274b-318e-4c49-a79a-02b1cc894ac5 CLINVAR:44633 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5051e9c5-39d7-4127-bba9-35e64432fd46 CLINVAR:504514 biolink:is_sequence_variant_of NCBIGene:5894 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a73555f-1188-4970-998d-77dfc2a4db7b CLINVAR:504514 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce30bec5-b34e-4907-af61-3397eb1720cc CLINVAR:40601 biolink:is_sequence_variant_of NCBIGene:5894 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c862900-d876-4b51-b79f-e4c7d96e6282 CLINVAR:40601 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4415652c-2c3f-4483-9ef9-6d01dd47cd39 CLINVAR:13957 biolink:is_sequence_variant_of NCBIGene:5894 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad09cefa-d383-4260-8236-9a56c1963353 CLINVAR:13957 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26ae55ae-aba5-42ad-857f-8951a1397471 CLINVAR:40600 biolink:is_sequence_variant_of NCBIGene:5894 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03ed6b22-df48-418a-be5b-96b030b0406d CLINVAR:40600 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ea58bee6-0cb3-4ce1-be30-6476a1c104a4 CLINVAR:40599 biolink:is_sequence_variant_of NCBIGene:5894 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3031b268-e10c-4990-b061-fee371066482 CLINVAR:40599 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f3c7e6b0-3d01-4096-bea5-e9bec3ee9c0b CLINVAR:89592 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87d80204-2ed0-4f0a-85d4-cbfc16179765 CLINVAR:89592 biolink:is_sequence_variant_of NCBIGene:129936471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d63c886-86d3-4133-afa2-b313ddab727c CLINVAR:89592 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c6f0943-20cb-4130-8517-5494bcdf1dc3 CLINVAR:89994 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89c30993-f321-409a-b1e0-d299738bb008 CLINVAR:89994 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd8efeb3-a103-4d0c-8c41-d655f6bcf8a3 CLINVAR:90134 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f33adef-ff14-40ec-9071-3e8e71c0fd2c CLINVAR:90134 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b20626e-6248-47b5-8c14-d587d097ac7f CLINVAR:90135 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f107761-ad36-43be-a328-76cdf2cb2822 CLINVAR:90135 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03539ee0-3252-49a6-bcdc-941abb6cbd2d CLINVAR:90136 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c7d75e5-c7f7-4a41-afbf-fe9e469e56d4 CLINVAR:90136 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ea9fe0b-f76f-4e2d-9577-229215651803 CLINVAR:90211 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0a2ba47-2548-45d6-bd78-c295ba7c3db7 CLINVAR:90211 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 537f9159-1c1d-4991-8015-186f876d7cdc CLINVAR:90295 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68b2300a-e65a-4d1d-9a44-04ff74fb34e5 CLINVAR:90295 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 204b0578-1efb-4f97-9925-3850035fc5e2 CLINVAR:90462 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edbce8fd-cd73-45f1-b40b-83446c34bf0d CLINVAR:90462 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 365d7c0a-5200-4abd-9db8-300d605639e7 CLINVAR:89800 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3721e82-8b4d-4925-ab1d-4bb3121d2fac CLINVAR:89800 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c480bed-a9c8-4974-94ec-899451ca6c1e CLINVAR:89935 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cda6720d-3ab4-4b0c-aa27-4b8d864d9185 CLINVAR:89935 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a956b44-50a3-4ce0-8aa6-ef7d19d3e6c7 CLINVAR:89993 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88651a72-80a0-4223-bdbd-1229996f27e9 CLINVAR:89993 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10beefd3-c3b8-4252-85ce-2c6904cc1b73 CLINVAR:90111 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3afbd04-2654-414d-ac9b-f0aadeca48dd CLINVAR:90111 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 687e91bb-f1ca-426d-8008-6d4186654819 CLINVAR:90166 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bcb75b9d-2b1d-4cbd-8fe2-c2e5eb4f139d CLINVAR:90166 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1cec8eaf-8cd9-49cd-90af-9b4a62c709fe CLINVAR:90210 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a46a75c-13f6-4ac2-bc0a-10f036355588 CLINVAR:90210 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f170cde7-5fdb-447d-bea8-4392cfed27c9 CLINVAR:90190 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98e325ce-0260-4556-b674-0f50077c1a7b CLINVAR:90190 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4b93238-6ba9-468d-a70f-023125257fb7 CLINVAR:90207 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f3840b5-1558-496f-921b-f287ef5414be CLINVAR:90207 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7126a1c-e1ff-4cc8-809d-2678983af7ae CLINVAR:90189 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c906bc40-81b1-4fca-95a9-0d686fc63fc4 CLINVAR:90189 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96d826c3-94c3-456f-9125-8a21d3084fa2 CLINVAR:90221 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2850047e-48bb-47dd-aa9a-b013336cd1fa CLINVAR:90221 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52c4c2fc-dbe6-4f3f-8dd6-c4c8dd641d5d CLINVAR:90254 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2293c10e-79f6-449b-8221-904550ce2ace CLINVAR:90254 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel deea7d0e-0028-4669-8ecb-f2d43e094392 CLINVAR:90274 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a73fedb7-ddac-4d4f-9767-8627956daa98 CLINVAR:90274 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4fcb780f-2466-4e09-8d3e-993cbdb67778 CLINVAR:90296 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f4c5fa0-035e-4daa-bf6e-880177424600 CLINVAR:90296 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53667182-1439-4471-83a6-5cbbc1773eeb CLINVAR:90297 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0a3a1d8-369c-4347-b885-27a238fc0352 CLINVAR:90297 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bec2e186-cf96-42e3-995a-fda8875beea2 CLINVAR:90298 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cfaf59f-43f6-4868-898a-5e482211c582 CLINVAR:90298 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b3888fa-ed30-4702-8de8-b99f6a999127 CLINVAR:90332 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a67a4c7c-439e-4cb4-a48e-0e2936fd2273 CLINVAR:90332 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d647a60-49cc-49bb-89d5-93f70fcd05cf CLINVAR:90331 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5e5a60a-7fba-42a8-a0c0-1fd95a30846d CLINVAR:90331 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 178523df-8bbf-4f07-88d5-d5f9ae0ca74c CLINVAR:90337 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8d02ae8-c22e-4c02-8b8d-81625d568503 CLINVAR:90337 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da64951b-d4b0-4f66-9e89-76eaccb23db0 CLINVAR:90344 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b935949-12e8-4b64-9c57-5fcd7e8d18da CLINVAR:90344 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 624a41e4-6fbe-4c48-8294-c49345e08df3 CLINVAR:90343 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 885fb50a-990e-40db-845a-7984286e6841 CLINVAR:90343 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 09c339ff-573a-49d8-bebc-84efaf8bc8e9 CLINVAR:90348 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25fd295b-6324-44be-b498-9470082bb052 CLINVAR:90348 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10de0f4e-dada-4c1f-81b6-8c1b689f2797 CLINVAR:90347 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc154cc9-2726-4d95-8b7e-fef024bb4f8f CLINVAR:90347 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efe905c8-f7cb-4b98-80ba-85da52290173 CLINVAR:90354 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e67838df-1c19-450b-8acf-cba13da865e1 CLINVAR:90354 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15633a19-86de-4d9b-a922-6bc798630220 CLINVAR:90388 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 804950ec-4e47-49df-8cfc-1fb94ace3da7 CLINVAR:90388 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4509904-015f-4847-be99-a5233705398d CLINVAR:90392 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 126b2213-dc2e-4f50-9447-85c378596eef CLINVAR:90392 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 145ec4ba-90b7-435a-8d0b-29a97f032cf2 CLINVAR:90403 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41d0afe1-752c-4312-88d6-aa5220d2ecd4 CLINVAR:90403 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04b2d042-a99f-4040-93b1-4e3348614de2 CLINVAR:89609 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab6e8fa3-33cb-4f46-8e25-13cad704baf0 CLINVAR:89609 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ff8be0e-aee6-46ba-aad7-abee70322f7f CLINVAR:89631 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0511ae65-88c2-4953-bab4-0574baae099b CLINVAR:89631 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47e2ef88-4185-43e5-887e-b0e292c98e7a CLINVAR:89632 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0db64dd-9779-4711-a641-6cb0bfda29ff CLINVAR:89632 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5b23771-6f53-4b55-a864-86432fed5a78 CLINVAR:17105 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22d2afc4-9ef1-49b3-8a46-fb9ad7258142 CLINVAR:17105 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1e87aef-772a-4f4d-a139-e2bd0af6f478 CLINVAR:89641 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0887b2ad-c78e-470e-92be-298992601a62 CLINVAR:89641 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f27a16b4-1921-4362-8630-3e92df6be337 CLINVAR:89645 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f398e7aa-4f24-4e1f-bc81-d3eec612e9fa CLINVAR:89645 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f8d57a1-7b23-4cc7-9234-f0205429adf7 CLINVAR:89648 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f299fe75-b707-44c1-8e1d-088f2b697d68 CLINVAR:89648 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f495cb4-c465-4ccb-b6ef-62ccf340be67 CLINVAR:561169 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4eff8b17-f2db-4fa9-93ad-fe67611321f3 CLINVAR:561169 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c55a86ba-9dfb-43dc-8b91-05777ccbce9b CLINVAR:89651 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21595deb-b3e9-47b8-a346-7154ef11583b CLINVAR:89651 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 095c5c72-8fd6-40b3-b46d-16f5140d73f3 CLINVAR:89656 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40b6001d-a304-4ca5-9de3-bd647b1549d4 CLINVAR:89656 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 969f1fb1-6427-472f-84d8-93ddc5f5f0cc CLINVAR:89658 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcec19a1-f5b7-4bb9-827a-b0c2a99b89b1 CLINVAR:89658 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f3a22bd-f3cb-4df6-8c2d-df6723c0ef91 CLINVAR:89666 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5094eb3d-cf97-476d-91ec-abcf28467294 CLINVAR:89666 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bcbf7f35-30fc-43ca-b748-5844b941b585 CLINVAR:142856 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1005855-8bbe-459d-ac47-de6494ae3f9b CLINVAR:142856 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32332b09-ce3e-4388-9cb2-4263a6b5fe80 CLINVAR:561170 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aab437a9-30d1-4df9-b6ce-40433f47d398 CLINVAR:561170 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 600f7e4e-5b92-46bd-8095-57ac97d99997 CLINVAR:89676 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d5881bf-267e-428e-9700-e3b0af64c596 CLINVAR:89676 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81a50a7c-17e4-4387-9216-8bc304efdbde CLINVAR:89682 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a368386c-8f10-47e0-ba1d-e4b6cf49ee9d CLINVAR:89682 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f29eb866-c404-4030-b18f-158a3f9cf927 CLINVAR:89684 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b2bab4a-6107-496f-b491-c873ce6e5c35 CLINVAR:89684 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fdec265-8353-4a2c-bc12-e71a1d6255de CLINVAR:89692 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4ff024a-7c51-4ea1-b15f-85a47fa284be CLINVAR:89692 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f8e5138-bc06-496a-ae45-24f99cc23b63 CLINVAR:17079 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d42b227c-f769-4a02-876d-2481592999a0 CLINVAR:17079 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24923fc0-f158-4125-8465-daa5bf730daf CLINVAR:89738 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3a60b83-b38c-41bd-9e36-22a6354e4bd2 CLINVAR:89738 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 331726be-2e65-48be-b499-2f02341f2ff1 CLINVAR:89739 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 070f113b-0ac4-44cb-822a-05dbebefc7f8 CLINVAR:89739 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7f61ac0a-e8c7-47eb-9867-dede9eab6dda CLINVAR:89749 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc34c15b-7083-491c-bedb-fa1fb3aa9ceb CLINVAR:89749 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d5796c4-0296-46f9-b843-fba319621d57 CLINVAR:89756 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50c19075-284f-490a-a061-50c2a0cff4d7 CLINVAR:89756 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9264cf73-434a-45ca-9f7e-ee2f16db700e CLINVAR:89763 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b67e31c2-f031-48d2-b87c-c68ed14dadc8 CLINVAR:89763 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0445a6d6-b3b8-4b04-ab49-baf0b716c8b0 CLINVAR:89794 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8b2b8b7-03c6-4873-901e-f231606c7a03 CLINVAR:89794 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 694de20b-04c0-466d-afbd-02d31adf85ae CLINVAR:89793 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d83f2b72-1931-498c-8561-d1156e8bb278 CLINVAR:89793 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a67c3f2-83fb-4c6a-a0ee-713c89982fe2 CLINVAR:89790 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f917348d-b3de-491d-ab29-676178bffc5d CLINVAR:89790 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f9bc8d9-43f0-4736-a3f8-d9dd0867534c CLINVAR:89805 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39a23ba1-923a-44f1-978a-95459aef571b CLINVAR:89805 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 70992a9d-32d3-4e8e-bc1a-baaaa2b5a8ba CLINVAR:89806 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56e2f297-6560-4085-8f2f-6adea8afa744 CLINVAR:89806 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18c3643c-aeb1-4260-b2bb-a6e6cbf11c86 CLINVAR:89880 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f10bece0-ecb0-451f-be68-e147ee15fbb3 CLINVAR:89880 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35bdf6b4-4513-4f8d-b67f-dc71bdb0a850 CLINVAR:89902 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c1e1548-6bf1-44b3-bd1b-95fdff4c7a7c CLINVAR:89902 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a265125-1ec6-464a-8285-38b0c38b3994 CLINVAR:89934 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e2be15c-dec2-427b-b6ec-e710bc525a2f CLINVAR:89934 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c59c5806-9bef-4923-b5c9-296fc651bd17 CLINVAR:89948 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 594ba9ad-0789-4384-bcea-0069ee069a10 CLINVAR:89948 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2e92cde-dada-4b79-8b7a-e6331b015c02 CLINVAR:89941 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fca3700-43ce-4c98-8dbf-d85fc82146c4 CLINVAR:89941 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d3ba0cb-8e2c-4389-94f7-2534fe7b8cea CLINVAR:89955 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed6b391a-4411-4dee-ac05-a0cab8939b49 CLINVAR:89955 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fbe9b1fc-317a-4385-89f2-4b32ce4e2dc2 CLINVAR:89958 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2d50303-9e9e-4afa-894a-d0b621837e8c CLINVAR:89958 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6aaaf1cd-e38b-48d4-a7f2-1cd05fedee38 CLINVAR:89982 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dff52c81-5d0e-41ae-8468-22a54331290c CLINVAR:89982 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 70acd690-a4aa-4466-9bcb-220d8df5d4e5 CLINVAR:90000 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b49a06b-874a-4cb2-a1ea-e94fd6c8f15c CLINVAR:90000 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9564e04-eaaa-4cfa-a18c-4e3642db6d82 CLINVAR:89992 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 459cd906-1940-4fd7-baa8-59bc5b2cd363 CLINVAR:89992 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9cc63780-f759-4661-af4b-4aba3301ba84 CLINVAR:17088 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c22dfe4b-fae4-4417-86c5-5979ce2b6898 CLINVAR:17088 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6746988-735a-4762-99f7-09b24a500834 CLINVAR:17106 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e403cfa5-c2ab-40c6-a056-560d37cb4ae5 CLINVAR:17106 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 474f7158-416d-43ad-b15a-18599bc18e37 CLINVAR:90008 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7aaeab15-177b-4c23-9160-2e2d46a88275 CLINVAR:90008 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6e934335-e316-4511-a3bf-5abc0303a198 CLINVAR:90015 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66006bce-f36b-4121-bba8-fb40d02699e7 CLINVAR:90015 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98088d70-a787-4a9a-a6e6-58767f5451b2 CLINVAR:90022 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b227f6ef-81eb-4172-8dbe-2a32eef70e33 CLINVAR:90022 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0e801ab2-fbc0-4860-b976-eea4af3f37df CLINVAR:90020 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7de790d-7c17-42d3-9dee-254206d54974 CLINVAR:90020 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5082a6f6-b892-412a-8297-34c2f8960ea1 CLINVAR:90021 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0113b4fa-89d2-488a-9eda-a4db7e50db05 CLINVAR:90021 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e5a22a30-25f4-48a8-a4cf-d05bfd273390 CLINVAR:90023 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 038e04c7-7e29-43d2-93d5-6632597b3e89 CLINVAR:90023 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel af3e458c-6fa8-4d64-b40e-4cc9c5c8b8cb CLINVAR:90028 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c84cd41a-bbe1-4bf2-86c3-d108181842cf CLINVAR:90028 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cbaea66e-3485-4233-92f8-d32738f4aa7e CLINVAR:90032 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d600908-843a-4b49-a494-d44cbed95202 CLINVAR:90032 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 166bae2f-fbeb-4651-ad1e-6e775e491e5f CLINVAR:90030 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe7b7291-a1cf-4b9f-a6ab-97abfaf9689f CLINVAR:90030 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5cdbdf33-cd03-4aa7-87e7-5fa85fa6525e CLINVAR:90061 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee45f838-4c45-4a4c-88e8-519aef2f7916 CLINVAR:90061 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 806661f0-773a-4f66-a165-77a8c77d3ade CLINVAR:90031 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0759572f-1025-476d-aefa-4c191dfdf15f CLINVAR:90031 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f2babb3-f83d-459d-8f0b-6ccf24d2fd41 CLINVAR:90029 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bca34f2b-13da-4d42-8c6c-27931fca326e CLINVAR:90029 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f693d027-7a49-4dd4-a3d4-138fa9c463cb CLINVAR:90067 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3abe7d7-0f26-4729-87de-4a543f5ed2fb CLINVAR:90067 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af12a9b1-0e55-4b69-8ec7-0acea8ba3a21 CLINVAR:90063 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8915db18-e01b-42db-8dca-150de2d1b458 CLINVAR:90063 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 438a80f6-cae6-41fa-88ef-e93522d82484 CLINVAR:90113 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b6db375-0d89-40c6-a97b-7d80634350fb CLINVAR:90113 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7de035a1-5603-480a-b48d-5882c5a0f7f7 CLINVAR:90110 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f42778ba-b91f-4638-a97c-3d253f07b055 CLINVAR:90110 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c75044b6-e170-447e-9af0-5cb8558cee01 CLINVAR:90112 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3fdb75a0-baa6-448a-ae2d-22f02205e00a CLINVAR:90112 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0d69973-dda5-406c-ae19-d88362a61528 CLINVAR:90114 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7023a589-8c01-47de-a5f1-ca9e68ed5bb4 CLINVAR:90114 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa36272f-fbde-4174-9314-54f53de33fe3 CLINVAR:90115 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38f670c0-f718-45a9-b62a-131786ff4af4 CLINVAR:90115 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2cf2bbad-e742-46ee-9c0f-85d97fcd7549 CLINVAR:90117 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbdea2ea-4a81-4d7e-83eb-6cf11dfcd3b9 CLINVAR:90117 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 977ab894-c685-4d77-b37d-5a930b035592 CLINVAR:90116 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 506af385-b753-4847-89d0-fe9b9b00fac5 CLINVAR:90116 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a40e72e8-8350-4063-8a10-d0553762e9fb CLINVAR:90118 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2d4501d-ca77-4d59-a00d-539bbc732292 CLINVAR:90118 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4da4f028-fd8e-4d5c-8869-7dc4f85ff9a8 CLINVAR:90120 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eed9ffed-7794-4451-a01d-9141445081fc CLINVAR:90120 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9ba41130-c02f-48a4-8650-f83a45a1e05a CLINVAR:90121 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8873cb12-5af2-4b1d-bad9-150944dbb54d CLINVAR:90121 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b747de9-9696-4a79-9b51-f0f786f9e875 CLINVAR:90123 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e2a62c0-e161-4b9b-bf85-47c14aad6de4 CLINVAR:90123 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 018bf71a-a825-46c6-8fe6-2abecaabe467 CLINVAR:90124 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ae41540-2db1-48a7-9527-d7b395898a75 CLINVAR:90124 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 807c96fd-28bf-47b4-bc84-c847928c2874 CLINVAR:90130 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89132bda-038a-4974-b360-bf7aaa8a6f2e CLINVAR:90130 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a4472b2a-1db7-4828-8dfb-a04351ffe524 CLINVAR:36550 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8097c709-2d97-4772-87bf-e683a1c8db7a CLINVAR:36550 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd54b5a3-f34e-42e5-88e6-002354d49d9e CLINVAR:90133 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d3b8054-b916-4010-b515-82924b2f77a8 CLINVAR:90133 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d524137-a102-4a07-8406-f9e852aab766 CLINVAR:90137 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2eff2f95-2c88-4049-9448-5a39487877b7 CLINVAR:90137 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dde18335-7c2f-496b-a468-f146bd41c97c CLINVAR:90138 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b0baa17-593a-4f26-80a8-e94ed6215139 CLINVAR:90138 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 203d3f2c-3f64-4e03-9e39-294e70e64159 CLINVAR:90141 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30a7a8ae-5dfb-41bf-80e1-d731963044ef CLINVAR:90141 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a9e951ec-f7ea-4498-bcb7-515c63540b24 CLINVAR:90150 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23d218e1-b4c3-40d9-a0ec-3f07d0d81e99 CLINVAR:90150 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 868284bd-95ca-4745-b6b9-2cc32704cf47 CLINVAR:90142 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c14b491c-da55-4a5c-91b2-1cc954e09d5a CLINVAR:90142 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1c693bf-a2b0-4cb0-a739-301628c8d742 CLINVAR:90143 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47b97449-84a9-40d9-a1b1-c1b2f6b2ecd1 CLINVAR:90143 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0f97e06-31d5-4a1e-8ccc-c3acdb366a43 CLINVAR:90148 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b555d008-c284-407e-9ad6-5f18ae1764bf CLINVAR:90148 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5e38923-6b9b-47fd-bbfb-c9bcabe88edc CLINVAR:90153 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32ce0869-d387-4d0a-96db-f099ab12894e CLINVAR:90153 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42810612-1634-4bf4-98b3-3c3f398dc6a5 CLINVAR:90159 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54d5fce2-961b-472f-98cf-21a8dfe896a5 CLINVAR:90159 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4eb2efee-ac28-4470-9488-3eed959ae9a2 CLINVAR:90158 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87b13973-0da9-4b9c-bce4-97cc76cd9cca CLINVAR:90158 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ca4fd5c-949c-484e-850f-4263c171db55 CLINVAR:90155 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b7cb67b-632a-4fcb-a506-927063c895a5 CLINVAR:90155 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f8dd997-0986-4611-8355-6ff3522545a5 CLINVAR:90157 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75d26a10-ac55-4cd5-9f9c-e4b13821a83a CLINVAR:90157 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 40533cee-68cb-45ad-986c-510bb77f8f38 CLINVAR:90154 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38b652a1-3703-4b73-ae60-2c2e1934a9e8 CLINVAR:90154 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7bf6baea-24f1-4100-84b9-c7440401716c CLINVAR:90167 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f141f57-d565-465d-be5d-5334c8166334 CLINVAR:90167 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75a025f2-83e7-4706-aa3c-690825dee327 CLINVAR:90171 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6fea059-c05d-4736-98f3-0b241b00abc2 CLINVAR:90171 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 478d3fc4-8622-4764-9e97-1b1627f27d14 CLINVAR:90173 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04a48046-9660-48e4-9e03-cfa8b679340e CLINVAR:90173 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d9fb58a-12c5-40f2-bc96-338920a1ab3f CLINVAR:90175 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2135c47c-2212-4b8d-8382-32999a2852a1 CLINVAR:90175 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58867e28-2cf4-4584-95ec-b6b337f2d5b6 CLINVAR:90174 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6c62175-7beb-45af-8397-922d700a7e6f CLINVAR:90174 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89a7d232-eb25-4b6b-bfe1-d7904fb770eb CLINVAR:90178 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2be04ec9-6e5c-47c8-83e3-0c4e79edac3c CLINVAR:90178 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 24fb78d1-f655-48be-a15e-dbe95862cb20 CLINVAR:17094 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2b4ca6e-bf84-479b-af2e-e3510d2b5168 CLINVAR:17094 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b392fac-76cc-46be-ac41-b459fb8f07ce CLINVAR:90179 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60d44dc4-be93-4e2e-910d-b7bd2d59bf50 CLINVAR:90179 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d439467a-54a7-4ae3-9215-b5b59018be03 CLINVAR:90181 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28965fd9-0212-4b24-9132-881f59161d37 CLINVAR:90181 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 712e309d-28ec-487b-9f65-2a0af087f3f2 CLINVAR:90182 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adc8b97b-45dd-40cb-a288-78407889a27e CLINVAR:90182 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c73fdf2-7faa-4e94-8902-870683d51cd3 CLINVAR:90187 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b75e31e4-cc31-4a73-86bb-91a99bab1143 CLINVAR:90187 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58bda37b-2381-4e08-ab9a-04a615d9f5a3 CLINVAR:90186 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89ba381e-8cf7-4193-aaf7-03b92bdafe49 CLINVAR:90186 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1abe0cf8-52a6-48fb-a733-724368c529d4 CLINVAR:90194 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42fb9261-2038-40c8-ac10-d4aa536ce6f4 CLINVAR:90194 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cedb373c-295a-4cc2-bd9e-9ea5842bc4b8 CLINVAR:90191 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b5560e0-672b-4794-a5c6-4852b229e1d6 CLINVAR:90191 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel efbae5a4-e854-4609-bb2c-714c37444bb4 CLINVAR:90192 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c7b0c41-01e7-4fe6-8465-7248a69bdd99 CLINVAR:90192 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2eb359d7-91a2-4686-86f5-7d6c7270ddd0 CLINVAR:90193 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92351ae1-7ed2-44fe-97b8-c0e1be8b3c27 CLINVAR:90193 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 93e071d5-3eb2-42dc-a464-bdba0a13833e CLINVAR:90196 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ebd62fa-8287-4b27-ae53-ba116c2412f6 CLINVAR:90196 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fc0e184-39de-4c50-87f8-6c8c0cb5d8ce CLINVAR:90195 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 250c3e5a-637e-41b8-935d-9900e66830bf CLINVAR:90195 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4d0fcc4f-7e47-4b42-802e-9407717b0c5d CLINVAR:90201 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5716ebf0-9bef-4ac3-9f54-de0bc9488e6a CLINVAR:90201 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83ae9186-1660-450f-a99b-0c159d3a5b4a CLINVAR:90199 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7e75fb9-854e-4959-b550-459362e84888 CLINVAR:90199 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d907ceb-893c-494e-af31-efef098ca406 CLINVAR:90200 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38cca6fd-fb4a-4b33-a002-b248276492a0 CLINVAR:90200 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a2fe725-64e4-4669-ac65-0e6ddeea28f7 CLINVAR:90202 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f797fda-e256-458b-b430-1045fabe94c1 CLINVAR:90202 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc92a4e2-85e4-4ad1-b871-db53f63ef970 CLINVAR:90204 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79933feb-04b7-4bdd-8f6c-f7c7a3361aad CLINVAR:90204 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59170339-a15a-4987-a44f-48ba2a079fe6 CLINVAR:90206 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1b9ada4-2e83-489c-ae60-67c323704e5d CLINVAR:90206 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1c3d9b2-0c61-4819-8aa3-1f7f100f1eb7 CLINVAR:90208 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3ece3a7-7ecf-4ae2-911c-8d1ffe8b44fa CLINVAR:90208 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26684efd-bb62-4448-9bae-b29aae36d11d CLINVAR:90209 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3afa43c6-53e5-4ff5-80f1-3dfc6fad4745 CLINVAR:90209 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 40434a9c-be7f-44c1-bbcf-a41a85bfb6f4 CLINVAR:90213 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74e26f7e-5460-49e4-9cc4-d93eed470a6a CLINVAR:90213 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4392da60-7c7c-4ece-8655-639751b82572 CLINVAR:90214 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c641e20c-9a97-4809-8914-8a05ff2772bf CLINVAR:90214 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba82d99a-045e-4c15-85dd-d36c4922e964 CLINVAR:90216 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41c996e8-9e26-465b-a017-0e5057db95c7 CLINVAR:90216 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1666040f-3ca1-40fe-894f-1e77e763b5e5 CLINVAR:90217 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f3c900c-48a9-4137-9d3c-b4f3d296a160 CLINVAR:90217 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4be8bb68-8baa-4d3f-8648-0502c5a36910 CLINVAR:574220 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a2aa480-0c8a-4361-b2c9-f061437c2dcd CLINVAR:574220 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d34355ac-0b97-4947-a440-8827daed1f61 CLINVAR:90219 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52bce597-3568-4ce5-a426-c98155ee91b3 CLINVAR:90219 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a20c795b-a16f-41f1-a557-9b3956c3238e CLINVAR:90223 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 749336ab-5f55-4a0f-9af3-ce3f50366da4 CLINVAR:90223 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6abe3ec4-1766-4a70-bad0-bc90642111e3 CLINVAR:90224 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8013359a-4c02-4c92-bdb4-4b4dc8ecb3e4 CLINVAR:90224 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21b44e0e-1fc6-4bf7-9707-e392d14ca55c CLINVAR:90237 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d371029-5855-4607-9a5d-b09f490feb7d CLINVAR:90237 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ed0d230-950a-4557-8e01-b59fc109e374 CLINVAR:90235 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad978f77-0d4b-4f42-b905-689be3228b1c CLINVAR:90235 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f2c4c0f-3ac7-4cbd-89a1-72ff2acea5f2 CLINVAR:90234 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2846d35-fed6-4685-81c2-a99eed70b56d CLINVAR:90234 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0291f9be-e2ba-4783-8436-5d4381f067f5 CLINVAR:90233 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fe2a81b-a545-4cee-b6a6-43c265ded8ce CLINVAR:90233 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8f86372-b095-4fa3-9f85-0c42031596cb CLINVAR:90230 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22f465b5-10b2-4867-b174-fb97d56fe929 CLINVAR:90230 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 16bef36e-93c5-48d4-82bf-0d96dcfef161 CLINVAR:90232 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fd5bf28-1b99-4fa5-8a81-f3e84ee3406e CLINVAR:90232 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5fa2b64-b37e-467d-a8ee-3b5739d9b275 CLINVAR:36553 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d4ac9ed-7553-429e-9652-62d18db6be9a CLINVAR:36553 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2344cf0e-8c5e-4518-a0f5-ae3f59db497c CLINVAR:90231 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd0190a0-d454-4e12-b6e8-449137ebce48 CLINVAR:90231 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 82bfb8c0-0f33-4e23-8df9-3252747198cf CLINVAR:90242 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16688f68-6d23-466f-b0c2-e85e0bd96e01 CLINVAR:90242 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57dcef1d-688a-4d43-9c79-ef1ca81583bc CLINVAR:90241 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31db5f54-67ba-4613-bcbd-c360b9037a92 CLINVAR:90241 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2daeea7-d608-4798-a569-87131f33861b CLINVAR:90245 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e0a7bef-4f51-43ce-afe8-4ce3699db532 CLINVAR:90245 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8cf731f-e919-4fbb-a318-d154386ee2bc CLINVAR:90247 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48000d59-669c-4650-8d74-6675a41fc7ce CLINVAR:90247 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b054dc3b-108e-4dd5-a2d9-d07aeda6e2d7 CLINVAR:90246 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 207b3e09-40b4-4993-8a03-dfb75c1dc9fe CLINVAR:90246 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ebd60adc-5560-4553-ae5e-31e3a0258668 CLINVAR:90250 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa35cf8e-6bd4-4e61-affe-55964232b2c8 CLINVAR:90250 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16b00358-5fad-4e13-92e6-33744f6f7754 CLINVAR:90249 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f736e157-26bd-4822-9a4b-ceb74ec99d7b CLINVAR:90249 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f3f1843-555e-43b0-8154-cbf69a311340 CLINVAR:90252 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 875cdcf9-788b-4b68-bbb7-443758399805 CLINVAR:90252 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d961064-d931-4854-aaf9-ed11764ad3c3 CLINVAR:90253 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80622883-a146-4902-9f82-2aa86ca29b11 CLINVAR:90253 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92bff0d5-1e29-44f0-bb86-2acd6bf752d0 CLINVAR:90255 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b3aa9f6-10bd-40d9-9015-e499e4564057 CLINVAR:90255 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aff3bfbf-0df8-4a67-968d-bb4eee623938 CLINVAR:90256 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12628069-dc30-46bf-a07a-ac72bdf7a81a CLINVAR:90256 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fde52bc5-1d33-413c-998d-f4bb9ed0e45d CLINVAR:633498 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfb92cda-7fe2-43c9-8464-cfb8ccab010c CLINVAR:633498 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 27e6502f-139f-4d23-b5d1-731496debd42 CLINVAR:633499 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 760a2504-88a1-4214-a221-a03197107c5f CLINVAR:633499 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07f72e30-32d5-4886-b26e-f0f460f4eef9 CLINVAR:90258 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3014e76-416c-4ec6-acb1-bd3666a5076b CLINVAR:90258 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d5cb0f8-93a1-4516-b2ee-aa8fd85f1495 CLINVAR:90264 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 042ae981-4005-429b-9900-d35146fc3203 CLINVAR:90264 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42f5e21d-e6c5-4014-87b3-42f6855cca61 CLINVAR:90259 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a42a0211-f9bc-4fe8-91fe-c320fbc9ad71 CLINVAR:90259 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 701dd870-92e8-40d8-897d-00f4233e3d9a CLINVAR:90260 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 783794a7-eb60-4b43-8f3c-8a3dfd60b8b1 CLINVAR:90260 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a1c8639-5093-4a78-a17f-43cbb4a544de CLINVAR:90268 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 408464e0-63ba-4aa8-8e54-f87ec47e0e4e CLINVAR:90268 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a51381e8-7801-4020-9ef8-c625e6227bd6 CLINVAR:90266 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4887d5e4-870a-4dbb-9af1-97f9dfe883e4 CLINVAR:90266 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 067f2e53-cf0a-41c0-8b54-89d7c3451cd7 CLINVAR:90267 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f77f2b4-9eb5-4062-9be4-d5dcc0034a6d CLINVAR:90267 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fe550a4-72d3-4da0-8a56-33d701dce238 CLINVAR:90265 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9e18890-ad85-48c6-82de-0fc0757ee2fc CLINVAR:90265 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fa52f23d-3969-41a1-8a81-bcc33ae69117 CLINVAR:90272 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbadecf4-d0a2-478a-bb32-167d3a637ffe CLINVAR:90272 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa6d4aeb-89cf-44b3-9771-cfcd4e39e5cb CLINVAR:90276 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60634c5a-7a65-4b89-a128-68f0213f6550 CLINVAR:90276 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 832b5a2a-e3bc-4c41-ac74-67ba4563255e CLINVAR:90278 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1581ff76-ecf8-47a9-be6c-b1c67fe9a78f CLINVAR:90278 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55c52296-6a56-4438-86a4-4de6192caabd CLINVAR:90287 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34c558a2-a72e-4dc1-8ef7-ee67833dcbf5 CLINVAR:90287 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78d715bd-89f8-4b79-ac18-35c4c2a886f5 CLINVAR:90279 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5343133-62fe-4aa6-a8a5-e9bbe357030b CLINVAR:90279 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72b41f09-4448-4777-b3ac-f7ce20402a96 CLINVAR:90281 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65f1bf64-bdc1-4573-9f5a-17b7b4d9ca78 CLINVAR:90281 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0106b3f6-32af-4827-8ffa-315c66de1d97 CLINVAR:90280 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c3790aa-2002-4810-b601-5d2598489385 CLINVAR:90280 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 420aa399-224f-4fd1-82ec-73737f394b38 CLINVAR:90282 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f7b8496-7308-4459-a270-16f27fe36b0b CLINVAR:90282 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d8fd542e-33de-42c8-b346-959886c98ade CLINVAR:90285 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38cbbcd7-2a46-4827-a342-b6e41af4a59b CLINVAR:90285 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59583b6e-3170-47a9-83f9-d14347e2af1f CLINVAR:90291 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5bed39cb-e1d8-4df2-9778-963016daf8fc CLINVAR:90291 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a758fa2-0229-41b6-b556-a7c02347d2d1 CLINVAR:90290 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4083434-005a-40c9-9cc1-79c916448af4 CLINVAR:90290 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 57345d1b-81aa-4c9f-a01b-64ed4985a9b0 CLINVAR:90294 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07982a86-c06b-4c4c-9860-11807b7fd540 CLINVAR:90294 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78c9377e-a398-4b67-b13f-e79be824cf13 CLINVAR:90299 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0cc45353-9f25-4bce-9727-3a671354dce9 CLINVAR:90299 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 413fc56f-57e1-4f1b-beeb-f535a6bee765 CLINVAR:90304 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38503155-0e1c-44c3-aca0-46ef38fe475d CLINVAR:90304 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bea6c0ff-dc2c-4af1-b0ed-02cd0b70057b CLINVAR:90308 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac643188-071b-48c7-b8fd-0914df9be3a9 CLINVAR:90308 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 66accf29-2f38-4575-8756-ebd45056a1c5 CLINVAR:90307 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f267354d-aea1-46cd-a6ef-03c883b47d78 CLINVAR:90307 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 250a7290-6385-423a-a302-72bf05ce6082 CLINVAR:90309 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5155b5c-b9df-4df1-9f80-b6eebbaa257d CLINVAR:90309 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b831acf-13ba-4abc-abd0-a8702a7a6dd2 CLINVAR:90310 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 997bf47b-f0a4-425f-a776-5240618b41a1 CLINVAR:90310 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a33874b4-f666-40ae-b687-25bc7689aad0 CLINVAR:17087 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3943212c-670d-442b-8bf6-4cb1de486c22 CLINVAR:17087 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9131ef95-81bb-4e08-b24b-e42d6ca15d02 CLINVAR:90313 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14761366-edd1-4671-85eb-99ad5b3089c0 CLINVAR:90313 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e78c5854-14cb-43a4-a2b8-d0d15ed85046 CLINVAR:90318 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8eceeca3-68a0-42c8-9a26-62d194163a77 CLINVAR:90318 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3df38a2-114c-4f38-9e74-a33b40f4a7be CLINVAR:90321 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc4ee347-d10f-47db-9681-acb984f4ff59 CLINVAR:90321 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 565a0a05-bde1-467b-b22b-15f2f32b4b22 CLINVAR:90319 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8feba6d0-dc55-4939-bd18-1a30d46cce3c CLINVAR:90319 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5f66a70d-f44b-4752-8b5d-136b43bae43b CLINVAR:90320 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7af6c1c2-99d4-452c-ad93-b11d128dfbf0 CLINVAR:90320 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a63565c2-8c80-4726-a876-4a357893e135 CLINVAR:90311 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b983e253-4d90-4a14-8b61-4d4db6ac2266 CLINVAR:90311 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 94600326-c978-4cb0-8e7b-a8cc69ede53e CLINVAR:90312 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5da52903-2bc0-43c6-96f6-21e46cca7192 CLINVAR:90312 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e59e911a-e0e6-46a0-8b3d-d2344eb43141 CLINVAR:90315 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c871bd2-acdf-448e-9812-eeffe2131d3f CLINVAR:90315 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd5baeb4-f2c0-451a-a494-b3fbe4af1e28 CLINVAR:90327 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f8b105e-ed5b-4f59-bd8d-6ac33fd27ec3 CLINVAR:90327 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc14cf1c-f343-410b-a571-79a9f5eeae14 CLINVAR:90326 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a17f61bd-69cc-4fe4-bfe2-d0c5b56be4ec CLINVAR:90326 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07a33207-a2a6-4bb0-a374-501397778d04 CLINVAR:90324 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 324ac61d-54f6-4d21-85c8-2608c5d129c3 CLINVAR:90324 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e632534a-cbdc-4a2f-b07e-6e51d39ea232 CLINVAR:90322 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c122867-bd13-41b9-8490-bd8a463c66a6 CLINVAR:90322 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cae34cde-7dd1-4dab-aef8-4b6326aad751 CLINVAR:90323 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a8036c0-e9b0-4fd5-bd3c-694066ee5b97 CLINVAR:90323 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3c56f349-4b8a-469d-b2f5-8706bd2c687b CLINVAR:90333 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ece9e14d-3dc6-4ad2-834a-24de633d61db CLINVAR:90333 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b4d30e1-7be4-4009-bd0f-ab2b15aa1ab3 CLINVAR:90334 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16989359-3de7-4fad-9a19-307f0070a20a CLINVAR:90334 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1d536da-a391-4c03-9990-b3bdb55bb395 CLINVAR:90338 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da5f4973-8b9d-42d2-98a4-1584f3bcd893 CLINVAR:90338 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a74f9496-4f6f-4128-80de-057f3ea6a649 CLINVAR:90341 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea7aeca8-c882-493b-8bcf-22ceea446862 CLINVAR:90341 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 588ea08c-f33a-45ab-bcb5-13851cc16aaf CLINVAR:90339 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07d585e3-a43c-433a-98ad-86f4d3960173 CLINVAR:90339 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ebda1ae-22df-4d2d-95ed-efe0743c8568 CLINVAR:90342 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0203b8d7-99d7-4b23-954b-1d49c2e9a574 CLINVAR:90342 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4033dda7-d334-4415-8632-8f3a0c77cf8f CLINVAR:90345 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0bae4173-ca36-4073-a0e5-684600590cfa CLINVAR:90345 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b96723b-9d8e-47f6-9997-d1995d08e91a CLINVAR:90350 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 822c2d69-e323-4f12-9846-0da8022abdbb CLINVAR:90350 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 601df3c2-9d79-4dc6-be5e-350b0515cbf1 CLINVAR:90352 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46b04ac0-de91-4bbf-9ee2-1dbbc51f19aa CLINVAR:90352 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6058903d-8a0d-4956-8618-aa2aeb06eb63 CLINVAR:90358 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 483b2732-9f64-4724-90ee-409e9167ab2c CLINVAR:90358 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c382a630-d5d7-40a4-912f-99c816d3e3e0 CLINVAR:90356 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbf2d6a5-a859-49c5-b0b2-e813ff5fd647 CLINVAR:90356 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a35e7962-0849-46a8-8a33-fdfeb6e4b947 CLINVAR:90357 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7490458a-e1ef-4e69-92b4-4f7c848e056b CLINVAR:90357 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9d750f59-6809-48ea-b397-0d3ebc791b8b CLINVAR:90361 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6dfda30-b4fb-487b-8b83-9f3e3e8df79c CLINVAR:90361 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17a3cb11-a99c-42cd-a214-68e12f2f8bc6 CLINVAR:90359 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 113f3e61-1a47-4fd9-9bd6-c032765ec5ac CLINVAR:90359 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel acccdd4f-55cd-4e3a-bfb7-d70045a86849 CLINVAR:90360 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a56c4399-71fc-4fca-95d1-30dfc73b4eed CLINVAR:90360 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07c38b2f-ff39-4723-9265-fad26f802a68 CLINVAR:90364 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aed12904-6a16-455d-9b82-333a19fad13e CLINVAR:90364 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9a695e8-ff22-4af9-a1d7-0ecb7f685dff CLINVAR:90375 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5acbcaeb-ba7e-44db-a750-e64fb259de9e CLINVAR:90375 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ad70c2c9-cfd4-474a-b3b8-85753c64d2fd CLINVAR:90373 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f1f1f05-02df-4e4c-9787-813b67c81c74 CLINVAR:90373 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5388b8e1-b5a3-4c9d-af7c-d843a76cc9fa CLINVAR:90374 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11cfd886-d459-4f50-8637-15f9aa8ae8e1 CLINVAR:90374 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 013d075b-8cef-4571-ac78-86b8148e9f12 CLINVAR:90372 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75bdeeec-9253-4a2b-a578-f9a67bf18ec3 CLINVAR:90372 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e2d93036-8103-40c8-beb0-9a81c013e24a CLINVAR:90379 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1978e861-da7d-42cb-a4e3-c6e77952749c CLINVAR:90379 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f0f4b9a-c196-4d9d-9b3b-6706f47302f5 CLINVAR:90369 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b8d91cb-2e02-4fcf-b265-24eafc1b2d08 CLINVAR:90369 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ced64af8-baa0-4f1c-a44b-e6e1be30e6b6 CLINVAR:90370 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0d1bf56-88b3-4796-a5ad-ad16b358f2c2 CLINVAR:90370 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f54a9bc3-ce2a-4c59-9392-8723e6f43cc7 CLINVAR:90380 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb336dfa-8b25-494b-83d0-6acb04d02ae4 CLINVAR:90380 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 337aaa91-beec-4d6d-ae14-2a83563db368 CLINVAR:29654 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb5cb8d1-12ae-4799-a258-ae4c78b1cf93 CLINVAR:29654 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 007a2a6f-5868-4f2e-8695-79dfbc9338f2 CLINVAR:433856 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ade91b4-1961-42c4-9d57-24f7011d223a CLINVAR:433856 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5c38d1d-2f5c-4a02-a1f1-e62b84d6e229 CLINVAR:17098 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f205ce5-7012-4041-89eb-86e91fcda233 CLINVAR:17098 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a6556ae-b68b-44b4-86b2-5a98539f2fd6 CLINVAR:90383 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 491d42e1-dad4-4fb7-a563-d57d9f220d43 CLINVAR:90383 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b26367d0-fcad-4649-b2f1-e9f51373f220 CLINVAR:90384 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01e78241-5539-4f90-a8dd-0671b9dd1bda CLINVAR:90384 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a01018a-9dc9-4140-9295-5400c6278aae CLINVAR:90386 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d99d52e2-a0e5-4411-9b50-91e8e1985cc7 CLINVAR:90386 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86bf22ac-5df0-467e-8bd6-1da59a928fa2 CLINVAR:520540 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29377e57-21e9-4f70-8575-850ff2c33bcf CLINVAR:520540 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75aa51a1-cfcc-41bb-b8fc-a08f13f492ae CLINVAR:90389 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89bbaf00-6c4c-44ca-bcaa-bccb454dc994 CLINVAR:90389 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0499400c-22b8-4807-bceb-1fb22a02b0c5 CLINVAR:90390 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c1ed617-5a5d-4e26-8072-13bcbecc4dc3 CLINVAR:90390 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b252c04-a0f4-4cf7-a4a5-40bd53e09235 CLINVAR:90393 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3a85653-c479-40cd-af44-d88a9c41d080 CLINVAR:90393 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34cb8dbf-d0df-4c23-a9ca-49fffc27dd8a CLINVAR:90399 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 456acae8-ce93-437e-a362-99fa372771b8 CLINVAR:90399 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b9e2469-7e3b-4ed3-a141-12f9acea55ee CLINVAR:90398 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08eece46-d5a7-48ce-bcac-5538de5f6de1 CLINVAR:90398 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33726b70-9f9a-496f-82e8-0e641b8200a1 CLINVAR:90396 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bdd901c-84a1-4c1d-ab7a-3e478f9bd0d1 CLINVAR:90396 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac907407-66c1-4f0a-97fb-96df302b0e4a CLINVAR:90395 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2a06232-36f0-4413-bd9b-1cfee2facee2 CLINVAR:90395 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 378f7025-0f67-4086-8a40-d40cf8a356d8 CLINVAR:90402 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 281a63ca-4e84-41ea-910d-16ca1546b6fa CLINVAR:90402 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4f6eb5f-f588-4425-b1e8-30d019b1ec83 CLINVAR:90401 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 083b55ea-ad1e-47cc-a3b2-ef5708c5840b CLINVAR:90401 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfa69b42-edc9-43bf-b04a-dfeec51c4fdc CLINVAR:90407 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a4e4880-4a63-47e0-b7b4-0e3ad5bf61fa CLINVAR:90407 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 953c7752-0f50-4216-9b0a-baee04af12f7 CLINVAR:90417 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 282f9bb0-0e67-4d98-9bc6-8d86166b2c67 CLINVAR:90417 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4fec8d5-4d23-4551-96e5-e0bef7f1f37d CLINVAR:90408 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 177223cd-f2f3-4298-847c-97d5c3e3d2d2 CLINVAR:90408 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77e7a8d9-435d-4265-9618-21a206cabbfa CLINVAR:90409 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ee4f3dd-2a72-4d40-9fb8-1c5428947207 CLINVAR:90409 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f6bb6a3-4889-4f2b-96df-be643a1cb4e9 CLINVAR:90415 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e0c2235-5f21-46c7-8f79-8f7d2218a017 CLINVAR:90415 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 786b6660-d470-4827-9058-26106c7e77d1 CLINVAR:90411 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f818eb0-2817-4107-9222-3b273dac6aab CLINVAR:90411 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f40f27f6-c89c-4a03-9a37-d4f9662ef196 CLINVAR:90414 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e769d68-1197-4627-bbba-a24b771da340 CLINVAR:90414 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d9b8481-dc25-4548-9410-dc2bbbb8ff56 CLINVAR:90423 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bfa0fe2-c7a8-4f73-bcd1-80cad2e34599 CLINVAR:90423 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc35ed08-e77d-416d-8fe6-c8716025a810 CLINVAR:90422 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cabd7b4c-6d6f-408d-a91b-5782e143032b CLINVAR:90422 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05540b91-8d26-418f-9384-dd3f022f6c78 CLINVAR:90419 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b89e8554-5509-4386-9f1e-1dbb38b7d5ad CLINVAR:90419 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba5e636d-3ff7-4b2d-b99d-db832362f887 CLINVAR:90421 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88550649-ffae-4693-b4b4-1234e81517f1 CLINVAR:90421 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 53cd04df-df3a-46b7-915a-cf7d57bce0f6 CLINVAR:90431 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55c63e36-67b3-4a5a-a97f-08c5eb58fe1c CLINVAR:90431 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45ce7e97-8956-4f06-bdef-d5d43c055b45 CLINVAR:90430 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3669add-3911-419d-8d5d-7eb76a39f4e0 CLINVAR:90430 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 988f5e6f-3242-4c8f-859a-60368030db33 CLINVAR:90432 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82be5c11-494f-4a16-ad8e-f8b75125f41c CLINVAR:90432 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 368575fe-8c25-4d0a-a80b-849a7d1434bc CLINVAR:90434 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5ad28a4-33c5-4f2c-96ae-fa7fd81a9c32 CLINVAR:90434 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a814f76a-0b98-41b8-a78a-60942d6d06b9 CLINVAR:90436 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f819854-5f9f-4755-b202-ae04672d999b CLINVAR:90436 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 958c5259-e88f-4a98-b79c-709105495144 CLINVAR:90435 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83c96f4f-e80d-4f88-b94a-3cefba466d55 CLINVAR:90435 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88667e67-d0d3-4dff-9412-60ca163f8a7c CLINVAR:90439 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a423dd0c-6d64-4846-bc5c-c678e762f559 CLINVAR:90439 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 405eb81e-f31a-4354-b9c8-5f496ea5e854 CLINVAR:90441 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ded93070-8be5-4a3d-8aa7-1ea76dca1c32 CLINVAR:90441 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 482779d8-50a1-4c99-865f-6c505b7aaa15 CLINVAR:90443 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d232b92b-dc5c-4c75-960a-b18b8b1dd205 CLINVAR:90443 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel abe0f102-e182-43f1-9680-f1dbb0ff677c CLINVAR:561172 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbec098c-1fd7-45f7-94e0-cdbf88dc0f8c CLINVAR:561172 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cab7cad8-b646-456e-8c0d-cce64eef1cb3 CLINVAR:90446 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b994bda-d1a9-42d0-860c-1e145a10d406 CLINVAR:90446 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2f26da4-9a61-467f-8962-7aab52218204 CLINVAR:230595 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f754adab-ec2b-49d0-a501-cf6ee3137655 CLINVAR:230595 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 57f5abca-9280-4480-aa5e-d9186b37c1bb CLINVAR:90448 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11abc3ab-3536-4d11-8fc8-933b24f0df87 CLINVAR:90448 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5481eeb-a4a1-45d9-841a-7900c5f82b65 CLINVAR:90449 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91ebc08b-adf5-4391-9694-3ad88a82f82c CLINVAR:90449 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8e8cb53-35a2-482f-ad33-e07d579a3d1e CLINVAR:90451 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc55694b-54b8-44f4-b522-8e9bffb16a00 CLINVAR:90451 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51a47bdb-8d67-430b-b18d-0903a18d889f CLINVAR:90453 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed5fa576-9ed1-4e8c-a337-02cbb59db050 CLINVAR:90453 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6ec56ad-fff8-46da-95f4-b36b20e4b3b3 CLINVAR:90458 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5275cc2b-90b4-41c1-a06a-e955a0f49762 CLINVAR:90458 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eaf48254-f269-4957-a537-db7dd0d79c6b CLINVAR:17085 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4be33b13-ae8d-4d47-82be-c90d6a83f91a CLINVAR:17085 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1a70fed-c2d6-4bf6-b4d3-640ccecd3368 CLINVAR:90460 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fd33f81-1a7a-418b-aee0-9b09d6f65679 CLINVAR:90460 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 32b51b66-8031-4c94-b8fa-f3d9a4c14e31 CLINVAR:90461 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dd268c0-80ab-48cb-b150-dfb5e47b3918 CLINVAR:90461 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f24de1d9-d5fc-488c-9a39-30c7bb4091ea CLINVAR:89602 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49fa72d5-388c-4eca-bfb9-4e24ee14ddf6 CLINVAR:89602 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b06fbed-2d72-44d6-8ff0-da0898e227d5 CLINVAR:89604 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e1d175c-2ff9-4e0a-adc7-ea7d9df8db6a CLINVAR:89604 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5f62e11-5655-4cd7-ba35-88bb4918801b CLINVAR:89603 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8484f82-468d-4376-9e0b-f68a14b4876f CLINVAR:89603 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cbf0e3d3-7474-4b1f-bc5f-3fd936ae95bb CLINVAR:89606 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1ae8eed-f443-49e6-ad8a-edaeab1fb5d4 CLINVAR:89606 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b3f5d5e-47db-43f3-b45f-11fed693930e CLINVAR:89607 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c13f9bb-58a4-46f3-9fb8-6b8d053dd675 CLINVAR:89607 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 612f25bf-d881-4a79-9d49-ca0e85122d04 CLINVAR:89608 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fcbafe1-ca14-49ba-aee0-658f6086b4b8 CLINVAR:89608 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0bbbf1c9-e45c-4229-a7ee-c4fe35aa9e81 CLINVAR:89610 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1c7756d-ef8a-4b05-98b6-88c088980eef CLINVAR:89610 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9784b2a-b825-4ce6-8044-a160fc1c8591 CLINVAR:89616 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca2e89a0-b899-4d74-88c6-0a81ebf8ff4b CLINVAR:89616 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88c2faaa-b45e-4b74-ac6a-73c150002fee CLINVAR:89617 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e63e3a75-9902-49e7-b65c-6b76b1fc48ac CLINVAR:89617 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5c39d5f-f174-4ae0-a1f7-5bbc4887d584 CLINVAR:89618 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2a6a556-02e0-4938-8cb6-426acafc7ce5 CLINVAR:89618 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22319d3e-ab5f-404a-a4d8-b615e60d922b CLINVAR:89613 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d94cdf93-defa-4901-8d48-fe63176fb3b7 CLINVAR:89613 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 56e7c767-28ee-4db8-bb01-ed972120b79e CLINVAR:89620 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f28bab6-8e23-4a25-ae34-e2c86ddf0cf1 CLINVAR:89620 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f899351-5c69-47ff-90b0-c4ad30179d22 CLINVAR:89624 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 870df75b-0d69-4fa9-a2d6-5b09d6a649e0 CLINVAR:89624 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 625e7c07-2bd4-4be1-a00a-07d36e3950fc CLINVAR:89621 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6161346b-d5ff-461e-b9bc-4a3ba9bab443 CLINVAR:89621 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 68f87012-abc2-47ca-bebd-a2420a974b26 CLINVAR:89622 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b60b9d5-82a5-4203-9566-be01402186f0 CLINVAR:89622 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 97158b70-5a56-406e-acbc-4bfa1fe371f1 CLINVAR:89619 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5b01fa6-43a5-499e-9408-7ca961d22a5a CLINVAR:89619 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20940457-4b5f-4caf-b01f-4b16764f1363 CLINVAR:89630 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e460720-64ac-4d8b-9516-f5367c5d889a CLINVAR:89630 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16134db8-b4e5-4fed-815d-a501ca41a082 CLINVAR:89633 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0baa382-43b7-42ae-abdb-98e75564b532 CLINVAR:89633 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df6a0ffc-0dd8-4a4f-8bdf-29f2b7507f8d CLINVAR:89635 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 289a8878-1d46-4e62-9021-e93bf01b2ed5 CLINVAR:89635 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 295230fc-7d27-47e2-a9b9-a172215ed717 CLINVAR:89636 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 817e39fc-49b9-4994-b07a-eda9853ea0a5 CLINVAR:89636 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7fd533f-9e9a-466f-a706-5132f4f4fa93 CLINVAR:89637 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0355664-201e-4ec9-9f8c-715033f8e619 CLINVAR:89637 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d843126-994c-4ab8-91d9-2f64f850df7b CLINVAR:89642 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f0b4e21-c0dd-4217-b0a9-42c7f74762ec CLINVAR:89642 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f900ff7-e70b-447e-9dee-ed6cdb7e77de CLINVAR:89644 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7e1f4dc-0f09-4521-8621-d2606a6eeb57 CLINVAR:89644 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 436c671c-b014-489d-be44-09a6f9e2d9d8 CLINVAR:89647 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4415b9c9-5957-4bb7-aee8-6fd26851ef04 CLINVAR:89647 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4448449a-5a5c-4b65-9c69-5bb8cb63dc41 CLINVAR:89650 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1273eb90-94d3-40fe-b133-71a3d7a5c1bc CLINVAR:89650 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 650f9427-e25b-4b61-9011-d98d46c52792 CLINVAR:89652 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c801acd9-980f-4f28-81e1-94a72519888f CLINVAR:89652 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96843353-f45a-4c29-ac00-9e2dd2915092 CLINVAR:89672 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67f94682-66e3-47f2-94d8-dde34c99937e CLINVAR:89672 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7a324fd-9fa9-4169-82f1-551daeda3d3b CLINVAR:89673 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8fe9194-a70b-4a46-aa41-a32662e4e7cf CLINVAR:89673 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35a731e8-d2dd-43f8-9d79-ab950c2f17e0 CLINVAR:89674 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 309e6535-0962-4a03-80ee-3d750596f571 CLINVAR:89674 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e608acde-a059-4357-9c25-1c17efa1668a CLINVAR:89679 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3692ff58-a668-4a87-89de-e9ab32e03fa5 CLINVAR:89679 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 95471db5-cb14-4a47-a4e2-83eaf9ec59ff CLINVAR:89678 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e8b0ea1-bbe6-412e-9c4b-bd8b8eaf1b34 CLINVAR:89678 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 885c259f-c4d8-4d76-943f-4d8a8dbe3590 CLINVAR:89680 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 284f1545-88af-4c12-a6e4-6e782a5379fd CLINVAR:89680 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a3e35b82-c159-4456-9f29-a85bec1b372e CLINVAR:89681 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b804bf8-1482-4312-b29a-481a88d78ab9 CLINVAR:89681 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aeb2131d-f68c-444d-b310-9118882a43e7 CLINVAR:89683 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 899bc3d4-f038-48e6-abf9-b91669fe1772 CLINVAR:89683 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9255741-a107-462c-9eef-859ce8b424db CLINVAR:89686 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e204f3e1-e1e9-44fd-b276-3593c70ec2a9 CLINVAR:89686 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38a6eaff-e5d0-4158-b164-df460aede44a CLINVAR:89689 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ad5cae1-5663-4631-81bb-4afb97a0ade0 CLINVAR:89689 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52ccae97-dbc0-4abb-a403-71be2afdc87f CLINVAR:89691 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c6a922b-5826-4d28-a736-1f1c59a63223 CLINVAR:89691 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 361d023d-cef6-4ebb-8966-1328f476e234 CLINVAR:89695 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e19ca0ca-9e62-433f-8307-11fa7ac50244 CLINVAR:89695 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90569d1a-eae5-4032-aecd-31e29e8788d5 CLINVAR:89699 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d1fa1d7-1e6b-47ab-99ad-5382f4f9985b CLINVAR:89699 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c10a7e3f-13b8-474f-824b-cfac047ced60 CLINVAR:89701 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69ca8e42-34df-4277-8113-45d2e5c66faa CLINVAR:89701 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16e329e4-13e4-4d3e-983b-debb646f3f18 CLINVAR:89703 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33ce833b-4311-4d68-899e-f3436eb26973 CLINVAR:89703 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db66d916-d70f-4351-9175-c4e45a91ee70 CLINVAR:89702 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34fac938-ca09-455f-af53-0be226a0a4f2 CLINVAR:89702 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63557471-0cd0-4ab6-8df4-ad9609d963c5 CLINVAR:89704 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f2c0abd-e4d2-492a-ac20-1542d8394ac2 CLINVAR:89704 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59e7ffdc-458d-4f2e-979c-2dac0e4bcec7 CLINVAR:89707 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df27cbd2-9a5d-4e67-9fc0-8c49906571b7 CLINVAR:89707 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24b89237-2141-472f-99b5-d0a3585f0869 CLINVAR:89706 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72fa43bb-d365-4d0b-b697-c677a266472f CLINVAR:89706 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1d56121-639b-4cdc-8566-26f6b9a901e9 CLINVAR:89709 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfdc8119-3eec-4d1a-883e-e42fb603196a CLINVAR:89709 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3af6791b-9719-4d02-8374-f8cdafaeff39 CLINVAR:89708 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b24025e8-ce3c-450e-aa6b-f1489cf16866 CLINVAR:89708 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0e124967-f9d7-40bb-8c65-f1e150a6a4df CLINVAR:89711 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b16037d3-75da-493c-be0f-dffe03478be2 CLINVAR:89711 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 302354ca-5fdc-47c6-8a0c-d56ea6801b62 CLINVAR:36540 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7241dc9-395c-43b8-9bd0-f3eab68ed36b CLINVAR:36540 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3f80a58-9086-4d77-98f0-1137b38780ef CLINVAR:89713 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bc6c44e-88ba-4171-b6b3-e4288933bf7d CLINVAR:89713 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c30fb447-7010-4a50-86e6-31d6bcc4f159 CLINVAR:89718 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7519c008-b1a9-4dff-b55d-7c0a894d716b CLINVAR:89718 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 43fbeef7-ad69-46dc-b49e-77dde76c04dc CLINVAR:89719 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f458d4a9-a27c-4c41-a603-74f34ae41c0c CLINVAR:89719 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cffa7682-a5cb-400b-83e6-2ca21d85e4e3 CLINVAR:89720 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70a60598-7727-47f4-80a9-a670d8b75335 CLINVAR:89720 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5858bdb6-b8fd-42e5-934c-5ff05214ef18 CLINVAR:89716 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bce611d5-5e92-4a73-9e13-8dab0a75efb8 CLINVAR:89716 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6683acf-421b-4978-b8bd-a464b204de09 CLINVAR:89717 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1d71503-0f38-494a-87ca-36cdc6e0569e CLINVAR:89717 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 293e06f9-40f4-430b-84a1-7152a084c956 CLINVAR:89727 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0a702f7-3160-4915-852d-d07ff89fa347 CLINVAR:89727 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8de2719b-5d67-49e0-8259-407dc0ae78c3 CLINVAR:89728 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 007c64bc-9848-45ce-bc1e-853c0aa7c51d CLINVAR:89728 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c39a5475-5375-491c-a344-88bd27a11ac9 CLINVAR:89734 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 016b7430-0826-4d77-b6e2-305535ec026a CLINVAR:89734 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7dc6d90f-8591-4a34-af07-5fadee1d370c CLINVAR:89733 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 676de4fb-66d0-4cff-bf4d-ffd9388e0f32 CLINVAR:89733 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf6b6352-3871-49b4-88fb-10ee50cffde4 CLINVAR:89730 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40064889-c521-4222-93e2-24875e61d2fb CLINVAR:89730 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a35ae2e-d957-4e5d-877f-2f7f4f3a17e3 CLINVAR:89731 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e7318e8-7e4a-4749-8824-409ec1b01c0f CLINVAR:89731 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82fb337f-a149-4cbc-8e25-c15a44177bd1 CLINVAR:89736 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 608cbeb3-dfb8-4fdd-b3e3-cfcdf991d2ea CLINVAR:89736 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54080f5e-66ec-4258-b624-cbbacacf5700 CLINVAR:89740 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac71d193-ccce-43ad-8c38-859c11b9e09f CLINVAR:89740 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e2e62af-9736-48f9-9c9c-446d6319d0f2 CLINVAR:89744 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a13146a5-6c5a-4862-9b82-5620886ddde1 CLINVAR:89744 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d79d1e6-076d-4542-b7d6-5dae17d1dc60 CLINVAR:89748 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f605bc0-c88f-4e09-9e28-26cb0fd93392 CLINVAR:89748 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4925ab35-dbfc-457a-b3ed-c15850ab14d7 CLINVAR:89747 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e875326e-2bd7-4011-9f5c-c7ac14c580ac CLINVAR:89747 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96c9e564-20ed-4ddd-bdbd-4b369dd2f42d CLINVAR:89746 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b81c6ab0-eeb5-4328-9a3b-9dd20edf46b7 CLINVAR:89746 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1bae0730-6f36-4f7d-9f55-c1337227716c CLINVAR:89753 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01f2aa28-df57-4ea2-a61c-dd161665f82d CLINVAR:89753 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36a07a98-06fa-43bc-9f40-aaf95c941328 CLINVAR:89752 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6265984-2dc6-4b40-8548-5db621c8eb23 CLINVAR:89752 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c347eab-97df-483c-a4a0-c1011002b65c CLINVAR:89754 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff9864eb-cbf1-44a5-a69d-a2781b30adcb CLINVAR:89754 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72117008-ba45-4225-842c-97901a2498cd CLINVAR:89759 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bcddb86-6e87-43d1-ae1c-b194ff56a5a3 CLINVAR:89759 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 978b1a62-a060-48ef-9bf2-eb90a6f48ad7 CLINVAR:89758 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7f6e4da-5d39-44cb-8a7f-625835d92be1 CLINVAR:89758 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 868152cd-bfed-4a98-8a25-2dc4c4b6773f CLINVAR:89761 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c296a359-c997-4f16-aa2b-e63d19a52a43 CLINVAR:89761 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3693fdc9-c622-47fb-95e1-17d155682399 CLINVAR:89762 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e265b07-d1ef-4a9e-9a7d-d042a1a28e14 CLINVAR:89762 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82f77739-470d-4553-9155-3295bbc24285 CLINVAR:89764 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cba0aab3-9bf6-4865-b777-234bc976946b CLINVAR:89764 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e827f689-e62e-4c3c-8cc3-8d3337dc4a1e CLINVAR:89765 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e38364c-ac11-4a9d-93ca-dc193371a8c6 CLINVAR:89765 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d413e3b3-68ea-4937-9f9a-a3c896617155 CLINVAR:89767 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8481920-4192-46cf-9a16-1b5f88423e83 CLINVAR:89767 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d5347c8-f3eb-44f4-8be5-eee39e03485e CLINVAR:89766 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdec5ae5-87a1-4cff-8739-eb34e08f6da3 CLINVAR:89766 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7b415de-75cb-425e-9be7-def825e9d4de CLINVAR:89768 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc3fc5cc-557d-419a-8d69-77d545b13df8 CLINVAR:89768 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00c56e66-466c-497d-8760-0664571a59cf CLINVAR:89769 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8acdfdad-1bd0-4e43-983f-4d5be47175d0 CLINVAR:89769 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 255c8c26-f079-4070-836b-6c98993efc56 CLINVAR:89772 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac902486-965d-4a13-9ebd-60824af3fd3a CLINVAR:89772 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c33cda2c-5804-4667-9fc4-3fc7cb74d9df CLINVAR:89774 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f4cd588-096a-4259-8fe3-6e192ba1cfa5 CLINVAR:89774 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b9f38e39-eed3-4999-8e3a-67cb5429f649 CLINVAR:89778 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6e3388c-b180-4899-af00-b75845b3ce2c CLINVAR:89778 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d92cf8a8-1d89-41b2-b090-7a9dfcc5727e CLINVAR:89782 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 361258b8-8142-42ab-ba9e-9bf0857823fd CLINVAR:89782 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4ede9e63-382e-45e8-90a8-691bf96987c2 CLINVAR:89783 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0157e9f2-e8be-4ddd-b771-a7e449bc9ea7 CLINVAR:89783 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f7d26e5-59dc-463f-92a5-2204f7b0ece1 CLINVAR:89784 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddc7e266-d8fc-481b-9e52-87894a62e2db CLINVAR:89784 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9ed7a0e-71ef-4e6f-bd29-fff2bbb61831 CLINVAR:89779 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7de94761-de75-474b-bd6e-f67d6cb70308 CLINVAR:89779 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aabe3cba-c105-4739-914d-5d9716666a8d CLINVAR:89780 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32a316e1-23aa-4c2a-ae33-bffaf3a7cf15 CLINVAR:89780 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4d1f9b3c-f418-4aec-9140-aab5126dd567 CLINVAR:89781 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0620162-736e-45da-b923-8838dc4a297a CLINVAR:89781 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b26f5f2-e387-4798-bf02-e8ce650ed1c4 CLINVAR:89795 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11ce916d-4988-4e41-8789-457751b48750 CLINVAR:89795 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1da3ed86-8de7-42e3-a608-13cd4b18ab52 CLINVAR:89796 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8739264c-b904-4b90-802f-5d4d8f1c22b7 CLINVAR:89796 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ddd75d9-dfbe-4a41-aaf2-1f4afadc8a64 CLINVAR:89797 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5eb2aca-f05c-437b-bc01-3d793c7ad9a4 CLINVAR:89797 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0fd01f99-e3b5-405e-9789-4eb17c9a613b CLINVAR:89798 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbb05b64-f2a8-4a8c-a606-b1fcdba35091 CLINVAR:89798 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63ba3a4c-5efc-4574-8ab0-87e93134ec8f CLINVAR:89799 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c98e8980-a0f9-441b-a417-85421640c865 CLINVAR:89799 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f37a4058-74d6-4289-aa56-a76851bf1e43 CLINVAR:89801 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd005f6f-7eed-4d33-b519-3353221cdbd1 CLINVAR:89801 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05703973-44c0-46d4-a67c-d4f06157c0d7 CLINVAR:89802 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1610d563-f272-47e6-ab19-fdf1ac38fe3d CLINVAR:89802 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b895d7f-5d5d-4493-a59b-fc1504957531 CLINVAR:89803 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar daaf0099-5654-41be-b04c-bd90d3eb79d8 CLINVAR:89803 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a431ac6c-0a21-4777-89c9-3d920a8c7fde CLINVAR:89807 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94c19e11-1708-4767-b21c-bbaca88ac8ef CLINVAR:89807 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f3ac6bf-d425-40a2-bd20-33fc62f664d3 CLINVAR:89808 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3ba36da-3661-4e73-8877-4a908cbe707f CLINVAR:89808 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7aa69ff4-805d-4623-9830-581c2609fd21 CLINVAR:89809 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fc64a35-098a-4d25-9b51-9b3218ea6664 CLINVAR:89809 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39c90982-d098-4c14-949a-d9fb9887ac69 CLINVAR:89813 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e29821ff-cef4-4096-b22f-a016518317f9 CLINVAR:89813 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2a7614e-d1c8-4ec0-9bee-85370c511320 CLINVAR:89814 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e8be038-9499-4040-b8f6-8cc57707d4a2 CLINVAR:89814 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3baca7d-bb1d-4122-86f8-64f4d4dcb9f4 CLINVAR:89815 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4d51517-ae60-437a-a0e9-719981ebb742 CLINVAR:89815 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 533e146b-a4aa-4895-b3f0-9538d8808ff5 CLINVAR:89818 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be328c39-476e-43a1-8bb9-e570a891a842 CLINVAR:89818 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aade18f6-0e23-4ee2-838d-0e284dd72e13 CLINVAR:89823 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a8bef7b-1100-4946-95cb-2ee703919552 CLINVAR:89823 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8573d625-36d1-43c0-9453-133193e4e7ef CLINVAR:89822 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e2756e4-f4dc-4e16-9f78-f47da8ed1fef CLINVAR:89822 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4c16ee73-a49b-4ba7-afcd-337231025c0a CLINVAR:89825 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc828b6b-3077-4d4a-83ff-a6ced1f8de03 CLINVAR:89825 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ccf91f5-18da-4cea-abc8-29319e693b54 CLINVAR:89824 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa969139-9009-4cac-91c8-b05c21169308 CLINVAR:89824 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d84078a3-5c15-4e06-a0f3-74f90851facc CLINVAR:89829 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5151a00a-3c87-4091-8030-f18b72b31eaa CLINVAR:89829 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 11635074-8a36-4ec1-9d86-25838e70c03f CLINVAR:89826 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cfc2997-bb38-436b-b3b8-c065789dbcba CLINVAR:89826 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3b45ece7-5919-4370-bed5-8e5cdb3a78be CLINVAR:89827 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93ce6a90-426c-46b9-9d18-9619fd567e93 CLINVAR:89827 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 426f2ee7-a436-45b6-9cfb-fa89914c109c CLINVAR:89833 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c87d2a9f-8ba4-4a58-a470-da3648d32405 CLINVAR:89833 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4e7860f-ce2e-4f1e-9132-e4eb4744299b CLINVAR:89834 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a5312ec-1657-42f3-9336-08c03ea15d69 CLINVAR:89834 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d98ed973-c2ed-4024-9af7-d45c408f084d CLINVAR:89835 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7884856c-ff63-42b9-884f-df985c4a1207 CLINVAR:89835 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3dc8a8c-8642-4570-ad81-654fb1160a1d CLINVAR:219290 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78ebed51-3fb9-460b-b99a-6c597dc2da68 CLINVAR:219290 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 14784a2d-9a36-44cc-9210-3913de33edb8 CLINVAR:89838 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df983336-b032-42d5-9de3-44f573c9a137 CLINVAR:89838 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 552bcf03-7474-4dd0-8578-b754e5915a34 CLINVAR:89839 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efac9cba-2376-457b-b581-d54bbb0866eb CLINVAR:89839 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65dd9148-acf7-4185-9ab4-a7e8fedf3e44 CLINVAR:89840 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e68fb758-c296-44ce-949e-5eebf9d35559 CLINVAR:89840 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d336e8d-75ba-49a8-ba92-5569432ff98a CLINVAR:89841 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af9a307c-18f5-4a4a-ba38-35f4a444e592 CLINVAR:89841 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db5257c4-8db2-4891-9472-871808b36caa CLINVAR:89845 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03adf5b2-59fa-4c3a-8f25-6a1aeea2e529 CLINVAR:89845 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a88d716-f84a-4806-8dbc-3a2b7871d3ae CLINVAR:89846 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b577fea6-66b5-4e31-a061-aa7fe9d44822 CLINVAR:89846 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 850e03e9-b23b-4b8f-a24b-50dcfb785d62 CLINVAR:89847 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9056b09c-0677-4c2e-abbf-068b83722c75 CLINVAR:89847 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8907cc2-00fb-467f-ad8a-d7de8521d7d7 CLINVAR:89857 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91a430db-a72c-41b0-b215-444f3aa15958 CLINVAR:89857 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5dd5e7a6-3d0d-4e13-a522-2c08eb1c384c CLINVAR:89848 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9249879a-2f35-4252-8e32-74ddc5056af1 CLINVAR:89848 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf70e75c-68db-4007-961c-ab4d2f146737 CLINVAR:89849 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38c2004c-d4ea-41eb-9c23-2c6b41d7fcf1 CLINVAR:89849 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ddbed4e4-b115-44c0-9f28-c5fbd5801802 CLINVAR:89850 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0260a4d4-0bf7-42a4-88fd-b0ed8c7aea9d CLINVAR:89850 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9e2ee54b-d852-4be0-b39f-6a6cc62cd419 CLINVAR:89852 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a423d6c-9bcd-4196-a38b-92a81bf17e42 CLINVAR:89852 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel be0469dc-a40a-47d9-aee3-599d4b09ba63 CLINVAR:89853 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 329358b3-e9c7-4d5c-b78b-27f3d4b1f4dd CLINVAR:89853 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6693adfb-2ffd-4bc8-a557-61d4ce7840f5 CLINVAR:89854 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 851418a3-117b-4edc-8397-2b9e80c29ce7 CLINVAR:89854 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79266d3b-7596-4105-9663-4e7a5a6ea46e CLINVAR:89851 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66f88584-36f1-4ca4-afc4-4886273df479 CLINVAR:89851 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55f37a80-a3f2-4497-a157-663f4202cb2f CLINVAR:89856 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a96046d-ae0a-4e82-84d8-5fe4db5d7e5c CLINVAR:89856 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 334eef95-e6a7-4a79-8b2a-967d6b2998d5 CLINVAR:89860 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c663579-cc1b-4a3b-b9e5-7479ba8abc2b CLINVAR:89860 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2b56cf3-7ae8-4b03-a48f-20429e4fe790 CLINVAR:89861 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04c36174-730f-42c1-aa4c-b598bc2383a3 CLINVAR:89861 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel befe082a-9638-4ed2-b004-5a7a1d4f7154 CLINVAR:89862 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db8eed60-a309-4724-9c95-0d80008c5c9a CLINVAR:89862 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6dc095de-5e8a-4210-be16-5736391a883e CLINVAR:89859 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9ddefcf-8d6a-445e-a9ad-cebf01b9d665 CLINVAR:89859 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c73ad2f-5deb-4729-9072-614e46f846fe CLINVAR:89872 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f371ce4a-d949-4f0f-8c22-592b941f5a48 CLINVAR:89872 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 946ec01d-b44c-4882-a766-347e83a9a66a CLINVAR:89871 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 766d3ab2-3227-44db-8d18-c9a198af14b6 CLINVAR:89871 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf21579b-fc43-4b22-b118-edeac3635e16 CLINVAR:89874 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51516618-be47-4d93-b0d0-576889ab9ee5 CLINVAR:89874 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83d58b4a-3dec-448f-8223-03d17ea8ca53 CLINVAR:89873 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea46fc77-1bfc-4ba3-808a-a0c933867d07 CLINVAR:89873 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ff8b580-6344-4be2-95fc-6038e4568ef7 CLINVAR:89879 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56b02775-64d6-4f09-8d34-4cfd1f131102 CLINVAR:89879 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fbca692-698a-46ca-9775-e73819badda1 CLINVAR:89878 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0aa96c1-dc14-4fb7-a74f-99b7ef7f8a31 CLINVAR:89878 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0582eb86-79de-4bd3-b3d1-39fef0601df2 CLINVAR:89883 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7fe11fc-b76e-4981-b50f-2eac74ac0055 CLINVAR:89883 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04e0c0c4-6d54-4ca3-a0f1-94a836d0f8fe CLINVAR:89884 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0a369d9-4cef-44d6-be73-8ea7b21cfc83 CLINVAR:89884 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f61aed75-f30f-4c9d-9a90-552d57a1777e CLINVAR:89885 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c457ffe-39f0-4c2a-9bbc-548d6ae8b16f CLINVAR:89885 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8adee365-4285-48bc-97ac-b31ab70222fd CLINVAR:89886 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d27bfdb1-4fd3-437c-8356-b6bd47ea3b60 CLINVAR:89886 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b687e836-d52b-4efe-a277-71f0f29a76e4 CLINVAR:89887 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46808326-0344-4dec-b208-4d490d3f39ec CLINVAR:89887 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 198e0f0f-a945-4896-bd6c-c9423d343863 CLINVAR:89888 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38d49d24-4d8d-4304-b7ef-1930581305b3 CLINVAR:89888 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d7accb3-f5cc-4c56-aa0e-628566a78f64 CLINVAR:89889 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cae9c3d5-0c0b-4c8d-ae46-0437ee1e5cf9 CLINVAR:89889 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59db94ac-3853-4f08-be94-125f265c5a86 CLINVAR:89891 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 838b0a2a-8992-49e0-8f51-187891398fe5 CLINVAR:89891 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd7a6689-fc80-437a-88e4-dc2c16cce688 CLINVAR:89894 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c402342-4a99-45b3-a3ef-257f1213d8d8 CLINVAR:89894 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 271a5d22-10db-4a6e-8a9b-91c716218c63 CLINVAR:89893 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c5a7df7-d60b-4cce-831d-2d64c91d9194 CLINVAR:89893 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2fa11379-c8a3-425e-99a6-2919338831b0 CLINVAR:89896 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9aa440a-eaa4-42a6-81a2-b0c530afde28 CLINVAR:89896 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 156962ba-7239-4f28-93c0-35d77b31a522 CLINVAR:89898 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 858bd1f6-b058-4fa3-9791-83e26a44c8c0 CLINVAR:89898 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71d35c0f-51c3-40c6-842b-f5547f98b794 CLINVAR:89899 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5628ecb7-f4a5-40a3-95b4-8a3d5d89f4fa CLINVAR:89899 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74ed39aa-1cb5-4018-b761-85e2640d752d CLINVAR:89900 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1954a418-5017-4620-b2c6-ab4f7c43124e CLINVAR:89900 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3541f68a-70e6-46c9-a7d8-55c9ec7a74c0 CLINVAR:17080 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22bde06d-cb1a-4299-b743-0995828081b8 CLINVAR:17080 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel adf781fb-d75f-4520-8912-3f670a00dbdc CLINVAR:89904 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6465b2ea-0ed4-4a14-8fff-f1575f38f26f CLINVAR:89904 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37148f18-0080-4e93-aa21-16d510ffe9c9 CLINVAR:89908 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c8bed84-d41e-418f-8c41-155928e58022 CLINVAR:89908 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ad741ed-5db8-4f7c-9075-4f7cbd070a07 CLINVAR:89910 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff3a20a6-696c-4c59-9858-6da368fbcf85 CLINVAR:89910 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6882d20-5ab5-4039-9ea6-fd369de7590c CLINVAR:89909 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27ea0279-391c-40b4-b1b1-56e473e8105e CLINVAR:89909 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 478406f5-0a42-4dc3-af2d-b7f4183c2eb8 CLINVAR:89912 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7336d38e-b546-434d-b682-96c82f4b9f4a CLINVAR:89912 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef018755-4642-4c22-bad8-b7f00e4b3a5c CLINVAR:29657 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1df8ff4a-a697-49b7-b85c-14a20aebbb21 CLINVAR:29657 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd72954b-531d-4213-971d-988a86c7359c CLINVAR:89911 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d2e83ca-8415-463d-82fc-e60ffc81473d CLINVAR:89911 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fd79168-726d-4405-b1cd-472de65767ab CLINVAR:89917 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4556f65a-73e8-4aaf-a08a-360733ffa34b CLINVAR:89917 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc26ff8a-7272-417c-935f-01a7706f0a7c CLINVAR:89916 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a529f3c3-ab93-491f-9dae-66b6af08388c CLINVAR:89916 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98193ecb-9dac-403d-9fe8-f0a23d08ad4f CLINVAR:89914 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3c2997d-a43e-434d-9d31-046b7c4aa7ae CLINVAR:89914 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 364b074b-0b24-4239-a5c1-920b4de49026 CLINVAR:89921 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 875f0b2d-18af-4da1-8787-b67990c30e8c CLINVAR:89921 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 538e9dea-c0d6-4361-b055-13028827a820 CLINVAR:89922 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7708722-8402-4f20-a497-bb2c10e42a90 CLINVAR:89922 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 637301dc-ae39-49c5-88ff-c35ad246a38d CLINVAR:89924 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e5ad76a-d329-41e3-8c72-a78175f76ca0 CLINVAR:89924 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99f05beb-ba38-4b0b-bfc8-a66dacc029f0 CLINVAR:89927 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3491624-e0ff-44a4-900c-00bcad3ae268 CLINVAR:89927 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 48115c88-f39b-4fae-861f-5871ba4d70d5 CLINVAR:89930 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfea50c7-985b-44b4-82c3-857aa24c8bd5 CLINVAR:89930 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2043696a-f8e7-4b95-ac3c-ce11af11944c CLINVAR:89925 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd5cc0a2-2960-4d4a-9adb-bbf3083bb299 CLINVAR:89925 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 36e604e9-93b1-450a-b9be-545486cd9e24 CLINVAR:89926 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53b649f2-2fae-4f81-9791-fa0eface7d3d CLINVAR:89926 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 818a17c4-8de2-43a5-8d66-0be2c4d31cd9 CLINVAR:89928 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1bd5950-a468-442b-87e6-047532d21c7d CLINVAR:89928 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8a797cf2-bec1-4837-894d-64f76f72202f CLINVAR:89932 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6661436-cccb-4064-80f0-093842641294 CLINVAR:89932 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 59aa09a0-192e-4f41-bce4-448821aa84e5 CLINVAR:89936 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e775a71-d37a-46cb-a210-3645e0989779 CLINVAR:89936 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ccf4db29-f9be-4ceb-a884-f2679758c298 CLINVAR:89938 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc2f26e7-cc07-4aea-b3e4-874004ff36da CLINVAR:89938 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7de25a09-d429-4b3c-82b6-f2a961a8a907 CLINVAR:89942 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7942ec8-b58e-4296-b50b-1ce26cd11089 CLINVAR:89942 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec2dbce8-3689-422d-b0de-fda273e02af1 CLINVAR:89943 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2fb96d0-f3cd-4267-8cb4-5f0a39e06774 CLINVAR:89943 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0e0bd51b-0417-43cc-88ce-a8e602c5abba CLINVAR:89944 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33af703b-18ff-4316-abe3-25e57375b26d CLINVAR:89944 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc0917a7-9e22-459e-a44e-dd5e17b02dbd CLINVAR:89945 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e59cf10e-7af3-4567-b4df-f9a05cc309ee CLINVAR:89945 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0fb00d3e-feb9-4c60-a4fe-b645d06cf83c CLINVAR:89949 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b84a56f-17a7-49f8-80fa-6e45336a3671 CLINVAR:89949 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1f0d04e-a869-4909-bffc-d2bd6e79bb0e CLINVAR:89950 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 923b99c8-6ae4-491d-8ae4-9ebbf3ae64f4 CLINVAR:89950 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 678a970a-de3e-41ed-bb39-186fa35baa9b CLINVAR:89954 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 502be54d-36c9-4ce5-b5a8-9de57225fad4 CLINVAR:89954 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d775b38-8bef-4d56-9fc1-cb7e6c7b1dc7 CLINVAR:17097 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar beb5b928-07e3-46ea-b3e3-1b9dd3c3a650 CLINVAR:17097 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d43d3fd0-5ac4-418a-a504-23eb311809df CLINVAR:89953 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00cc20e8-8115-440a-8a2f-4640e7b14cf0 CLINVAR:89953 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e5c67922-7c8d-481d-9ffd-27b4f8519a65 CLINVAR:89956 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3071a7f-bf9c-453a-aaa5-be9f16d0a455 CLINVAR:89956 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b075ad41-bd71-4551-9214-3a5344229d2b CLINVAR:89957 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 179b0518-f621-4c76-b72d-2bbc6d67ffd8 CLINVAR:89957 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5fbbdeac-c1bf-45ca-9d40-2afebd722333 CLINVAR:89959 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a2ee752-96e3-4d3c-83e3-cfa9b29a3afc CLINVAR:89959 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1e69e8f-0efc-458a-aac4-d56fdef3156b CLINVAR:89961 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee6126d0-71b0-49e8-a0b7-260818f058cb CLINVAR:89961 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2119fa05-e358-4506-ae8b-37512d66b45d CLINVAR:89963 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76148413-1d7c-4c1c-b9b3-96e0edffa998 CLINVAR:89963 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1c8fd2c-ec01-4f7d-9a6d-c3206fa08866 CLINVAR:89962 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f96b40e5-1d87-442f-bd29-f5b57c114fed CLINVAR:89962 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16b932fa-0d69-48bc-8e7c-afc61b210b96 CLINVAR:89967 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 841eb7e7-d27f-48f2-be4d-95ebfa427f8e CLINVAR:89967 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6e33f47-2659-410c-b30b-ef5f6a53f4f0 CLINVAR:89965 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a874470a-4305-4c2e-a103-7dfd9a16ee27 CLINVAR:89965 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e96bc007-1c26-4ffa-b341-2f13275ce89b CLINVAR:89966 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc419d20-c14f-4686-a766-ca005c4524c1 CLINVAR:89966 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2cc8953f-9b37-4d84-9658-0bef7e79838f CLINVAR:89968 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30f43b25-7253-42ca-a4ab-93afe4c18349 CLINVAR:89968 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a12a1288-399a-4581-94a9-d72213dee871 CLINVAR:89969 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96d48d32-2510-49d1-bd1f-ce7f3636e045 CLINVAR:89969 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c0dadd0-8521-401e-9a75-1fb0ea346146 CLINVAR:89972 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abe0162b-82ca-44e1-ba1d-1a032e29fad0 CLINVAR:89972 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54495521-78d8-4569-91e4-0580be5f5a7f CLINVAR:89979 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c136241-3884-4397-b8c7-097920e54973 CLINVAR:89979 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2cae0bc-cd86-4e7b-9e36-3b60a975b820 CLINVAR:89980 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f74d434-dce0-4bfe-9536-e477c989aee1 CLINVAR:89980 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a227744-afc4-4a85-bf18-25dcde0014cd CLINVAR:89973 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69a871ef-58c5-428e-b66f-407642ba1772 CLINVAR:89973 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81dc9096-15f0-4586-9766-866f473fd5d0 CLINVAR:89974 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd28483e-1d24-4ddd-a48e-f00717740790 CLINVAR:89974 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 35b3677b-e57b-456f-b8cc-7af8cccb9b4d CLINVAR:89975 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 358bad3d-cc58-4b9a-ad72-9f801ce69362 CLINVAR:89975 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79f6ea68-9a7a-4783-8029-1584aa940bfc CLINVAR:89984 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b3a79bf-f93c-470f-b5c4-7b82fcf39185 CLINVAR:89984 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8b358e48-6068-4548-b2ad-6650bd7a6ecd CLINVAR:89987 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 786957b8-6901-4594-9ac3-e4944f0fef61 CLINVAR:89987 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5142971-13e4-4544-8a68-2228611bea76 CLINVAR:89985 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d79f097d-3c33-48c6-b227-427daeb5ba05 CLINVAR:89985 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 975dd46e-5881-4fe0-b10b-792772422f43 CLINVAR:89986 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94113e51-623f-477c-bd38-5c75e16ad7e3 CLINVAR:89986 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 678224ff-2081-40a1-ac10-087365ef5971 CLINVAR:89991 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3e5d664-e009-4267-8dcb-1ee500b64357 CLINVAR:89991 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd05eaab-1fa2-42fc-af80-a7a278b86580 CLINVAR:89995 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e853a80-d951-4477-a9a8-a4b0f106bc97 CLINVAR:89995 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3140da8f-f31c-44db-a364-a5b028bff100 CLINVAR:89997 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a96c2d7-dccd-49cd-9b5b-29ee427fcf0e CLINVAR:89997 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e206783-d124-4991-a913-a138c8ec6817 CLINVAR:89998 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af9d2d49-051e-487e-b76a-30c9e153c4f0 CLINVAR:89998 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02555b0f-6a6e-4086-ba0c-54c09713a0f1 CLINVAR:89999 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7adfd80-2803-43e2-b3af-3cbb52b86f0c CLINVAR:89999 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b69684fa-7377-4bb3-84d0-316376ee20dc CLINVAR:90005 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea388709-0036-478b-8f52-44d04a3d3443 CLINVAR:90005 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfacbfaa-db07-4905-8aa8-7befc5150c12 CLINVAR:90006 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41f292ff-cc16-4437-a006-edc72ed59ab7 CLINVAR:90006 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6738b7c6-8d8f-49aa-b81d-a788a29da4ff CLINVAR:90009 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19bcfe48-e396-4b3c-bcce-706f904fa2df CLINVAR:90009 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b11f4c24-aa30-4301-ad99-b42ff51b3a06 CLINVAR:17099 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9e52172-f715-45bb-944f-ab35a1ed6aca CLINVAR:17099 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8242ee36-5080-4a43-8022-9f8f0c9b058d CLINVAR:90012 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99b62260-da64-48cd-b7b6-e2fa857d2304 CLINVAR:90012 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7f120cf4-81bf-43b6-a3a0-414a761a64bc CLINVAR:90014 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa8651eb-596d-4b79-808a-80d99587fdc7 CLINVAR:90014 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1ea4347-7605-41f3-8bab-46d207642b05 CLINVAR:90017 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efe1d93f-e084-44a2-83e7-b7f552a8bdd4 CLINVAR:90017 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 357bc1c7-0f7d-43c7-a0bc-8fddabfd7583 CLINVAR:90025 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d020c63-c7ad-41ec-9aac-b2e0897e9408 CLINVAR:90025 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa2db7dc-2eae-455c-897d-a9e1bafe8f4b CLINVAR:90026 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4338dad9-2b62-4765-8696-594db85005d4 CLINVAR:90026 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 856ba74b-ad5f-4696-bf1f-ab8764a8af47 CLINVAR:90038 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54636898-6041-43ab-88fe-ab471b13d1d2 CLINVAR:90038 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 213a082f-fa28-49dc-bb91-9245054c048e CLINVAR:90039 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c83bfc7-9c1f-4566-bef9-d42c28b53c1a CLINVAR:90039 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47b450dc-a375-47e4-8c45-e7f7a6998484 CLINVAR:90040 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0886578a-0768-4750-bbd5-5a13bec73948 CLINVAR:90040 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b7ca2b5-ae8f-4df9-a452-a58894c9be0d CLINVAR:90041 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar deed8021-62d3-4ab1-bed7-9ae6e7080837 CLINVAR:90041 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a531cc25-4887-4fa7-8478-f33663ce7bd9 CLINVAR:90043 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e14531fb-65b2-4e01-b480-925848302ef7 CLINVAR:90043 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc1fe5de-47b8-4d23-9354-72721bdc5767 CLINVAR:90049 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c856edf7-ab57-4e98-9d9a-08a102db098a CLINVAR:90049 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e85176a-59ee-4c9f-9a81-0c5f732a592e CLINVAR:90044 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08e5ea67-c83b-4658-93f6-cdd7525c8e1f CLINVAR:90044 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43731c6a-4a99-4069-a820-868551e01df8 CLINVAR:90045 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85109187-352b-4b7c-b5f7-4314fe002474 CLINVAR:90045 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d3183b5d-ccc0-4939-ae35-2e12df5199a6 CLINVAR:90046 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc90d467-c071-47c7-873b-df15c577364b CLINVAR:90046 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7b3facd9-b57c-45b3-a74b-f027fddb4a8e CLINVAR:90059 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d309013-6b95-4655-8031-1623fdb126b7 CLINVAR:90059 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ea44f31-0707-4e0a-a13c-f79fb78d347f CLINVAR:90054 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e44f29f-e217-4c5b-8764-73d93eb451e0 CLINVAR:90054 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 71d0a0b2-aed2-4de9-8ab7-c7f421e55823 CLINVAR:90055 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8207239-1ee0-46c4-9163-e418305b4a64 CLINVAR:90055 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bf978a4-978b-4682-82a1-d9e943fe273a CLINVAR:90052 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 747be35e-6ed1-43a6-84e8-c16857e83c32 CLINVAR:90052 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fc9ab5fd-3709-4452-82c1-59c5c61ff34b CLINVAR:90060 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c7454c7-7792-48f3-bcb5-c8e97c49dbe9 CLINVAR:90060 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 212630ed-9388-47d7-8692-8a3ac868b0f3 CLINVAR:90062 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06b96341-1246-4156-b47f-699a4530ec3e CLINVAR:90062 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bec0e622-b2cb-42d1-88f8-ab3f53dd552c CLINVAR:90065 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82f64c09-eb0e-4204-8056-54a900c019d7 CLINVAR:90065 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d37eec3-1aa3-4fba-a73d-23ca16bfc732 CLINVAR:90066 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df6ad0cf-d16b-491c-a2e1-831d6c0b2175 CLINVAR:90066 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8753be4e-263b-489f-b840-19f9c9a151b8 CLINVAR:90068 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 672fbb0c-e255-4fba-a089-cdb823276f68 CLINVAR:90068 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b28b025f-40ae-44f1-8e70-ce9b04c23825 CLINVAR:90069 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e7674cd-baeb-4064-8e57-ffae95bd3281 CLINVAR:90069 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c86e2a68-5617-4caf-8b24-67946fb975a0 CLINVAR:90070 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21001bea-c682-46a2-a0fb-9342bebba98e CLINVAR:90070 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2343f006-2d57-4f48-9326-2e85029fd7ae CLINVAR:90073 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36224541-3520-448b-b7d8-ae4b251e1c7b CLINVAR:90073 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef7db314-d56b-4a33-bc80-2a96f73cdc00 CLINVAR:90072 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9711559-1383-4b37-9f94-94074fec2a08 CLINVAR:90072 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85ebdfa0-ea93-40bd-b3e3-40afc8e1f08d CLINVAR:90071 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1a8e364-c7c5-4cbb-8109-a912ce22da93 CLINVAR:90071 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d91a824c-bc15-4efa-9e7c-2e866f96269f CLINVAR:90075 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 003ab998-2ce0-4e5d-9cb4-a6f21cdbf969 CLINVAR:90075 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c469b719-2492-43c4-8b75-b7179016852d CLINVAR:90079 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e6580e6-a72c-46fb-ac0c-10808cb2dfbf CLINVAR:90079 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 95f1b745-37a1-4bd7-94d0-1488cfe508a0 CLINVAR:90084 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8941c31-2f78-4ede-85c8-b5d9a1d8de1a CLINVAR:90084 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 746e029e-3e3b-4ed1-b9a7-44a0dd5d021b CLINVAR:90083 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf8195a1-7167-474c-b055-6e70fa1a6577 CLINVAR:90083 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 49f6dad3-5ee2-4981-8bfa-963531df10ba CLINVAR:90088 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38949f6e-81ec-41cd-8c32-17a0132d60ac CLINVAR:90088 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1ff1d6b-7981-4684-bd6d-2baaed470972 CLINVAR:90087 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34b84416-4c56-4f45-ad59-ef472c2be15f CLINVAR:90087 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c2cd774-9a31-46ad-9aff-56af4fd0dcfa CLINVAR:90091 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aae3dab7-bee3-452f-98e6-4b4b235399d8 CLINVAR:90091 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8aeb189d-23b3-48d7-9be2-40c6b96a0f6f CLINVAR:90093 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a90a1442-1c0d-4dcd-8486-988787071e5a CLINVAR:90093 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3efca38-58b3-4724-a801-c894cee6c57f CLINVAR:90096 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc04f755-ca2e-4ac4-b267-491c113dd3ba CLINVAR:90096 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aefa391f-d5ab-452d-8cbe-764f824fe364 CLINVAR:90094 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46c6b0f9-b125-4a33-ae5d-16b75c2bf8fe CLINVAR:90094 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09eee432-a4d0-4fb4-8afa-7e8bbdcf1482 CLINVAR:90097 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e58f48cd-57d8-4bbf-ac26-5e4e481c5250 CLINVAR:90097 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e35e2e5-f7a0-453d-8e7e-f47f11a1c4df CLINVAR:90101 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d079c3b-6e3a-4e27-a92e-d42e7138658a CLINVAR:90101 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1bd50761-13e0-4b6f-a7b2-10d0485237b4 CLINVAR:219292 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c83ad267-510a-4f00-8cd7-0cb54738d56f CLINVAR:219292 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89681b5a-6222-435e-93fe-3f91f688cbe2 CLINVAR:90107 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 109ad40b-4fb7-4d51-a37f-065bf9d3628c CLINVAR:90107 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 639432bd-6256-4795-807f-e7aa4cf131df CLINVAR:90109 biolink:is_sequence_variant_of NCBIGene:4292 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eedd169b-27cf-421b-ae3d-11a3230aed2e CLINVAR:90109 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa40a464-7d6b-495f-ba33-911a1008f0f9 CLINVAR:13534 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 711c2a6c-52b9-4e52-8f2a-18d5975b501b CLINVAR:13534 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ef6c96d3-a84a-483b-8d53-4a7e4a35d00d CLINVAR:13533 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ffa6068-99ad-443c-8c1f-1fc76e421962 CLINVAR:13533 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 998eaec4-e01b-4a4f-8f62-6e283c5e2429 CLINVAR:4539010 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ada422a-e625-4da8-b68b-787d6f82a688 CLINVAR:4539010 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c61da320-4c24-41d2-9a94-ad9187958ce7 CLINVAR:2734558 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c54d918-e005-439f-801c-7544f74b436d CLINVAR:2734558 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a712bfc3-60cf-4393-8d3a-870b9b8e16ee CLINVAR:13532 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d58aee74-6aa2-4241-bb8f-894576edc4b1 CLINVAR:13532 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 24b8a039-1b81-47ae-b95a-e5e6119cda50 CLINVAR:13529 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08662517-286f-4865-9429-d3b811d9ec15 CLINVAR:13529 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9cedd332-a3b0-4b24-9c23-b492ca2aef0e CLINVAR:13531 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c20a9ab9-de48-489c-b6b0-427b43f265e8 CLINVAR:13531 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64e62e67-ecf4-4d36-9d07-b28cf8904d7b CLINVAR:1491487 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 295dda43-c2f1-4b35-9b69-72c76d983da4 CLINVAR:1491487 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ed11b69b-d0cf-4909-bea0-b658fda4ecec CLINVAR:3775050 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar daa485a8-1f4f-4656-8f70-e3351f42e659 CLINVAR:3775050 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2e0af6d-326e-4fd5-876a-ab96dab54bf0 CLINVAR:2503896 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4262d28-7183-41a9-8daa-29e0e10af06d CLINVAR:2503896 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a30d0d8c-7089-4fa7-b3f6-8ad8f2b1ccf6 CLINVAR:4539008 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 428fd522-e54e-4c8d-adab-4d75dd83e7d9 CLINVAR:4539008 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 930218da-2d2d-4e5c-8a92-d6e9248f4ce0 CLINVAR:3775051 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1dfbf3a8-db5f-4b8e-a243-de311c27db3a CLINVAR:3775051 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 20951034-7235-41c2-b553-df981ea15832 CLINVAR:4687494 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 918b1e75-002b-4707-ad9d-2b29ad274017 CLINVAR:4687494 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d1eb8fc1-97c4-4000-88a3-a2d5cd7d9cd2 CLINVAR:4088264 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aaa1973f-a43b-4218-b09b-09de493e4ab7 CLINVAR:4088264 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 60e0291e-d1fb-4373-9632-fd2b64d2881c CLINVAR:3588372 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7bb47ac-4f60-4331-8e04-fedffef088e2 CLINVAR:3588372 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 49f19f20-e5b8-4412-a4b6-3cf7513debd2 CLINVAR:4088263 biolink:is_sequence_variant_of NCBIGene:2815 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 016542d7-3ff4-4e07-b23e-8c2e0d4ec645 CLINVAR:4088263 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2ae1279d-0464-4529-94ec-732c2f8f3676 CLINVAR:560681 biolink:is_sequence_variant_of NCBIGene:22808 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de041e7a-55d0-4c6a-997d-f4152e5331dd CLINVAR:560681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4bda4b93-1093-49d8-8a5c-cbda9f5c28cd CLINVAR:635781 biolink:is_sequence_variant_of NCBIGene:22808 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9efc7771-5ad7-4cca-a226-f65f7fa129f6 CLINVAR:635781 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8d5c926e-095e-46af-8b24-c60d2f554f2f CLINVAR:635782 biolink:is_sequence_variant_of NCBIGene:22808 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 436677c8-9a33-420c-ae71-3836916fc891 CLINVAR:635782 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0ffaabbe-3c84-4525-ac19-6ccb0cb7ce02 CLINVAR:635783 biolink:is_sequence_variant_of NCBIGene:22808 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d8e3983-d1a7-4050-8a9f-ecfbf1f657a1 CLINVAR:635783 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9f81adc0-c153-4328-ac75-2bdb302d6cf6 CLINVAR:995382 biolink:is_sequence_variant_of NCBIGene:5290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8820cbb5-9f27-4f0b-a3f6-85c021e61c82 CLINVAR:995382 biolink:associated_with_increased_likelihood_of MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8091291a-f7bb-4566-be48-5ea470d5f24c CLINVAR:31944 biolink:is_sequence_variant_of NCBIGene:5290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9f00845-26ec-4593-a815-e7fbec438e8e CLINVAR:31944 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel faa87db2-9cdd-4c13-ac98-ded49d11d1bd CLINVAR:376476 biolink:is_sequence_variant_of NCBIGene:5290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b230debb-1843-4c61-aa83-f559de34b647 CLINVAR:376476 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e6389c5-096c-44ff-8688-6b96c191cbbc CLINVAR:39703 biolink:is_sequence_variant_of NCBIGene:5290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcaac6a6-aee6-48fd-a5d4-a2bb156fdf4e CLINVAR:39703 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 956f9bed-022e-4ba1-a33e-2899e468e2af CLINVAR:13652 biolink:is_sequence_variant_of NCBIGene:5290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9de44e8-f942-4584-ab79-5745de5e1d62 CLINVAR:13652 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fc1c2b6-acd0-4efa-a83a-f9b69ed08ca3 CLINVAR:550458 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fcfbc46-7e49-43d2-b074-81040b5511ab CLINVAR:550458 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f5474b0-071a-4161-a2d0-fb163c809ac1 CLINVAR:550458 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8eead57f-7f8b-447b-8b8f-65c4d37ee65d CLINVAR:1323098 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 483db8be-fd56-49ed-bb7f-10e047a41513 CLINVAR:1323098 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d55b1560-906c-4554-a757-3adeaff219f5 CLINVAR:1323098 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da7aaaa7-e0ce-4100-bc16-1ddaba014a47 CLINVAR:639529 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1d14b13-2955-480f-ac0f-a6487d5a4812 CLINVAR:639529 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6733a9ee-ca93-4e02-8f28-d57be07f3f08 CLINVAR:639529 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8522cf57-1b3d-4e76-a6e6-37c651171499 CLINVAR:557150 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ebb5bed-f20c-40ec-9764-cd565da53f0a CLINVAR:557150 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd2a020b-3d8a-4404-9029-7875bfbbd086 CLINVAR:557150 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfe40146-9ec2-411c-88be-37e1d0312033 CLINVAR:92643 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ff8e96c-5da4-47bc-916d-1cd4d52f8276 CLINVAR:92643 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c850f7a1-4f57-4db7-a1bc-191cd089175c CLINVAR:92643 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a26fb0b-8141-4768-89c5-bc1b5e5e52b8 CLINVAR:193062 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36c85d8f-653b-4a13-b15d-033522eb831f CLINVAR:193062 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c27bb659-4604-4adb-a594-a370f4967775 CLINVAR:193062 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f6d628ee-f547-4a1f-a57d-44c81bac7765 CLINVAR:929238 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16d0e16c-54c4-4f5a-af7a-d57b60aeee36 CLINVAR:929238 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e62a7102-6618-4459-8925-d27d6f9c2bc9 CLINVAR:929238 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d261876-341f-4f34-9c03-41ebb344b645 CLINVAR:2734632 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b59a9533-f21b-499f-8dae-0a24181f59e6 CLINVAR:2734632 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26cac7d5-0a7b-41b5-9e92-951fb99b9ae6 CLINVAR:2734632 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3df6fdce-ba41-4d40-9ee0-55f9aeb9d96f CLINVAR:1518010 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8930b3c5-74d9-4d1e-b2dc-2a7eda9e08f1 CLINVAR:1518010 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12cfb3ca-e660-44dd-8c22-0febe563f041 CLINVAR:1518010 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d560a140-13a8-42a6-99e5-40c520698d91 CLINVAR:193061 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4968257a-bf6c-4b53-87b8-66922ab619d3 CLINVAR:193061 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20f937a1-816d-4dd4-a147-e6a70ab1b69f CLINVAR:193061 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9cf0a565-5db7-457c-bb37-70252d13e5ee CLINVAR:3906898 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd7a121b-43b4-46d0-840d-34ca812573c9 CLINVAR:3906898 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf5bead0-eaf1-4e03-b950-2dd2d1f0cdaf CLINVAR:3906898 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 305b07d7-4398-4fa7-a83e-cc1996b7095f CLINVAR:855487 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10a15139-861c-4211-b186-f17641f5bc19 CLINVAR:855487 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59f6eebb-3eaa-4816-9976-5b6bcd73a1a7 CLINVAR:855487 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31264bbe-83c8-46e7-bcb1-a9d170d5d181 CLINVAR:1458768 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c4bcb71-675c-45f9-9825-4df8b366c96d CLINVAR:1458768 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c50d8ec3-704d-4378-8762-83c06e6998af CLINVAR:1458768 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8073207e-2240-4037-9325-77a12a335b87 CLINVAR:655054 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2634640b-8ef9-41ec-b992-eb2caffc8ef4 CLINVAR:655054 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79d1199b-754b-4c64-be2f-4b209bae097d CLINVAR:655054 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db5585db-53cc-4062-8c83-9943a0d6053b CLINVAR:1076378 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd92f4bc-be8e-47ea-85c2-54444cb1219a CLINVAR:1076378 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 009bba9c-e736-4898-8c9e-08e1c0fd4018 CLINVAR:1076378 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e62fe11a-cdb4-4e4c-8be2-9a8129707d8e CLINVAR:11909 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e49f1324-9e68-4d1b-a1a2-a204efde85cb CLINVAR:11909 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19b81126-d07a-4508-ac8c-08fef093008c CLINVAR:11909 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a302ab75-c4ac-4cfa-8e02-11953c442bdf CLINVAR:222993 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce7b3491-cfc2-432c-9fc1-cf406b9d81e5 CLINVAR:222993 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b53683e-e709-4f7e-a9c5-d6928f2e677a CLINVAR:222993 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5bbfcf7-af99-4b73-9b97-d338d818d094 CLINVAR:1458769 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e931033e-1c77-4191-bffc-5af075e77d69 CLINVAR:1458769 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54f514f5-a6bd-4600-afde-91e8fbc30897 CLINVAR:1458769 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f70e0080-a7ba-401e-acf2-c988ea8b6389 CLINVAR:3906899 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f8667c8-1752-42cc-b942-c6ea8f85aebb CLINVAR:3906899 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b805700d-9c01-4481-8ef2-f8f4af431f9c CLINVAR:3906899 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f435d5f5-b412-40a1-9d6e-abca6bd47005 CLINVAR:11922 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02eff9af-2d55-415e-926c-5c5374cbb97f CLINVAR:11922 biolink:is_sequence_variant_of NCBIGene:10861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 149b8ab3-4512-4c51-95d1-4701c46e84e3 CLINVAR:11922 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18dd58c4-865c-487c-9fbb-992cee119ea6 CLINVAR:551563 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3892da1-cae2-4454-8d16-841c08b5b039 CLINVAR:551563 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1581ea33-1150-4157-868a-3369418f943e CLINVAR:1451219 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2449358-f5f6-472d-bdf1-26a794221f9f CLINVAR:1451219 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c054430a-2321-4950-a436-227945c5deaa CLINVAR:3775042 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfafac71-5ce2-4c10-92ba-1238f5d0252a CLINVAR:3775042 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a58ea304-2be5-4656-acf3-7051ed7d08fb CLINVAR:551966 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cf7b52e-21c4-40cf-a12c-d541aca1f7c3 CLINVAR:551966 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53abda2f-3d22-467e-b6f2-d7acf9a184a2 CLINVAR:222994 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 120c6d99-824b-42b9-9692-366459de81d2 CLINVAR:222994 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 80a4c741-688a-4e9d-abb6-e5c491691490 CLINVAR:1458772 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6eb69e6-0019-4f57-8981-37b478042049 CLINVAR:1458772 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4cb5586f-7cef-4e50-944b-3cb7f55e237a CLINVAR:984179 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 208719ef-7899-4f58-b89d-f272a7ffc7b3 CLINVAR:984179 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel de312460-a8fe-4242-85ed-72685014b0b8 CLINVAR:917689 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2767c39d-b958-487a-8577-b46a4cea5686 CLINVAR:917689 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bffb2e20-488a-4cbf-8330-e5d5137df2dd CLINVAR:557942 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69e2ef9c-eb3b-4027-a9cf-07bd85723208 CLINVAR:557942 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 88cf83b6-630b-4f53-abac-fcf1a8cf0c3f CLINVAR:3906901 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c53366d0-4eea-4c29-a844-a3d823556a68 CLINVAR:3906901 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca95bcfc-c53c-4512-935d-05896c87fb39 CLINVAR:92644 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar baaeb9bc-400e-44dd-ad85-76f57188860e CLINVAR:92644 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8bfedfcd-742a-46fe-b0f7-9061097c35f7 CLINVAR:4539823 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfafdeed-d4fe-4eb1-be59-ebe8015a7e07 CLINVAR:4539823 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7e583741-4072-4013-9c97-1543b4ee5756 CLINVAR:556358 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 576e2d17-e881-4ac6-a57f-61ed4f8a0557 CLINVAR:556358 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2d52253-3fe9-4a33-9127-f6a96a0c70a6 CLINVAR:1455223 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4de51bc7-7daa-4bca-b901-27469fe30727 CLINVAR:1455223 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 89c1ab32-2c26-43ab-a48f-43edff30288f CLINVAR:3775043 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a7baa00-f537-42a2-8060-136fe060e3a2 CLINVAR:3775043 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cceedb65-b951-4954-9325-f3dae4aa49b9 CLINVAR:1021968 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34dbdba1-d0af-4b76-a4a4-9be4da916658 CLINVAR:1021968 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0ce53116-da8c-4ab0-9b24-5a42908391e5 CLINVAR:1321357 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5bb0ebd4-b24a-4855-9b00-fbde7208c63e CLINVAR:1321357 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b4b4c2a-2ed1-4f3d-bf76-0d7966a84e13 CLINVAR:2198440 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59f2f3db-a9c5-44c6-9f6e-e15a39cc9774 CLINVAR:2198440 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c383dcee-1f34-4ccc-9c7a-6739131d0f7a CLINVAR:3639714 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 520299d7-b20d-4aa7-8d64-170b2ea9acb4 CLINVAR:3639714 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad8a09cc-16ef-4e33-8411-aef36c08723a CLINVAR:222996 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d19bac90-ec25-4fb5-a8a5-9c1d8c0908e2 CLINVAR:222996 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39692b02-77a1-44e7-8cb2-885b530d18b8 CLINVAR:554670 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9952c44-431e-4f22-bba6-01c1dcc70f37 CLINVAR:554670 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 62b2386b-d4f4-46e1-8c99-a4ed369b1205 CLINVAR:1323100 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c62ab71-707a-4acc-a0fc-ea90a4fffe04 CLINVAR:1323100 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91dab8a2-9508-4ed6-ac4c-91a35ed36b3e CLINVAR:552333 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69840391-2b22-4a7f-ae66-e63a23ab447b CLINVAR:552333 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 927657bb-41be-4d33-9a69-be9101c0c043 CLINVAR:11921 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ec44dbe-f183-4d9a-8ea3-3621a4532eec CLINVAR:11921 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9101998-eea5-41e0-b480-fe9fd0146f00 CLINVAR:1468875 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed370753-4fed-496a-a9d0-64be00e14ea3 CLINVAR:1468875 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1e3451b1-7013-433c-b06a-77259a00b147 CLINVAR:554590 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 720f7081-1e12-4f77-9fea-3c363850b754 CLINVAR:554590 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b63c7511-08b0-46d9-a4e4-56ca98c21126 CLINVAR:222995 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13b5eb7c-3881-4643-a660-f3448e466cb7 CLINVAR:222995 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d0b0205-ffc7-4493-9b0e-58ff7165443a CLINVAR:265418 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7eee97c3-094a-4fd8-b27d-d372afc81e27 CLINVAR:265418 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe47556a-2df9-4636-93b3-68b011e95cf3 CLINVAR:4539816 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3739408e-e010-4e3d-bfa4-8cf12e8bc40f CLINVAR:4539816 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f034695-303f-4a31-92ce-d32e2323b0f4 CLINVAR:4539815 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6db9c56f-5b2a-4ec1-82ce-690ed61a6e75 CLINVAR:4539815 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8cf6b65c-2ba2-482a-9607-a5209ac53bf2 CLINVAR:638074 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 156d8733-0cfc-45bb-9027-0f6a0aa4424c CLINVAR:638074 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 32d7f411-974b-4022-8d64-d2971c7140da CLINVAR:3906900 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74722496-e0ca-4893-8308-3d65fd6e573c CLINVAR:3906900 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 49d3fd84-1376-4efc-b79f-6e4b4089d288 CLINVAR:553227 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9e9e837-62f6-46bf-a995-197733ad88fe CLINVAR:553227 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cba55fe3-9708-42b4-abea-c41cadecfc9b CLINVAR:3233261 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a849151-eeb0-4e60-a94b-5cc023e70a58 CLINVAR:3233261 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 52d1ed81-7baa-473d-885b-e81008154791 CLINVAR:456720 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7efecdcb-d0b9-463a-ac27-acb61a18f1d6 CLINVAR:456720 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ee19bda-dcb6-443d-8f1c-16ea9d0964ea CLINVAR:1076379 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e6af728-9f72-4c52-aff0-fd7a29d94b73 CLINVAR:1076379 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c33493e-654c-4f49-bb56-eb326bf213b6 CLINVAR:558316 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c2bd20e-c035-4547-a012-f6d44fd3e94b CLINVAR:558316 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f2569db9-97d8-4cf5-a559-e924efa10f61 CLINVAR:987878 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae479a0d-5fcd-417b-9b8c-90386f924760 CLINVAR:987878 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6e67db9-057c-4c0f-a60b-af3be5a8d191 CLINVAR:1184991 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30fa8a96-efb1-47a9-bdcd-a54d6b9ccc7d CLINVAR:1184991 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10c66bc2-cad0-4858-b642-fcb0ee7c8cd9 CLINVAR:11915 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41e33d72-c8ec-4e5c-b2fc-811a0e31d17f CLINVAR:11915 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eff41e09-3c0a-446c-a794-c79c928b644b CLINVAR:4539822 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74cfc8d8-71a6-4cea-8298-0a6d7e64759a CLINVAR:4539822 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3b931802-dda5-4a5c-aa11-00a4966e7839 CLINVAR:1683230 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f14a68f-f882-4a2b-b191-8da5d7e05193 CLINVAR:1683230 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8bb01656-a426-419f-9ef1-20bb6c320fba CLINVAR:198406 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c73098c-3a8f-42a2-a082-2a2455c6534c CLINVAR:198406 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be83b962-6519-4817-809e-cdd1cf13f763 CLINVAR:4539817 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ac25d2c-622f-4af5-88a4-9c7ad6f5bc57 CLINVAR:4539817 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a69c1e06-baaf-43af-9d08-da0c1d972d79 CLINVAR:3544354 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a7d4b91-eb4f-4d71-bcce-748ac26f0bce CLINVAR:3544354 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e299a35f-6172-4aab-a9e8-2001b3118c9c CLINVAR:222997 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4547c406-c000-4040-909c-50e5546156c7 CLINVAR:222997 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9a5bcd4-5d3a-4a95-a005-11b56c08e1d2 CLINVAR:550474 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 860aa160-2369-4795-af89-d2fd1047b296 CLINVAR:550474 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a77be6d-24b1-4039-8297-e2062002f744 CLINVAR:557885 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04ffa011-88e4-44e2-9996-b33a749017e7 CLINVAR:557885 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 829c13a0-72c3-431a-a0c0-1cf1aec1e0e6 CLINVAR:4817914 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 643aa43c-1604-4fe5-9ea3-3d7bd1f1d898 CLINVAR:4817914 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bcf69649-b38c-4031-8f82-7dcc109a6b66 CLINVAR:2585078 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 348b712d-46d4-4797-ba9f-4ff551d5f19a CLINVAR:2585078 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ab6e13f5-ff46-40e0-b978-b32479915320 CLINVAR:950889 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b403d38-2865-44b3-9dcd-553ac7f91340 CLINVAR:950889 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e3e53f04-0259-4c46-a9ee-0ffdcf35a15e CLINVAR:557260 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3012776-cecd-46df-a044-11bfae60cbc2 CLINVAR:557260 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1d71e501-ee33-430b-a9f8-ddc9213e1109 CLINVAR:3775045 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d8d5336-72f3-464f-8f29-99d1e4cb3f88 CLINVAR:3775045 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2cdc7202-01c0-4935-9397-39136b4be8f7 CLINVAR:557205 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a37c2991-bbd7-4303-8891-6cd656f57622 CLINVAR:557205 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bc61105c-b05d-428a-a757-7593b21e8aaf CLINVAR:11925 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6359cffd-8635-4974-b423-97e2b1ef1a78 CLINVAR:11925 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11308657-f787-421f-8adb-7c33502c1478 CLINVAR:550799 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f411b52e-d27b-4bdd-80fc-b6388c5ef206 CLINVAR:550799 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1afea896-abe3-427d-a9f9-f2c0e8ad7376 CLINVAR:558189 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d3d11bd-d1bf-4d28-94f9-bade6af4a4ea CLINVAR:558189 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1771873-2dbf-48e3-88b2-cc18033d544d CLINVAR:828094 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd6efea8-b2a4-43d7-ac5a-4c9f173a3d3a CLINVAR:828094 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d4d5dbd-7f88-4c93-8b3f-1cc577407115 CLINVAR:198696 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26e81e66-e813-4260-b9a8-1123c8dec2e8 CLINVAR:198696 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f3cc436b-4936-4039-bdb4-42c77a6ae2c8 CLINVAR:496834 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3957c409-a873-4708-8c05-0f38e589632c CLINVAR:496834 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cfff537f-0d63-4272-88e2-45f10ad362b3 CLINVAR:950888 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49b179a3-52f0-4b0e-b972-514ee878913c CLINVAR:950888 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 321619a6-c9b7-40b2-ab0d-369a46dad61e CLINVAR:1204494 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 771ccc76-1c4c-4466-98ed-78530b111843 CLINVAR:1204494 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22c4ca60-4ee2-4b5b-ae98-268162b62149 CLINVAR:1683229 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0ac3513-0b7b-433b-80ea-47d9da62b34a CLINVAR:1683229 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf35795a-ae6d-44fd-a3ee-1c5eb110a0a4 CLINVAR:11908 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec74394e-b860-449d-bf2d-b17affd39129 CLINVAR:11908 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca8727e4-f25c-440d-b75e-ded39920321e CLINVAR:4086094 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3ef79c7-f43a-4a9e-9593-50a86ffc6d57 CLINVAR:4086094 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a25d5ec6-3d7f-4538-a913-43b6c9a24480 CLINVAR:556156 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3364040-67b6-4a52-8a09-d512b52216c5 CLINVAR:556156 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 88518a2d-130a-4714-8745-5e3cd2f27fd4 CLINVAR:2704858 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea33a131-b273-4cf2-bfb7-4aa0533f430d CLINVAR:2704858 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 83ee82a6-14d0-4c33-9cfe-2874a1175574 CLINVAR:929236 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dae3708d-6038-40e5-80c6-debb2700f76b CLINVAR:929236 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e889125c-5458-45a8-9119-360b1019a023 CLINVAR:555490 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9e80934-656e-4c97-a276-e2bd3fcbfa9b CLINVAR:555490 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5912bb24-f0fc-4727-903e-4d38e0a6e08c CLINVAR:1323099 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 276713b1-a684-47e5-9ace-7979df4b9061 CLINVAR:1323099 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 45d8bb56-8cd5-4c62-a54f-29d5519e1756 CLINVAR:553131 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e06b8bc-3e46-4bda-8386-035eae988a82 CLINVAR:553131 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bdf17eeb-66e3-44a1-b412-0db4405724c1 CLINVAR:652306 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db52f8f5-effc-4593-9038-a5b558ef26a6 CLINVAR:652306 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ecdfbfa-648d-4f36-bddd-58413adea181 CLINVAR:496861 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5db23fc1-61e7-49e5-bf79-b413c06a7785 CLINVAR:496861 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 790b8bcd-a03b-4623-87a2-2d57ccddc218 CLINVAR:551675 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b124e3f8-f39b-4fed-90e7-d72fdad24396 CLINVAR:551675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9b6bb5c2-1ea4-4601-aaf1-d74a70719f8a CLINVAR:1309246 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53a4b821-a1f8-47c9-8971-66e0a0988800 CLINVAR:1309246 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 76f1b7eb-3e01-4a0b-8a24-3ca429992c2f CLINVAR:2203498 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b9a757e-12e2-4bdb-8b4b-e9e705b54c69 CLINVAR:2203498 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b275bdf-9722-4f3f-b1f0-3e9782398376 CLINVAR:556184 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58c2c72b-b09c-4405-be7e-fa59cd9ded0e CLINVAR:556184 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7e88d23-350f-4943-b204-84c8feb3b4f2 CLINVAR:4539814 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 844ae3aa-6c59-4296-ac8c-826eadd3d55f CLINVAR:4539814 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41624432-751a-44f4-9f6d-636e0eae70c2 CLINVAR:11910 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5acf3022-cec2-458e-a703-a206eb17da39 CLINVAR:11910 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f882f527-b80d-4dd7-a8d1-e076cfb86f7b CLINVAR:4818933 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53e687bf-b7f4-419c-9146-ba4cb57bb92c CLINVAR:4818933 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 83b90c07-469d-4ca2-832f-c455738b58e8 CLINVAR:167191 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82259a57-b0d1-4abb-b970-db29cc5e9e7c CLINVAR:167191 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8da25f68-c8a4-4fa5-b925-ca286a74036e CLINVAR:4818934 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fb0f88e-f38a-4052-8d51-3c5d2cc58407 CLINVAR:4818934 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 729bc426-6bce-496e-8b7b-89fc619314c4 CLINVAR:1323092 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93c31cd7-2693-4330-9992-c42743bd20a0 CLINVAR:1323092 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d51efd9c-b9f0-4e8b-bd16-aece2eacc212 CLINVAR:92634 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9027fa31-e774-4ea0-964c-ae2cba765840 CLINVAR:92634 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3f71c22-1c94-4d86-9fdb-26beead7c1cd CLINVAR:638077 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2054872a-0b48-438f-9e0a-f0571b0a35ee CLINVAR:638077 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba080c70-4156-43f6-9f66-eec754d743fe CLINVAR:4539819 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84a263f2-fe83-480f-a484-c850e9049b0c CLINVAR:4539819 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5da0849-3432-4b73-a9a0-a797e97dafd9 CLINVAR:554593 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c361477a-edd6-4338-8b37-fdf8bf5ea936 CLINVAR:554593 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e95a8e94-2b1a-413f-bd0c-8e1ef22b2877 CLINVAR:556064 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 435cf629-0429-4dc6-83fe-5e9bad3af3c7 CLINVAR:556064 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea498c65-550f-4fa9-8de4-2026b89bf35a CLINVAR:550883 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1bc9443-6add-4a0e-850c-56c7ff51eaf9 CLINVAR:550883 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f727738-8393-4d83-bc70-854172d2acf2 CLINVAR:846228 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c6292e9-79f1-4ab0-8e74-c8dba5abf741 CLINVAR:846228 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dcad510e-8dd2-4780-8688-d9dc0fd12793 CLINVAR:92636 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 360a601b-a6f6-4c15-9712-8f63bd0c413f CLINVAR:92636 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2411f649-185b-4054-bd9e-f449228731c7 CLINVAR:554826 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f81f9e23-d289-4e6f-b934-e9945a10c576 CLINVAR:554826 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c96530ed-b76d-4c48-be24-5931479566a0 CLINVAR:280976 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6302cf6b-0af7-4382-9f43-7e881511c9f2 CLINVAR:280976 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b992d96-99a1-4b2e-91e1-5f4e241f6b7b CLINVAR:11917 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6817c01d-3f35-43a8-9376-df35f1b2f3f9 CLINVAR:11917 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c64791c-7d68-4c0b-bac4-801b08c7ec19 CLINVAR:550421 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31faa715-c06f-4d7f-849e-5dbb8cd3de52 CLINVAR:550421 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85699a75-7fc6-48f9-9e4f-ac88991d3169 CLINVAR:1064675 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 082ab218-b550-47b9-b906-16ae42688694 CLINVAR:1064675 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f995815c-dda6-4bc1-b29f-6ddb75cdb370 CLINVAR:1068474 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d82cb431-59cb-4fcf-9b9d-b2012d03960f CLINVAR:1068474 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 11bff274-f353-4715-9a5f-d09d84a71ae7 CLINVAR:286242 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e94fda4-6037-49c4-9b20-46f8fab22e8d CLINVAR:286242 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 541e3ed6-7129-4cb2-a352-efdad5e9b90b CLINVAR:960079 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e877368f-1e25-432c-9f23-5cdad30b2fc0 CLINVAR:960079 biolink:causes MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a70ccc4d-d694-4e6a-8a84-b679ed6325d3 CLINVAR:11920 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a914e0d-b243-49da-ab1b-edef1497b464 CLINVAR:11920 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b2b34bd0-e5be-4a5b-8e14-3f3de1459367 CLINVAR:242721 biolink:is_sequence_variant_of NCBIGene:3425 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9d8c181-2f4e-4c1b-a676-1b2c0bafba3d CLINVAR:242721 biolink:associated_with_increased_likelihood_of MONDO:0001586 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 87647f89-b975-41b7-920b-9291031eaa54 CLINVAR:370474 biolink:is_sequence_variant_of NCBIGene:6443 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba3e8313-d9e7-4014-a3dc-136d6d153fa6 CLINVAR:370474 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5d03de4-06da-4ed0-be69-5143aeb0d78f CLINVAR:8712 biolink:is_sequence_variant_of NCBIGene:6443 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfe1dc22-7cb8-4fef-bdfb-5db6e5dffd01 CLINVAR:8712 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae8a52ab-d8bf-4415-9563-38f78f5010e0 CLINVAR:523842 biolink:is_sequence_variant_of NCBIGene:6443 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd2def14-589c-48f8-9364-e740754b0e6c CLINVAR:523842 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82f29b1a-b095-46a6-b2c9-9e24594c659b CLINVAR:8714 biolink:is_sequence_variant_of NCBIGene:6443 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5116ef52-b689-4caf-87b1-ea46daac0155 CLINVAR:8714 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fb26121-44b1-4f84-82fb-72cfb1f13eaf CLINVAR:499193 biolink:is_sequence_variant_of NCBIGene:6443 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a47e11b-ab30-4101-b3cc-d8700bdd000e CLINVAR:499193 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 607b58c9-d2c1-464a-8ded-34526a1263d2 CLINVAR:551805 biolink:is_sequence_variant_of NCBIGene:6443 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88fe2752-5965-4358-ae98-57c145870d97 CLINVAR:551805 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7ee809a7-07f2-4878-8826-253b346ddda7 CLINVAR:370775 biolink:is_sequence_variant_of NCBIGene:6443 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bef6c83c-7c69-4cc1-be1f-fbd9fa1c7c7c CLINVAR:370775 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9e01020-b045-425c-ae21-f9557709bbd1 CLINVAR:353259 biolink:is_sequence_variant_of NCBIGene:3575 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c54211ee-6878-4359-8db8-6a70c879bb0d CLINVAR:353259 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a27ccfe-f444-4449-923f-dd66ec6b1220 CLINVAR:1323115 biolink:is_sequence_variant_of NCBIGene:3575 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a7284cc-4fab-4ba1-9417-b290c394112a CLINVAR:1323115 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4824c6e8-f6d9-4425-a199-482ddbe53f08 CLINVAR:804345 biolink:is_sequence_variant_of NCBIGene:3575 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6acffdf5-6ef0-470b-85b7-811b1918f8d6 CLINVAR:804345 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 544d184b-3bb5-433b-ab15-8b7e63486505 CLINVAR:36392 biolink:is_sequence_variant_of NCBIGene:3575 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2839c36-2be8-451e-a92d-261c58900c1e CLINVAR:36392 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23d43803-b2de-4032-b6d0-292d2e90ba57 CLINVAR:224841 biolink:is_sequence_variant_of NCBIGene:3575 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77b8292d-95f3-4fbe-b612-9959be71590b CLINVAR:224841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9132b33-0f16-4234-a6a8-cbf06342618b CLINVAR:642787 biolink:is_sequence_variant_of NCBIGene:3575 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edc6fabd-3951-4bc9-a6c5-989f3f471534 CLINVAR:642787 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a496a123-a1be-4d1d-b429-406546ef5e2d CLINVAR:1339483 biolink:is_sequence_variant_of NCBIGene:3575 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff670213-eb40-4097-8c5b-3670197a5eb2 CLINVAR:1339483 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbe7bc79-741d-4d8c-83f3-013c4321b1c5 CLINVAR:14843 biolink:is_sequence_variant_of NCBIGene:3575 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0cf25916-04b4-4d0b-bd51-21313dcd98b5 CLINVAR:14843 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e9741cd4-41f4-4a1a-ad6a-28e428a7a9c5 CLINVAR:14841 biolink:is_sequence_variant_of NCBIGene:3575 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 659db347-63e7-4dbe-a298-dcdb0e5592bb CLINVAR:14841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b1df9fc-8438-4b1f-874d-2250f62f2ec1 CLINVAR:1298987 biolink:is_sequence_variant_of NCBIGene:3575 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af624604-941d-4c6e-8329-068bce4b611d CLINVAR:1298987 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b6af23a4-6318-4e11-ab88-b96fab2e038a CLINVAR:134528 biolink:is_sequence_variant_of NCBIGene:3575 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fbd78c4-68f6-4981-b28b-c27e33cdad04 CLINVAR:134528 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 649c07f2-0254-4726-a7a1-8a48da774fb3 CLINVAR:578174 biolink:is_sequence_variant_of NCBIGene:3575 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6fde83f-aff2-41eb-aa1b-46c1908218a7 CLINVAR:578174 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bc81f799-014c-4c84-aa74-06fbeebcb99a CLINVAR:654864 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5678632e-e335-49e1-8a34-b4deb266527c CLINVAR:654864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e60cd413-88d6-4b54-8a86-d9c6d0fb3010 CLINVAR:934724 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d77014f9-ecfa-4e0f-905a-2c5991a0c056 CLINVAR:934724 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 406c444e-873f-41f6-bc2c-86f35a415a36 CLINVAR:433598 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e3e7500-f835-4b6c-a436-e614c78e3309 CLINVAR:433598 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27a02f69-ba09-44e6-8570-ee639a2b383a CLINVAR:141515 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8644628-dc9d-412d-aaac-f681099965b4 CLINVAR:141515 biolink:causes MONDO:0021055 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f9a808c-acc5-4330-bdc8-c7e0a83ba139 CLINVAR:824698 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0408b6c7-968e-4a5b-a7f2-ef2370964fe8 CLINVAR:824698 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8f51e035-6e7e-45b1-9d25-fda0f6d4e282 CLINVAR:469955 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 363b29f6-f2e6-4196-ad44-bd88d646f8de CLINVAR:469955 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 48bd7e09-7c1b-4d10-a7b7-f06d9683ca9c CLINVAR:1050028 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a827bc51-06d4-4565-85cb-4cc84a72443b CLINVAR:1050028 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 498a2775-6831-4ac4-b808-1ba91582f83c CLINVAR:411479 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 697f2f92-23f3-4598-bc6b-0b395c208ca4 CLINVAR:411479 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4bfbed99-9638-4a30-a9c7-c23e00d65737 CLINVAR:804 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b9e5df1-2e94-4cd0-8842-4d07589ebd8f CLINVAR:804 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a940ac42-ef73-42e6-b8e5-cc56cfa93640 CLINVAR:537529 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5068442-a668-4951-92cb-b097d2742979 CLINVAR:537529 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cea367f2-86b6-4fe6-a3c3-d7c17cf65fd9 CLINVAR:127305 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e2308c1-2cf8-481d-b678-79b6265d92eb CLINVAR:127305 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b838f4eb-3f08-4ce5-80aa-5fd5eb193f3c CLINVAR:279681 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0d30739-856b-429e-ad1b-587379f6cc2b CLINVAR:279681 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2bc406b1-f796-43bb-a6b2-592dd4871c16 CLINVAR:576816 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c9f5e4c-ad01-45f2-8c7b-6bc8c41d5bac CLINVAR:576816 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4ac914ef-d5b4-4c30-947f-466f5de901aa CLINVAR:411469 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 842e38ad-6546-4051-af19-5c42d6dc0bc2 CLINVAR:411469 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 882569e5-5935-4a08-bfd5-93dac1dc180d CLINVAR:218000 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f07426da-2e18-492e-9d7e-5948d78ea791 CLINVAR:218000 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4a701bb7-558e-44b9-afff-2f26e3670a16 CLINVAR:42248 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee417ff1-c9df-42ec-ad58-bc94e59bfb7f CLINVAR:42248 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6de5e767-2a0c-4ecb-a8d5-b36797b96c4b CLINVAR:418007 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d914641-4fdf-4bb6-b79c-0f844a4681ee CLINVAR:418007 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ede5b4a8-9ea9-483b-99dc-2fb1230d27bf CLINVAR:433614 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d64d499-2cc4-40a5-85a7-4433f958485b CLINVAR:433614 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 834c4376-fe76-4b3a-9a0f-4d9ef41b094b CLINVAR:184999 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eedcd219-9826-4dde-b37f-15ede0f29d6f CLINVAR:184999 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0bfb418f-4bff-4d99-b7c2-fc75fc9763c8 CLINVAR:1025291 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9996704-25a6-4fc7-abf3-3a59b2b1f654 CLINVAR:1025291 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 18b98ddf-1dd5-48df-b79e-6cc45dc8d075 CLINVAR:438864 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c644da6-7fa7-475b-8027-68e1b99d420c CLINVAR:438864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 45cff47a-aea3-4b8e-acd0-ff9c95e21d07 CLINVAR:826 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1f389ec-b22d-402e-abcc-bd197f196eee CLINVAR:826 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 854ab1af-6162-40cf-b11d-3aa6bce081a3 CLINVAR:3901084 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ef5396a-15fe-480e-ae5c-4c633f536010 CLINVAR:3901084 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1dc7e133-a456-48e8-a2fb-0fa0b54ced86 CLINVAR:486792 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ea65715-3e49-4b4a-b1bf-2f65f469c46e CLINVAR:486792 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel de1028c0-0d4b-47af-b165-8604ca9fb312 CLINVAR:217924 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c7942b7-171f-44d6-9dd9-d413199e1823 CLINVAR:217924 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a30df91-9848-40fb-89b3-0c5c545f418f CLINVAR:411416 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47e4bd0a-c6b2-4585-916d-02ae7076dcad CLINVAR:411416 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 10edc855-250c-4115-b88f-56138573a150 CLINVAR:265372 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79ad3f78-5146-4bcf-8f4b-8d383e944d89 CLINVAR:265372 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1dbe1547-f857-4042-aa16-3291b4d10062 CLINVAR:438865 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7bbb24f2-f26d-48ec-a434-55e1c6785e9b CLINVAR:438865 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd3bd3ed-cc7f-4396-ae12-b537986aca37 CLINVAR:411406 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da04b2ac-a197-4636-b0e1-1eeaa30d0f1e CLINVAR:411406 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ff2d91b3-d286-4fa5-a8f1-5fa23cf6b960 CLINVAR:485146 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ec25d34-b3a4-4859-95ef-787e3601a3de CLINVAR:485146 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f34e8f58-f98b-4d16-a050-5a9992ac2b4a CLINVAR:649594 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d3061a2-3c6d-4eed-96ba-e98f9566e64a CLINVAR:649594 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5c215dbb-9ffc-4ca0-bfa5-a3312f024807 CLINVAR:230944 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 319cc2de-506b-4d15-a5a2-5d03430b7182 CLINVAR:230944 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 07fdcb6f-1d86-46cf-9e7b-ea3b8f22e44d CLINVAR:411555 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a8807e2-3c76-4484-b2de-d1bb72d122ea CLINVAR:411555 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4d9a8b35-adae-491f-a243-83ddf19d79ed CLINVAR:428153 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 951daef2-0e2e-4392-a46c-362caf7620fb CLINVAR:428153 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 582b9a10-7699-4cce-a764-ca9dd0cb6686 CLINVAR:2442314 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f550bf40-491d-49a4-bd56-0a20d42e2d6d CLINVAR:2442314 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5e4d246-5654-487c-aaf9-86b6751a0c86 CLINVAR:419202 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87c04f06-aab4-4680-8877-2e10ef5e66f1 CLINVAR:419202 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 51ca15ba-367d-4c43-a9e0-f85865ba8461 CLINVAR:411368 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e1cf658-20f3-40ff-9a5c-fa06c854e969 CLINVAR:411368 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c816f69-7318-42be-87be-f4b0770228a5 CLINVAR:3901082 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd96b406-e9e0-44c9-8d02-5ecf78e30c62 CLINVAR:3901082 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d76fa0ae-c8dd-46d4-95e3-d75d64830501 CLINVAR:1393312 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 716e22f7-5264-4e74-9967-e6f064b5ed24 CLINVAR:1393312 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f29d7021-c893-4d46-9fde-9af505424180 CLINVAR:428186 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 245963e6-2e15-45a5-a39a-2082e8fc25fd CLINVAR:428186 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 668060ea-b003-477a-b044-0a18fc937162 CLINVAR:469904 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c624556f-e7f9-4721-8ffb-a7b74178ce28 CLINVAR:469904 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 94065bb8-57fc-4a07-a404-32f1ff8989b3 CLINVAR:233215 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5424f073-d8f7-439d-b226-1d6532540b61 CLINVAR:233215 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d6ef543a-47d4-4138-9938-8140de3af730 CLINVAR:816 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b11ca71f-04f5-400f-9e01-24592f6ea952 CLINVAR:816 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b26fd58-18f0-4e5c-bf00-2fa50d9afab1 CLINVAR:811 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a19f2ea-0d56-4554-9d73-778f73cf7503 CLINVAR:811 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d2d5b25-0619-4716-8c0f-207d9719cb03 CLINVAR:183857 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50094130-1ee9-4179-99d2-b55ad1043aab CLINVAR:183857 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b9b4dc6-4b28-4ad8-87a6-d2f6658010c2 CLINVAR:486786 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b81a700-3ff4-411b-b47f-c361d9ad061d CLINVAR:486786 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5271156-f6f9-4219-acf6-7ebb8027eaa0 CLINVAR:230520 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18e1ed04-f554-4e55-8fcb-98d6edc6798e CLINVAR:230520 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 866be899-14b0-4974-abf2-e81fef829b61 CLINVAR:438884 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65b224a6-7635-4361-be9a-152360b13268 CLINVAR:438884 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7a1ea15-2f9a-4221-82fa-8f877042648f CLINVAR:428166 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 661a61a4-1970-421b-b7a3-85c0c0e17050 CLINVAR:428166 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1c4c3085-4363-471f-8895-0f180a81dbdb CLINVAR:653103 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb5c32b5-18b8-4740-851c-48eb1601214c CLINVAR:653103 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a84fbe5-e00b-4030-9911-86e0d2395d31 CLINVAR:827255 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 789912d6-b451-400c-a768-c84cb29c8c1d CLINVAR:827255 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b63ef60f-98b0-40ed-a449-cfc15e5d5c83 CLINVAR:648862 biolink:is_sequence_variant_of NCBIGene:324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37641ccf-1dca-4977-8890-3219c9d0e460 CLINVAR:648862 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a31882e3-bcd1-4e60-9f82-75d44a606168 CLINVAR:1677453 biolink:is_sequence_variant_of NCBIGene:6444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61768973-51f0-49f4-87b7-a9202cbcd5cd CLINVAR:1677453 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59d9aa60-a760-4b3b-a208-3020cfe4d022 CLINVAR:8172 biolink:is_sequence_variant_of NCBIGene:6444 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce080e97-4d63-4947-a2bc-54e7c1729b82 CLINVAR:8172 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c5c7edc-5c41-40f5-8189-500cb940ee9b CLINVAR:178957 biolink:is_sequence_variant_of NCBIGene:4646 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2badc764-017b-4b1f-9fd0-6f8c024e1f12 CLINVAR:178957 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 750a66e4-c25e-4a99-8c5c-2ffcfc8fbaa2 CLINVAR:523937 biolink:is_sequence_variant_of NCBIGene:4646 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2ef5df7-0868-4cf0-b3bb-5e154d14d8fe CLINVAR:523937 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2b14e7da-d87d-4373-8f25-7c272a8a06b3 CLINVAR:91335 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fd82f52-5f74-496a-8097-cda185565682 CLINVAR:91335 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b847ad2-49c7-4d04-b761-0424daad3e6f CLINVAR:91336 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 814f334d-edb6-42bc-b21c-4c67fe2b0784 CLINVAR:91336 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf622aad-1bcf-4fc7-9537-bf1f56bc6cc9 CLINVAR:91343 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6ba2599-b0a7-408d-b27e-91e94f5f7321 CLINVAR:91343 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fc8c08be-aefe-48cd-8d80-9d285e8fd23f CLINVAR:9237 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9d71c48-d4ea-4b99-8764-b9bcacbf5e9f CLINVAR:9237 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9656f27-ce0d-4007-b0b0-0c2c3b508e40 CLINVAR:91338 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0630ff7d-42b2-4af9-87ae-81cbbac512e2 CLINVAR:91338 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 61e093e9-e698-4dcd-a91d-d34578da242f CLINVAR:91333 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85651a2b-8323-4f30-ae5b-6484d36f055e CLINVAR:91333 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78a21dff-9ac1-4868-91c1-ac72e835f16d CLINVAR:91331 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ae32404-b093-4b4b-8f79-c4b6b04234f3 CLINVAR:91331 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f25fe081-b8f1-49e1-806d-f730275ccc5f CLINVAR:91329 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d4fe637-5798-48eb-b802-6ee1171dd80b CLINVAR:91329 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23d71fcd-3cc5-44c0-97ac-0e47bc75e335 CLINVAR:91326 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4005682-0edc-403d-a4a4-84147da1300d CLINVAR:91326 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 96c8a024-205c-4e4f-80a2-0f3ace84c494 CLINVAR:91321 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16b6e60c-6903-4aa1-997c-72ea455e760a CLINVAR:91321 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52b94e47-663d-4dfa-bef8-40a307a4aa9f CLINVAR:91320 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24c37f14-aba1-4f3a-9ef3-c9f95792100b CLINVAR:91320 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel acd32490-9cd3-4fcd-b709-027f566b9f63 CLINVAR:9242 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cbd836a-5686-4e35-8f19-d428cbce0c35 CLINVAR:9242 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f50d3e28-d72b-41ff-81bf-01f634be3b39 CLINVAR:91318 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af76dc5e-b961-43a2-9399-70f1e0e473f4 CLINVAR:91318 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ee9fd67-a4a8-4eaf-b7cd-1635adf2e25b CLINVAR:91317 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9e1f34e-5f06-4c1b-822e-a87ddfd30366 CLINVAR:91317 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c929b14c-a933-42d7-b109-c7eecc3f8ddb CLINVAR:91314 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 125e0dc2-f451-4a1b-b048-d5fcd55a790d CLINVAR:91314 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c8a65fd-af5e-40b9-a7d8-acf2f644f95a CLINVAR:91312 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8cbe4913-3541-4b12-a737-ec6b2587861e CLINVAR:91312 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46419469-af87-4f08-acb1-c1beb7a3753f CLINVAR:91310 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4629a201-fe02-4760-bc0a-c50216297e9a CLINVAR:91310 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 30ea11e7-1177-4b9a-92dd-fdf4edcdff6e CLINVAR:91300 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e586aed-a275-4dd4-a246-99b8ee2d2e10 CLINVAR:91300 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 975a1de2-01a6-409f-98a3-6a6a6c15417e CLINVAR:91299 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d295eb7-c10f-4f71-948e-9804ab52b12f CLINVAR:91299 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f167626-e2be-458b-8b86-ae56f65fd86f CLINVAR:9235 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 500d31c9-1415-4896-a5d0-0d5f708c5857 CLINVAR:9235 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d6fda1b-47a7-4ad3-87e3-9edaebdb5e1a CLINVAR:91385 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 041f6b32-8847-4237-9302-fea5c0106939 CLINVAR:91385 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9a0932a-659f-4bfe-84b3-2a1fc7919162 CLINVAR:91291 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a8007d8-50f6-4688-b8f3-ef4b52ad1ecf CLINVAR:91291 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9112a7ea-4aa2-4fbe-b595-3213aa1cafb3 CLINVAR:91290 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dca37bf6-b9a4-48a6-aa73-c1cc66bc39c0 CLINVAR:91290 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e21d403-5cf0-439b-8878-b9b254223315 CLINVAR:91289 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60f79832-9e1f-48ae-8218-cc753c6ad3b9 CLINVAR:91289 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bc69ba5-d97a-443d-9e29-76e037b75152 CLINVAR:9240 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 639f99ea-059e-4d9a-8681-ca37b9d00da9 CLINVAR:9240 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa9e060f-6562-4605-9770-535cc007d74e CLINVAR:91386 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de2f0d0e-4d0f-4fcc-949e-7ffe5e4dfe0c CLINVAR:91386 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f120f558-a73d-417a-bcfb-23eed2c19388 CLINVAR:91383 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3333b42-6c11-4d2b-a863-21fbca3cbc51 CLINVAR:91383 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9926f8fb-7da9-4030-a982-1585a8728af3 CLINVAR:91382 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0d1481b-4986-469e-8c5b-d68ec91bc0b4 CLINVAR:91382 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf333c15-1753-469d-a797-537775234553 CLINVAR:91377 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e524d35-f2ef-4d6f-a5fe-bf7794ab2099 CLINVAR:91377 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 239d007e-d65f-4d79-9c8b-3d3658e887f6 CLINVAR:91375 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffc468b5-1369-43cb-92df-da4b6924edd9 CLINVAR:91375 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2a0fe1c-79a3-485a-b315-f9f1413d1cb9 CLINVAR:91376 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a648d054-44da-4219-b3c7-805ae90be8c3 CLINVAR:91376 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90cfa30c-2493-4a39-8590-f92b7f661bbd CLINVAR:91309 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 593d7ea9-138d-4798-a9a2-b5ee49536bfc CLINVAR:91309 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39afbab7-e0f3-497d-ba4c-3cda9f92ba30 CLINVAR:91369 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 693fc931-6cad-4fba-9307-2b368bd4be63 CLINVAR:91369 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9a72ea6-d816-4c44-a585-78928311a4c4 CLINVAR:91367 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67820d6d-5a71-4662-8060-96f4ce12cb2f CLINVAR:91367 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7fcaf843-65dd-466f-9266-982ebf7c1146 CLINVAR:91366 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b86e49cd-8a34-49f9-b7bf-db7967d449d8 CLINVAR:91366 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca68180e-630b-48b9-acce-fad9f5d1fc99 CLINVAR:91357 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdb20d97-f0f5-4fd7-bebb-c96d2e815309 CLINVAR:91357 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53159303-ddc8-4795-8d28-5ac150869eb7 CLINVAR:91364 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a6c05c7-5cdd-4045-8cb5-8e270f91f56f CLINVAR:91364 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 10d8b6b4-f1bf-4c72-970e-803c41cf0007 CLINVAR:91363 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c328d343-a0b2-48be-88db-f355f17cc482 CLINVAR:91363 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71637008-abd5-4886-beab-e745068ae6b0 CLINVAR:91362 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7278150b-e3ab-47f6-9b3f-5cb0d82d5cca CLINVAR:91362 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ccfa73ed-727f-4d36-8002-4793b3359457 CLINVAR:91360 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94121f90-d783-49ae-b2cd-70f2a48d59e3 CLINVAR:91360 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32894ecd-e1f7-4086-9054-e56ecd43b101 CLINVAR:91358 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar acb3501d-c953-4200-ba8b-3bc98fdca5d7 CLINVAR:91358 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36260283-3c67-469c-ae3b-5a7cb25ade1f CLINVAR:9234 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3a04dd8-6477-4acd-8f0c-3d2a55c65c12 CLINVAR:9234 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64cbcc83-5e50-4df9-ad2e-aec85ccd1a7f CLINVAR:91345 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a24da9a-75d8-4595-a7ba-c6499c415947 CLINVAR:91345 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e5566874-695c-4841-995a-ab4ce0c39002 CLINVAR:91332 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2241225-e76f-4971-96bc-6377d7fcaebe CLINVAR:91332 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b32398cb-786e-431f-9cac-be5492dd51c3 CLINVAR:91316 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 526b7cd2-2456-44e5-be54-58a64372a5bc CLINVAR:91316 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9770f334-c0b2-498b-8460-54b482fec261 CLINVAR:91308 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8880f4e5-b847-4802-af27-293444cd9cba CLINVAR:91308 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3b7449d4-1876-4904-b60e-917b1ea73df7 CLINVAR:91307 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f27a9db-d5a2-4594-9331-2ed2128b161a CLINVAR:91307 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c28f9122-4c9f-490f-8e67-371245526672 CLINVAR:9245 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 665461ca-05c6-45cf-b190-ffeafeab951c CLINVAR:9245 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1b614458-7664-4e2b-98a8-8ff03bcb74f8 CLINVAR:91341 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd109b2e-36ae-4ba7-a049-d66353e37666 CLINVAR:91341 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6cdc3b5-65b8-48ed-acd9-754518df1729 CLINVAR:91323 biolink:is_sequence_variant_of NCBIGene:5395 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2d425d3-ec8a-4d58-b736-16aaf88a31b7 CLINVAR:91323 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ff28b509-5df9-4a9c-93a3-f325b72e6c93 CLINVAR:2571664 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70a9c678-6d13-4d5e-aeb5-f693e5a900c1 CLINVAR:2571664 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b20fafa5-97eb-4b94-a44d-f927e83ea21c CLINVAR:2571647 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1426720a-f1ca-4571-a4e5-24f793fd0185 CLINVAR:2571647 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8f8e881d-c27d-4374-924f-1fde30aeb3f0 CLINVAR:2691823 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9180e0d7-646d-41d8-b108-e6d7df6e4139 CLINVAR:2691823 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6e8f692-894d-4bb0-b869-5517b8e33537 CLINVAR:2578350 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbf3a073-e156-457f-9131-dda96817e69f CLINVAR:2578350 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f56ce72c-f54b-4135-8aeb-34eca05d3eac CLINVAR:2578351 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 546f93b7-03bf-4c15-8387-f82b52db5460 CLINVAR:2578351 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 20458ff1-305f-43b1-bd46-05c47cfdeb6f CLINVAR:2505488 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4b7ec9a-691a-4d53-b476-870e430ee86e CLINVAR:2505488 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 66905807-dcc4-44a9-adb5-9198c2690134 CLINVAR:2571642 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8d14070-d2ed-440d-a354-406e19631333 CLINVAR:2571642 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b67b9404-2f77-4ea7-a045-632ca022519a CLINVAR:2571655 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b3779e5-1c1a-4e93-b466-9beed7f4e365 CLINVAR:2571655 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06389762-bb2a-43b7-ae51-1e6fe664392b CLINVAR:2574159 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0a6839f-52fd-439b-80ca-5fb272fa12dc CLINVAR:2574159 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b941007-b56e-40f2-b966-37a9343ec8fa CLINVAR:36201 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e8d681c-950b-4e43-ad3e-c05792980930 CLINVAR:36201 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4780d0b4-9290-4d14-8c74-775f3eee6727 CLINVAR:2571663 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec8d9e5f-d1df-4cde-90c4-484fd3a4785a CLINVAR:2571663 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 980ff3a1-06a5-44fe-b74c-3d865bf01c59 CLINVAR:1365679 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac4978b4-f7b8-408d-b5b8-dae280ae0505 CLINVAR:1365679 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37d66e10-5072-4753-9225-16f7e4da284f CLINVAR:2578360 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a274391-7ccb-461c-b92a-37decea67860 CLINVAR:2578360 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5f896329-d319-4d52-95fb-d142f78d80b3 CLINVAR:585916 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e1ac0c6-c697-4e6a-b0d3-e48a31ec99d5 CLINVAR:585916 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 201a16f1-eb6f-424b-9aae-8785ca8a58f7 CLINVAR:2571646 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18a2ed44-ef73-4984-87f5-0e03b9baf784 CLINVAR:2571646 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 911d1289-af17-4e80-900b-8f5a8790860e CLINVAR:995104 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd94b644-215d-4f71-be91-78a580f0e09e CLINVAR:995104 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 66fd59b1-429c-4269-a3c9-2afc1aec0ad8 CLINVAR:3068512 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47150ff1-fb3d-420d-abdc-c9fdb72b8999 CLINVAR:3068512 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2a4de0e3-b929-4032-b9f5-f6b78655aa1e CLINVAR:393447 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a75b2994-795b-478c-ac6e-b68547ab7f39 CLINVAR:393447 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d4e5608c-3ce8-43c7-9223-ecbc5d3f3314 CLINVAR:804844 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55e9058b-ed4f-4085-a9ba-a82b3c430d09 CLINVAR:804844 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6cba2f5f-9a0f-4e6b-86a0-e4c32d09cc63 CLINVAR:3024416 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cb3889d-d9d7-47dc-bd71-f16166e4541b CLINVAR:3024416 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5f2dddfa-eaa4-41cf-b3dc-6659fb442b79 CLINVAR:1708917 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92675de4-480d-407c-b1bd-83888543af9f CLINVAR:1708917 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 61578573-4ee6-4f27-8206-2423b66554d9 CLINVAR:2734986 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed403c9d-57d1-4300-a6a8-de0da7a61e5d CLINVAR:2734986 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 742785b5-e279-445a-8db3-fc1100363dae CLINVAR:2578361 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79807783-352e-4a0f-bfd4-ab8d22dc69ff CLINVAR:2578361 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 10c9b826-7b14-4c4c-b0fe-842d834c9c9d CLINVAR:1770532 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93bc27d2-5c74-4163-8502-0c2b5e8df946 CLINVAR:1770532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1763a95f-f647-4865-877d-cd5bf4bf33ac CLINVAR:4845619 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2db1483c-33ea-4c58-a4f5-12b472a0b8b1 CLINVAR:4845619 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 86b3d544-678e-49b5-a084-d01f9ec3060f CLINVAR:2578358 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f0e2288-22bc-41b2-82dd-e5cf231e8ed1 CLINVAR:2578358 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel add382a6-f691-4e5b-8d8d-157c43ab8951 CLINVAR:2571650 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d4dc3f9-a30c-4bcd-8f61-02034e111a3a CLINVAR:2571650 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e91ad29-9c8f-42f6-a898-b769316e9aa2 CLINVAR:3233991 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ac97d9d-0c67-4d0b-b55c-b47cc083ff99 CLINVAR:3233991 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3a45de2c-a7b6-4244-9d1b-0e63f56a952f CLINVAR:36199 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3c5fe50-cd24-4a5f-b01b-2175948fbfa9 CLINVAR:36199 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 993a9d7c-d5e6-493b-b5df-8fbc5f236f62 CLINVAR:393448 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc1f9c15-09bb-4382-b304-b5a44d60df6b CLINVAR:393448 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bea8edc8-8404-4640-8e6e-81c1bf3a4c6f CLINVAR:2571648 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cec8dea2-38d3-4444-bcae-d2a819fb5758 CLINVAR:2571648 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d558c25-7629-4518-abd5-ac41d182e8fe CLINVAR:2571649 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96edabad-e9cd-42aa-8b1d-4e351b306092 CLINVAR:2571649 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f0c811b-d8b5-45d4-8e14-d309e0050379 CLINVAR:421604 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 961cce4e-2187-426a-a0b0-95151c82a9a4 CLINVAR:421604 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13cac2aa-c4ec-41cd-abf3-0042282b39b8 CLINVAR:36197 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4486663f-8773-45e8-aa88-949dc9edbbe8 CLINVAR:36197 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 72d5df77-19f3-4d13-ab32-8e6c71bbe535 CLINVAR:2574161 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc7c3cf3-5d2c-469d-9c4d-7e684185aa64 CLINVAR:2574161 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5b25d57c-2f31-4789-8c3f-68b0f40321aa CLINVAR:585915 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2fe7417-b59e-41e8-9de9-56a76e81a075 CLINVAR:585915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2d7f361-028e-4f4b-9950-c22bb7cd293c CLINVAR:2571651 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a81b1c6-da1f-4e11-8af2-ce48dfce59fd CLINVAR:2571651 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5482c34b-b372-4219-84c5-3db995e86fb5 CLINVAR:1320655 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5745141c-336d-4c45-a6a3-b2d41615270b CLINVAR:1320655 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c197034-a7e4-40c8-95d4-78378f0d2f03 CLINVAR:2581124 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79daeca5-27b9-4787-8830-7801f39d73be CLINVAR:2581124 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46998fee-3002-4dec-8263-f61e7c4e2041 CLINVAR:2571644 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c1710c7-7095-49b7-badb-f95d35e3e3fd CLINVAR:2571644 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ab164a75-ce54-4a59-a256-50f807fa9ff6 CLINVAR:2571652 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97c82263-1f41-49ec-8b56-6dbb100b2254 CLINVAR:2571652 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f418081b-cd27-4dcc-95ac-4a84b5738266 CLINVAR:2571653 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78fc0d3b-dc04-429b-be2d-b9708a013602 CLINVAR:2571653 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32397e41-db59-4391-8e60-09306f98584d CLINVAR:585914 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1cdbaeb-adfb-4363-9339-ba0acee35c3b CLINVAR:585914 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dfa52c0d-bef2-42c9-b01b-4b70e3682d1c CLINVAR:2664363 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fa83402-e07a-4c02-8a8b-7c6fab8423ac CLINVAR:2664363 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ab210d78-bccc-42a4-a9fe-bef9233a6b6d CLINVAR:2581127 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bef28fc8-a754-4897-ae9c-acd3d7eadbf3 CLINVAR:2581127 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1293c608-6dae-48f8-a8a1-004e806ee3ea CLINVAR:36195 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33546d30-86e6-49c5-b5b2-32200353dcd0 CLINVAR:36195 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d04848a-81fb-44e9-90ea-77e79eb05ffd CLINVAR:2691824 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5f3935c-7cae-4c42-8d08-72256882e367 CLINVAR:2691824 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 095eefbe-78df-4914-ae4f-df425870c662 CLINVAR:2628360 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7ac3aff-0c0f-495c-adda-c2bdd72e066a CLINVAR:2628360 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d7378697-df1a-4422-bcef-e343ef3a8d6d CLINVAR:2571654 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aca10c05-3631-424f-a431-87126fc21208 CLINVAR:2571654 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5416729-e348-453f-bb39-f354ea765f7a CLINVAR:2628361 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f182df90-be4b-4538-afc0-01c6430d956d CLINVAR:2628361 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2d7a3d9d-0012-443f-9591-799f4cc1b5e8 CLINVAR:1769182 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1c921e0-04d3-44b8-a330-abd79dba4e6e CLINVAR:1769182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51d8321e-27be-41c8-857d-4a524fdc074b CLINVAR:36191 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9a426ce-cd66-4caa-80db-374ee83adb36 CLINVAR:36191 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dc81c7da-ce7d-417c-8a65-8b27feb46b70 CLINVAR:995103 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3eb7ffec-a681-4a21-93a0-d413c7fc11ea CLINVAR:995103 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 04078a2b-9ace-4f3d-94f4-060cc0294a89 CLINVAR:1301411 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0b26a2f-e4c8-485d-898a-6b58cd64d415 CLINVAR:1301411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8c3d7a90-3445-40cb-b353-8dce977d2ea4 CLINVAR:2571645 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27537593-153b-4e21-a96e-8672d276a26c CLINVAR:2571645 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7579b327-9b7e-4da3-8103-794b8bab9750 CLINVAR:1709730 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44a5a662-7681-4a46-9da9-e2c8acfece6e CLINVAR:1709730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 682f4bb8-7225-4ab7-88cb-6c9ce102f3ee CLINVAR:36189 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af3e73c5-914b-4df2-abd2-d093832a5e63 CLINVAR:36189 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4aea28f0-dd59-48b8-897e-83465a15ed18 CLINVAR:817706 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 987e12f9-1ceb-48e2-a0dc-4bd31648642a CLINVAR:817706 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 00bcd6dc-a859-40bc-88a3-d679e7787122 CLINVAR:2571657 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 929fd00e-4d7f-43fa-b3b4-1640c221f223 CLINVAR:2571657 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97bebc69-ca3b-4819-b20a-9dbc71863f90 CLINVAR:2571656 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 002fd4c3-5bd6-42df-8090-d99dc03fe4fc CLINVAR:2571656 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c57e02a9-0f8c-4ed4-9c89-592789797917 CLINVAR:2581129 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d33db1b4-aeb9-4c6a-b00d-94759cba39d8 CLINVAR:2581129 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 622f05b0-d8b1-4e74-8f29-df8ecd1019e1 CLINVAR:2571659 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52e74e93-9600-46cc-95f2-241f377fa6cf CLINVAR:2571659 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc5a3a05-d298-4e96-b784-de6de4055004 CLINVAR:2571658 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17bf6c25-40f5-4552-b6f7-bf8b0dbbd5d8 CLINVAR:2571658 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a7a40bae-be9d-4aaa-a4c9-4aec8ca601cb CLINVAR:2571661 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0a997e2-6ac7-4b5d-9341-80ca209ed234 CLINVAR:2571661 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c1c255e-48ff-49d0-a0f2-aef4fbcf42ca CLINVAR:2574160 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49525f64-806b-4db4-b94b-0a8fec35103b CLINVAR:2574160 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d49dec8d-da34-4050-b79b-633ad5fed6bd CLINVAR:2628362 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02f892fa-874d-4fad-8ce6-1e025d64a304 CLINVAR:2628362 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 124f6b04-faad-402d-83af-b91683c35609 CLINVAR:4845620 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15427318-5c2f-456f-87f5-1d921ebf7cba CLINVAR:4845620 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fde1b239-53e3-4617-bc65-36a9becc60bd CLINVAR:1761162 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bad0f49f-8aa6-4b06-875a-57bd372edf73 CLINVAR:1761162 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5cec433e-1853-45f9-a1ba-94b54aea8fa1 CLINVAR:3030720 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e075648-90f8-4011-acaf-83a55403cfa2 CLINVAR:3030720 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a92bca29-5da9-474f-acde-3b6de17ecbad CLINVAR:4687875 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 103a9dd2-cde5-4b79-b9a8-58075946c4ff CLINVAR:4687875 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0110b7e4-d1a3-4242-94d3-32da8c45bbd1 CLINVAR:4687876 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e95c074-0679-4ee5-9a33-19310d3a3332 CLINVAR:4687876 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9efc0449-9114-4942-a6e8-dff7858bb63c CLINVAR:1700674 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e5d14d8-aeda-4044-85c8-69c019793134 CLINVAR:1700674 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0f32726-0a14-4a93-9e68-ceadaa32550d CLINVAR:804839 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c7865f2-6d65-4e5d-a1d8-bb74be395be2 CLINVAR:804839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 802bc4fd-7f6c-48ed-9979-07b67ab4b618 CLINVAR:4687877 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60892fcc-52bb-45bc-b4c3-7b9d67f600c4 CLINVAR:4687877 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 996ad854-42b7-4f0e-8c55-783af7eb7e65 CLINVAR:4687878 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7a647ac-2211-4402-a380-21bd1c9372be CLINVAR:4687878 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1dcf090b-1337-452a-a03f-f47320c81a37 CLINVAR:2581128 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 699b5d59-ee0b-4cf6-8e02-c1c67180739f CLINVAR:2581128 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9797da1-23e4-43d1-af5b-5026accf8edf CLINVAR:36188 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33dec3ad-c8c6-4fea-99d5-1c9500f4bc90 CLINVAR:36188 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8aa27ea7-51fe-4e3f-a261-b2380ebf9ad9 CLINVAR:447387 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 405f1b3e-710b-454b-bd4a-da04bd74ded5 CLINVAR:447387 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1327a0d-8234-40c4-89a1-72ee29beba60 CLINVAR:2734988 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 978e7b4f-21ae-4451-bbec-9426b610c6c1 CLINVAR:2734988 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a8d4713-417c-4cad-9a61-fcc0a62d4e77 CLINVAR:3233992 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3db2199e-b143-44da-a3ee-11b479a93246 CLINVAR:3233992 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf3629bf-e247-47c9-93b1-1a5e6897d195 CLINVAR:3233994 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56316b05-c217-4a65-a7a1-0a9ac6b8855d CLINVAR:3233994 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e73bdfad-36ea-42dd-a0d2-d099911ebb69 CLINVAR:447386 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b881da0-5073-4eb2-9aad-b59bf62aafb0 CLINVAR:447386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c27f0060-c6ca-48fa-8d62-622f5e6991fc CLINVAR:3233996 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d42fe602-9823-4370-8106-5ddc56cf188a CLINVAR:3233996 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9bf3db4f-e7a2-4079-8cee-5c858844c8e0 CLINVAR:1472875 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6348d4f9-0116-49c6-97d5-0786d07922c8 CLINVAR:1472875 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4925d51d-6497-4081-b5ca-5314d654dc66 CLINVAR:3233995 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0dfd973c-df5d-4872-a2ef-83b37b167871 CLINVAR:3233995 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 94e1167b-d05e-413d-894e-a952e5b3aff3 CLINVAR:21077 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 698a9d1b-ffe1-42c0-b3dc-f82f16679cb7 CLINVAR:21077 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e58a82b-2328-413f-8980-ca1f1a47c24e CLINVAR:995102 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7119508-fde8-418d-9417-efab6be89676 CLINVAR:995102 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 829c4ccf-81ac-40b0-a86d-2ed51053d0b8 CLINVAR:2734991 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bcc5797f-d70d-4113-84ad-46558f733632 CLINVAR:2734991 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6d9c7207-55f3-4f8b-91e4-a770da1df314 CLINVAR:2578359 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f6918a8-6947-423a-b552-036b55a40b91 CLINVAR:2578359 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 952ade9b-4e40-4552-9985-893c44a0555e CLINVAR:1522625 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27fe75cc-a5cd-436d-8734-b97851fa6637 CLINVAR:1522625 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d3a9a7a0-8b8f-4431-a487-a1721b0973a5 CLINVAR:2169517 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a721c301-25f2-465a-a647-47aacb7d51e3 CLINVAR:2169517 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 71d1f7f3-2ff6-43bd-bb29-8084059e119a CLINVAR:3602130 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb3bcf30-d918-45e9-a215-43a985db4d5f CLINVAR:3602130 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d25bca61-5598-4a64-bbce-59123f4cfd3a CLINVAR:36185 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55b61b34-9f38-405a-937e-a3c281899814 CLINVAR:36185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c388860b-fede-4dba-9822-d7b8e2dc266b CLINVAR:2574162 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0860ea1-3aa9-47fa-a34c-9b24156457f4 CLINVAR:2574162 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e11eee90-b380-452f-9529-238db62258da CLINVAR:585909 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9ae7376-8690-44be-98ef-245c05adceec CLINVAR:585909 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ebaaf2b-1f78-499c-bdbc-432926a764ca CLINVAR:1301416 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58b99eb6-9193-4452-8236-006ed5e75470 CLINVAR:1301416 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4fcd255b-762a-4c28-9efc-2e9364d6dfdb CLINVAR:2581305 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d94671d1-09ca-44ab-b1b2-531a86843633 CLINVAR:2581305 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1952e4b7-56e4-49cd-98c0-92ef680f6cc4 CLINVAR:1303094 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c04a1ff-26d4-4354-92b6-16ed0e1d94f2 CLINVAR:1303094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0fe8868c-23c8-4b68-b44c-2e27ef73195f CLINVAR:3233997 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d3288a2-d47f-4325-8abc-9deec2dc2e6e CLINVAR:3233997 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3b8703af-14bd-4861-8c21-05b488a0f607 CLINVAR:3233998 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36ba26da-0bae-49eb-91e2-806610044fe6 CLINVAR:3233998 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8dee5ece-387d-4c41-a8ba-3e9e4e3e4e67 CLINVAR:3250353 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4621eb0a-5b3c-4658-81c6-17eb0166491c CLINVAR:3250353 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 629f0ed5-02b4-4459-83eb-a78ac6b532e9 CLINVAR:995101 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ee13af8-601a-4a09-b889-c5be1ba5972b CLINVAR:995101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d494265e-82d2-4ab1-9fd6-852dd67913b8 CLINVAR:36182 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 173c70ab-45b9-4bd7-bf1f-3dccdfb4be7e CLINVAR:36182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b8887f2-b021-4ebb-bd7b-a6128299be8d CLINVAR:36181 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 246522ba-332d-4e63-b62a-daebc92888bc CLINVAR:36181 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ea594257-6bb5-429d-88a1-efeeba71045b CLINVAR:3024417 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39762b62-3d31-4603-be04-d033d160383d CLINVAR:3024417 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 30931a5f-b2ac-4301-be10-090432d43430 CLINVAR:3233999 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 994c65c6-dcef-4677-8aef-0ad0a0c0747a CLINVAR:3233999 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 610295e4-eec7-412b-a374-7c2abf9306cb CLINVAR:36180 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3fd63603-98c1-4fc1-a138-a35cf8399126 CLINVAR:36180 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75f798be-6e1e-494a-80f8-ea206cedbe4c CLINVAR:804837 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30ba9295-d3ff-496d-b45d-1cc36c07c63e CLINVAR:804837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47c97b98-25a3-4fc9-86dc-e75583924667 CLINVAR:447385 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00f84a45-6ed0-4de6-b2c7-e12d35a510d1 CLINVAR:447385 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ea11b2b5-76fb-45f1-88c9-df8244e21a2b CLINVAR:503699 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77d6c8ee-0adf-4728-a326-9af9d2fe3d00 CLINVAR:503699 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15a8d0a3-632c-43ce-af4e-75ab1fbe6bc3 CLINVAR:3901862 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45b5739d-3d0a-4a66-911d-7b96e1cf60ff CLINVAR:3901862 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e7585bff-084f-4472-af3b-9f3978bbc9ce CLINVAR:3901861 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87efa837-3265-4fd3-b68f-18d044a75818 CLINVAR:3901861 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5edbcc5-bb50-48c3-9e4f-f39c896755f1 CLINVAR:2065408 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9e9f03b-1a0f-49a5-9b74-64a4b8ef69f0 CLINVAR:2065408 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c312230b-15e6-4f11-bf4b-d30b7a5d06ef CLINVAR:36179 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 610b264a-9321-4121-a94c-2829c6eb9739 CLINVAR:36179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f875b917-293d-4817-ae38-bb214ac45d8b CLINVAR:804836 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cc10df3-26c7-41e9-a135-aebc02c7819c CLINVAR:804836 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6752e05c-e839-49ac-acef-f408dd667ec6 CLINVAR:2136509 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa738ec2-6d27-4346-a62a-b9b13b6043fe CLINVAR:2136509 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 294736ca-88f9-40cd-81fe-5f46ffbcd2ad CLINVAR:1734018 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e2e968d-3eeb-47b4-aaad-5c83cd3c92d6 CLINVAR:1734018 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 37021a69-b0d7-4e86-8d41-c4dc02ceb99e CLINVAR:447381 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1308089-e4c3-4e76-a950-468320035cb4 CLINVAR:447381 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d83dfaee-cbce-48ae-bb3d-61f237824c10 CLINVAR:973191 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5417bd60-e247-4a2d-9199-20466c1a9d93 CLINVAR:973191 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca0aee76-cfe6-4537-aae7-858604a5d66e CLINVAR:236014 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d2482b8-f523-4153-8e0a-df7c3a0e8394 CLINVAR:236014 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31f79385-a60b-4269-90f2-c29440e6d883 CLINVAR:3024418 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0cc0558-ed4c-4174-a6ba-e14ad0152a6a CLINVAR:3024418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 77d5dbd7-93da-4d55-8219-a3ced25cbb5a CLINVAR:3383914 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88175ebe-3f32-48b5-b4cd-97e0545f143e CLINVAR:3383914 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8705db99-792d-4af4-951d-422b509187ae CLINVAR:1256306 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36c687f3-cd0c-4684-8688-9b286e8bf1ba CLINVAR:1256306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bf20bc72-77a8-4da6-a2fe-37140a2429e5 CLINVAR:3024419 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6f07499-cf15-4688-be50-a3e556ca234a CLINVAR:3024419 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d00f7b43-8f8e-40e8-89ad-2d82a397aab4 CLINVAR:804835 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9d5f4c9-6b13-4776-a2d7-a2067ddf7a83 CLINVAR:804835 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1669d7c-61c5-445e-b36c-a647c1eaece8 CLINVAR:1256304 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f71a13d-387a-4f67-b5ec-efa36f55322a CLINVAR:1256304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4331a8e7-17b1-4c93-8535-5ccb6fddd182 CLINVAR:2691825 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97fddc68-99cd-475b-b797-0ada25033caf CLINVAR:2691825 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d72c19a-cefb-4a18-b659-b6772d006ea9 CLINVAR:2581125 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68c36275-f2db-47f8-8f8c-94479dc02954 CLINVAR:2581125 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4f2fc4b8-683b-4e1b-895f-18506a24970b CLINVAR:447384 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22afa949-08f7-4942-bc87-e71bf41b786b CLINVAR:447384 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df5f6a44-a05e-4e56-befb-342b0dd6a7ac CLINVAR:36178 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6ef372f-08b9-4361-867d-9310d4a73d4d CLINVAR:36178 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ae4da7f6-c864-4afb-829e-0b5530fa5e47 CLINVAR:2574163 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5435bd7b-f079-453a-97f2-cc0cb12eafb4 CLINVAR:2574163 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b48ea7cd-d9dc-4ded-b670-32e3a385321c CLINVAR:447383 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09d241bd-59cc-4212-9d73-f71d1f9094e3 CLINVAR:447383 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c3b17b35-ce99-4ba3-bdd7-8e8429d427e2 CLINVAR:1098819 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41656fe8-3d56-4388-82d3-c9268f09219a CLINVAR:1098819 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98424a11-5701-4821-86cf-47c79b8fe537 CLINVAR:804834 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd2c647e-aa5c-4f65-a048-e269a39512d3 CLINVAR:804834 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fbc8063c-0aa2-4d72-aa1f-3b136c51575c CLINVAR:447382 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f6856ca-ba43-4691-9227-d92ad8e3dd9a CLINVAR:447382 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6b3c0380-a0a3-4ef0-8319-42b2756f39d7 CLINVAR:36177 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb5c2797-2a62-4c84-9fba-9daf5ed55ca7 CLINVAR:36177 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 99ffcd40-e2af-4138-9a05-b0e6d66e526f CLINVAR:3234000 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9690eb90-b035-47c3-b123-f90ac129e5c1 CLINVAR:3234000 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 11a22752-77c6-47db-8408-d7d71c0b35c7 CLINVAR:21076 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55f4506c-dc03-4dca-97b9-a871b7caf91a CLINVAR:21076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8181c15-ccab-4d0a-b353-ccc25ec7d155 CLINVAR:972776 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ed595b4-081b-4bb0-a452-d63cca10d5d6 CLINVAR:972776 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5cc29ae9-0596-486a-aa90-9a34cec5d620 CLINVAR:2664370 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd255f5e-94a4-4a03-8bcd-6ee17aaca5b4 CLINVAR:2664370 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc5f9814-062b-4a86-b2d7-7ead2bc3a256 CLINVAR:2628365 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45f1e0be-6dd7-419e-82dd-771d427334b1 CLINVAR:2628365 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d156d258-2a7d-45b4-88a9-1722e6f824c2 CLINVAR:16145 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 644e8ea3-c811-4b29-995c-2a83c8413a58 CLINVAR:16145 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ae39e5a-2a59-450b-be5d-c972a7b4b400 CLINVAR:872751 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0366f0e-f00f-49ed-b45c-3f3eb1ed7d1c CLINVAR:872751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 44e83736-582a-4ae8-b6ed-ee10ebfaadab CLINVAR:36176 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bb788fb-9273-4d06-965d-22cdf19780ce CLINVAR:36176 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a2ce6e84-aa27-42e9-92d0-736a009303b1 CLINVAR:585908 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f30acbf-de31-4641-aa3d-d3626ec9ee96 CLINVAR:585908 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f85c0e7-3a8a-4820-8f82-eaafd5e2d82d CLINVAR:1727652 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3177ce8b-6534-46ca-97b1-170f4d726b62 CLINVAR:1727652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f3768a1f-09fa-4cf8-8ec1-bf2fd99656a8 CLINVAR:36175 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f8a5a9a-b6b1-4166-b421-2d5f36ee37ba CLINVAR:36175 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 38427773-6dcd-4914-9b04-c4654ea2e595 CLINVAR:2578348 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18edd915-a02d-4001-aef7-bd1e101d31c9 CLINVAR:2578348 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2f013c15-0690-4023-8554-468b118a85f8 CLINVAR:447380 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1bf82a6-52a5-476b-b23e-f2c4d59dcf2e CLINVAR:447380 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a493e027-0aac-43fc-a101-9b078cfa756e CLINVAR:4845624 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc186ecb-9870-4838-968b-3b3461b076cc CLINVAR:4845624 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bba24524-c428-4b68-a1cd-7924ffc1bd1d CLINVAR:36174 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3e3691b-ce54-4351-aeec-98a4ff945405 CLINVAR:36174 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5ae0ce60-ca3d-4ea6-857c-72c0130d610e CLINVAR:447379 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c422d5f-cf40-4ef3-81fb-b50c3c3c7d63 CLINVAR:447379 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e37f68f2-5798-4b37-b6c8-c2ebdc0a87ae CLINVAR:617645 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d09d655-ad08-483a-a03c-76fbe0203a28 CLINVAR:617645 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db8c47a1-1b94-43c4-acac-d7dc9bcd1cfa CLINVAR:129140 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar feeeeef4-5ecf-4dcf-a1da-81c38844813f CLINVAR:129140 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 727c76ac-a332-4e30-a778-6f30ddcabc14 CLINVAR:2578347 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8e15bc1-be20-4764-8ff7-6ede715613b7 CLINVAR:2578347 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fb0e92cd-3b47-4499-ad38-5dacc593a5e9 CLINVAR:2578362 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 523e6896-80fd-4a78-8d04-da1b220b8f32 CLINVAR:2578362 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b3303fa7-1746-4795-ac1e-febf531e5a75 CLINVAR:381598 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50feaa7b-fdd9-4809-ac14-7d65ce3fb4cf CLINVAR:381598 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1879d27-5b36-4ffd-b3ff-6d974fc12592 CLINVAR:3383915 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb39a8c5-be31-4669-9b6d-041f862df91f CLINVAR:3383915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35d356db-f9ee-4df6-8b1b-d4034054c293 CLINVAR:418228 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fbb232a-6774-42be-af23-b45b781cf149 CLINVAR:418228 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c38db25f-9272-490a-86f5-21867752270a CLINVAR:1679547 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2402b5ca-84fd-4190-8b94-11f88ffac87e CLINVAR:1679547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa95f299-d003-402f-b091-f092611c934b CLINVAR:1803547 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0354d744-b287-4ae4-b0d4-d487dc2c76de CLINVAR:1803547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb9b9ac7-399b-47f4-91bd-f312ca73b2bf CLINVAR:4071499 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d4f024e-5e68-4806-ad3f-d053c83c9609 CLINVAR:4071499 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1aa37835-b066-4154-ad2b-a92a57e278e6 CLINVAR:3893306 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2c2606c-cbac-41ce-9eba-8f49d686a9b5 CLINVAR:3893306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 324c9704-bcef-4b26-9d84-1ebfd91abb35 CLINVAR:585907 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e081e65-9476-4da7-a8e6-d59edf15c78f CLINVAR:585907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4a6d3f93-f7d2-4a5e-9197-080fe1760d43 CLINVAR:36172 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 116aaa00-a708-4e24-9a70-61cda6891b0a CLINVAR:36172 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 57c24e9a-5dc5-41d2-a54d-8e32ed364b0c CLINVAR:2682417 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3979a60-7148-4742-9b35-f275437fda28 CLINVAR:2682417 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 49d8dbe7-69fd-445d-bfd0-84b0826c8656 CLINVAR:219179 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 204143f1-5f86-4a1a-b298-a15c184053a3 CLINVAR:219179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ce622b4b-10dd-4a7d-a68f-c2d6c1cf4907 CLINVAR:36170 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78ea7b67-4958-4627-b3e7-4b31e832f3b7 CLINVAR:36170 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 40325bab-a0e2-4d68-9a6e-78400137177b CLINVAR:447378 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b23d69f2-44cd-4653-9d7c-8d757d519f94 CLINVAR:447378 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1370e02-b90f-41f6-a1c2-ec0554252d44 CLINVAR:36169 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a74ea04-3350-47dc-9ef7-628635f273fc CLINVAR:36169 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5118a61-ca93-4d0b-80ce-9c729c546ff7 CLINVAR:2664362 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91ad82a4-a087-4335-a40d-9b6834b8e42f CLINVAR:2664362 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b2e22ca3-220f-424a-8f9b-bed9e46b44e6 CLINVAR:21075 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1551162-2555-49ce-b71a-7b83e3847604 CLINVAR:21075 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2914fa95-2150-4f98-a62c-4074f0966953 CLINVAR:2664361 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e43795a1-ef6c-4505-b279-4887ec59bf32 CLINVAR:2664361 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c22d50f-6084-44fd-ad3a-7a3bb0f91c9e CLINVAR:2664360 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68273ae8-fdba-4388-9d67-b23ad3f74947 CLINVAR:2664360 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 348e4f7f-418e-4224-9d64-d36313f67d14 CLINVAR:2580863 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d2dd888-3302-46c9-a861-1aba5dd0de2b CLINVAR:2580863 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd4c74fc-f2bf-4e4d-8d10-f5ea0dd4c626 CLINVAR:1405403 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb565fce-5ebc-44df-8c85-6c297f09eb03 CLINVAR:1405403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92634a1a-cad6-448d-955e-4f05d0c013d4 CLINVAR:393450 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 948e9f55-3b37-46e1-bad7-081ddc014f7d CLINVAR:393450 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2a66d3b-156a-4999-9e06-089278324ea2 CLINVAR:39759 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93546022-301d-46a0-a1c3-4c17a276f71a CLINVAR:39759 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aef0eb09-4c7e-4044-9480-057e0d70ebf2 CLINVAR:3602116 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba1829c5-31f6-4513-be66-a1a995e5b19a CLINVAR:3602116 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 535e4b38-11ff-499f-be98-ca491f4e5234 CLINVAR:2664366 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de193d3e-1f92-4069-a119-99e4dd4447b8 CLINVAR:2664366 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 455b4fd9-2b13-44e3-a84b-615ea21905bb CLINVAR:585929 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a490c6d-28d4-4f6e-a8f7-b3698a6b0c01 CLINVAR:585929 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c9d2bd3-6448-4a73-b9a9-4f14b439b784 CLINVAR:447426 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4beb13e5-1e3e-4fb4-b7e4-013bd00b7ffd CLINVAR:447426 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9e72f1e7-d61d-44a5-b335-a2b49a97187b CLINVAR:447425 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36089448-6c59-4a70-bf36-cfeddb8cb039 CLINVAR:447425 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25fd8949-5f0e-4427-822f-7951a842599f CLINVAR:2578349 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7950443c-cd90-437d-bd7b-ea57b10d713d CLINVAR:2578349 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c97840dc-d2af-4c0c-aebd-0207859cbaa1 CLINVAR:1436793 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b12f190-f825-41c3-b253-14ca92cc1ae9 CLINVAR:1436793 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5f2fd153-dc54-4bbd-91c3-83bf684eb037 CLINVAR:2578352 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c606fed-1104-474e-adea-08f8e190f81a CLINVAR:2578352 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d26f009e-1d7f-4258-b541-2252e38a6477 CLINVAR:994613 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c175c248-9299-44f3-b8bc-b717df02475b CLINVAR:994613 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b561c759-9f7e-451f-ae0d-c2aa3bd7f7ce CLINVAR:447423 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9d55ed9-d621-4f6f-abe8-0318e073514f CLINVAR:447423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 46c70ef3-6d0b-49e1-ae8c-4924714f0c17 CLINVAR:3338870 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d19366ab-2cb7-4070-b79f-ad118ce2643a CLINVAR:3338870 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eead6b3a-ad3c-4f7d-9b16-41096d8d3d6f CLINVAR:1700683 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d8f2bd5-afd9-46bc-8f6e-4b23fe74a9c6 CLINVAR:1700683 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37ec1930-9a23-4de2-bab3-0ed0bf01a9e5 CLINVAR:804861 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e94f7224-5e6e-432c-8207-ad41f8deffd2 CLINVAR:804861 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b789e167-7e35-4523-a6f2-8e122e2f2aba CLINVAR:3766052 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa54639c-a73f-4bec-a981-978d5cb90116 CLINVAR:3766052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5db19b8f-2ec7-457b-b6ab-aed298a5f4f4 CLINVAR:585928 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c300fa70-da45-4c24-9ca8-b9d80daa9238 CLINVAR:585928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 548e0458-4bf3-4999-bfc1-ce54b2d80962 CLINVAR:447422 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffd87dc2-7cdb-4a52-9f8b-1a8d6c33e10e CLINVAR:447422 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6ff042cb-f921-485d-bda9-2ecb37b6f600 CLINVAR:435310 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 308ee8e1-a04c-456f-86ad-e97da3149caa CLINVAR:435310 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 549140e2-b208-49c5-8142-fc12b3ccd7e5 CLINVAR:2581126 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a102df82-28eb-486e-95b9-a9c8c8e0f15a CLINVAR:2581126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 88d7630e-bdb8-4ddd-b464-ccb2fe9769ac CLINVAR:585927 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f720f0c-8e06-4e38-badf-6a9e27dffa05 CLINVAR:585927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57306f71-6a6b-4701-915c-381951b410e0 CLINVAR:2664365 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e236fe2-322f-41e4-b881-61896c54d12f CLINVAR:2664365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62983004-dfbe-48b8-9020-44698b9e10f3 CLINVAR:994611 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0180b34f-1285-44fd-b3c1-f8cb84130089 CLINVAR:994611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 059859f7-72e6-4487-a625-d5f782d1a436 CLINVAR:3383923 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5e328df-9590-4c64-948e-54351b477834 CLINVAR:3383923 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 82df997c-6018-4675-a9a7-8fb597e15edd CLINVAR:3383925 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 912ae605-b430-4571-ae65-2b357e97d816 CLINVAR:3383925 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed5f524b-604c-43d3-928d-c17c984ade9a CLINVAR:3383926 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a716365d-12f8-4c81-bb23-b23085d9ab89 CLINVAR:3383926 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel de3d074d-78fb-4c65-9a26-86d6d1760a05 CLINVAR:3383924 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d37417d-b1a9-4f29-89c5-adb20cac01f2 CLINVAR:3383924 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d6a4b546-f20e-409b-b0b0-1d0d731a539a CLINVAR:36259 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8af0bffd-cea0-4cf3-8e0f-498912dc3221 CLINVAR:36259 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1ffad045-9676-4059-881b-6518cb3692a9 CLINVAR:447420 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eac0c3d1-6607-414f-9a00-c52d3c472011 CLINVAR:447420 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9ed8e27-6995-42c4-92e0-96e7e7a95486 CLINVAR:3893274 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38044bb6-b3c5-423a-ad0c-41b0d6be8ca0 CLINVAR:3893274 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cebd5346-4d65-4e99-a5d5-c406004e4be6 CLINVAR:21078 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2174d13-9cf6-4625-bce7-d9aa950da5e7 CLINVAR:21078 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89f481fa-5290-48b5-98c4-f2d3c7ecfb9d CLINVAR:36258 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ca425e4-e0ee-4b48-baa9-aebb7fa1604f CLINVAR:36258 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac6b73cd-3101-4012-8914-8a76020066f9 CLINVAR:2578353 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a631a67-66c6-4ff2-87ab-29fdda760bda CLINVAR:2578353 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c158de62-0999-426a-9980-71a9ac4f861f CLINVAR:447418 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75fd96be-a93e-449f-97b3-619c852780dc CLINVAR:447418 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7f91ea3-d13c-46a3-9094-5aec81e6271a CLINVAR:16135 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df198942-fcb0-48e7-9780-7f8ae87f860e CLINVAR:16135 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef7368f2-378a-4509-9614-49ba84bd4ca3 CLINVAR:447417 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2081b94f-1435-4f8b-9210-8abb65465664 CLINVAR:447417 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f648a83a-f968-40ca-b85b-cb1e5f0d9d82 CLINVAR:2578354 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c6e7dc3-9ce1-44fc-9841-5270a28d1bad CLINVAR:2578354 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b10a462c-cc39-40cd-abf3-1a0da21fc9e9 CLINVAR:435302 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afc14b4b-9d45-475e-b415-f21ac61b7451 CLINVAR:435302 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea4a19d6-1ea0-421f-b4dc-e41b02b8220a CLINVAR:972775 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01af3bab-a751-4142-a1ea-8f795df90462 CLINVAR:972775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3043130f-d00f-4513-93da-0610e3c8c474 CLINVAR:804857 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 058e5844-4f27-4a99-87d8-ea5346558f20 CLINVAR:804857 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e8bb693-4d23-46bc-9c0d-af0f1da6bc02 CLINVAR:918070 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5686dedc-44b7-4e3a-9873-66b72afe4cc3 CLINVAR:918070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fb6a4c6-f2a5-4ced-8435-f42fff3a0b71 CLINVAR:3720739 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfe4c895-c265-418e-aec8-40e5980104c2 CLINVAR:3720739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b491e3f9-5a50-41b8-9c1b-85729310163c CLINVAR:4531184 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b657429b-65d0-4bd2-b9da-f891f4dc37ae CLINVAR:4531184 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8d91057-963a-42ff-9a95-a86bae94f8c8 CLINVAR:2735005 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59900d7f-c755-4d95-a5da-2bc4a8308945 CLINVAR:2735005 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2103ca15-6436-4819-ac0c-e462b1f18875 CLINVAR:435311 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7cd0ad1-e8e2-46aa-89a6-5129ee015840 CLINVAR:435311 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2892fb84-4b82-4da9-a696-0cdbf4a5d9f3 CLINVAR:393451 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adc81bb2-106c-4886-9b56-2cfc46b52270 CLINVAR:393451 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05bd0bdb-7a18-42a1-b13a-8185fda65cfc CLINVAR:804856 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d935dcc9-7042-48b6-a836-a7dfdc76bd7e CLINVAR:804856 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2a9bb403-3121-48a3-950f-ce5c955d23ed CLINVAR:995373 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd894064-a73d-4222-a6fe-85202fd25c73 CLINVAR:995373 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 631db496-ac59-4353-a7f1-37b3afb5fde7 CLINVAR:995372 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8688adc0-060f-406c-a30a-94ed0718b9e4 CLINVAR:995372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a2f686f-8773-431f-a700-fbef5438d3ec CLINVAR:4687879 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68e34cb8-8e22-41a1-ad0b-e9c5f55389db CLINVAR:4687879 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1d45d321-71e9-4493-b9ff-0078fbfec1b4 CLINVAR:36248 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4d4a12a-93e5-4a91-bb1d-e8d46df05dc0 CLINVAR:36248 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f7b7e04-431f-4fe0-b894-0ee88f0b7760 CLINVAR:381599 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f44a586-d5f6-4980-a983-d1bff7011719 CLINVAR:381599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5a87967-521a-4a01-b611-fe04c1edfd2e CLINVAR:2628366 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec8f5918-129f-4ec2-ae63-268ed8e4369d CLINVAR:2628366 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c75380e-4b56-484c-a7ff-3b13c920d2d9 CLINVAR:198397 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f85d2e29-3c68-4c1a-ae37-8933477d5447 CLINVAR:198397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8bc6d923-1cf8-4ea5-bfa9-c62bd0efbc35 CLINVAR:16134 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79221f4b-04cb-47ab-a41a-8b69a199824a CLINVAR:16134 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 055289c0-b1a3-4579-8425-cd5ef460efad CLINVAR:3024420 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43b195a5-790c-471a-9551-14946fbc9d0b CLINVAR:3024420 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77582308-b887-4259-8bbc-523fbd0535fe CLINVAR:3024421 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50a582f1-3a2b-44c3-b7d2-589051c51bf9 CLINVAR:3024421 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df42c1c0-5177-49af-b863-9db0490a3fc6 CLINVAR:447413 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06acf49e-fb21-4e59-8316-3dc8ff22669c CLINVAR:447413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a4c0c4e-6f4f-4123-879d-21ea440ab14e CLINVAR:585924 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f4284dc-6ee1-470d-a016-b58a46825cd1 CLINVAR:585924 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b49bcf7-eb06-4e5c-8da2-f1a8f6a2230e CLINVAR:4087765 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd9c6a24-b671-4bea-9588-446161b0aeb1 CLINVAR:4087765 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a74732e4-1ad0-41e6-943f-66beaee826f7 CLINVAR:2580860 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0025f6a-2793-4367-af0b-a2489d87c3b5 CLINVAR:2580860 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3915ef4c-2b39-429d-8c1a-2b141ea04672 CLINVAR:2691831 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb69899f-abf5-40b5-9354-3d7ae5ec6ffc CLINVAR:2691831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 659f1a98-e5e8-47f9-b1bf-35e684660a77 CLINVAR:3768773 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37ca55f0-79a3-437d-a6de-624c8f186e2b CLINVAR:3768773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 400b6171-9c80-4edc-bcaf-d86a22f9ab2b CLINVAR:3906939 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03d605e8-e7e8-45ee-bd4f-f787c3e4f12f CLINVAR:3906939 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5cfdcca2-ada9-4416-b26b-a935b8ab2ac8 CLINVAR:2580859 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 417ac210-1e2d-49ca-b22e-646e24768e47 CLINVAR:2580859 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9b41664-5e04-4fb6-973d-462f70a91aeb CLINVAR:2136518 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50dd80cf-1dab-4971-836a-a129ea7b2287 CLINVAR:2136518 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f0dfd31-caa1-4a11-b35e-0cb9847681bf CLINVAR:36244 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7795f96-51d2-4271-8fe0-9a08babd50d5 CLINVAR:36244 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fb4007c8-35ab-4474-92a4-9d8bb574b5c9 CLINVAR:36243 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11223c5a-3bb0-42f3-8c7d-1f6eb5ca3de5 CLINVAR:36243 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb12f2d9-6dc9-4226-ac1a-0701643f6cf9 CLINVAR:3906938 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23f17910-1ccd-4fd8-859b-473738023e27 CLINVAR:3906938 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 179388e4-5d1b-4b5f-ac03-b8cd2c81b87b CLINVAR:1464253 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a11dc4a-1baa-4900-ad47-3932f4dd6a8f CLINVAR:1464253 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ca6824d-c991-4605-858d-b87e1cf101b4 CLINVAR:36241 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 287780ec-da12-4eeb-9a72-4877746f08e0 CLINVAR:36241 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec0efecf-4d5b-477f-9144-202908810189 CLINVAR:1172896 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7be6669a-9164-4713-81ec-88fd92b6cf64 CLINVAR:1172896 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 84865849-3afa-466d-bac1-9c474360a5fa CLINVAR:36239 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ff941ee-ba4b-410c-b586-f720330a6e63 CLINVAR:36239 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a9bafb3b-0725-43eb-b824-3a09cd3bf80a CLINVAR:36236 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c8d8f01-32f0-401f-bbb7-e43ac40fe293 CLINVAR:36236 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 650861a3-6fa3-4878-8a35-b41ef42f7d20 CLINVAR:2691826 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58a91c77-ef47-48fb-8824-1cb090dd8e40 CLINVAR:2691826 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7fcbc3b-3c8a-4b23-a902-6e7fa2fe007f CLINVAR:804852 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1ec11a8-e027-46f5-95b2-efe1fd462a7f CLINVAR:804852 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f977747d-ba61-4d55-be6d-cc15818c51c1 CLINVAR:16141 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c4ab2b7-c25a-40b1-aada-2aceec09808b CLINVAR:16141 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ad5f2df-0869-419a-91cd-f140fb050fdd CLINVAR:2505486 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03b0a2e9-a149-44ee-b0d1-d5c8689c4c35 CLINVAR:2505486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 28be6dcf-78a1-4281-aa88-932c4ccf334c CLINVAR:2505485 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf0c9f7e-8c83-47ce-856e-9439968261bd CLINVAR:2505485 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7212f4ae-93f3-4fce-b102-9f0e95593f80 CLINVAR:804851 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ce41f19-90de-4622-a128-033737253966 CLINVAR:804851 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f08db747-76cd-4025-9adf-a142bb736595 CLINVAR:4687874 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e890f54c-1ecb-4543-a0bf-375ccedda643 CLINVAR:4687874 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 17836d28-b862-45e8-b516-95724d13573e CLINVAR:3661587 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15f18e79-ea83-40a4-9548-19f34a9180cf CLINVAR:3661587 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f49383da-2b74-496a-97d6-e8cf71e0e343 CLINVAR:447411 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 819ad5ee-4a7a-4edb-8d57-297e20d9c98d CLINVAR:447411 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97672d4f-6adf-4c57-aada-05421a5f7626 CLINVAR:2691827 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a42a1ce8-dd94-4c70-adfe-cb8e78114716 CLINVAR:2691827 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 99cd5ed0-6ead-412b-8f55-76a79dd3faa8 CLINVAR:804344 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cfb46a9-b793-4069-bd54-278cf2b98b16 CLINVAR:804344 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 610cf080-a09b-4d44-b691-9f62db8e0ecb CLINVAR:585923 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e721b11-aca3-4742-aed9-e62095be6ac2 CLINVAR:585923 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a957cf1-7700-40a1-a58e-3d701ee99fca CLINVAR:3234002 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c04e7346-d97b-4c94-8046-9d17238c9dcb CLINVAR:3234002 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8bd68589-24a3-4804-9762-d09ac8ace210 CLINVAR:36233 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5739e9a-d01e-4c51-8562-6df88f709c00 CLINVAR:36233 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b142e317-8ba9-442c-ade6-42214e7e4fe6 CLINVAR:198050 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 276853a2-0e32-4cea-8f8b-5081de0abbd0 CLINVAR:198050 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f3d435b-b4c5-4426-8606-d2db20517d81 CLINVAR:4531182 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63a4f718-3387-4bb0-907a-f6dd21c622a1 CLINVAR:4531182 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fa448861-c29a-4faa-ae45-cea57efdbc5f CLINVAR:2580855 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37e91179-d103-4881-8b5b-3f864e09034d CLINVAR:2580855 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b6b414c0-34cf-4568-9522-60ed7bdfe09b CLINVAR:2431839 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83babb47-eda1-47fd-b798-277280932c7e CLINVAR:2431839 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 910c8c05-6762-4faa-88cf-b81deef5057e CLINVAR:283358 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e501b252-b219-4613-88ae-78ecf00302b5 CLINVAR:283358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 718e3863-ea67-4381-ae83-4c3cdf8be577 CLINVAR:426122 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d7bb40c-8697-4246-b7f0-ed0e5fb57fe0 CLINVAR:426122 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 338d2865-767e-4e90-a6c0-84c7a0136106 CLINVAR:2664364 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2352c557-712d-481f-9301-02df0232541e CLINVAR:2664364 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9683049f-c126-4009-8389-ba086aa3cee0 CLINVAR:431972 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45d39475-6365-4ff1-99e9-bb48f8b32d06 CLINVAR:431972 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd223b4a-8953-480e-a1eb-d29760bb4bbf CLINVAR:3238986 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 136abbd9-2a5f-4a1b-8ed9-1a336dbb9348 CLINVAR:3238986 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c2cbab63-874f-4348-8eee-2c1516908d6b CLINVAR:3238987 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 324297a6-6cb2-4605-8d3c-65949fd3abe0 CLINVAR:3238987 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d8482ee5-f5d3-43e0-9d2a-90b78d1911c9 CLINVAR:129144 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d4a3184-3d7e-4381-87f2-de5da64d4f45 CLINVAR:129144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96e6bee8-c66d-4d68-b906-ee5d0f97e49d CLINVAR:4814054 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 239eeba0-e18b-476b-aac8-d411e3f76e8c CLINVAR:4814054 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ed0ddc14-63b1-47a7-a33b-6c8aef23e823 CLINVAR:4531183 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 387a75e7-fe4b-40e1-974b-24d10a570996 CLINVAR:4531183 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a2bbe5c6-52df-4510-acea-2cb9c130946d CLINVAR:265174 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cbebf2bc-d086-47d5-85a0-e69a7dd27318 CLINVAR:265174 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d0cf235-3730-44e4-acd9-7e8f779e9fec CLINVAR:4814053 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar acce7584-d6f0-4900-bdde-462e8520f8f8 CLINVAR:4814053 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b7bcf88d-555e-4625-a913-aecc1b1f26ae CLINVAR:36227 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7049c20-c225-4d63-b437-c7c0e54b0bc5 CLINVAR:36227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ea4acc20-078b-4809-aa08-26ee79dbbffb CLINVAR:3383919 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91abfbf9-9fa8-4475-85d0-2f53a2a3027a CLINVAR:3383919 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ecea9459-571b-4c55-9397-46bf2879d457 CLINVAR:1746350 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f2b5e6c-f495-43c2-a942-73b8f41a89d0 CLINVAR:1746350 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 433ed6f2-fb25-456b-8bfb-b9f168421e87 CLINVAR:3024423 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab889977-a1e1-4e0d-849e-bdcea8d66871 CLINVAR:3024423 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7eabe462-0c95-469e-8d48-13d885b9d095 CLINVAR:129143 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1aaa5eec-7fab-4466-9e71-202768f959f1 CLINVAR:129143 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 947f13fb-05ba-43ca-afba-9bf4a69ffdb2 CLINVAR:2691829 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 977f6051-3145-4209-b8fa-81f029e1d87a CLINVAR:2691829 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d00696f-0d1d-4df5-94b2-3f50e4e3dac2 CLINVAR:2503894 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a9515a2-0c61-4790-a441-751155d44ba4 CLINVAR:2503894 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fbabeaad-d8ff-411a-b6ff-875c47d55fdf CLINVAR:1490297 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63a2c002-06f0-4808-9019-6537d4f65ca0 CLINVAR:1490297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29f0d484-532f-4fd9-9164-f1aea6811829 CLINVAR:2682649 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 308f5384-74df-429a-9946-aa156af39c30 CLINVAR:2682649 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e47675e2-5b0d-431e-bb63-91284e1e0086 CLINVAR:2574157 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c742df8-94aa-4363-a871-90a0e1206086 CLINVAR:2574157 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7753911-f153-4bc7-a1fd-56f5e2710049 CLINVAR:2574158 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6fb98074-d988-4765-93e9-d306e5935ba2 CLINVAR:2574158 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 876d9bb4-4486-4b1f-ae07-84277ecf6be7 CLINVAR:36224 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0b97400-8a45-40e9-b974-e6dd35d9c5f3 CLINVAR:36224 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f9f1b69-56c9-491d-b999-70e7af2f9e25 CLINVAR:4687871 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38b9bb17-6c35-4b2c-b4b9-91a508ae24a8 CLINVAR:4687871 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1f38d9f0-b2bf-451f-925a-7bab8a5dbf84 CLINVAR:4687870 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3d97439-9e57-48e6-bf5a-07d760b4ac17 CLINVAR:4687870 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fcc22668-48e3-47ed-b2af-ba341301579d CLINVAR:1743101 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ac0690a-1e65-4bba-844d-8ec0658aa9d8 CLINVAR:1743101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8905cd3c-d7c8-45c3-8c6c-7d1d744c3921 CLINVAR:447404 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45c71eae-78f1-4373-9a78-91d9cebc7409 CLINVAR:447404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be9f7ab8-2ccf-4e8b-b581-b2b3558d5e86 CLINVAR:447402 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37d8f850-4363-49ba-b059-f35fec72dc83 CLINVAR:447402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d484d60b-9851-4272-a739-9170bb2ff892 CLINVAR:585921 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b78d213-3afe-49b1-9ad2-3d533a3d46d5 CLINVAR:585921 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4b6c7418-9910-4b3c-82cc-6e4e0885fa79 CLINVAR:2628364 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c30b7a8-c4df-478a-9bb1-ce0b5b429403 CLINVAR:2628364 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b4e25abf-036b-4c35-a916-d84b766ebc26 CLINVAR:447401 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2bea6ee2-3e1a-4f1a-b9dd-1a8d76e5b467 CLINVAR:447401 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d047cb86-dc84-4023-9a74-db2615b286f7 CLINVAR:2682650 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a1a21bb-c73e-4fc5-ae13-e0ae3cffaa2a CLINVAR:2682650 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8832737b-c20c-42f1-8393-73ae1d825d9d CLINVAR:2567920 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d69b39bb-2a3d-4c46-8c96-2a5a2dd8545b CLINVAR:2567920 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aa9d4bc0-7813-4aaf-b9f4-84441e0f88f1 CLINVAR:36221 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b0433fe-1d6d-4cc1-9487-5250414ddb77 CLINVAR:36221 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bf616c19-ce59-41c6-8f9e-9055a80e9f5f CLINVAR:1741488 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0609ed3-102a-4df3-b7c2-80982f4196ae CLINVAR:1741488 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39059721-1ae2-414f-a294-588d26ccab5d CLINVAR:3602117 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e267b89d-e5fc-49ad-953d-6e61b20fb3c2 CLINVAR:3602117 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29d930b0-913a-42e0-8ffe-528df520209c CLINVAR:995370 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 128ee0dd-d033-4c4c-af2f-8e3a5dfe9460 CLINVAR:995370 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8579db3b-61ea-4df2-96b3-f579d00b935d CLINVAR:3233993 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 429d3f23-67ed-4e56-ba71-0e879648cb98 CLINVAR:3233993 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c20b3f63-b305-494b-9354-a07bc6afc8ac CLINVAR:3024424 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52451329-684a-419a-87e0-6f399cacf034 CLINVAR:3024424 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6685cfaf-c651-4ad9-814a-cf3774bfda19 CLINVAR:3068510 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 248845a5-9ee2-4579-8e2e-74d6676f2ba5 CLINVAR:3068510 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e0822bea-a96b-4f24-854f-f8184ea4abe6 CLINVAR:36218 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 882a70fd-e3ed-4e7b-a7b0-d1cae7bd182a CLINVAR:36218 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bcad0d77-8e8b-493e-bf1b-a22ec0dd1be3 CLINVAR:129142 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09c82a61-15f6-47eb-9836-defa2fd3d944 CLINVAR:129142 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d118a98-f04f-42c7-8717-e8d8ea833557 CLINVAR:2578355 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f228d98e-2bc5-4766-988a-1d6f7594f995 CLINVAR:2578355 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0865c13f-5572-4598-8e75-c01cd70a6aad CLINVAR:2428681 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b69420b-93ba-485a-8108-d0a3275cf454 CLINVAR:2428681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dcf095b4-c2ef-401b-93ea-6a23beb1d7ed CLINVAR:3383927 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf36b1bb-2ad8-4a7a-abff-334dca060bc9 CLINVAR:3383927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ab3282c-5543-4af6-86af-98c0e39f9cad CLINVAR:2136527 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f25b8ce-0f34-436b-bf5f-a03bfb4cd671 CLINVAR:2136527 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 05909697-e823-45d8-abaf-8bc235ed2b77 CLINVAR:3893273 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e92b26aa-a890-42bf-b0df-80b4584aa9ef CLINVAR:3893273 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 44907012-9827-4b7d-ba35-c5c6e97f5f94 CLINVAR:1704126 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3fe07644-7662-42e5-bcf0-9bd7f7be77da CLINVAR:1704126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 830c630d-a7a4-4c05-8ee1-14df42ef5b5a CLINVAR:3024422 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 908608b9-70fe-4dbf-abec-eb307ad4746f CLINVAR:3024422 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f6555db6-c088-44f8-8aed-df501f2f6eb7 CLINVAR:447397 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9734691c-468a-4ded-85bb-a059a8db01ef CLINVAR:447397 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7fb543f6-bf83-49de-8ecc-88d46f9542d0 CLINVAR:211073 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 632f716d-103c-4d9b-9640-29714a8a65d2 CLINVAR:211073 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fa62ca3-2e03-4377-abdf-53575ce5f2b4 CLINVAR:2735019 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5912abbb-2e3f-47e1-b1d7-108100805223 CLINVAR:2735019 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 95c30d25-307a-4e80-9c13-1cad8bf114fd CLINVAR:3338654 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a236872-79ac-45d7-820d-737dec214bd4 CLINVAR:3338654 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 04f81ef4-0e51-4bf7-aeee-9035270a0e9d CLINVAR:585919 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8cdd8381-1281-476c-888d-6a850787b84d CLINVAR:585919 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4b4e53ba-ba87-47fe-924a-bc446ce9994f CLINVAR:435307 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ea7f045-0f05-4bb2-adf2-49283f40f493 CLINVAR:435307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0a8a1bf0-5810-4bfe-9020-c85198e5a1a0 CLINVAR:3256954 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6acb4772-0bb9-45cc-bad8-4896da1d4988 CLINVAR:3256954 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27367869-3de6-454c-89c4-ba1bd280461b CLINVAR:2505487 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a959b65e-b951-42e6-8d50-7ab688e7bae4 CLINVAR:2505487 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1705b8a-677f-4603-ba69-6686206b0e61 CLINVAR:3068513 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7c1da3d-0434-4245-9d48-6e602572d68b CLINVAR:3068513 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c98a098e-5ecb-449c-8eef-07eb38abc2ff CLINVAR:2662928 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40ad0043-8921-4fa3-8514-806a0f5166d4 CLINVAR:2662928 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 33c5961f-4dee-4677-ac6a-f0dd823eed13 CLINVAR:1496579 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 914ba483-ce38-4ef9-9459-0b30fe43001f CLINVAR:1496579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a5135bb0-bc9b-426f-9076-30a13cf7d791 CLINVAR:2682653 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60799e19-6889-418b-9420-813fed2ec88d CLINVAR:2682653 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a78ea5e4-5c4d-4866-99b8-5e796ec7c106 CLINVAR:585918 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8bb82a5f-6433-44e3-8b09-a3d235522357 CLINVAR:585918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e6f576d-b0a9-4618-801a-6cdef97606f7 CLINVAR:36211 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b96f6a1-f284-469c-998c-7e2bc8eb01b7 CLINVAR:36211 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 40421ab7-5644-457e-add4-b5322977946b CLINVAR:3029101 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6407242-c730-41e1-b079-733369c9ffab CLINVAR:3029101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56ede15c-18a2-4921-ae7d-23451a9b7c9c CLINVAR:3383930 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bc7ed15-7688-4595-be87-a5a95372dedf CLINVAR:3383930 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dba7af7e-3d30-4e18-83eb-f9c5a2741d36 CLINVAR:3383931 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1993aa4a-2815-4df0-be49-487acc2e0485 CLINVAR:3383931 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4bff8a80-1182-4108-acd9-3df90c74e7bb CLINVAR:2500039 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f7d3094-cb5c-4011-b70e-c74164980562 CLINVAR:2500039 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fca81eed-e3af-4afd-a0bd-2e67451babf1 CLINVAR:3383929 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bd69639-a523-4087-99fe-9c826ab690ae CLINVAR:3383929 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2561c2e3-4c71-4bc7-bff8-047cbabd5818 CLINVAR:3383928 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cdc7d22-9b55-4603-a6ee-bfe1468a721a CLINVAR:3383928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 062b1519-bb26-4cfb-9f07-e8ca4d70c974 CLINVAR:995367 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cb783e4-c86f-4f74-a9d7-308db4b51aa9 CLINVAR:995367 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ccc6f2f8-f1be-476c-8f68-754674a098cf CLINVAR:36209 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb008f8a-0ed5-4607-b42b-1bd0ae41bedc CLINVAR:36209 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 787eae0b-29c6-4e96-b688-cedfba415e80 CLINVAR:585917 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba36f9c3-25d3-4c8e-a4bc-e3ad38762376 CLINVAR:585917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7649844d-7178-452c-be64-dad9cf64c6e9 CLINVAR:419624 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b3b4539-c1e0-4539-9863-0f76383c4d1d CLINVAR:419624 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a7eaf37-f787-4afd-b83e-5de5779832a4 CLINVAR:1343440 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 870f2347-83b5-4e1e-a452-9c00474836c9 CLINVAR:1343440 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0509c657-3f03-43a7-9101-e4e678e1a500 CLINVAR:377026 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e15117eb-fd30-4f40-b25f-20a213104bfc CLINVAR:377026 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f1b5c6e8-c8a6-4136-9d0f-261551b28ead CLINVAR:418225 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 457800b1-8de5-4e6c-bfa2-1b3e4d9e9bd9 CLINVAR:418225 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff9b7ebf-073e-4bcf-8b15-33fc61a70c7f CLINVAR:3767143 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fa4b185-01f6-4b6e-9ea8-58c96d5dece1 CLINVAR:3767143 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b2ed4390-ac63-44dd-862e-0c4ae2105cd7 CLINVAR:3720746 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 090fd39d-0538-4d52-8022-966710805334 CLINVAR:3720746 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4e8a877f-f518-487b-b320-8fd70062292d CLINVAR:2684202 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb689490-6365-4410-96dd-a6c5e3110823 CLINVAR:2684202 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 07951c84-1c6d-4632-baaf-ce85844f9117 CLINVAR:1807279 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e1ded95-eb38-4250-8cf0-ca6a71759405 CLINVAR:1807279 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cfcca799-7838-4098-ba45-c2548b518635 CLINVAR:3383913 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63c85d2d-b4c8-4745-acaa-52428ebf3a19 CLINVAR:3383913 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2473b9f0-7cf7-4010-9b7a-234f1757a342 CLINVAR:36204 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 430ab74d-1b15-4dfe-a01f-fb45de1fc195 CLINVAR:36204 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ecf71152-9f1c-4795-9977-12db5825c405 CLINVAR:393453 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2014125e-e906-4c65-bd23-2cc7a3e1231e CLINVAR:393453 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af4e8ea9-ddbc-4a3d-9b6c-946028a13074 CLINVAR:585911 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13bb8c4d-2739-4281-95b0-e2063576cf45 CLINVAR:585911 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 498adbe4-beb8-475d-b4f6-0505d3db1fc4 CLINVAR:195024 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 763aab26-cd79-47d9-a871-5ebad5878dc9 CLINVAR:195024 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 811329ba-4640-427e-83b2-078dc02cec9b CLINVAR:2691828 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94723008-3466-4684-a391-e421f6a19450 CLINVAR:2691828 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 00fb6c4e-0850-4c7f-b8be-4d402740ad86 CLINVAR:420070 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83a35b83-a70d-4090-97e3-29084e642055 CLINVAR:420070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8a1f52d-b04f-45df-b7a4-a47c085c4222 CLINVAR:2578357 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e03ec49-fe99-457e-b16c-16bd28fc0a1b CLINVAR:2578357 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3a0a6a9-ef06-461c-9703-f2e99c394ccf CLINVAR:2682651 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9315771d-0208-4984-84fc-ca5c0991d9c2 CLINVAR:2682651 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fd93c124-7715-41f2-b953-d4e8df411408 CLINVAR:2664358 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fabf55d8-4149-4a23-8dc0-d5b6bf21f03e CLINVAR:2664358 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3f197565-e7d8-4ef9-a677-31f02457072d CLINVAR:431973 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0003b6b1-67f4-4a77-9450-6297b50db395 CLINVAR:431973 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d2ab4a6-abf5-4abc-93d0-871f88633d28 CLINVAR:585930 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aba6a37a-8e5e-4d04-aeba-65f49a87fb99 CLINVAR:585930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 93457344-793a-4569-9f50-ce04158d70d2 CLINVAR:235097 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00f2b2e5-a81c-4a83-ae78-8d1ac8da5df4 CLINVAR:235097 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dfcda480-a98f-4572-aea9-e9411324bc7e CLINVAR:2136531 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a21c6c1c-770a-408a-b21f-961cb64107a5 CLINVAR:2136531 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f343618-042f-42db-8435-da0fbc47e7bc CLINVAR:3393499 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86e2551c-e842-4ea6-a39f-20eb7f06fa32 CLINVAR:3393499 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6880416e-e888-4548-ba18-4e3f1ce978b3 CLINVAR:2136532 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b52648a-ceec-4071-bd5b-9d3e8639fecb CLINVAR:2136532 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fb4c6303-0618-47be-a5ef-02c8632cc37b CLINVAR:3393498 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d24b45c-f21c-4442-92a7-02a8a3e1f1f8 CLINVAR:3393498 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8286122-2f97-4f33-9662-cd36e8da3a41 CLINVAR:447400 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a82fde46-0427-4bae-aa4b-b030e3ac94ff CLINVAR:447400 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0900d0ad-08f3-4ad7-967f-f4b01b176331 CLINVAR:2635153 biolink:is_sequence_variant_of NCBIGene:2645 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67e068c0-d370-4d40-8dd4-b9732dc5bc00 CLINVAR:2635153 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2649383b-9d68-4477-a44b-594ee37d5143 CLINVAR:43555 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 667d6619-0ac9-42a9-92a6-2973374ae43f CLINVAR:43555 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a0d78c0-0878-4d14-a170-954dd4d25e09 CLINVAR:189148 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afb22095-d4f5-4c28-a371-33af36492849 CLINVAR:189148 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f52e6aa8-d8a4-45d5-9d70-971db04477d9 CLINVAR:4835 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cbc3cac-80e6-4baf-bc7d-27f51872723d CLINVAR:4835 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6ac2afa-bf71-4150-a03e-3a9f92c483e3 CLINVAR:188878 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4005e7d0-a15c-4b91-a5e7-16023ceb2304 CLINVAR:188878 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ea428770-458b-4d54-9309-01aa9f91c65d CLINVAR:43565 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b7068a0-96bb-41ec-9efb-bf326915fe5e CLINVAR:43565 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdea26fd-761a-4c57-ade3-1d5162636e7c CLINVAR:43568 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d21f6f53-88de-454f-a17b-62e5f3ab1c9c CLINVAR:43568 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b7dd8e3d-a7d3-4450-aa6e-b3f0ec0df289 CLINVAR:4840 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80830d50-489b-439c-bd6e-66b6d381709e CLINVAR:4840 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aea97255-e43a-4194-992a-33451946c534 CLINVAR:4842 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a60a15a2-2e87-4f0a-af53-78eba92b9c45 CLINVAR:4842 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1f7a84d6-3fba-4241-b4d4-f203df785491 CLINVAR:43495 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 966033a2-c2dc-4a47-bcaf-1a7ea199426c CLINVAR:43495 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd9773bd-ec88-4ecb-858c-c5b127523682 CLINVAR:43498 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2cf857b5-f1eb-4f48-ae9f-40cc4097d7c7 CLINVAR:43498 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0e0877b2-daf7-409d-ac5e-3ca1e712ef15 CLINVAR:43519 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bf6f901-88f1-43d3-a3c9-6f289e686243 CLINVAR:43519 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 28c1cdb9-e6c5-42b0-add3-67174e90e981 CLINVAR:43521 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eda70210-ad91-417e-9a57-0c85250c0624 CLINVAR:43521 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel edf986bf-784d-4119-b4c3-36f9d554dd7b CLINVAR:43528 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27779434-7c24-4484-a4b2-8e8ad9cbb7e5 CLINVAR:43528 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2df7653b-1c6d-4118-8248-bc7751ae1938 CLINVAR:43541 biolink:is_sequence_variant_of NCBIGene:5172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79e154ad-035e-4b14-b97a-3b2c01ec5381 CLINVAR:43541 biolink:is_sequence_variant_of NCBIGene:123956210 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f6317b6-c2d5-442a-96c6-c6945a704a2d CLINVAR:43541 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d261861b-66a9-4735-b356-478abed5507c CLINVAR:53158 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 119df2a7-04ca-400c-9a68-d989b22e69bf CLINVAR:53158 biolink:is_sequence_variant_of NCBIGene:111674463 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42c7f714-0a6c-435e-aace-0c46a15bca7a CLINVAR:53158 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b047f1b8-c6d9-42f9-a9ff-b5d89ea1110b CLINVAR:53423 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2139a2c9-0b66-4e19-b12f-0e1e2ff4adac CLINVAR:53423 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78e06107-39a5-4203-86d2-e393c34b7c38 CLINVAR:53980 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cf7b436-4f42-41c2-bace-8526f93a3c4c CLINVAR:53980 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bddc81c0-ffa9-44f0-a0d6-9bb117298cee CLINVAR:53211 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3021594-7f6d-4f5a-abc0-f61db9b83808 CLINVAR:53211 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef0e1218-b87b-41b8-98ef-31c0ab1398da CLINVAR:53845 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47bba18c-cdb4-4a23-b949-964db39c212d CLINVAR:53845 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc45ad12-ea6f-4b3d-bb9b-73c27f996df6 CLINVAR:53984 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d087bd32-533a-4713-84d5-d49389529217 CLINVAR:53984 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cecc3497-c308-420f-add0-df03cba684d4 CLINVAR:634833 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 277a9b51-e7a9-47f6-b1f5-945585435531 CLINVAR:634833 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 033db7ed-2dc3-41e0-8ef6-fe23f87b67e5 CLINVAR:53988 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a541e05-0b99-46ed-b53a-dc121e4f313b CLINVAR:53988 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e84e000-45f2-459e-87ca-7c2efcc2bea3 CLINVAR:53998 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a788476-72f4-4b15-be89-472035eeb951 CLINVAR:53998 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cda117db-d88e-4a92-89d2-3e8fe7e2a38c CLINVAR:487391 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd45aa20-46fc-40cb-bd95-38ef990b5803 CLINVAR:487391 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1df93b0-4092-4260-85b7-dbea0beae303 CLINVAR:54059 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da34a876-24ca-43f4-b885-0699d80fd91c CLINVAR:54059 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel adde9811-a02c-4dfd-a4ef-cef6598261be CLINVAR:54061 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b740cfb-4749-4354-9462-7bc4cf0c7e7b CLINVAR:54061 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f879ea7f-45de-4e93-9b32-c4c5ec4704ab CLINVAR:54081 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06f57f6c-0c03-40b5-846d-8f5454b983a0 CLINVAR:54081 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d050c809-5c32-4675-9e2a-dfd45b26c8df CLINVAR:53204 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34071ffc-94de-42ab-8a31-71f464d4bf32 CLINVAR:53204 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07c7e696-2d1f-4440-9e1d-03976a12f3a2 CLINVAR:53238 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f70bcd8b-ce47-486e-88bc-0bb7860f59ca CLINVAR:53238 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2df9eb9-d101-4423-80a3-63a02de2ac3f CLINVAR:53303 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 041299d8-385d-4d6b-80f2-fd5fe0da9e61 CLINVAR:53303 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 80deba85-3913-4e48-bffe-17d3cdb52a68 CLINVAR:53305 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1fc40562-2f34-4926-9432-5bb51abbc80b CLINVAR:53305 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fcaba538-2a64-452b-9c7f-f7ebb8e20f2b CLINVAR:53306 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11eab6ba-6131-4b3b-89c0-a1c467e5d4ad CLINVAR:53306 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a586f18a-7454-4f77-aad8-e11730088044 CLINVAR:53308 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20747bb0-0e6f-4b62-90f4-5607d96d912d CLINVAR:53308 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3052feb-554d-4f2c-8147-5cacb3802846 CLINVAR:53314 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fd9ae75-26c9-4069-862e-9c2abb5e7eb4 CLINVAR:53314 biolink:is_sequence_variant_of NCBIGene:113664106 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f49f6948-1fdd-45dd-bb17-405650b4ae1e CLINVAR:53314 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c16a181-ac48-43a1-bb3d-91d64998e3e0 CLINVAR:53325 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49a85663-1665-402f-84dc-a7ff35899145 CLINVAR:53325 biolink:is_sequence_variant_of NCBIGene:113664106 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2037608d-bd46-4870-8e36-ead0273d5abd CLINVAR:53325 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44df4521-cf59-4124-b88e-5a4ce59e6458 CLINVAR:53343 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bdf0748-6a55-4416-aae4-a48aaeb52899 CLINVAR:53343 biolink:is_sequence_variant_of NCBIGene:113664106 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ce18253-c9e3-4dcd-ac57-00b79c1ed659 CLINVAR:53343 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8646ac37-1108-4c12-b8db-444a79c88cd2 CLINVAR:53347 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7a05d1f-b555-4712-816c-0eee1bdfee89 CLINVAR:53347 biolink:is_sequence_variant_of NCBIGene:113664106 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d81d454f-31ab-4836-ac19-95706aed9569 CLINVAR:53347 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f3482ff-f941-45ef-b3bd-ffd73f9ed00e CLINVAR:53355 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2712b7c-712b-4da1-a632-30e21d5aa105 CLINVAR:53355 biolink:is_sequence_variant_of NCBIGene:113664106 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3f15b9f-a457-43ab-a8f0-0c526725bd89 CLINVAR:53355 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 661e4bd0-c75e-4487-8f48-3cef80c76a29 CLINVAR:7179 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae27550e-586f-40d8-a843-903dfe833388 CLINVAR:7179 biolink:is_sequence_variant_of NCBIGene:113664106 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1320d688-30f0-425a-b218-0828c948de5f CLINVAR:7179 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a45f027-7769-430a-97bf-d1cd93e0ef71 CLINVAR:53373 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eaacc180-031f-4ccb-a024-f820057cf735 CLINVAR:53373 biolink:is_sequence_variant_of NCBIGene:113664106 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8aab89dc-0429-46b5-9528-64ea261b34a6 CLINVAR:53373 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f5b2f69-7d67-42d3-bd18-0c842cdff4a6 CLINVAR:487400 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 177069b4-f4bd-4cba-95d3-634e495c08a5 CLINVAR:487400 biolink:is_sequence_variant_of NCBIGene:113664106 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7243ec3a-e918-4d3a-9e58-49cd9ea9e5b0 CLINVAR:487400 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b67702ba-5a4f-49f0-b23b-86ad84bb5c43 CLINVAR:53386 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aee9e9df-7802-47b4-9863-a6bda57b8c22 CLINVAR:53386 biolink:is_sequence_variant_of NCBIGene:113664106 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd2c17f1-ae8c-467c-81ac-a871dcfdafb9 CLINVAR:53386 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75c0187a-271d-4bef-8ed8-c6cfbfe4bc47 CLINVAR:38730 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae99e1b0-babc-4e38-99d4-4fc44119916e CLINVAR:38730 biolink:is_sequence_variant_of NCBIGene:113664106 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2167ab2-9218-4d45-9652-56530e3f09fb CLINVAR:38730 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16d0c99c-a185-4ce1-a175-5e9bcde86a37 CLINVAR:53425 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afafec08-d9b4-4088-b1ac-69069a1a786e CLINVAR:53425 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac23b068-9c98-4f2c-94c4-2b364c5cbb16 CLINVAR:48672 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c66f9b48-56ba-4e5f-98c0-c14983d515cd CLINVAR:48672 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be9e6d0c-b653-4bc8-b4d9-6bdd87de99e1 CLINVAR:53475 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8c26337-f34a-4747-bb15-5cc36df8fc65 CLINVAR:53475 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e72c3126-f1d4-4d1a-afee-60f37b34fcb6 CLINVAR:7143 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c45c8a6-2d8d-4e6f-a413-5ffbd4cd3c02 CLINVAR:7143 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 86affd07-1277-4c9b-ac7a-60b0a54e9a9c CLINVAR:7232 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cd3d878-5fdb-4886-9a98-903218f9dd46 CLINVAR:7232 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9cfd73dd-2134-43e2-a051-61cc0802663c CLINVAR:53532 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a819b0b-e299-471d-924f-756a406300bd CLINVAR:53532 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6b7bc83-16f7-4a9e-b892-27b2d7d0cae2 CLINVAR:53534 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84525ef1-99c7-4c75-b0c9-19963a5cc36c CLINVAR:53534 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fcc1dec8-221d-4d9d-9c30-60f30a9eef2d CLINVAR:7183 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cde768e0-7653-4152-92a4-dc97f33424d2 CLINVAR:7183 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 101dd0ba-ed83-4932-8b17-d6118119378e CLINVAR:53549 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7aa76d5-e748-48a8-8240-17aa6e2caddd CLINVAR:53549 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1dc16bc2-5702-4efd-8745-c36940df3c27 CLINVAR:35846 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eee00609-7386-4a17-ac11-90060854cc80 CLINVAR:35846 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f6d181a-797a-4e4f-915f-dfd57221c149 CLINVAR:53556 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad687351-7d86-46c0-9ec0-1292141ab6b3 CLINVAR:53556 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e26121f6-8eda-4b8b-a77c-e4cc5b9c849c CLINVAR:48680 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 889a8e97-c85f-4be7-95cf-3f0b43fb2e1a CLINVAR:48680 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 84ca2a51-91de-459e-b160-5faa9bdb4e31 CLINVAR:7181 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f3471aa-255a-4518-b9f0-fcacc3df2fd2 CLINVAR:7181 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48ad8bb2-799e-4a08-a3f0-89b1ee3a1605 CLINVAR:7186 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b83e75a8-3cb0-4dd5-aa80-1f6fba53219f CLINVAR:7186 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c128245e-f2aa-46a4-b8a9-dc6c3176abc5 CLINVAR:53600 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ddee5ca-b288-4cb0-931b-1a18d58d98ab CLINVAR:53600 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87705ae7-00c9-420a-97ef-5d14a54bd435 CLINVAR:53606 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4025b530-b10a-4edb-a915-a1964c40f033 CLINVAR:53606 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c8990384-8842-4207-906e-81948d14b62f CLINVAR:53610 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac411d51-1de2-4d04-beed-8723533810d3 CLINVAR:53610 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 480005ca-7680-4fe0-aec3-730b7353575a CLINVAR:554293 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f73d6078-918b-4df7-a7b8-fb47de065216 CLINVAR:554293 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2467ec31-1e4e-4f79-8a9a-5cdff99c70a3 CLINVAR:53653 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c66ab8c-264e-4caf-99c2-15eb0039abb3 CLINVAR:53653 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7af8abbd-c745-4d1b-a1c5-7249337280e6 CLINVAR:48684 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c1397ec-d33d-46ad-8c25-3e2043bcc329 CLINVAR:48684 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2cd48cee-6c01-4aa1-b435-e58e5b05f7c5 CLINVAR:53696 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aebde845-b2ea-4994-b689-252a28e97394 CLINVAR:53696 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a5fdffb-1d1d-4667-9d93-899cb36eb679 CLINVAR:7108 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e72b7fa-88c4-4e22-893b-edc1f70389ce CLINVAR:7108 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe4aca83-ce2d-4a74-80bd-077a7f7eb75b CLINVAR:53754 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dab02491-c3a4-4bbe-bdea-4a83e426c72e CLINVAR:53754 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 722eef34-c21f-43e9-b356-9adff24e8a38 CLINVAR:48688 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a9ae79e-65d0-4507-8d2a-fb94fd64644f CLINVAR:48688 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f245f10-e241-4ed1-8a87-dc2729e29383 CLINVAR:7109 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 514d2a41-2e6e-4844-8016-2f62636cdf57 CLINVAR:7109 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline fa4edc03-dff8-47d8-a153-59c23c9e5351 CLINVAR:53764 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a8e2e67-cda1-425a-a559-da2b742c8005 CLINVAR:53764 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 483b8625-f321-4c00-82f1-409f9d3be6bb CLINVAR:38833 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c13a283-41bf-4e69-bf9c-b6e8cd3080e3 CLINVAR:38833 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b146377-b31f-4178-ba61-a9c8bd8b5ec6 CLINVAR:53812 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce8e7c0f-4384-4196-91af-252bc2102f0b CLINVAR:53812 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de63ed57-8874-4890-b7e2-2250c34ea22c CLINVAR:53887 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 915a77b6-94ca-46be-8e77-104c197653ba CLINVAR:53887 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7cc289d5-106c-4dc4-b3b6-a9aedbc81e9c CLINVAR:53905 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46ab289b-b4cf-45aa-8f62-8269cb68daa5 CLINVAR:53905 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b09ea10-ea61-48de-88f4-34f615d7fa8b CLINVAR:53909 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d149037-8d6d-4423-80cc-3b94dc283049 CLINVAR:53909 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ae079c9-5001-4686-935b-a2278c8e611b CLINVAR:7146 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b20beaf6-9328-45ea-a994-59ca42046df0 CLINVAR:7146 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3bfce41a-c6b1-4ada-962e-266e361219ef CLINVAR:7147 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47166f82-4ea4-4dec-b523-3891281f8a7a CLINVAR:7147 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5df720cf-2e25-4c32-b6ce-6864ad1d6cb6 CLINVAR:53948 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6b6b98d-be71-4c7c-8bad-2c548f1f9181 CLINVAR:53948 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f7f83a4-3d11-4f60-ba2a-6312456e4f44 CLINVAR:487384 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b93c225f-d11e-48aa-a963-5fa1752e4af4 CLINVAR:487384 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea056ff4-7ba2-4bb3-9e03-2508850fe389 CLINVAR:53965 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d11ada2c-4ba9-4019-bd5e-3f78fa85c0eb CLINVAR:53965 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2831b9b6-e76f-44b3-a75b-fa0deeadd2da CLINVAR:38799 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd17ac00-0bda-47f9-999f-1687686cd42d CLINVAR:38799 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 7f6d06ad-bcb0-4390-99dc-2c2155e04e5e CLINVAR:53976 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ceaa7a6-c613-442a-9f0a-07cd82a67b48 CLINVAR:53976 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29d82401-b151-4d22-aaca-9aef4d0680dd CLINVAR:53991 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e03a4e1-af06-4e21-89d1-229a9c13fd19 CLINVAR:53991 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c2257c3-ced5-45cc-b68d-d7af246c3807 CLINVAR:48692 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba55696c-8375-4fc8-9473-bc8925888bbe CLINVAR:48692 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c392171-0423-4488-85eb-a3d871d05841 CLINVAR:53996 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2af1e9de-d92e-4564-8b75-7b8ccad5e224 CLINVAR:53996 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 824b974e-a4cc-41d6-b3bf-c2065d56b6db CLINVAR:495953 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82a37b75-5870-4d86-bf5b-b3c5763c1f15 CLINVAR:495953 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76baee96-673e-4740-8c39-b229878f5791 CLINVAR:54005 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bfae41a-0835-4879-935c-2c26d6ffbc89 CLINVAR:54005 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4938eec2-9e74-4170-ad10-09d76a18b7c8 CLINVAR:54006 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61d4d377-6c2f-4506-bf4a-f7fb804f6185 CLINVAR:54006 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c11c5f55-fdc1-4c2d-99cb-d082e57e9f49 CLINVAR:54007 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4db5264-6e11-4772-90d9-368b4acc2e8e CLINVAR:54007 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 099ace95-3b47-49b9-a9c7-9d5e5f07048b CLINVAR:38494 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f937c114-6444-4bfa-9b09-c073d9e25016 CLINVAR:38494 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline a98b6872-baf0-4ec0-a93f-877993becd4e CLINVAR:54010 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb2e8160-e101-477a-9bdd-7c6f3db8b314 CLINVAR:54010 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75da02fe-21ed-4866-8a9f-f8db4ea7cf54 CLINVAR:54012 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f0a7dc9-eae5-475f-9387-ed0c19b2a913 CLINVAR:54012 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36cf73f9-e666-4f97-a483-433c42c17e5c CLINVAR:837464 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5e0b634-1cf4-4aa1-bf4f-333b2be9754e CLINVAR:837464 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 647a3779-7776-45af-b6ba-f9c320a18b10 CLINVAR:54014 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de449f05-8d9e-41fe-908e-786267ca66ba CLINVAR:54014 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c49f6b8a-16d3-4993-96a9-9cb64bec3c7f CLINVAR:1300164 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3937da3c-b710-487b-b930-3c4ee8c22b88 CLINVAR:1300164 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8693f901-2415-4af6-8119-f7f8de64f345 CLINVAR:54018 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e616f0b6-a5f2-4fdc-aba3-0f1b37fe1eaa CLINVAR:54018 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d3c40b2-9034-485b-85b5-091398e7add6 CLINVAR:54026 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eea69161-e90c-467a-86e6-2d264245481d CLINVAR:54026 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76437937-ae94-4bed-8ceb-564896a0ca14 CLINVAR:7190 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c402aaa0-6f6f-4199-94f8-60ae5c7bc733 CLINVAR:7190 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65abb461-c349-4d6d-a8a8-ba2d60496898 CLINVAR:54033 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0cc9cc6-2b5a-4e0b-9eda-f8fe205731a3 CLINVAR:54033 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d71ab3a5-a68f-4644-ac67-494db9677d3f CLINVAR:54035 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar deccf35f-3b14-4f0c-a441-155d912f0263 CLINVAR:54035 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12981527-c69f-42de-80fa-3060f78df3ee CLINVAR:54036 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5eeef5fa-dab4-4103-8443-50cd01812252 CLINVAR:54036 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ae6ad70-6084-4c1e-bfa0-5908a5375dfd CLINVAR:54040 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de9654bf-0d64-4911-b239-8affbf0e7332 CLINVAR:54040 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c8961ae5-de7e-49ef-ae5a-ac5e16924abb CLINVAR:54041 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f3d94b8-6812-4a98-bd2f-23e85022efba CLINVAR:54041 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fb2d73e-1597-4106-a1a5-db512ef1eb4f CLINVAR:487385 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06cc9ee4-f23e-4c05-8383-18ca11180d2c CLINVAR:487385 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1e994b7-313d-4871-a1b2-e6ef094f9189 CLINVAR:7145 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5323068a-530d-4778-9350-dba4dc100574 CLINVAR:7145 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f9b388f-b521-4f8f-aaff-e757447705fc CLINVAR:370635 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cd2e6d8-7b77-4cfb-bda6-17a5f0cc8cb0 CLINVAR:370635 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14dcd2bb-eef9-4f90-a595-2c53286c0f0e CLINVAR:1300163 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9929caaf-94c7-4fb4-8a28-2fa4d181b0df CLINVAR:1300163 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd6a9118-6312-4f11-a089-3e6387375e1e CLINVAR:48700 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47bd1c82-f273-4d7c-acc5-254cddcdff49 CLINVAR:48700 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 993ed0e6-53d9-43b3-9b51-8c4a972be1be CLINVAR:35890 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d754c9cb-0fef-432b-b1be-62674e14f80a CLINVAR:35890 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0147dba-c035-4ba9-b375-80f0e91a960e CLINVAR:54064 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c05a0fbb-244f-4e76-941e-f7926f84a197 CLINVAR:54064 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e3ea72e-9a82-46d8-b3c0-027faa44dd5a CLINVAR:189095 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df5d5061-1f79-4e7e-8cdf-9ee299382d4a CLINVAR:189095 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3bf5fd89-6c44-41bc-bb59-56e8e91c2081 CLINVAR:54072 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b3e21e3-c06a-4bdf-8b5c-a0975806d532 CLINVAR:54072 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f73555c-0a52-4af4-adfa-e22932dd4e64 CLINVAR:7153 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e98b076c-beae-4177-bf0b-830ec77c436f CLINVAR:7153 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41ee8a24-c2c6-4513-adef-cddeac5fe32c CLINVAR:7163 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f173337-819b-4c38-9693-6647187588e7 CLINVAR:7163 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2b73c61-5a9f-47c7-a087-28ce0ebc5ae0 CLINVAR:54097 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar faa4576a-c5a9-4696-bb3b-88abd5287d20 CLINVAR:54097 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b3a8202-a91c-4846-a822-893df7a251f6 CLINVAR:48708 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e12db6d-aefe-4441-ad4f-41e49c8cb0d7 CLINVAR:48708 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5aa74ded-465e-4710-a0b3-b5ad7ca4ce43 CLINVAR:7139 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 259ee5b5-878c-4598-9cc5-b5d49f1c7e68 CLINVAR:7139 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline d7c693a8-f5a6-403e-ad21-a3e5a573e3e0 CLINVAR:53160 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f9e8b1e-51cf-4d43-a574-29390f4fd457 CLINVAR:53160 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc2f4d7d-4257-4a0b-a9fd-97767b7981ae CLINVAR:53161 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e1f37b4-0e95-4280-a225-2832ad6b37ed CLINVAR:53161 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3443736-61bc-435b-9bb3-f3bd2f001f1f CLINVAR:53162 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cfa01b5-a945-4597-a8f6-27eda82d099a CLINVAR:53162 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b23f0570-b69e-4d7d-8e22-99107b299258 CLINVAR:7193 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6b930a5-2fac-4782-95c8-cbdf2b7e5d02 CLINVAR:7193 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3dad2ca5-e55c-40ba-a4db-b0e3398dfb60 CLINVAR:7134 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 640bf9a1-452a-4cb0-a4fe-6a86ada28751 CLINVAR:7134 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d280b3c-743f-4716-8d3d-debb57448339 CLINVAR:53167 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac4f500f-ff0a-4d7c-875a-8b454c976402 CLINVAR:53167 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5eaf2cf7-b580-4930-b160-99f594b38262 CLINVAR:53170 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19b8dfd1-571c-44fd-a3c8-3587f8bbaf6b CLINVAR:53170 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb16a275-8bd3-4b3f-bdd2-93d906f63fc2 CLINVAR:53171 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6c47c0d-a8d6-47fa-a6ac-6aa0da5c8072 CLINVAR:53171 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6746a8cd-54c9-4330-9004-eaa83eb3ec10 CLINVAR:7182 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b24db161-d72f-479d-a26d-4740dc6f1c99 CLINVAR:7182 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9940f38-7458-45be-87ed-75a12e3f99f6 CLINVAR:7110 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 635df3d8-8a35-4b60-bc5a-7560b27f3759 CLINVAR:7110 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline be3a8a6a-221b-4b59-a905-301f058b2e52 CLINVAR:7198 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f885bba-c613-4c27-a5d9-4a636b83b1b0 CLINVAR:7198 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38ba9e6d-a201-499c-9a84-c026ae8841f3 CLINVAR:7135 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7b26e9f-461d-4789-b79e-1bea99d96471 CLINVAR:7135 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64c56bde-6f61-4de3-bf1c-8d074e007aed CLINVAR:53190 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f0bb76f-ebf3-429c-a121-2ad03775d6e6 CLINVAR:53190 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a79fd709-d3b0-4c29-a12d-5606538cbc0d CLINVAR:209059 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8822f543-851e-43e3-ac9c-4ecbf47ab199 CLINVAR:209059 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14620bfe-067b-4be1-9eee-f4f255b7398d CLINVAR:487392 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6eec7634-0a9f-40cf-a4b1-d3831dfde698 CLINVAR:487392 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 572887e1-b2e4-4b1c-a3b5-ea310392cf67 CLINVAR:53200 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82611d5e-4e88-4adf-8dc7-5d6c11dfbc37 CLINVAR:53200 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e74a245-b8d7-4c41-bd6b-a8914284ff1e CLINVAR:487393 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15152c3c-662c-4bf3-85db-12aff79cf477 CLINVAR:487393 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 121935fb-318b-4119-ab60-7681bc112428 CLINVAR:53212 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e47ce13b-7331-4ec4-9607-526c1aff0ea4 CLINVAR:53212 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 829a72b2-eb1f-4e62-bf46-f9cc6de59bd4 CLINVAR:53213 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55952343-7726-4855-8020-f1de9ebd0243 CLINVAR:53213 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2e7c661-9f5e-4660-b836-afbf8e1adc1e CLINVAR:53214 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1ca0b23-e69f-465e-9692-d56f1c3d3566 CLINVAR:53214 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 890651f7-38d1-4121-ae03-4100cfcd9abe CLINVAR:53218 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e304983c-8295-4d34-90f3-7c62a21498bc CLINVAR:53218 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d96252ef-78c9-425b-b127-5cf8ab26e8dc CLINVAR:53218 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23c63bbf-9c68-4256-8c31-e95b33847c87 CLINVAR:487376 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ebfa17c-4860-4053-8d98-267497716d35 CLINVAR:487376 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba2dcb17-7321-44ff-afde-322b10dc5c05 CLINVAR:487376 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e96d469-89cd-4830-b2b0-083e6e72b372 CLINVAR:53222 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76594845-2a60-4bfd-9e44-bf5753f2eacd CLINVAR:53222 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35c38a62-65da-43bc-92a6-00f03379b188 CLINVAR:53222 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f67782b-37ce-4699-a48f-94963ab7be36 CLINVAR:53225 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar effd57bb-64e5-4c67-968b-9e2ef0890f5c CLINVAR:53225 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03ad2a10-c73b-475e-9975-8c3f4d13b3ff CLINVAR:53225 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a3359996-393f-4a2b-873f-b73ecc5f19a8 CLINVAR:554406 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e410832-1001-4452-b458-2f0568eaa486 CLINVAR:554406 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d89c92bf-2459-4839-b18c-94ceba8651e9 CLINVAR:554406 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64988ccd-00cc-4de1-9838-20ff7e45b2f1 CLINVAR:188958 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6a21310-e2a9-44cd-abdc-00e5357f20d1 CLINVAR:188958 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bff22a4d-e665-486f-8a53-cd01d7fdf41c CLINVAR:188958 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57620256-0509-4e08-a7c9-873cf0dd1958 CLINVAR:53231 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b797bdcd-e5c1-4aa7-bc86-27625074a361 CLINVAR:53231 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3822f06-6473-4e06-853c-79f758e29eff CLINVAR:53231 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23892d3c-4f05-45e6-9540-7e38e4c651cf CLINVAR:53233 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5dc1356a-b0ea-4ac6-a2ef-91323320be55 CLINVAR:53233 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5e689c1-8498-41cb-aaf6-3ef2f0fa84c1 CLINVAR:53233 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22d8a9aa-6ba5-430c-91b3-d06a236ef47b CLINVAR:634834 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4511fe86-ca3b-4569-9c79-529e0c91c197 CLINVAR:634834 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f82635c3-7fea-44cc-8c6d-9eb37f752f7a CLINVAR:634834 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50a821c8-a615-4072-8f32-eff408662a0f CLINVAR:7111 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 626722ed-ece2-4cc6-a936-789e88e68d64 CLINVAR:7111 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4885731-e8c8-4946-9521-f058b61e07c6 CLINVAR:7111 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 55d2104c-a78b-4ff8-ae08-67994cfd163a CLINVAR:209061 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 224454f9-95dd-426c-adf4-a806932559ae CLINVAR:209061 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c596b904-aac4-43b4-a711-a5fe7ccc064d CLINVAR:209061 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aaedc49d-e5ab-4bcf-827e-b85d6b951616 CLINVAR:35821 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f517a2a4-74e2-441e-93c4-ccb930b083e8 CLINVAR:35821 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da19428c-6301-4b18-8a0e-7d0c4934bf8d CLINVAR:35821 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef64b9d0-5aa0-4811-860c-5386878f8ec6 CLINVAR:53237 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f97afdf-ab6c-4411-84ec-1de80fd9a707 CLINVAR:53237 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a852723d-a475-4b96-90b7-e065339bc9c2 CLINVAR:53237 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f6dc08a-e4c8-403d-a76e-edf9733261ee CLINVAR:53243 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21bee881-93c2-4abf-a0a6-9e808f38b3f1 CLINVAR:53243 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 161e7b67-8065-4c47-ad36-e51bcb6c9d32 CLINVAR:53243 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 559625a4-9646-49c2-a7fe-12f2a3ba058b CLINVAR:53242 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89d49ba9-f589-420d-b9d9-99200ab64777 CLINVAR:53242 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3f0089d-3fde-4d27-bec4-79c78416539a CLINVAR:53242 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e201a4d2-92cb-48c9-92d2-4e29e505e54a CLINVAR:53244 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92408120-93bd-479d-ad93-e687c3d7459f CLINVAR:53244 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9f70518-1449-417a-9da3-c6023b94b422 CLINVAR:53244 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28c6da02-43c3-483f-8763-925a3d59def4 CLINVAR:35822 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79c23538-4df7-4248-bcdb-9fc7a9ce9710 CLINVAR:35822 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 733f120a-2d47-46c8-b282-677b999fea58 CLINVAR:35822 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7c6b901-cc19-4f6c-a8c0-189e97cc2067 CLINVAR:35823 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9d39bc8-34bd-4dad-a6e1-d4d1158f267a CLINVAR:35823 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9fd84e6-3388-4e32-b1d2-8dc76e3cd539 CLINVAR:35823 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a03468bb-a158-4a86-afc8-d64844f0848f CLINVAR:53251 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51ae5352-495c-4d2c-ba95-df3fd4b9be30 CLINVAR:53251 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60c17252-0e6b-4f78-9374-521125ddb324 CLINVAR:53251 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43d3628d-4499-4d16-9013-3c022d211cc3 CLINVAR:634836 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57952799-dc97-4be6-a186-841d1d51ff26 CLINVAR:634836 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 059f9fcb-5c4f-45df-aa89-fbab193186cc CLINVAR:634836 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cee5adf1-037c-4be2-9b6f-fe1dcc0f3c8f CLINVAR:53259 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ebba16b-7596-47f1-aafc-19dcf4da1dd5 CLINVAR:53259 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d49485a7-af74-4323-b1ed-166c23c51908 CLINVAR:53259 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68bb3967-3502-4b10-b55d-29959df7af36 CLINVAR:7155 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 675223d6-306a-42d1-b149-e76959090dd8 CLINVAR:7155 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0872eb7-5894-4eec-bb1c-1c78fd84d17d CLINVAR:7155 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92c5a0a0-7294-4413-81c4-9a5b563af901 CLINVAR:7219 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56b549e7-8a66-4b55-836e-a0cc70a9f54b CLINVAR:7219 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96b0c4f0-6d88-4d8e-adae-8df0cfaabfb4 CLINVAR:7219 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45c40e52-1879-4cf7-a14c-31302977b1a3 CLINVAR:7107 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b39d77d8-1d19-4f06-8c2f-67bbabbd36ea CLINVAR:7107 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e60ed77c-8ef2-4a4e-a15f-fd9b78db7b56 CLINVAR:7107 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b3385a7-9af7-4ca1-832e-c52c12d6d85a CLINVAR:53265 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b4805ae-91d6-420c-9975-ff5a32066414 CLINVAR:53265 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a47e481d-e01f-4347-89a1-3fbb3a54108f CLINVAR:53265 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 759573bf-5d95-4a8f-a438-b939f26557a2 CLINVAR:53272 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9db1105-7b67-43ab-8f7c-e57b8d1b5062 CLINVAR:53272 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60282d42-4d57-48c4-8d13-f5b90f166ba8 CLINVAR:53272 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5dc8aec-9170-4954-94c7-9f0c90103de5 CLINVAR:7106 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f153f809-3ac3-4eb6-897e-ab7d034bfaa3 CLINVAR:7106 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82f12ee4-541d-4bba-b7ad-b6d15c413b6e CLINVAR:7106 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 350e0c08-4c44-4ca5-9faf-c05a529cb920 CLINVAR:7105 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 421a7241-fdc1-4c54-9953-5291e1ec61f7 CLINVAR:7105 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40aa2bbb-bcb5-4bc7-aa75-cafe0d49aab7 CLINVAR:7105 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 0dd20e89-37af-4985-a4b4-1ef9acf91948 CLINVAR:53280 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb03e4e4-965f-4d09-bfc5-b57e2962d73c CLINVAR:53280 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e14d3679-faa2-4432-a47c-d3218c121271 CLINVAR:53280 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3405eb6-e7a6-438d-b388-36f4fd833b3d CLINVAR:7140 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b64bba72-450e-4774-b184-91daec8f81a7 CLINVAR:7140 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09cc2049-49fb-479f-a903-b52be3d338a1 CLINVAR:7140 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1b2dec8-e26c-4e31-90ba-94ec60074748 CLINVAR:7150 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7dbedbad-98d8-4e8c-aca2-36b66a429e05 CLINVAR:7150 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2aee1dd9-3bed-4a5c-9462-7b88df6bc10d CLINVAR:7150 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92e8da65-0f97-452d-9fc2-c6832c8ce20b CLINVAR:7151 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6006ade8-5d3f-4c1c-b3a5-d00d72cb359b CLINVAR:7151 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee44ef43-ce2b-4e54-87b6-97c6d8c34e0c CLINVAR:7151 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2cf4c156-5e93-4e87-8f57-f98b6622c4d6 CLINVAR:53282 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51a7e176-4a07-44d7-a284-ad2571717e1f CLINVAR:53282 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4b0f543-4523-4fdf-bc49-25f677109bac CLINVAR:53282 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1144aab5-4de7-4db2-8ef8-cac3338e53b8 CLINVAR:53285 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7dc6445-d91c-44e0-a722-1738f4094ff7 CLINVAR:53285 biolink:is_sequence_variant_of NCBIGene:111082987 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95b2e580-24aa-4cf5-9428-2e07de65f525 CLINVAR:53285 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb3b0b72-470b-4045-913b-efbf20ea0139 CLINVAR:35828 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7bfda957-8811-4add-975e-6bfdf61caf50 CLINVAR:35828 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb6010a5-5ada-4402-89aa-648cab6daa7a CLINVAR:35828 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03c0a17c-2960-4c77-bb4c-1ed882f55926 CLINVAR:7112 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36a380f9-a027-49dd-8118-eb08ff6a30fe CLINVAR:7112 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb34dce3-3f13-4d8f-bd92-e1478ac5881e CLINVAR:7112 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 39651408-ac0a-4ec9-a6b6-bd140d0a2962 CLINVAR:7115 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d011861e-f23b-42af-b8bc-93175338f6f8 CLINVAR:7115 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04208f45-9b47-4970-8a25-2ee23ec8b261 CLINVAR:7115 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 1290213b-1cd4-4cc1-b7af-4b3a3a56fc8d CLINVAR:38733 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2001f3d3-cf45-484a-a1a7-6429c9764f49 CLINVAR:38733 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbfd537d-8379-49e3-8323-da169ccadc7e CLINVAR:38733 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7eefcd1f-660c-4ad5-8f88-fe67c2fa3033 CLINVAR:7116 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bdbf0c26-6973-49dc-b0c5-365598fa582f CLINVAR:7116 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bacb9c0e-6fbe-45d0-98e0-46975dcac9c3 CLINVAR:7116 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6634ff1-95d3-441e-a0fd-ea1185e81bf2 CLINVAR:487375 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1335ee13-faf7-4290-a93e-eb8502cbecb4 CLINVAR:487375 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08399da9-b42d-41d2-9ba1-cb32a1dbe215 CLINVAR:487375 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79cd46f0-2048-4f5f-b011-4a2b9e9356ec CLINVAR:40190 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a35e341-b8cf-40c2-9cd8-855e0fb634cc CLINVAR:40190 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b69502e-2e91-473c-aa96-c6298d8fbada CLINVAR:40190 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f984a24-35da-4fd8-bbbe-6e2fa7b79c9b CLINVAR:53312 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06215124-c9c2-4016-b814-bc32aae6a9fd CLINVAR:53312 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9a20db5-5a9f-461b-986c-eda7446b7f9e CLINVAR:53312 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c55fdcc4-b930-4829-aa89-61d9fef668bc CLINVAR:53319 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fba879c9-3c66-4c83-a20f-1451ca5c6820 CLINVAR:53319 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ace9686-ce21-4919-8e5a-4044337c5d1e CLINVAR:53319 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88d5b5d7-1ecc-4459-923f-a6fad991165d CLINVAR:7142 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8c077f9-8152-42ff-851c-c155be147893 CLINVAR:7142 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67666f39-6dd9-446c-8e22-a2b47a63782f CLINVAR:7142 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e564d14-dcf1-44da-9421-a8caca8e84b7 CLINVAR:7120 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a310a708-0efe-41a5-b453-6553b9bc97f1 CLINVAR:7120 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65ef83e5-d677-4ad4-9488-973559d2dcda CLINVAR:7120 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 88892d40-faf5-4bbf-a957-3ed13e020159 CLINVAR:7201 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 644cbbb8-24be-4859-bd0c-7d9b19fdf367 CLINVAR:7201 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93d9e4c0-f665-4247-b7d2-c1a7e4d958f9 CLINVAR:7201 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e5a7788-76b9-4ba2-ab57-a4fb4dd6ff55 CLINVAR:7122 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a674786-749f-48bf-97c3-6325588b827d CLINVAR:7122 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 960174bf-2b74-4ff2-a9ca-9284ca853e40 CLINVAR:7122 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 7a092c92-b96b-4e9a-9f3b-0a83a547ba88 CLINVAR:53326 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b0ef088-4e8c-4a67-a192-45185ce051eb CLINVAR:53326 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 361fee57-04f4-4518-bcaf-482b20cd4ab2 CLINVAR:53326 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d4b9e22-d30c-43f7-9efa-bb7979768d88 CLINVAR:35829 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adba91a2-ab3a-411d-9b9b-ca0c1b5613b4 CLINVAR:35829 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a7363ed-22a3-4e1c-a28d-4ac377d7c2e1 CLINVAR:35829 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09cc3226-3b37-466e-9636-c4fe15b4ab3a CLINVAR:7123 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23e58f7f-4d3f-4cb1-bf3b-d753c30d5ab8 CLINVAR:7123 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dbc9ec8-a3f6-4f09-9894-5d54ed08efd8 CLINVAR:7123 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6290abe-c4d5-44ee-9fec-e011f3129c33 CLINVAR:7156 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64467d0b-d8ce-4071-8e72-52681ef32f72 CLINVAR:7156 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61a08134-bacd-4ce2-b67a-52dd70cb5301 CLINVAR:7156 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91464e5d-532e-4b35-a4c6-2d20489f788f CLINVAR:7113 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38ed040a-d780-492d-9904-b68ced057ea6 CLINVAR:7113 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba93772d-4504-4b85-bc81-8f53472d237c CLINVAR:7113 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 1e3cb21b-721a-45e4-bd45-a1925045129f CLINVAR:286869 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 581fb0e4-24e2-4662-9208-21192efb22e7 CLINVAR:286869 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e015d2c-c8ad-4c2b-a22f-f03c63fcb0db CLINVAR:286869 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae59fa8b-7ace-4c54-903a-fc21a93d51c9 CLINVAR:53335 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edffc834-7beb-496a-a70d-2869ac2c83d4 CLINVAR:53335 biolink:is_sequence_variant_of NCBIGene:111674475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e53ccfb-6434-4db5-9e45-d25ec460a667 CLINVAR:53335 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21fd6a61-92cc-4eb5-a847-e2833b298f51 CLINVAR:53338 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b924570-bfd8-4b15-9f84-a7e1835a4780 CLINVAR:53338 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0369567-b512-4c51-8096-e6046e44e8fb CLINVAR:53331 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 434076d4-97f5-4ad8-9600-5b5d8c5e025d CLINVAR:53331 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23d071de-feb3-4bec-b18c-bd35cc47819c CLINVAR:48681 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56fcb758-bfb4-4d70-89c4-5429f1770de9 CLINVAR:48681 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec5cb1e6-259b-4e5d-8389-b20214df2be1 CLINVAR:53339 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f12040d6-5366-49e6-83af-1e0f61af8baf CLINVAR:53339 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8bbbb240-9c8a-4dc9-8814-957335ed3c7f CLINVAR:7240 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c6a0d76-f707-41bf-adb1-850c45734bf2 CLINVAR:7240 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd52665e-48bd-449c-a9a6-301f634f556e CLINVAR:7114 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d154cb78-f540-4a86-b17b-52fba7649805 CLINVAR:7114 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc318740-2d05-4cbc-b38b-6dfba4550fb5 CLINVAR:53342 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09c6f256-bb36-4680-908c-078e2d23ccac CLINVAR:53342 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7372fa0d-75a5-436b-95cd-bfdfd65a1351 CLINVAR:35831 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d90a2f60-8ae0-4a7f-9016-9d8ca385fe37 CLINVAR:35831 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f2be7b3-cd46-4f89-8714-f138f3090358 CLINVAR:53349 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 635ca89f-7ed7-4f0a-bbf4-43b8e03e9623 CLINVAR:53349 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 80f4e8b1-c5ca-44de-b933-9dcae920a009 CLINVAR:53352 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27ccc0e4-3d35-4e9f-bc42-e5b428d5f4c2 CLINVAR:53352 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e219fd7e-8779-4f50-b4d6-f47c78d1eeaf CLINVAR:7119 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbc634e2-65a8-49e0-bb31-de962b0cdb24 CLINVAR:7119 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 793cbb42-cf01-4375-868b-93e5385423d3 CLINVAR:53374 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71d2ce93-34a6-4e43-a7e0-3702297e5846 CLINVAR:53374 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aedd6d94-580a-4a72-b4ca-b0767c60a2b1 CLINVAR:7168 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e7c36ce-29f5-445b-aa27-125ace910eb1 CLINVAR:7168 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 349a4052-554a-44ee-bfe8-58d659ce9d2b CLINVAR:53376 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71958ea8-2f5d-451c-bc9a-02e9096af7bb CLINVAR:53376 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a7266a1-934c-4c3a-b16b-f9ebd7dcc4ae CLINVAR:53377 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b06d283f-27ab-4e33-afd0-1417378ac28f CLINVAR:53377 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 444bb8f5-6a24-40a8-bd79-693d18a16dd1 CLINVAR:53379 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9031701-240e-4656-bbae-c9ab93f83055 CLINVAR:53379 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a352917-78d3-4ddf-bdfb-8bce7c7217f8 CLINVAR:48685 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf80d543-5b3d-4b0e-ac93-e5d61c97b73c CLINVAR:48685 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4be8e1ca-1eb7-44ad-8f2a-1790c2910898 CLINVAR:53388 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3708546-c2b9-4450-af65-9888b7511739 CLINVAR:53388 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 534fceeb-7714-4888-b9b4-7e4fba2b9b2c CLINVAR:53391 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58299e4d-c46b-4439-8cfd-aa523bab9944 CLINVAR:53391 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b9eb9ee-b6be-4c8c-904e-3ff814dbb0bc CLINVAR:53396 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08da344f-a317-4bc0-a4fc-ecfd0f4b4f60 CLINVAR:53396 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d257083b-fc02-4231-8082-283d46abe1be CLINVAR:53398 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a334477e-f0e3-4b7a-8364-998d9dcc5a00 CLINVAR:53398 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd660faa-1a5c-465c-9dc6-e11fff77297f CLINVAR:53401 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08802b56-f8ff-4834-b7b7-104cf7666041 CLINVAR:53401 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f85de5b8-757f-4f4d-b84b-638e0997b875 CLINVAR:53408 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 395281fa-3881-4f14-949b-4f6cb1308557 CLINVAR:53408 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b79222e-b820-4445-b862-fe8f004be0dd CLINVAR:53409 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47bd0633-be91-48af-bddc-d5b80a775eac CLINVAR:53409 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 253faf29-af16-4855-8110-c61eb9f80beb CLINVAR:35834 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9990722e-5613-444a-9d1f-415d27d1e8a5 CLINVAR:35834 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43058ef5-530e-4c0e-800a-5e21c165e158 CLINVAR:38735 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 302850f3-0834-408c-a510-1c28078622c9 CLINVAR:38735 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37af27ff-5322-421b-b602-04fdc8542052 CLINVAR:634829 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b040667-bdc4-40c8-a080-1d0701e265a4 CLINVAR:634829 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 173d0031-9f49-47a4-a4c0-30fd02df5754 CLINVAR:53416 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45c9ab8f-273c-42c3-af2e-17264aa8e6ad CLINVAR:53416 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55d9886d-f3a4-4e24-a2a9-45ef22249f0f CLINVAR:53417 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ff7fe07-ac2d-409b-9a1f-390cdbcceffd CLINVAR:53417 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1423cc71-cee7-453e-af13-f2d67c03fed1 CLINVAR:53421 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3834c139-0f11-49c1-833c-98988d93d5bd CLINVAR:53421 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa66a660-57ee-44a8-b2b5-9d73b22ec1da CLINVAR:53422 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffc007f2-f49f-4510-9141-16d058fc8177 CLINVAR:53422 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff106d84-7088-4677-80fa-f51da61720f0 CLINVAR:35836 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a2aa27b-8804-4c3e-ae3e-e18225d8eca6 CLINVAR:35836 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 841c8066-b7db-4b3d-b2f7-f6802c94dfac CLINVAR:53427 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11396938-1af3-4c6a-a6c5-2a86a15d9e50 CLINVAR:53427 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da463d87-fd3c-42c6-bc21-82fae86ed8b5 CLINVAR:35838 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2ca8ccb-0d21-4f22-a387-5f2ffe7c41c8 CLINVAR:35838 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b3a082d-e634-4f50-a73b-a718554a0b43 CLINVAR:38493 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6656ef31-6229-46b6-8461-f53b1206dd43 CLINVAR:38493 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 3d76ebbb-fe46-4a91-bdcd-fee07fb019cd CLINVAR:35837 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf22eaad-a759-4a25-9439-f5a2c8f2723c CLINVAR:35837 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db07afad-e433-4528-99e4-53545e953b34 CLINVAR:487397 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d803b840-bd6e-45f9-ae90-2edec37663ae CLINVAR:487397 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33f32ad9-a676-41e4-965b-c83cf4eebd7c CLINVAR:53434 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81a56abf-99a9-4ef9-84a9-7c0fae30080a CLINVAR:53434 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32684adf-e405-44cc-8c91-837866888b90 CLINVAR:53440 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a701e92-d266-4d9f-84e3-e9bc0e307041 CLINVAR:53440 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ff2d404-8bde-408a-a038-a8b06ede2cc7 CLINVAR:7203 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1aca09ae-80f6-4266-a830-3f98abc0616a CLINVAR:7203 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79a6320b-10c0-4b0d-8358-640353907c6e CLINVAR:53442 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b63ac2db-82d8-481c-a81b-868978b79eee CLINVAR:53442 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4bc879d2-3afe-4eec-b281-378c38f6f58e CLINVAR:53445 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edef8e86-f3b4-4e3d-a628-5356311a9a3b CLINVAR:53445 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33f87b61-2c8a-4f39-9b58-fd19d5ca4e91 CLINVAR:7185 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 739df0a0-676e-4b6e-b8c7-c51239c8d9c7 CLINVAR:7185 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d18abe8-b8e4-4a5b-b2b1-b88e64b33ba1 CLINVAR:53451 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24f07d49-038c-4d9c-9947-1c8180efee69 CLINVAR:53451 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3589598d-8f88-459e-b8d9-72e4e32e6e53 CLINVAR:53455 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50b5abb3-fc78-40ad-beab-1e96b8d89e86 CLINVAR:53455 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 714ef91b-6d81-4dd4-993e-bd5b8b0943bb CLINVAR:53457 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86840972-85fa-4407-9b12-1fef8f1560c0 CLINVAR:53457 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8aa74cf-9e32-4cb1-aa92-d0aeeb947326 CLINVAR:487377 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 385375cc-0549-4b77-a1f0-04745370c36c CLINVAR:487377 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 380fca20-ceb7-4017-98b2-1e6f6e0295f1 CLINVAR:53471 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f024abe-9c15-43d1-9334-c497d80f821e CLINVAR:53471 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cad2ca89-accb-4c8c-883a-d605171e79cb CLINVAR:53480 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79b52bb0-d17a-4505-b26a-f5bb95aa968f CLINVAR:53480 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eede5a43-7e76-4fd0-8836-ebde5ebfeb5d CLINVAR:53483 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13f33f5b-6508-4a35-9cf1-3e7d85af9b8e CLINVAR:53483 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1973a17f-3db1-4e68-9645-124e2dce57c9 CLINVAR:209046 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24d1113d-3335-4634-8778-f280d6d33f06 CLINVAR:209046 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b01d937-dbcd-4eb5-bb06-a2bc9618b414 CLINVAR:66102 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1994f642-5282-4409-ba0d-f26624ac004f CLINVAR:66102 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce81d731-07ba-4d7c-8b31-d20ad14e3b67 CLINVAR:455767 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfad5a23-7437-4c5e-8fe8-8148e3d67ee3 CLINVAR:455767 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5b2175c-7617-454d-bc1f-20dbc5d57730 CLINVAR:53492 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 902caef5-2b9e-4fbc-8d2b-4e64620c87a3 CLINVAR:53492 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 285334c2-6092-426e-88f2-f8264d860576 CLINVAR:7175 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7370dbb-6a86-42a0-865d-826f19cf640e CLINVAR:7175 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c561112f-f964-45d6-a7b3-789070477d4a CLINVAR:53501 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0004edef-58ae-435a-831f-c0b9737bda96 CLINVAR:53501 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c817818-1141-4565-a2e5-66493273030a CLINVAR:53503 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 028c1f57-e0ee-42a3-bda4-69f796ab6e84 CLINVAR:53503 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f1e9565-d0ec-4207-9611-18f9f7c1f35d CLINVAR:53508 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9208a719-dde2-458e-ad81-dc21e08bd3f5 CLINVAR:53508 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fa7899f-741e-47f8-b034-a54aa39ceb39 CLINVAR:7127 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b2985a8-d23e-42f7-94e2-6d1fa5a5449d CLINVAR:7127 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe264125-ea25-4b97-a0fb-c725b2be7577 CLINVAR:53509 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3d4c57a-795a-41b9-aad7-c45afed8ee4c CLINVAR:53509 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72cdffac-7c1f-4351-a5a4-d65b3b046f99 CLINVAR:7141 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72396ece-4364-4fbc-a68f-0134bbbd8b96 CLINVAR:7141 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b783e87-a431-40bc-a1ff-6ae97b05814a CLINVAR:53515 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d699171-b7ca-44aa-85d9-3e5a24e58b17 CLINVAR:53515 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 384a2563-094b-42e7-9e8e-5fbc556ec036 CLINVAR:53516 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfad272e-c398-45c8-8c3f-82d7db1abc4f CLINVAR:53516 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01e03dbf-079f-4b49-9320-93000a53aecb CLINVAR:487396 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed797867-e727-4722-bbe7-51b49bf842a2 CLINVAR:487396 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel edf59257-8f3e-4134-ba38-15d0bf5f0e7e CLINVAR:53535 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar daf51800-7b82-4b7e-a1c0-2bfcdf6bdf37 CLINVAR:53535 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5afb41d9-31e5-413e-a85a-e7ca1236b53a CLINVAR:38497 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82a13ab9-26d2-45c2-aadf-cf92ad802e8a CLINVAR:38497 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 1e969497-f4cf-49a5-b7fa-e996a9984965 CLINVAR:209045 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar acb9db25-d8f3-4f44-8a93-a462cbc24d8c CLINVAR:209045 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2126ee86-5727-4693-92cc-bdb8cf50dcda CLINVAR:7204 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35a79952-dabd-444c-95d5-96b6c5098973 CLINVAR:7204 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e3e100a-02cf-4aa3-873d-beeca5c6d2a5 CLINVAR:53550 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49dd1080-592c-4825-9eef-91a54f6da10e CLINVAR:53550 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd5a4e0a-d80f-49a2-b48f-b792d5aeebc2 CLINVAR:7149 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8170636-3124-463d-b711-45b1b9322639 CLINVAR:7149 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 634c112a-088f-411b-bdf7-795e8b878cd4 CLINVAR:53552 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60d9a79a-5c7a-4aa6-a31e-7ca2cd6c9ba9 CLINVAR:53552 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d397eb98-465f-4af4-bbc4-941902b7247e CLINVAR:53563 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0b7ddb2-93b8-4845-89e2-ddb6659a4577 CLINVAR:53563 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba2565b0-4765-493d-81c7-1ae3d25bdd19 CLINVAR:53568 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 420c2351-5376-456b-b38c-1c4a84b09094 CLINVAR:53568 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e724587-b5d8-4764-8444-137de4bcce18 CLINVAR:35849 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa0bba94-1d24-4c16-84bb-e2f435e2ecd0 CLINVAR:35849 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b042a70-21de-4931-a137-c921c132d5b7 CLINVAR:555883 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8baae2b2-c2bb-40ef-84e0-b9fdeb73f797 CLINVAR:555883 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2682976e-c95c-4bfd-89ad-b38aed38524b CLINVAR:53574 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6fa7c669-8f77-4ec6-a278-818353462970 CLINVAR:53574 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c56fba9-f82f-4e47-85e9-40590ee0cdee CLINVAR:53575 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7b440d8-226e-4c66-9d55-15416dba9480 CLINVAR:53575 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d248e2d-2e7c-4d2b-9356-bb153a10edab CLINVAR:53581 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fce7ee67-8bdb-4593-8fda-200c3a57c03d CLINVAR:53581 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5add466b-2641-4545-9441-c12f13b498ec CLINVAR:53583 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 190e7591-94ce-4ef9-9752-1da4cf2212da CLINVAR:53583 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdd717eb-4f03-4e68-bab5-e628981a2953 CLINVAR:53587 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fcc1b245-8e1b-4dcf-a60f-e9b3c0fcf4d1 CLINVAR:53587 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72b76b74-8e3e-4316-8a05-d702a91b815d CLINVAR:53590 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7727f32-96cc-4a9a-bce7-85105cf763bd CLINVAR:53590 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a955fb0-247f-41c8-b930-21f5fbd8d493 CLINVAR:35854 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3b6d931-bc7c-4e3e-9483-bb9a930e0fe1 CLINVAR:35854 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa3f7225-5da0-4a8c-aca6-b1a8cd850a20 CLINVAR:35854 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 383075e9-033f-4121-aa70-cb9e17e6235e CLINVAR:53603 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4258de6d-9068-4582-a7e2-eb76137ad425 CLINVAR:53603 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b13f7cf-e6b2-40bd-8fa7-97c29852163b CLINVAR:53603 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c855f9da-74cd-48b0-a829-a1b238f68b09 CLINVAR:35857 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b809a991-274e-4fd9-8ca6-2c43b8300557 CLINVAR:35857 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38767112-3a43-490e-9406-a878dc38d257 CLINVAR:35857 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 30a3125f-f087-4682-bab5-d95e5b856fea CLINVAR:7224 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c03abe5-1fbc-461b-aed5-88f64eb63f5b CLINVAR:7224 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d093b10d-9c64-42fe-a3c1-5bf03e1d4f7e CLINVAR:7224 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 47a42412-7cbf-4963-8294-c9f34ad2b7d8 CLINVAR:51033 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96656c56-513a-48ea-9cf2-d7c2fceeef63 CLINVAR:51033 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0a5d856-bcc4-432e-9039-f5c1bb578560 CLINVAR:51033 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d9eac08-90ca-471c-8faf-d6b3b8cc9344 CLINVAR:51033 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0316ab25-3dc8-45d1-a0dd-c2b8c6ea5704 CLINVAR:53616 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65d64c74-0946-4049-848b-c6d66f8ac63a CLINVAR:53616 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd4f758e-a876-42d8-8b59-c13f82ebfe16 CLINVAR:53616 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 802d507f-6b54-47e3-b038-2f5b2c352e97 CLINVAR:53616 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e12e4a2b-e065-4f4c-aa41-7bd1c1b851d1 CLINVAR:53614 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc033434-1659-4052-bacf-4eae3dd37203 CLINVAR:53614 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e4ff7ca-9274-48d4-a071-28643fda6b02 CLINVAR:53614 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar deb07c19-72cb-42e1-a123-6d3efa8daa13 CLINVAR:53614 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de0779d7-1c7e-4d71-91c7-ab283bc46561 CLINVAR:53613 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 531931c0-a091-4be4-adc4-b08d72b05ae8 CLINVAR:53613 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c06e8138-710f-48c9-a545-30198daf7cc5 CLINVAR:53613 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a2dddb8-e8eb-4918-931f-27f5057f0377 CLINVAR:53613 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 223ae1ef-d0a1-437b-86a6-d9cf99fe9dd9 CLINVAR:53623 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c6e5dc1-1e56-41f6-92c4-b9c26bb529e2 CLINVAR:53623 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac85737b-ddd7-4b4d-ab70-8cbb03be49d0 CLINVAR:53623 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b79aa38-8af8-42e0-a995-8fe138b2e1e6 CLINVAR:53623 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20f6b149-4e73-4297-a22a-ceaa1facc905 CLINVAR:634830 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7dd9a69c-fa5b-4818-9730-819ef9f6b481 CLINVAR:634830 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3434ff3c-f357-40d2-8634-5f69f70be4a6 CLINVAR:634830 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3423cea0-6971-4fa4-9293-10d1a7069258 CLINVAR:634830 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel def204e7-3989-460c-9772-19f1743299f5 CLINVAR:53627 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd8ff0d1-390b-4d18-bddb-48b6a26e0370 CLINVAR:53627 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4e96eb0-0c4c-43fa-b4d7-38022e33403e CLINVAR:53627 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca12222c-254e-4e7c-a698-6b1365ee008c CLINVAR:53627 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 343e2436-bc29-404b-8c7c-14a1084b80ed CLINVAR:53635 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30f910f6-3691-41d7-9d6a-980e76caee64 CLINVAR:53635 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70f73895-0491-4431-9a3f-63727f87612f CLINVAR:53635 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0c31d9e-0d8d-45c3-9831-0a2d76b1ba7f CLINVAR:53635 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e1e5997-0bd2-4041-bb75-98a81a17d56d CLINVAR:53636 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b885f0f-53aa-4975-96d9-0e0c9f04181b CLINVAR:53636 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc851a5a-1f32-49a9-aa72-69b94169c5e3 CLINVAR:53636 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fadcf516-6526-4a8f-a70b-dc0f37bb1d38 CLINVAR:53636 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5f08c4b-d62e-4847-a7ef-29a6c58af568 CLINVAR:38480 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0dc02c10-dfda-4715-8319-d2e734ea8810 CLINVAR:38480 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc6ffb6b-b7b1-45bf-89ab-a57c7bd512d6 CLINVAR:38480 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4340ba96-9877-43f6-9da7-3b587cc7ccdc CLINVAR:38480 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d38ea0ec-5e6a-43af-8039-bc2abed312b1 CLINVAR:53650 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0c00b39-ed69-4a58-939b-ba0af1e1d7e1 CLINVAR:53650 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 870e6f8e-5fec-4051-9de5-257c3eca5fdd CLINVAR:53650 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 908d7eca-6ef4-4fef-ae71-8f8034d0ce33 CLINVAR:53650 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5ff47d6-e201-4477-a0d1-1c3ef907bfec CLINVAR:53652 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bddcb77-e955-4350-9cec-79251ea2db59 CLINVAR:53652 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 834985d4-fc2f-43c9-ae1e-0f638b639a09 CLINVAR:53652 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80debc76-dc4c-40bb-bfa7-9059b823a919 CLINVAR:53652 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27d6f1d3-2e91-40a1-ac8e-7a9b138bdecb CLINVAR:53654 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c89705e3-c0a9-4c9e-a45c-810801e99742 CLINVAR:53654 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afbdb253-99ea-4688-a327-9b0056d8075f CLINVAR:53654 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41894d97-6539-4023-915e-aa5ca5f2b84d CLINVAR:53654 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d49f351a-08d8-437a-bfe5-c9719c3eb42f CLINVAR:53660 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45c845e3-5b82-4011-b0bd-35c70ebb7265 CLINVAR:53660 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 601b9f10-8083-459a-964d-1f8cee39111c CLINVAR:53660 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8db1805b-beba-4f71-aacb-5d4c59963ca9 CLINVAR:53660 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65de249d-1ea6-48a5-af24-a780b56aad21 CLINVAR:35864 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ebb320a9-33af-4484-8949-a76cbe88e3bc CLINVAR:35864 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9688305e-32c3-481c-87b5-7cedff590f1a CLINVAR:35864 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a273bc62-5c6e-431b-a490-8335b0a97ca3 CLINVAR:35864 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f30bcebb-90b2-4fbd-a4b8-bccb7b2ea372 CLINVAR:53667 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 627c24b3-cb57-4a00-8656-fc35972beb04 CLINVAR:53667 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5a5d537-27d1-4cf5-9b2c-e493021d7597 CLINVAR:53667 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9301cb5e-8630-4df8-8076-a52f5b7dd2d6 CLINVAR:53667 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44f902b7-dba9-4f22-af8d-83a88ec82f16 CLINVAR:53672 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c433239-ef49-42a4-92ac-2f271f3e83d5 CLINVAR:53672 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbec6c8a-dcc3-4452-b977-299d1a59436e CLINVAR:53672 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e58b5115-3c91-401e-8d8c-ae597e99c1fc CLINVAR:53672 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aeb8df5b-2adf-49b3-8857-dd0a8e934a10 CLINVAR:7208 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e816f47-492f-423b-844e-81bf07f8454e CLINVAR:7208 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 943254a5-ad4c-4163-b32b-a8d437c99ca4 CLINVAR:7208 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bd0b847-c677-44d6-8049-66680bd8f0eb CLINVAR:7208 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4414c21-1c66-4204-be11-5d0b3d4f0ba5 CLINVAR:7162 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28049815-4870-42cd-9c93-e03c21208310 CLINVAR:7162 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84d71695-9ecc-477f-8b2b-cf3d04ed4c29 CLINVAR:7162 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9aeb571e-d808-41fe-9644-375828ab92cf CLINVAR:7162 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2abb906-1694-44fd-9804-e3263838639d CLINVAR:7158 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6dfa1197-c6c0-4d9f-bf93-1b52f2d2e04b CLINVAR:7158 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 363aea22-3a52-4d3a-968c-9e258d21f668 CLINVAR:7158 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ced37a7-255d-4877-93ea-6849469c73aa CLINVAR:7158 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 775fc384-fd70-42ee-a624-b8388d41ac32 CLINVAR:487379 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56fd6113-63c1-43b7-9e30-6ae847baa7e9 CLINVAR:487379 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3460e080-0a9e-4bcc-bcc2-96c64208fa6f CLINVAR:487379 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abb9d7a2-8058-4790-b7fe-0ccf056e195e CLINVAR:487379 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b9a1a8c-b7ef-41af-ba40-20f4b5a7ca52 CLINVAR:53690 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec73017a-e3f5-47c9-ba7e-f60f68a11166 CLINVAR:53690 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74a5160d-d168-4c79-9e57-b8352c62dfe8 CLINVAR:53690 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b016f634-b00d-4793-8c8e-7e2d75219d62 CLINVAR:53690 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6d06ae6-e34b-46eb-a6fe-bfc805326cc2 CLINVAR:7194 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42ec2f3f-34ad-4dca-940d-eb57ab8eb1fc CLINVAR:7194 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e2e3273-2871-4487-87c2-568869119bf2 CLINVAR:7194 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8c6808c-3559-48bd-b29d-74e2652c5a01 CLINVAR:7194 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ed387dc-8d47-4b4a-80e9-dd3e32f4c627 CLINVAR:38728 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar acce288a-d52b-48c5-83f0-a96af7fae1a0 CLINVAR:38728 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 842d90b1-71e2-4f39-aaa8-9b6db002f6ac CLINVAR:38728 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3337efc-e140-458c-89ea-c5bf3c61dec5 CLINVAR:38728 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4be6870e-8fad-4dd8-b2b3-a27e61d8dc0f CLINVAR:7211 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42ce0b6d-5b73-4ad1-b034-bd2d6b2b1781 CLINVAR:7211 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c0ab04f-7ff9-4be5-b8d9-3e3499ea9908 CLINVAR:7211 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75e5241d-8674-4abe-8f6b-1919086ab644 CLINVAR:7211 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e741a80-cdff-4c9c-be68-b17507832d45 CLINVAR:53707 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3b6efd0-0ea4-40dd-8527-8dfc806bd807 CLINVAR:53707 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8caff090-e1ab-40c4-ac3f-2a61f8e43214 CLINVAR:53707 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87c6e8ff-5e94-47b0-951d-24a2b2f935a4 CLINVAR:53707 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1d7fd97-7ea7-4f22-88b1-42ef0acb025a CLINVAR:53708 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c32a822-7b0e-4164-b1cd-37d8a62edeb4 CLINVAR:53708 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8f0baa4-41b0-4503-9dde-0ab557ec7d8a CLINVAR:53708 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fd0e47d-9a4f-4e07-9661-4983ede426f1 CLINVAR:53708 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39fce988-3bc1-45e6-86d1-ad0c5482da70 CLINVAR:209057 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b396848-721a-46cc-9bd1-11c1cd8c0f02 CLINVAR:209057 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1626939-013a-4ffd-8398-50795f9292ad CLINVAR:209057 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15c49a14-6162-4399-9d7e-eb93cd5790a8 CLINVAR:209057 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81d8691b-c757-4bd9-930e-12c86e13bbc5 CLINVAR:53709 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eeade4ed-79ce-46bf-956f-b8fdd8def05d CLINVAR:53709 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0cfff450-d8ae-42a4-a253-c43aa16f2a52 CLINVAR:53709 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c910e241-790c-4a77-a1c3-9d3c517c07bb CLINVAR:53709 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd8e133a-c893-4b39-b993-ffe02ce9641a CLINVAR:618905 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38a725fa-b6b5-42a3-b292-655fdcfa49de CLINVAR:618905 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ebe0a8fe-c7d8-42d5-a9e7-e0dc10a84230 CLINVAR:618905 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9e697d5-c8a5-49f7-abb5-c8a20c568bd6 CLINVAR:618905 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 66f9c8da-ed27-4447-96e4-19173a9f39ae CLINVAR:39516 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f88ac11-4dbe-4bd5-b35e-44bc324f360e CLINVAR:39516 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a9936bb-9ba1-48a8-bca8-9d3099bed2c4 CLINVAR:39516 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e565c402-9f81-4c92-9b44-8d80bdf08884 CLINVAR:39516 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fdfa04fa-19e1-4d8b-b174-b8a46fdaff0b CLINVAR:53712 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4413c5df-545d-4a47-a37c-bfa76fc2d1cb CLINVAR:53712 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfa279d2-3736-45d9-ba68-aa51af92bdba CLINVAR:53712 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1abf377c-167c-4f23-8fcf-80da166c5e3c CLINVAR:53712 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa6136a2-6c08-4238-bd48-aedaee9ec441 CLINVAR:53713 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a80e41d-c556-4a6b-90d0-035bd09d0dd2 CLINVAR:53713 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5bf3b95a-fd13-4fd4-b601-51c1b86e086b CLINVAR:53713 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e3bc87b-84d7-4445-8906-441634579fc7 CLINVAR:53713 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1713e896-c817-4d79-935b-f2f98c483357 CLINVAR:53715 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21634704-3c5f-4a8c-8ac2-e755c56a05db CLINVAR:53715 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5107aade-fe28-4c24-a1df-2bf5e340b261 CLINVAR:53715 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c64528d-4463-4766-8e66-bae647e4dd80 CLINVAR:53715 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a45bf4b-18ab-4425-aa1d-a57d4f05a6ba CLINVAR:53722 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00a014c3-8c00-47cb-b6cb-f2e3341f66bb CLINVAR:53722 biolink:is_sequence_variant_of NCBIGene:111674472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3ab7739-34d1-4da4-b2c2-97d00141b537 CLINVAR:53722 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ff25c7c-fb92-4ccd-b6ba-3a0d1e119105 CLINVAR:53722 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf192ed0-5338-4f98-a12e-0e91a8066064 CLINVAR:188783 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed03fe0f-b610-4922-8e2f-f1db6264ea3a CLINVAR:188783 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3770b833-190a-4e26-a608-e9f2e71d537e CLINVAR:188783 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 260d19bb-b8f2-4cd8-93ec-d7b04437b146 CLINVAR:1300165 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a60a7a1-fb3c-4457-8d67-dfc040d234d3 CLINVAR:1300165 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4bc6710-738d-4692-8750-681a4ee28a6a CLINVAR:1300165 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c0fcfa4-b68e-4cf2-a516-ce2c0426734a CLINVAR:53741 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35b436fb-d938-4cf8-8d4e-7b1829ebb855 CLINVAR:53741 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5c88450-e926-4b0d-8363-f46be6438843 CLINVAR:53741 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b3644fc-db29-46db-905b-1f9f658fcb89 CLINVAR:53750 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3024f927-14b4-4689-8f45-a12e12964dfc CLINVAR:53750 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ee00584-061e-4b49-8e40-1cd328935809 CLINVAR:53750 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad8e76d1-9bcf-4849-8b47-1c80ec3cba7c CLINVAR:487380 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ec6dd1e-ef1a-428e-b560-e9c0991d696b CLINVAR:487380 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cbbda31e-b599-4bc3-a2c6-1f2fcdb52651 CLINVAR:487380 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c335bdd4-0d99-4886-8953-527e072942ab CLINVAR:487381 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c594dc31-cbae-4255-abc9-2149dfbe4634 CLINVAR:487381 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34687edb-af60-458d-9c3c-bfd94fc5f4a1 CLINVAR:487381 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34cc6218-c2d6-48c9-986c-68d78a00c89b CLINVAR:7144 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c1af1f4-881a-4faa-af6b-cdfc9f642f51 CLINVAR:7144 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bef17743-2ca2-44a8-897c-cdbf8cdc7d9b CLINVAR:7144 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4aa3bd6a-6179-4cdf-aefc-3bc9d44e9ed0 CLINVAR:53756 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20b06cf0-47ed-4cc6-8fe0-8ed742603046 CLINVAR:53756 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b19e6f3f-5030-4377-93a0-e70b1bbf7bb9 CLINVAR:53756 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b96045e-b77f-4347-b7f1-f8e4eaa705b3 CLINVAR:53757 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e270eb05-67c8-496f-a6d8-a2a203495e48 CLINVAR:53757 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b796d3f3-fc6c-429d-83b7-0e55de3bfaec CLINVAR:53757 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c311f515-548c-4d4b-b45e-794cd899a0c2 CLINVAR:7137 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4466f0f5-9f11-42e6-9f86-4a073b4a1567 CLINVAR:7137 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de7f7bd5-455a-4cb7-895d-2298f7c821fe CLINVAR:7137 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 8480e8b3-5a58-49cb-a8d0-c7918631ac92 CLINVAR:35868 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4aa2954e-ab2b-4dd9-b5d1-b0d751676493 CLINVAR:35868 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c45dcc86-3cc6-4bf7-af18-921a11b6545d CLINVAR:35868 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline 0340a325-05c2-49ab-bf78-f3dd38115de7 CLINVAR:7222 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c98c35a-65ac-45bb-a542-345d7becf112 CLINVAR:7222 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4734b7aa-f82e-4157-9bff-0e28338621ff CLINVAR:7222 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7717e30-00c5-4898-b4e7-81646336f0cf CLINVAR:48674 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b4e2d8a-06b7-430a-a447-3597b2d75cb1 CLINVAR:48674 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3f5c2f6-cbff-4a41-82b3-7d27dce90851 CLINVAR:48674 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aadcc7ec-8e1f-400f-a8ec-8dea33db85bc CLINVAR:1300166 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dabb8c35-ae34-401a-9a41-9c36f50c8632 CLINVAR:1300166 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44e7bc25-c43d-47cd-b661-575355ca5ff2 CLINVAR:1300166 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2ad492c-9e52-4311-935b-4d6c1a7c3108 CLINVAR:53777 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f41959b7-28fe-446c-9c55-fdcad4fe356d CLINVAR:53777 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3de27f97-6612-4d8d-a099-4800bfdfaabf CLINVAR:53777 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ddef187f-114f-4bab-85af-d986c7a166ad CLINVAR:7212 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c18238a9-82f0-4c6c-aa8b-ccda5d5d46a8 CLINVAR:7212 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e3c1b8c-6b8e-4e8b-b404-e699ca5939d2 CLINVAR:7212 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0480ea84-0870-4bca-ab73-22fb40a4b70f CLINVAR:53779 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35d8edf4-5d6d-4da5-9154-b697ddd636e3 CLINVAR:53779 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc41f5ec-2f77-4bed-95df-d1d8f35c80ee CLINVAR:53779 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d77eaa3c-ca10-4055-a962-c52d826992ea CLINVAR:7124 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0dd08aaa-f59d-4426-8e83-572b68cc2fe8 CLINVAR:7124 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74a4b13d-7f70-4591-b0ce-be46f17389b2 CLINVAR:7124 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4867862-4d6c-4e03-9829-e6d2996d47b0 CLINVAR:35871 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc4eb791-724e-4e38-b244-7af5d8cfb57b CLINVAR:35871 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5980fe44-51b7-4c41-a7cf-bd2fc2e789bb CLINVAR:35871 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15cbc53e-cf7a-4362-b701-ea4548cc335f CLINVAR:7215 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2910d57a-ab58-41df-b5d2-1f50b75a322b CLINVAR:7215 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87f68c42-0eaa-4f99-a2fa-7d8e558fc09b CLINVAR:7215 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05579532-ff17-451f-bf81-50b85100928f CLINVAR:53791 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffa1b31e-8ffc-4b1d-afdf-f0a0fcce5755 CLINVAR:53791 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec3c2dac-9792-4691-a4d7-d8e2aa72df10 CLINVAR:53791 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13a785ce-af43-4320-9c56-a4d0b958c3f7 CLINVAR:7138 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15554ddc-ba51-4945-af14-a58bb700c1cb CLINVAR:7138 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1892fd6-dfbe-478d-9947-82aa9b2ecce9 CLINVAR:7138 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07f4b4ad-1992-4bc4-aa72-432f1d3c935b CLINVAR:35875 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88cf04d7-7b34-4050-9ac7-6749be6e7964 CLINVAR:35875 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd94aded-13b0-4a24-801c-a558c013430a CLINVAR:35875 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57b94339-841d-4b1c-972c-8ad2db326474 CLINVAR:53789 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e983d950-fb2c-49ce-912b-5db09e5db9ce CLINVAR:53789 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8829a37-dcb9-46ea-932f-64a5d9cbc7d9 CLINVAR:53789 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4fcaf9b7-0f25-4dbe-895e-fc59176c4ade CLINVAR:7166 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19df1be1-9a87-4f76-a33e-e15fdd3c641f CLINVAR:7166 biolink:is_sequence_variant_of NCBIGene:113633877 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9595d6df-f29f-4d80-9a66-a2aa16718015 CLINVAR:7166 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 741d6e39-65ad-4f49-8535-40f9a8b01070 CLINVAR:7166 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline cfeaa4c3-9167-4bc4-891a-c0f9d03e99e3 CLINVAR:53793 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d794e2c-361d-41b6-aca3-56f16806169f CLINVAR:53793 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0013671c-da8e-4302-ae18-f6f4e1f4c76a CLINVAR:53793 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b477aa1d-2be6-458a-9d83-ce302643da61 CLINVAR:7177 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25b7103a-9744-457a-8748-eb09e23e3a90 CLINVAR:7177 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c25bce94-0753-4eba-8ac3-87a799325776 CLINVAR:7177 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0659488-4998-4bde-97b6-8f83cda4360e CLINVAR:53795 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88c1f6d2-82d2-4b55-af66-8aa4aacfaaf1 CLINVAR:53795 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9277abac-20ff-46b5-8983-54d7002ce41b CLINVAR:53795 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b244752c-6ce9-40a6-8a65-42cf5f955d7f CLINVAR:53797 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fa20e62-e76d-41fe-a12f-0cbd410df8bd CLINVAR:53797 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d648675c-34b6-4c95-80f3-7b370b369a20 CLINVAR:53797 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd5462b1-e461-4c28-b354-ec44f2a5eda9 CLINVAR:7231 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd7e73f2-cf26-4de0-8a9f-49386408f067 CLINVAR:7231 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb335620-b2c2-485b-a714-59cfa2e3fe01 CLINVAR:7231 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4601008c-252b-4d08-811a-a681237e178f CLINVAR:209056 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93356b4b-b31a-40c2-8a41-05848b3ac970 CLINVAR:209056 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dca90623-65a5-487f-8ba4-23aaf6019d2c CLINVAR:209056 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9124e0c-089f-441a-9dd4-110ed6be9a8a CLINVAR:53801 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1060ea2c-f450-4d90-8e27-0bf7eb19c9b1 CLINVAR:53801 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c03c2bf1-39f3-44c3-b160-36ced041e01e CLINVAR:53801 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3a6e4e0-7b42-40ea-90f6-ee1d17bb728f CLINVAR:7217 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2eca1d9a-9d59-4be8-bd54-fac2f1f6f616 CLINVAR:7217 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43077034-bf96-4059-85bf-135b3a05d8d6 CLINVAR:7217 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c252cffb-f3a6-4f4b-b096-e53099d83e9d CLINVAR:53805 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc2651af-4a80-4072-abe1-f76996505f0f CLINVAR:53805 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11e2e600-7b45-4432-a0c6-5e3072ca92b8 CLINVAR:53805 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d2b8dc1-fe05-456d-9311-e42f7a1193e1 CLINVAR:7192 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b09a71a0-64c4-4edd-a53c-31f44b074e78 CLINVAR:7192 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08777cfc-d0ba-4922-a769-9935a618b844 CLINVAR:7192 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96149e0d-4829-4914-b2dc-b651c5bc795a CLINVAR:7125 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2dff26ba-ebb0-470b-b0e9-6f62b39a8aa3 CLINVAR:7125 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar baacf7b9-26c9-43f0-9ef9-7859159130ed CLINVAR:7125 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92831cc1-97b2-4dde-a728-3d044f274769 CLINVAR:38726 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf73e2e8-3c22-4485-a200-706b11e3bcdc CLINVAR:38726 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c09d9644-709d-46a9-929c-6fd0739aeea6 CLINVAR:38726 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c634aae7-3e96-4bf3-b79e-7e32bad687c6 CLINVAR:634832 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 550d19b9-78c5-4a92-88ee-d6a9883cc647 CLINVAR:634832 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 780c609e-c448-489d-b30d-c182ee19a3ab CLINVAR:634832 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42e5e9da-3c17-4ddc-b7a6-6c4fcde9bc76 CLINVAR:53817 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac61bc25-458d-4a16-8ad0-729dabc212f0 CLINVAR:53817 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13e10e7b-41cf-4e51-853e-5cee00ac2c4a CLINVAR:53817 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3cc3ab26-815b-40fe-9b1e-90e76fe9228d CLINVAR:7129 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e292739c-94b1-4552-b3d3-a414cf323b3f CLINVAR:7129 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67149dfb-ff05-4f47-8f1a-2175d144cc88 CLINVAR:7129 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline a563374e-aac5-440c-b477-a16a89aefa10 CLINVAR:7167 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73c4be95-f66c-4e00-a83d-52429e7f1b0c CLINVAR:7167 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f2c94fc-d9e9-4716-9be9-63ddaef9c2e9 CLINVAR:7167 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a09be5b-1519-44e1-86ff-cce9bcac82ee CLINVAR:7160 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17e8a953-62a3-485b-b700-058040169d27 CLINVAR:7160 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aff21156-d05c-46a0-a8d5-4d51567444a9 CLINVAR:7160 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e450a744-9393-4edf-89a3-b3954cb03bc3 CLINVAR:53828 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9797c211-3983-4eb4-9eee-d981186e1b8d CLINVAR:53828 biolink:is_sequence_variant_of NCBIGene:140577507 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f721bc0-ff55-4b35-972a-1ba7d5fa1557 CLINVAR:53828 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c5db8de-7c6b-47eb-95ea-6c64b7171bc8 CLINVAR:53838 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c56da83-5ca6-4a08-a097-93d5d5d45e6e CLINVAR:53838 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4e90194-45a1-4178-8553-a4fa8c1e496a CLINVAR:53839 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35a361b2-914f-4103-bf20-e9bb39471ffc CLINVAR:53839 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3227d758-7354-4ee8-aa8c-98552cad3ba1 CLINVAR:53841 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d52c369-a812-426a-a523-982c35d9afd9 CLINVAR:53841 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb22507a-493a-460b-a68d-33ea76a7cd7e CLINVAR:53843 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb1f905e-bb5f-421a-9026-cc3d6098b5d3 CLINVAR:53843 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3a967ee-e889-4151-b6d7-60124d2afc63 CLINVAR:487401 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50dc043e-9727-4e00-b85f-2dd2cf112855 CLINVAR:487401 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97b1d45c-680e-4315-af41-c36aa2fa7301 CLINVAR:53847 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54c1605f-2405-41f5-9d2a-0b937493043f CLINVAR:53847 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7af76ca7-a0cd-448b-8b95-06410b132e6f CLINVAR:7136 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66ddeb29-9a7f-46dc-af7d-6ca008eef5da CLINVAR:7136 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar practice_guideline dbef8b89-91cd-4753-a19e-e8ae0cff53e5 CLINVAR:53856 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71b35e72-b480-42d2-bd52-e70245c748fe CLINVAR:53856 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 662ba254-3c49-45b5-b5d3-3414ac87fee2 CLINVAR:7180 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61b559da-79c6-4a65-8301-0f860256cf9f CLINVAR:7180 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 539e8384-41ee-45f6-8b65-1afe02326606 CLINVAR:66104 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69392dbc-f89c-4257-bf7e-e23cf913905f CLINVAR:66104 biolink:is_sequence_variant_of NCBIGene:111674477 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffcb1571-fb81-4e37-8f25-3faa435ddde3 CLINVAR:66104 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel afd6f9ba-2e14-4c3e-aa11-fd2f22a1abf2 CLINVAR:53865 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea1ad385-adf7-4f46-b08a-d187ac960f35 CLINVAR:53865 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0e87efd-3e13-40a1-8eff-87bb87e6f14b CLINVAR:487390 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae40ec15-8688-4f99-be2a-a0283983f996 CLINVAR:487390 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fdf3b163-ee79-4e57-be06-653010a0d64c CLINVAR:53872 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 597f5e59-31de-4a3f-a4ab-64039f1cc294 CLINVAR:53872 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea495a2d-ef4b-44fb-aa74-d33f1315bd3f CLINVAR:53876 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e60760b-a59e-4435-974f-49fd3e843b5d CLINVAR:53876 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0785a097-f4c3-413f-8f1a-af5daea79b29 CLINVAR:35881 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81c20fca-781a-4f99-b6ef-ef7db500f3a2 CLINVAR:35881 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel baf42e93-3f47-4873-866e-7ce9a7f6971d CLINVAR:53883 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c24240bb-e9ff-4673-a29f-f2e0675b1e39 CLINVAR:53883 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97359bb9-643a-4bd1-84b0-b1c9428ae2a2 CLINVAR:487402 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75148f1d-d3ba-47c0-9323-0da3ebb15138 CLINVAR:487402 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85997f2a-239f-485f-9d9e-69f2f9c1e7fb CLINVAR:551822 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8d20249-5374-4fbb-9ecb-8fec2c870a1e CLINVAR:551822 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b304d9f-5961-4cd0-abc7-84131b07571b CLINVAR:53891 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b71fbc9d-e621-4a00-9d36-5db950acb694 CLINVAR:53891 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63d8976e-4a3f-43b6-8870-5beafaf178c9 CLINVAR:53895 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3670c9da-9516-4bbf-a561-96a7e7f8d955 CLINVAR:53895 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be054e9b-1b8e-480b-bf1d-b48a94f8a471 CLINVAR:487383 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99ed9100-cbdb-4a21-a173-f786f37655b5 CLINVAR:487383 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d93eafc-1c98-42db-a058-fc9a382e5382 CLINVAR:53903 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52d95c49-1822-4116-8215-45def33493de CLINVAR:53903 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c8f3145-35f2-4afe-b706-ead089e9dd1d CLINVAR:53902 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5152ed0-80a4-4d4e-b64a-de3aeac37e80 CLINVAR:53902 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2745bb0e-c711-4448-9a5a-f1cb44474606 CLINVAR:487399 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0e182da-824d-4b6d-9a83-d98a50a2fdb3 CLINVAR:487399 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b183a049-3247-4ba4-b131-c80a5dadfbf8 CLINVAR:53925 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d7ad775-04a0-4b2c-aa48-a0ecd6fd8b17 CLINVAR:53925 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba76a755-d99b-4ff4-8a6e-8a870db6e84d CLINVAR:53926 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e50a1d5f-3c3a-414a-a00f-454c53784c32 CLINVAR:53926 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c69626fd-bae8-4471-bcc2-bf2fff4a371c CLINVAR:53929 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85cc4301-d460-4704-8e10-fa19faaedd89 CLINVAR:53929 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e469fa1e-a3e3-4acd-9316-b6cab9b8fd1a CLINVAR:53930 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 932c5618-1a94-42a7-8a7d-48f253ebf947 CLINVAR:53930 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 621b7352-50af-41a7-aed0-1c4035a072d2 CLINVAR:53933 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9dfb66d8-1f7a-40eb-97de-4972bb60e6a0 CLINVAR:53933 biolink:is_sequence_variant_of NCBIGene:111674477 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18011179-8027-4d23-834c-edc820c7a508 CLINVAR:53933 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b2d302d-7f2b-468b-9c2b-08ba11bb0343 CLINVAR:370324 biolink:is_sequence_variant_of NCBIGene:1080 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3a96c54-2c99-4c40-877c-94a247a8f30e CLINVAR:370324 biolink:is_sequence_variant_of NCBIGene:111674477 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 092c90a4-4442-4c7f-9a0e-1b7c4f0f13b0 CLINVAR:370324 biolink:causes MONDO:0009061 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3ad7f3b-3b80-4e5c-968a-9772114f9907 CLINVAR:40389 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27b3cfe8-0f6e-42f2-a31b-fb77a1dcfadd CLINVAR:40389 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63a185bd-3a56-4c24-86cb-1953f5e1f7c9 CLINVAR:40388 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 129508d4-3526-4475-aeee-2be417cfc731 CLINVAR:40388 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5532c95e-a669-4d87-9d8e-248a1b1e6b47 CLINVAR:280033 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ebc6915-1740-4dac-bf8c-d790b6d3f5dd CLINVAR:280033 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9de6aab-7cf6-40cd-870f-00156b97c27b CLINVAR:40387 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ccdc9856-102a-4c33-9bf7-c908b260085b CLINVAR:40387 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64c6935e-62d2-4f2e-be94-95a54554e0a3 CLINVAR:177672 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad014234-3158-400a-9a01-1206c4d44830 CLINVAR:177672 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01dd81cf-2e03-4e78-bc1e-1cd58f033d56 CLINVAR:375946 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc3b7868-82fc-4465-ac74-7c15548d7077 CLINVAR:375946 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdc44d93-a041-44fc-8141-46e48ec884c6 CLINVAR:13979 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c969d7e-b6df-4fb6-ae76-e3f7519e97b9 CLINVAR:13979 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d939ee87-2fb0-452a-9203-566838c22625 CLINVAR:40380 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 218bbcaf-4e82-4149-a306-afb43192b85f CLINVAR:40380 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8fecfa25-5628-4df6-96fe-5da46a1bfbff CLINVAR:177844 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81862368-3bcc-40fc-8930-89b7eae4c6ad CLINVAR:177844 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c117ed8-d8b7-4d70-9da9-a114dd5b77ef CLINVAR:13975 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19169064-56c4-44f6-a5c5-098780dfb796 CLINVAR:13975 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e2c46c5-9aff-4c4b-bd00-eced7afe4c46 CLINVAR:40370 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad659bb8-a633-433d-82e2-796aaffa90a1 CLINVAR:40370 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3ecc5739-c401-48c0-9e9e-6adfe9a3237d CLINVAR:13974 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c45c4167-7923-4469-9d5a-6fb333230ba1 CLINVAR:13974 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98c2aa0c-0515-4479-b450-fae97f46bf6b CLINVAR:13964 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97d17839-67d3-4055-8c29-82ed630a751a CLINVAR:13964 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2453ba5-8135-4ad8-ab10-fd7600d4e5d6 CLINVAR:44832 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2dc04adf-37fb-4582-956b-e9ccd3bc1f37 CLINVAR:44832 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 13a42205-84d7-4767-b672-4cc65b5d915f CLINVAR:13973 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1502c19c-9d60-455c-bfff-6361793d48f8 CLINVAR:13973 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05c29b17-46eb-493f-8be4-47e1b24692c2 CLINVAR:55793 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1a5d161-d7f8-4157-9a38-cbbd9bcdd697 CLINVAR:55793 biolink:causes MONDO:0020297 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ca10550-fb32-4d76-87d6-ea74231e2cf6 CLINVAR:40349 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbf47383-ec10-4d5c-b49d-ba1df279f2c5 CLINVAR:40349 biolink:associated_with_increased_likelihood_of MONDO:0020297 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4d0e8f25-ae90-4796-9e4b-daf2ff01c443 CLINVAR:44830 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b53c7300-e753-45e3-a0f1-1582e7fcce0a CLINVAR:44830 biolink:associated_with_increased_likelihood_of MONDO:0020297 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 384641f9-7483-4246-b1f9-ee8682623efe CLINVAR:180784 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09cbcacd-07a3-4958-ac5c-28d4bfd0354f CLINVAR:180784 biolink:causes MONDO:0020297 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea115bf4-a7df-478f-9ed5-2e321331adbc CLINVAR:13965 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cda974ba-b202-4677-9c3b-2f51686b6923 CLINVAR:13965 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f98d82cf-ee1c-42d7-bf99-f499de9a141a CLINVAR:40348 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8044d1e0-06dc-453a-9aff-a561aeab2fc6 CLINVAR:40348 biolink:causes MONDO:0020297 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a96d86c-ccc3-4574-8797-1d49cd8135f2 CLINVAR:40347 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eaf6450e-141a-48c9-896d-1864fa3bdfc2 CLINVAR:40347 biolink:causes MONDO:0020297 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6c37b07-7f67-45eb-8e1c-6f7bd0fd355d CLINVAR:40346 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3f91b5b-a5dd-4fe5-9fbb-afecd893ecb0 CLINVAR:40346 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 259c4a5e-fd6b-4431-affd-a2469720ef6a CLINVAR:44829 biolink:is_sequence_variant_of NCBIGene:673 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85e32aaf-9a51-4c47-bc8c-9658ff31af00 CLINVAR:44829 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d6de67d-bcd6-4a48-81ae-33264e34f624 CLINVAR:465208 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f76e7d3-1a85-4eba-b5ad-26820c7144b6 CLINVAR:465208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d3792b1b-b5d3-4876-8b17-258d01472d08 CLINVAR:14209 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d183920-b8b6-466b-b9b0-ee76adc149a7 CLINVAR:14209 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e1799bf-62e9-44ef-ac16-d83208169af2 CLINVAR:487451 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d11887d9-623f-4e2b-a3bf-96ecf497107a CLINVAR:487451 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 39e02fe6-e16a-4021-ac27-87c3521bad13 CLINVAR:553173 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43208aa4-bf4d-4288-a206-1958bcbab06e CLINVAR:553173 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 61ec452e-b298-44b7-8b10-2f78719525f3 CLINVAR:639569 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 771063da-af11-4741-bf3c-4ee22af9f9f6 CLINVAR:639569 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6746aa4b-403e-4209-bc2a-217ba77c561c CLINVAR:1072425 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3826c26-10ed-41d8-8a6f-3bc13858a8d2 CLINVAR:1072425 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6b2c710f-5693-4057-800e-06001b57e7c7 CLINVAR:580378 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca2ba7f5-b3d3-44b0-b7d3-161cc075b7ea CLINVAR:580378 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9222bb9b-6eca-4dec-b73b-907e29cd84fa CLINVAR:632970 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bd4c450-c194-4a38-abc6-fd3137e5e0f2 CLINVAR:632970 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d446c747-954b-4ac1-a57e-6ea89a01f8f1 CLINVAR:633393 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f36cdc8-36eb-4c9e-abb6-4de352d94ce4 CLINVAR:633393 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e616ec25-44aa-44e9-a0d6-70036cf15dc8 CLINVAR:928882 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3da985a-cb0a-40c9-95e3-4f197eb0d954 CLINVAR:928882 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c9feca5b-fb84-45df-afbb-f43cd8b5f486 CLINVAR:379208 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 646cd726-2086-4677-b853-d9a04b80bbd9 CLINVAR:379208 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7aba815c-5b04-4830-9c86-89504c604c88 CLINVAR:14221 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 093b767d-276e-4622-86ed-234f79f74851 CLINVAR:14221 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2d35b61-4bf5-426c-a3a7-60a513bc64d9 CLINVAR:660541 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02a4bcb9-eb8d-4505-9bd0-89be7c68de29 CLINVAR:660541 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 064059b0-5dea-40d9-aa90-282fa5eae5cf CLINVAR:1454754 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd867ce6-90d3-447d-a30d-38f62fc6837c CLINVAR:1454754 biolink:causes MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eae8129e-d233-49f6-be85-334ba5a494be CLINVAR:552734 biolink:is_sequence_variant_of NCBIGene:6023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f58db11-8098-45c1-872d-bba34a15bfb2 CLINVAR:552734 biolink:associated_with_increased_likelihood_of MONDO:0009595 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fc6d9c55-5aea-4aa7-84f3-85a6ca44925f CLINVAR:995600 biolink:is_sequence_variant_of NCBIGene:2022 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d13862e7-e4a1-47a1-96fd-ffcaf0b4280c CLINVAR:995600 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 634cc5b5-fe72-41d8-9503-334e06dae711 CLINVAR:618625 biolink:is_sequence_variant_of NCBIGene:2022 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6f94fc2-91ca-40e6-ac3c-6d937318ed9e CLINVAR:618625 biolink:is_sequence_variant_of NCBIGene:102723566 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ebbd3492-58d2-4b3e-b37d-1b0bc9f3abbe CLINVAR:618625 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 95380b10-84f8-4a94-a16a-4179c92fa545 CLINVAR:995686 biolink:is_sequence_variant_of NCBIGene:2022 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 540d97d3-fd2b-493d-9695-0abf511c7031 CLINVAR:995686 biolink:is_sequence_variant_of NCBIGene:102723566 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6260beb-ef5a-4c61-82e9-64f0de8fd8c1 CLINVAR:995686 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3e4e3544-816f-4aae-8a60-20936a2d2e4b CLINVAR:213212 biolink:is_sequence_variant_of NCBIGene:2022 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35f0a28a-aaad-4e0a-9ca6-c7464923d903 CLINVAR:213212 biolink:is_sequence_variant_of NCBIGene:102723566 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbdea1cb-e135-4edc-8b94-7fa1ef913695 CLINVAR:213212 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e832606-39ba-42f7-91a4-92f2cc676f2e CLINVAR:1466744 biolink:is_sequence_variant_of NCBIGene:2022 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac88c6f5-fa45-486b-9e7e-48e5df1d41cb CLINVAR:1466744 biolink:is_sequence_variant_of NCBIGene:102723566 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e63c7f40-ba4c-4171-a151-8bc784d2a6be CLINVAR:1466744 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5b4596b2-0104-4fe6-a3c7-e2e6bf80fb58 CLINVAR:528065 biolink:is_sequence_variant_of NCBIGene:2022 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46684d90-5972-41a1-9e03-483e1b84db1e CLINVAR:528065 biolink:is_sequence_variant_of NCBIGene:102723566 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd818576-adc3-4b2a-b9b9-1fba073de621 CLINVAR:528065 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 236ead8e-f9a5-4fdb-8630-dbea40df78e3 CLINVAR:982495 biolink:is_sequence_variant_of NCBIGene:2022 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af943bdd-d209-4d46-9753-ceef267850e8 CLINVAR:982495 biolink:is_sequence_variant_of NCBIGene:102723566 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c689ee0-e94c-4078-a7ea-40710500e441 CLINVAR:982495 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b7684a15-65bb-448f-8a69-e2c429e5b677 CLINVAR:430375 biolink:is_sequence_variant_of NCBIGene:2022 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ad4ee02-e002-49ff-8169-53552a46bc85 CLINVAR:430375 biolink:is_sequence_variant_of NCBIGene:102723566 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f03bae3-2f78-4ae6-a055-1665001fd298 CLINVAR:430375 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7ab3602-5af7-4040-8354-df05481c4443 CLINVAR:407115 biolink:is_sequence_variant_of NCBIGene:2022 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 855f9ab7-98ac-45c8-af8a-0803de514a11 CLINVAR:407115 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e66b0a38-f1e7-4254-af11-ebab68223217 CLINVAR:435060 biolink:is_sequence_variant_of NCBIGene:2022 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7754333a-815b-4b3d-834f-48ecff7c5e24 CLINVAR:435060 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 80110444-9f05-4393-bbed-6fcdbdf07034 CLINVAR:237027 biolink:is_sequence_variant_of NCBIGene:2022 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6305cb3b-ba8d-43eb-846d-9c96168160ad CLINVAR:237027 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2611f76c-f8d2-4330-9dd0-cb49975e2843 CLINVAR:458346 biolink:is_sequence_variant_of NCBIGene:2022 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f58abbea-14d0-4089-8118-d568a851d24c CLINVAR:458346 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d35ce6ee-397e-4b25-a18c-6e5d6e70227d CLINVAR:254216 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d34e12d9-2f8a-4191-b21e-215d75c29a2e CLINVAR:254216 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 22fca2d2-e475-4eaf-88ba-dcc4ac936147 CLINVAR:1708141 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c42b8dae-a6f0-4fd2-af7e-7f44707bc5a2 CLINVAR:1708141 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6791010a-9f65-4251-b03a-c4e52c9c104d CLINVAR:4673 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98f220e6-6cb6-4bda-8042-27b7db44ae48 CLINVAR:4673 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88529c3d-8eac-47fb-aa67-f7d440250197 CLINVAR:1322192 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f26a3fc6-24d0-40ce-a384-d324d7b51476 CLINVAR:1322192 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc3e9a69-b9f3-49f1-bb5b-ec1bd9089827 CLINVAR:657472 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3fe295b-5bfa-4d4b-b176-fdc8fc8327e9 CLINVAR:657472 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff967947-b98c-4eab-8470-e73e82bc415d CLINVAR:986350 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2251cc0-6cd1-45a1-a855-3ef4c61cec2e CLINVAR:986350 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 19aaedb0-af8e-44b4-a6ec-b248c3eaf866 CLINVAR:2136850 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f5a3247-5850-47d8-b183-0909dde2a6c7 CLINVAR:2136850 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1faff54-c557-4d7c-9dd2-a5b6632e00af CLINVAR:852821 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef73a7e1-1f5e-4bcd-bc9d-f76ecc3356b0 CLINVAR:852821 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 237080bd-80fd-49c1-a6f3-b1738fe06e5c CLINVAR:1713265 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4431820-0da4-40a0-8592-95e4a7dfc963 CLINVAR:1713265 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ff95ded7-4487-4106-88b4-a8054eae3176 CLINVAR:4665 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0a678fd-177c-471e-ba75-4b620321baa7 CLINVAR:4665 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02a0f7a7-5d5f-4e1c-b3f8-870068fbb023 CLINVAR:802564 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b22677d5-0a1a-4c2a-a64e-52f6c09f2b1e CLINVAR:802564 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 88926121-2200-4049-82ae-f6795c231c7e CLINVAR:254217 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 378b9a47-d783-43cc-b29f-fb19882cfa89 CLINVAR:254217 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eafa11ab-66c2-4698-bb18-77fbb37e6826 CLINVAR:1364174 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d5374d9-b77e-4d22-b283-9cf02039b11d CLINVAR:1364174 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f3194db2-2318-45f4-a943-3d837222be92 CLINVAR:1722324 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e834735-7638-45c4-98d7-095f1abb3a6f CLINVAR:1722324 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ffffa29e-a611-4a78-abbc-28a96537ccec CLINVAR:2118854 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ac02da3-c1c0-4d26-b759-0b0d99eee7e9 CLINVAR:2118854 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d7afe4a6-b5d8-4b79-aef9-2a656fc2edc8 CLINVAR:969751 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c1b2dcf-5397-4499-9f82-d2c518da92fc CLINVAR:969751 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8294786b-3613-48ea-a9f8-6717b0db08c0 CLINVAR:4674 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dfb31ad-e2ff-48a7-b453-5384ca86e071 CLINVAR:4674 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13fe656b-2637-4abb-a078-377e22248623 CLINVAR:1438811 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72f22a0b-37cf-4e9f-a9d0-20d78da05eae CLINVAR:1438811 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f26e4747-3760-4093-9dfe-dcb340cecd3d CLINVAR:2136852 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5efee078-e929-4c0c-9b6d-69c7774b5605 CLINVAR:2136852 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 646df040-38bd-43b5-8b57-57072e737f11 CLINVAR:2136853 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64aa5be9-68fd-4c47-92ca-edaba4e0c033 CLINVAR:2136853 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1e786802-ad74-426a-b153-6298100e6e1f CLINVAR:1069380 biolink:is_sequence_variant_of NCBIGene:64421 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1263df98-119f-404f-b3ea-aa7d832b18a5 CLINVAR:1069380 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ac609a52-e583-4958-9f28-9488684cb0c4 CLINVAR:228491 biolink:is_sequence_variant_of NCBIGene:64072 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf16200d-4375-42d0-89ab-1529df611949 CLINVAR:228491 biolink:is_sequence_variant_of NCBIGene:102723377 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a95c3767-6dfc-44cf-bca0-c2c366041c00 CLINVAR:228491 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a65a97c8-ebdf-4749-8ef0-5d2a32458068 CLINVAR:4928 biolink:is_sequence_variant_of NCBIGene:64072 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ded5ca33-5281-4f31-b3ed-2488b76bfeef CLINVAR:4928 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7ecf9ff-c174-4122-9c4e-91d2312890bc CLINVAR:444219 biolink:is_sequence_variant_of NCBIGene:64072 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22f834d0-a49b-4f23-9b8e-26ca7043c8ee CLINVAR:444219 biolink:causes MONDO:0020678 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b041f6fd-6973-44a6-91cc-8b0ac3224490 CLINVAR:444219 biolink:contributes_to HP:0000374 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 41a7dcd7-3157-49ce-a1b1-de5102cb9a0e CLINVAR:444219 biolink:contributes_to HP:0000407 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 6f48e4bd-d4be-405b-91d2-f924cdea05fc CLINVAR:444219 biolink:contributes_to HP:0001753 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar b8ecc122-b643-4317-a18e-e9678965e803 CLINVAR:444219 biolink:contributes_to HP:0001916 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 1c56bb6b-385d-476e-bdd9-35ad10c1d2fb CLINVAR:444219 biolink:contributes_to HP:0008538 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 3e7fabcb-c5c5-4933-b458-9a96d9301318 CLINVAR:444219 biolink:contributes_to HP:0008553 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 7ae6b1b4-a583-4f54-8d7a-24da15d1c7ae CLINVAR:444219 biolink:contributes_to HP:0008565 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 8c2f1e78-d817-4ed2-9aac-97dbf3bd4c7b CLINVAR:444219 biolink:contributes_to HP:0008576 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 4ab12066-8f13-4bfa-b97a-22d75a9be0fb CLINVAR:444219 biolink:contributes_to HP:0008611 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 544f7a3f-ad40-4541-b6ca-9f373d836d3e CLINVAR:444219 biolink:contributes_to HP:0008613 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 56c5f2e0-e80f-4775-ac2d-82de3997dbe5 CLINVAR:444219 biolink:contributes_to HP:0008614 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 2a027e98-e95f-4ed1-8811-c33ed57d7e93 CLINVAR:446446 biolink:is_sequence_variant_of NCBIGene:64072 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 862bab14-945c-40f9-98b4-ecf5a7479e4f CLINVAR:446446 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfb49f89-73c5-4aa3-9cdb-f2a3e23dbca3 CLINVAR:484600 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36245d3f-e757-4a4c-bcec-01a84979f022 CLINVAR:484600 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 145661d2-be68-4cee-98b9-8fef9b99ab63 CLINVAR:644390 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b1eb073-4a3e-46a6-83e4-2e674385d944 CLINVAR:644390 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24865cc2-5b0c-4945-8009-2347c7bccde7 CLINVAR:7834 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 844b189f-f545-489a-bff7-c25c8de114b9 CLINVAR:7834 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45033082-da24-4e58-9f84-d5cbb3cb8787 CLINVAR:404147 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24cd2976-4601-4e08-b681-299bcd9c584a CLINVAR:404147 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e26d10b4-d89d-4518-b437-3d89eeb4226f CLINVAR:428243 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2f96f0f-ece2-4d2f-9d07-9f4e33c4c1a8 CLINVAR:428243 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 70509926-942a-4ea9-84c9-e8c57f06519f CLINVAR:141654 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b322867-77cb-4fde-bf68-5a7b0831d752 CLINVAR:141654 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel edb1241b-db03-416c-b889-d658993884d7 CLINVAR:428266 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f254495-e4ea-43b3-87ea-c6a90a175671 CLINVAR:428266 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 83c8a902-10b7-4a4d-944e-8778bf7e83ab CLINVAR:233456 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c59ddbc8-7f4c-4244-a9e5-1e060cdedc51 CLINVAR:233456 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 64df438b-3fc8-4491-afe9-9c59fefc64d2 CLINVAR:234830 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae2a43e2-1703-4900-b033-39b4befaee85 CLINVAR:234830 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel db8815b1-0c8f-42cc-9005-710cf49d9e4c CLINVAR:186005 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 231f7155-c4e0-4197-94a9-14879cbe7e1d CLINVAR:186005 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6a7d8b9-ecbd-4cc7-81b6-884ad1d127ea CLINVAR:189462 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c7ade9b-7965-445c-a1f6-d85ca4fa735b CLINVAR:189462 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 081bae88-15c3-44c6-97a5-3c0b27dca5a7 CLINVAR:280724 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00c65a0d-283f-4313-a043-2d87a126e90a CLINVAR:280724 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dc1c2ae5-02f7-4357-8b95-da1dd51960a2 CLINVAR:404160 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fa54baf-046b-4a95-919f-762148cd792e CLINVAR:404160 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ea93fafe-5ad4-4197-a8d0-9aff89669b7e CLINVAR:943637 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1c90794-1398-421e-845f-5120363bcbb2 CLINVAR:943637 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5d115b6c-65c3-4476-964a-1fb7f70d3dd1 CLINVAR:449088 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06c849ff-4094-4cf4-ba39-fda9f2ee01aa CLINVAR:449088 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel da10d6a9-11c6-4309-8d73-3347a57fb73a CLINVAR:822002 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7f6975b-5d84-402c-ab4f-c78ecdcf0bbd CLINVAR:822002 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d67b403b-f61b-4e3f-86a5-1c69a5056c81 CLINVAR:231916 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6be666f-5afe-4c2b-9145-77fabf64058c CLINVAR:231916 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13940962-0629-4283-98cb-2c02ea81cd81 CLINVAR:7825 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 836df6ae-f215-4edd-816b-c28ca08f5b81 CLINVAR:7825 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52a13cec-cacf-42cb-b0a6-e57788f022e7 CLINVAR:1334551 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d20443c7-a63d-4099-9db4-2292537144da CLINVAR:1334551 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 32c6d560-9e42-4ab2-9afe-0580c8f0ec0a CLINVAR:189400 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef5338cb-4e0a-4324-93b1-b95236afadbf CLINVAR:189400 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9e196cec-cc78-41cb-82e0-2d1785e13e47 CLINVAR:486972 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47b8e016-d4ec-4495-96d2-2efcb2e29da4 CLINVAR:486972 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7a8bc87-89f9-4872-b8d1-60167608d29a CLINVAR:818421 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b537c6f-1eb5-46d7-89ff-84094e8ec87a CLINVAR:818421 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f03d742-6b6d-4259-8397-e6dfdf6886fa CLINVAR:189401 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80df9fd8-dbc4-4c98-a6b1-976bcce05c17 CLINVAR:189401 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22224c41-facf-4e9a-acf2-f662e5a5ab29 CLINVAR:373446 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69e92e7f-84f2-46c5-91cd-55aead6497f3 CLINVAR:373446 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 148521ec-7472-4907-81d4-f50d94dfe8b9 CLINVAR:492727 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37c78664-d745-4ad7-945f-d306dfe51fe9 CLINVAR:492727 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a865923e-a102-4691-9914-6f2e70c1fa3d CLINVAR:640550 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44a921fd-3ae0-489e-bbfa-b416276c0117 CLINVAR:640550 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bfd55c35-fe7a-4128-8d67-557aa1ab0f71 CLINVAR:187590 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a25039d4-e27b-4c30-9e75-837ff2e0b8ff CLINVAR:187590 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7b270321-ce19-41af-a14c-0d8c3d472a62 CLINVAR:427613 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 562e9823-eb1d-4278-a3fb-5de25d190e68 CLINVAR:427613 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a89c5fa4-f45f-4cf9-96aa-da4b7e5003e2 CLINVAR:185713 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c51ea22-f80d-4029-adfd-d41c97c6b340 CLINVAR:185713 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5c8cdeb-e264-4451-8fd1-02101f9e95ec CLINVAR:7841 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b559636-b937-49a7-97a1-ac6c9b978c36 CLINVAR:7841 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6c2bac2e-d0b2-42d3-b5e9-c7f73898e1b0 CLINVAR:189402 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8529cc3-8ca1-4d0c-8b7a-e2c187808b2f CLINVAR:189402 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d774ba51-0ce6-4958-a8f9-b330faee475e CLINVAR:237643 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1350eb51-0c3a-4ce8-82b5-dc540961f2a7 CLINVAR:237643 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0bcd8a73-cccc-4019-b82c-cf2b985905dd CLINVAR:1691744 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca546f4f-00e5-4b17-b831-7ce61d72b208 CLINVAR:1691744 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1f554c13-6a34-4fb8-9876-df035700b42f CLINVAR:7826 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8548c7b8-257a-4769-beb8-c771e352a020 CLINVAR:7826 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b102cfdb-5318-4afe-9041-761704a5d71b CLINVAR:92816 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 173fd63c-738e-49ec-9ad2-63b4afb34886 CLINVAR:92816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15835679-f5a2-4c44-8c4a-fedb01775828 CLINVAR:1182096 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9cbbe4f-2b23-4712-b208-c3da70636adf CLINVAR:1182096 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed062aea-686d-4d21-b1ae-195e860b1322 CLINVAR:427615 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c927bcae-b0f1-4368-8f13-929e08adc85b CLINVAR:427615 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a38c36ef-e984-4bf2-bf93-5ec15eb544b9 CLINVAR:936561 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbf96392-983a-401d-b8c0-6b171ee7ee56 CLINVAR:936561 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2d8b10a-7908-46ce-9538-df558dcc7265 CLINVAR:428271 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2de9b11-e985-49bd-91de-3562cecc710d CLINVAR:428271 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8515205b-d223-4df1-8d2c-a4825e059a2f CLINVAR:468680 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ef8a2e2-a905-4d6c-93a9-0212ab403e71 CLINVAR:468680 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6d675643-1273-4b98-b671-4ff83c33480f CLINVAR:7848 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe06e5f8-661a-42aa-b6bc-1ee514ffbd96 CLINVAR:7848 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a53db105-91ef-426e-ab4b-69ebfe045a34 CLINVAR:189403 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fe2bf21-1d41-4840-a2a7-54e09ce78052 CLINVAR:189403 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf18377a-c29f-4529-86df-0ede42373e74 CLINVAR:449089 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c57ad69-311a-4b8a-b3b4-1b2e57b7cc65 CLINVAR:449089 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d01a4241-1597-43d9-a6a8-9a59462f521c CLINVAR:142261 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a80057f4-c080-44c4-9c14-5f06c79603b9 CLINVAR:142261 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af93f7d3-bc4d-4714-9ea6-c95e5475c458 CLINVAR:484614 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff29f990-7b93-4373-964f-21e0a1e2c91e CLINVAR:484614 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8959e3cc-e045-4c99-9ef3-a88598a0c9e3 CLINVAR:372481 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13aee526-6283-49b6-bad2-cc53ae54e9bb CLINVAR:372481 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 984c13aa-932a-495c-9d5a-e1499cd3ec3e CLINVAR:92820 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4923f191-fb63-428e-b8bf-866d3d7af909 CLINVAR:92820 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0aa25982-e039-4518-89c4-5d5e391528a1 CLINVAR:1406308 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e032a7d9-f777-4860-ac5f-46b621387dc1 CLINVAR:1406308 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1ca83027-726f-4204-88ed-5c89248fb6e4 CLINVAR:428193 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 067aafa2-f0bf-4949-81e4-ce5acd236f3f CLINVAR:428193 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5bf745b6-977d-496a-9729-4d50f8ab796c CLINVAR:3256748 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e050d7a-789d-4402-95b5-f4a8d249dc57 CLINVAR:3256748 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d4d4e612-57b4-4ccd-943e-0042132518bd CLINVAR:428277 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9066587-529e-4e4b-89c1-5af998620b90 CLINVAR:428277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b6668012-c8be-4c71-9367-950cbe6e4a63 CLINVAR:7816 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17bfcf2d-c1d3-4f65-b58f-909be1abd9d9 CLINVAR:7816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c15fa24c-6631-4f07-b0fd-abc9f8c9f9a6 CLINVAR:7817 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52570bde-c314-40da-8c9d-6d9e50a74e31 CLINVAR:7817 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44c5fe77-3885-4ee0-a4cb-95fa3b30e7eb CLINVAR:1338262 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cce69a1c-52d7-4f4a-b8ff-9bb1c68bf5bd CLINVAR:1338262 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6dde14ef-1287-4698-a838-4d2491cf8706 CLINVAR:375958 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a0863ac-22cb-4528-a3cd-db7b462f9aeb CLINVAR:375958 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cbc0277b-c718-4e72-b1b9-1ecf4d96fabf CLINVAR:7829 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e819c889-e89c-4efc-b5d8-3829ebf1ec2b CLINVAR:7829 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6764047f-f0a5-486a-bd4b-20a969a57cd6 CLINVAR:142018 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79405ac5-cc37-4087-8584-7108303b9379 CLINVAR:142018 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8394f9c1-473f-460b-98da-412a89557071 CLINVAR:39669 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22a18542-4fef-4262-a81e-6543f80e9cad CLINVAR:39669 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aac00f4b-6a1b-4d3e-835f-27fa66827f4b CLINVAR:92822 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95e093e5-f342-4be2-9c1a-4c140d9e62b0 CLINVAR:92822 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec9f0c7e-52aa-411b-acca-3f5e351e629d CLINVAR:619908 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff14ed1d-bfe6-4a0e-bb90-ae4983b32f5b CLINVAR:619908 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 36b5ef0a-237a-4862-9bdd-a99ebef23226 CLINVAR:189406 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adcef6ec-f9da-4afb-b20e-90ea4ab1dd08 CLINVAR:189406 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5170a8f-c858-452a-bb32-d393d5e05e3b CLINVAR:224543 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35ce4e61-9ba1-4326-9900-881c1f620351 CLINVAR:224543 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12b1d37f-ecc5-4708-a1c2-c10e42dfa543 CLINVAR:216422 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a60a2079-9d65-4000-bc30-0d556bcdb14b CLINVAR:216422 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 092fb2c9-091b-46b8-9500-e838ebc6434c CLINVAR:428216 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe288d57-7265-44ec-b0f8-1966b4d94843 CLINVAR:428216 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aa87bb54-5971-4e66-a690-207a16f7048a CLINVAR:404168 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1023117-52e3-4e22-8d88-9ebfb5a6408a CLINVAR:404168 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1173b719-cc59-42a1-bddf-1b56d19198f4 CLINVAR:7814 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3fed3ab7-22b9-47ba-8b43-dc3ff7f6a8c6 CLINVAR:7814 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04650ecd-27a7-491a-9b1d-0bb5e17e3f2e CLINVAR:646006 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d1b6987-10a2-44bb-be97-6d2fdb2a2305 CLINVAR:646006 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ddf777b-c497-4ccb-b164-4cbabd13c442 CLINVAR:375959 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f794ae89-4d95-4e90-bdf3-eb37d58022a2 CLINVAR:375959 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 96db2925-b377-4ded-bb3d-961757291811 CLINVAR:427619 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b35a8147-14ca-496a-bf4a-0e8abf274865 CLINVAR:427619 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32cd324b-68c9-4e46-86ee-11306de96b99 CLINVAR:7821 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b5718b5-5573-445c-a764-7cd99612dc85 CLINVAR:7821 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f33ead42-64ae-4edb-a69f-57f5dec3e343 CLINVAR:141485 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c13672a-a7cc-4a99-acd1-8837f8875e1b CLINVAR:141485 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 834d66da-4993-4856-997c-c17ea2a4b1ec CLINVAR:428256 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15b8d6ba-daa6-45ef-8521-89b75a87280e CLINVAR:428256 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ad746fe-5f83-4097-ad76-88cd933e78b7 CLINVAR:39668 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10631a90-34b4-4665-8f26-af6c518954a9 CLINVAR:39668 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4de9468d-54b7-4f91-8f53-fedd4d689e5d CLINVAR:7843 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8cd98a0-3925-41cd-80b0-5d7105e57e3e CLINVAR:7843 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b290bee-a3e4-4b2a-adbb-d24786f2e82e CLINVAR:7815 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f76f32a-3565-4468-bc04-579dd287052e CLINVAR:7815 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aaaf5328-ca16-4a11-8d54-c06518eb192d CLINVAR:428206 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3901ec0c-0ab4-4c9a-bd25-ac04d96baa54 CLINVAR:428206 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89f9bd44-c563-4320-8882-328b633b300e CLINVAR:844941 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8541e93-913b-45f4-9138-9b295dffb4bc CLINVAR:844941 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e5d71ea6-cc74-4dfb-951f-d2dd32d43359 CLINVAR:189411 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72c85182-fe01-4d1b-a180-9ddab90706a6 CLINVAR:189411 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f6ba78d-a0f2-4472-b7b7-dc08d8d3a4e9 CLINVAR:189412 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fcc22c0-48de-435c-a779-8945bff0afc0 CLINVAR:189412 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 159dd188-0497-41f5-95a7-373f73fa251b CLINVAR:189500 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8a10232-f326-4221-80fc-dcc2b57504cb CLINVAR:189500 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eda206cd-93c9-4b2b-a5a6-e1e0161e8a14 CLINVAR:142220 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f93e222e-9f46-4bb3-8d23-6a9205969395 CLINVAR:142220 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d2c9230f-dd39-4f8f-93e9-c31b0732e205 CLINVAR:220007 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fbe5e06-9327-477f-a19e-cac97fdde147 CLINVAR:220007 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1bf50689-41aa-4905-9932-d7de599b7469 CLINVAR:135910 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a780ec4d-8f1c-4809-b8c4-ca760983cab7 CLINVAR:135910 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 56363c87-80c4-4873-8aed-e87f01c0417f CLINVAR:580948 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 770a9baf-17a5-4168-bf96-effd340fe25f CLINVAR:580948 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7eb0dfdf-928a-4e9a-b3d4-e6b3cb0923fa CLINVAR:7824 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aed50001-a9dd-4372-a4da-74f887ea986a CLINVAR:7824 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c7af90b-58e1-4e53-ba7f-2ddf54fe90bb CLINVAR:825730 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2bdf12d0-e766-4125-a41f-76d166384270 CLINVAR:825730 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c846151b-5c55-4edd-9240-d1de7623c685 CLINVAR:7831 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd17030c-0c7f-4043-a398-04d80c7b5a94 CLINVAR:7831 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fa0c27e6-d309-44dc-9836-2afd1ba7965c CLINVAR:7823 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ee8089c-d7ed-49e0-abc7-e29043767b34 CLINVAR:7823 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb5d4f2e-373f-4497-86a0-d5e7e4fedf79 CLINVAR:189414 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab6cebec-d1d8-4227-ae74-837c0f97e73c CLINVAR:189414 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ecc0361c-b5a4-4c06-89ae-7ebc2fe460f4 CLINVAR:189415 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a42d47a8-18c5-4319-8cb6-5d729c5d28f4 CLINVAR:189415 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2e8dc80-577f-4810-aaae-e5ffaba7943b CLINVAR:279878 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3dfd452-72e9-49b0-8524-55b792c1a7b9 CLINVAR:279878 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0608fac2-ef5b-4aa6-b626-e7442c4fd596 CLINVAR:427621 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d56d1d6c-ff8b-45df-9975-7955424b4c88 CLINVAR:427621 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1465faf2-b846-4ffe-96d3-3f9371b6332d CLINVAR:280031 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3b82bf8-d5c4-4bf2-9a82-0912592b11a1 CLINVAR:280031 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c58b433-1897-4ec3-b629-6f487022af5b CLINVAR:427623 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31214643-bd14-47f3-b77b-74790db9efd8 CLINVAR:427623 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1efc810-41fe-4317-9ddd-f5ac6a60fa86 CLINVAR:427599 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01f734bf-e9a0-41e7-be69-a7125f993171 CLINVAR:427599 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3eee0ffb-10e1-4b33-bf11-bb519bdaf42b CLINVAR:7822 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a941d92-63ad-4ae8-b3b2-86be282ecf33 CLINVAR:7822 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 78373e12-c947-49a6-814b-e2cd8a40f2cf CLINVAR:7850 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffffc53d-8585-420a-a93d-660eca2ef68e CLINVAR:7850 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2db430b4-a818-47b4-b4c4-4b6154454429 CLINVAR:142269 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1defc3ff-7018-4789-966d-5a95264e6754 CLINVAR:142269 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc9d7681-05af-4dde-9155-1daa03f9b295 CLINVAR:223142 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81cc681a-4816-435a-853e-91d240e02e95 CLINVAR:223142 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a1296315-84e7-4fd1-9db0-2286e1d6c3a5 CLINVAR:536548 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6095aa47-e816-4f1a-a74e-5063289d0b87 CLINVAR:536548 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 402418e3-d500-4710-9e8e-b3dcaa389f49 CLINVAR:7849 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a0da84f-0bca-4c64-8d8e-adf8dc30e2f8 CLINVAR:7849 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 126ebf01-a084-4edc-baeb-bc772ad33697 CLINVAR:7830 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar daf3179a-20a4-45c9-ae4e-be9f6d461ce6 CLINVAR:7830 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b25a27ab-277c-4be7-aa17-a8f7b08a39fd CLINVAR:7828 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e041efe-956c-490b-886e-5a3fa10322ef CLINVAR:7828 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a028df6a-732b-4599-8ccc-05e8bfd0e592 CLINVAR:404140 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df113b07-d2bb-4170-b254-51077c76cd1d CLINVAR:404140 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9d27a57-40b2-40b3-b752-3560c432504a CLINVAR:536549 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6e680ab-031e-46ab-96f0-2286cfc0c31f CLINVAR:536549 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fa96ca8-bd7d-4692-99e6-381304fc9db6 CLINVAR:301423 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1540d892-5224-4e47-bc45-d95b686eb752 CLINVAR:301423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 293d6a19-e6cb-477f-9ab2-6c16ea4b3647 CLINVAR:142423 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6082be32-d5f9-4f8d-9a67-2f6d957643ba CLINVAR:142423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd21c31f-6037-41a5-992d-6bc64df73084 CLINVAR:7839 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57cd547c-2709-481e-bd6b-419b16bbb3d5 CLINVAR:7839 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 28cf6d20-fa2a-4f5f-9c6b-ed0c9354281d CLINVAR:428268 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f5a560d-fa4e-43ac-95a0-75b61557934a CLINVAR:428268 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 330ad664-0c35-4d8e-af78-56b154334aef CLINVAR:184277 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ad49a31-c127-49e7-b012-7133f7d03013 CLINVAR:184277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e818946-44dd-499d-9359-0433b1ffe700 CLINVAR:428274 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83092351-3958-4f97-9103-72a60a7ab897 CLINVAR:428274 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5e63036c-f05c-4419-89e9-95fc09e75c36 CLINVAR:187657 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb7e938f-1b74-4b19-acc7-f4e9eded6408 CLINVAR:187657 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7103e09-cf38-4052-9b7e-f951aacbdbf2 CLINVAR:418653 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b67c277-9d81-4268-816f-e4832c6ffa54 CLINVAR:418653 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 334b951d-854d-4e6e-9cec-a53d1c4474ed CLINVAR:1043063 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0adec590-4e04-4c28-8ec3-19104beea8f1 CLINVAR:1043063 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cc11bf8e-0722-4d5c-8296-7c9acdbe2f7f CLINVAR:185213 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fa42054-f01f-4a4d-8a22-2c65c6e25344 CLINVAR:185213 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 48403f46-62e7-4b1d-ba02-080146c30ad3 CLINVAR:189441 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ee9f89a-8145-4a89-98d8-2ed22a43a628 CLINVAR:189441 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58ab52b1-37b6-4fae-86b1-3349efdd5723 CLINVAR:183722 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bce2efe2-d3df-483a-9e85-573598dbb69f CLINVAR:183722 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f451e36-d08f-40ad-b4ae-3d808242dcc0 CLINVAR:2447222 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9732699-0324-459f-ad8c-395a70ebca4b CLINVAR:2447222 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 68a79720-64e0-4033-824c-9ca7e088c28e CLINVAR:372482 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4880eeeb-6510-4d27-8034-113259614fb6 CLINVAR:372482 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3936c18b-befb-4341-b566-6de190dea96b CLINVAR:484605 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 182ec9b5-a4ce-42b8-a437-ff3b11f928d2 CLINVAR:484605 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1abdfb2-2568-4301-8eef-0b371a19b4fe CLINVAR:428265 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2edfb52a-d9c9-413a-99a5-ce1369e485ef CLINVAR:428265 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3ace7327-4ce6-4c13-9c4a-dab1fa3f987d CLINVAR:234144 biolink:is_sequence_variant_of NCBIGene:5728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d1fd402-2ad4-4f3a-80f6-bf4444c87c17 CLINVAR:234144 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ed56da7-ea8a-4559-bfc7-40d76baaf3c2 CLINVAR:6821 biolink:is_sequence_variant_of NCBIGene:8036 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 803bf42b-8413-4fa2-b742-f61523f2e72c CLINVAR:6821 biolink:causes MONDO:0054637 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03118cfe-dbfa-4f95-bf1a-d6f8d6351c13 CLINVAR:181528 biolink:is_sequence_variant_of NCBIGene:8036 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 351c8ec5-71a9-4df2-a312-d57391cd6494 CLINVAR:181528 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0498e9f-bc42-48e1-be14-81306c819f82 CLINVAR:12605 biolink:is_sequence_variant_of NCBIGene:3265 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19e903fb-9ade-49eb-b249-6c15445e9a84 CLINVAR:12605 biolink:is_sequence_variant_of NCBIGene:115399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d9dd9ea-246e-4e3d-8666-38462561bb3a CLINVAR:12605 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 014e9f82-5053-4872-b98f-6e68d689679f CLINVAR:40435 biolink:is_sequence_variant_of NCBIGene:3265 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d460bb7e-94e9-4d2b-ba26-6c19cc888661 CLINVAR:40435 biolink:is_sequence_variant_of NCBIGene:115399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba2bc5a7-7215-43f1-ab4d-50da6740cbfe CLINVAR:40435 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c65cfa10-b62f-4a9b-9c98-1300cba0c608 CLINVAR:12610 biolink:is_sequence_variant_of NCBIGene:3265 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36eb5cb8-2cf2-40e2-9eeb-9a142f9369e9 CLINVAR:12610 biolink:is_sequence_variant_of NCBIGene:115399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c73112e9-87e7-4bc1-af48-a6730414e177 CLINVAR:12610 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20066329-5d16-4c47-a12f-2542bb1890a6 CLINVAR:12606 biolink:is_sequence_variant_of NCBIGene:3265 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f2a6011-1a78-4385-b6bf-c098e4ed295a CLINVAR:12606 biolink:is_sequence_variant_of NCBIGene:115399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19d92519-9c07-46e1-913f-b117852f174e CLINVAR:12606 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c9fb63c-0f94-4d33-bf8d-dd212a0afa16 CLINVAR:12602 biolink:is_sequence_variant_of NCBIGene:3265 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0bdf4750-e427-446d-996d-c0ab4fcabad3 CLINVAR:12602 biolink:is_sequence_variant_of NCBIGene:115399 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9db1cac-504f-4574-8fe6-c71ad1c844d5 CLINVAR:12602 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f46987f-7ec9-4345-bda0-f2e1c8354091 CLINVAR:200874 biolink:is_sequence_variant_of NCBIGene:3784 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd73d11e-624e-4236-a9ca-2522c8834147 CLINVAR:200874 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 829e97f9-ef48-486f-bb1a-37ee298ce5f5 CLINVAR:53047 biolink:is_sequence_variant_of NCBIGene:3784 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e34233b-2012-43d9-8663-19aa717735c1 CLINVAR:53047 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 80a06a12-834a-4b56-9e11-b35393eaa7bd CLINVAR:53083 biolink:is_sequence_variant_of NCBIGene:3784 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13445b91-db85-48e8-bc6d-b97afbf8621a CLINVAR:53083 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5aef9793-82ec-49bb-a7e5-e19292062607 CLINVAR:3118 biolink:is_sequence_variant_of NCBIGene:3784 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6793f170-2ae7-4a5b-838e-28d381560aa2 CLINVAR:3118 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2b5193e-ef2b-4807-a630-9fad2ff500f2 CLINVAR:3119 biolink:is_sequence_variant_of NCBIGene:3784 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a3c5538-8e13-458d-8fae-0ab60bccb798 CLINVAR:3119 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dab005c8-4234-4caa-8165-c0c0a6b06c67 CLINVAR:3135 biolink:is_sequence_variant_of NCBIGene:3784 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e614165f-785f-446a-9d2a-3a5de01ddf93 CLINVAR:3135 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78bee939-6b42-47a8-924b-d9b44fdbabbf CLINVAR:52955 biolink:is_sequence_variant_of NCBIGene:3784 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ebe4ecf-8e07-4fae-8bfb-95f33acf168e CLINVAR:52955 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel da91daba-3b8b-48cf-bbe4-c56c5fad09c6 CLINVAR:3131 biolink:is_sequence_variant_of NCBIGene:3784 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2aa17db-6ed4-4629-a89a-c33413593df7 CLINVAR:3131 biolink:associated_with_increased_likelihood_of MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9dc67814-a0d6-4045-bc8c-a5e3e6f02d5c CLINVAR:3140 biolink:is_sequence_variant_of NCBIGene:3784 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f4f25a0-a858-4ec3-9e47-e76ab45b491c CLINVAR:3140 biolink:causes MONDO:0100316 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7830425c-db74-419a-ba34-ea616c46714b CLINVAR:9447 biolink:is_sequence_variant_of NCBIGene:22800 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8761d4f-757f-4787-929d-02868c09c6df CLINVAR:9447 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f801b598-7ed7-45e8-b569-69f4b8b0d4f4 CLINVAR:626912 biolink:is_sequence_variant_of NCBIGene:22800 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40c8fd10-b40a-46ed-ab54-e5d4ca3ec488 CLINVAR:626912 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d7915f4f-3cfe-455a-be5f-6878c96b4c02 CLINVAR:96685 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53a93029-50fc-4411-afcf-f7e2c2df4101 CLINVAR:96685 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aeebd1e3-ca33-40e9-b809-6006d3b8e053 CLINVAR:288833 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4acc2cb-925e-4436-b3ad-32a7113a77a4 CLINVAR:288833 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f037134-68cc-472e-b13d-ce19d325ff3c CLINVAR:468825 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f437c661-3c4a-41f2-94c5-3ab06ed93c18 CLINVAR:468825 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fb27e33-8cea-40f8-984b-0cfdfca81ebb CLINVAR:197402 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4846984-fb6b-410e-8ec6-80d3bf1fafe5 CLINVAR:197402 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b33ca8f-da32-4137-b525-4cfecc81ce72 CLINVAR:2164 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1d8fa1f-22c9-46ee-89bb-39642af9bea0 CLINVAR:2164 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 80097400-b1b2-4a1a-aaab-22284620974b CLINVAR:96679 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 255d9afc-4233-4c0e-b34d-9023b8247e1c CLINVAR:96679 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 513ad6b6-de5b-49f7-bd7e-c6fe1a97aa54 CLINVAR:280322 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0b38076-34c6-4a77-9407-632d05344349 CLINVAR:280322 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a67d39a-f163-438a-ba23-641351b1b0dd CLINVAR:2165 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46a18372-82a6-4ece-bc4d-603cff383545 CLINVAR:2165 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e157a3df-3b16-4c46-a7fa-6f925b49485e CLINVAR:96688 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96a5666a-050f-480e-9f8a-8cc4ae3fb5e4 CLINVAR:96688 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2602443-e3f0-4d77-ae0b-a0a41867329f CLINVAR:2163 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b73a4bce-55e7-4815-a96d-82f95eeee6b0 CLINVAR:2163 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be9a4b28-392e-4e01-9ce0-5d7854dc5e06 CLINVAR:140553 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 026e5637-c675-47b9-a5dd-be1eff615425 CLINVAR:140553 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0cee0208-3715-4bca-ba33-91ba29d7e66c CLINVAR:194805 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 620928e6-d80c-48ab-a291-5fa6cd2ef6f1 CLINVAR:194805 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31bbf94c-0cb5-4113-96db-c0f168b10986 CLINVAR:140555 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48a2d861-aed8-4a37-98af-46cbf54641fe CLINVAR:140555 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef31cf04-be95-4d9b-b917-fcf04a3a13c4 CLINVAR:2166 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38670637-ce79-4a48-ba8d-c3954e949ea5 CLINVAR:2166 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41b11d3b-b0d4-4349-a680-6f1d712591ce CLINVAR:195634 biolink:is_sequence_variant_of NCBIGene:203859 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53bab383-c2be-4bf6-996b-e611acaf7ac6 CLINVAR:195634 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a1846690-ffd7-491b-8fd9-b3fe5e792bc9 CLINVAR:285045 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3756c738-9bc2-4a0d-8c21-2d2ca8f43407 CLINVAR:285045 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e481d52f-8c0e-49bc-aa4f-073af3cc89cb CLINVAR:36714 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1098e448-807b-48bd-a559-6e1783eb5d1c CLINVAR:36714 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8023c066-a783-4158-804c-a4aa350309f4 CLINVAR:626157 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e34d10e3-3ac8-4493-981c-e592967ba533 CLINVAR:626157 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38760461-8eef-499b-8119-9174d96061ae CLINVAR:2943710 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71340787-2487-44ab-aa52-a65118194f84 CLINVAR:2943710 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97c0dea1-f545-4809-93ca-720f1e7bdb89 CLINVAR:235411 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e05e6832-de4e-4884-984e-8894e0286fa7 CLINVAR:235411 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8da5ffc-b37d-45cf-beff-e10191faa3d4 CLINVAR:449383 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a40960c-d3dc-4ee1-9b85-7216401af45b CLINVAR:449383 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b579577-6f29-47d2-a58e-a2b4a3652063 CLINVAR:13146 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d715980-dbad-4a97-8a17-76558c771668 CLINVAR:13146 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 277f30bb-618f-4f69-8423-ee5b593a9ab5 CLINVAR:1072413 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbfdb5b1-b950-490d-bbfa-c675fcfdf690 CLINVAR:1072413 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfad5d26-b755-4b07-858d-186b8595ab47 CLINVAR:68681 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a735385c-116f-434c-ad35-3d319941218c CLINVAR:68681 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3358201f-c548-4ccd-b0bd-c5295c7404c0 CLINVAR:13148 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40046739-34f5-4627-b50f-e32b7d98cb90 CLINVAR:13148 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0cbf5ccc-0291-4216-9ca2-abf8ec009ee0 CLINVAR:68689 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bdaddf29-08f8-4dae-989c-fbdcf739d4e3 CLINVAR:68689 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a8b93107-cebc-4f5d-aca4-ca49e603e8da CLINVAR:418448 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4325d4d3-e7e5-4445-bd6c-586e079a66dd CLINVAR:418448 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 032a290f-68cc-4dd0-b328-951e74632f72 CLINVAR:1034220 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fd6b81b-d27b-43d4-981c-020ae79ba3ee CLINVAR:1034220 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 630f2cd7-568d-421e-bc90-aad67949a2f1 CLINVAR:488725 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 294e6b2e-62e1-4bd6-b717-596728a9dd75 CLINVAR:488725 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0814c8d1-bf51-41a6-a0fb-27fe23d9c6e2 CLINVAR:13141 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98341286-49ef-4c2c-b4c0-b3a1df926d80 CLINVAR:13141 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 43e94939-e950-4432-98c5-4e3b66305f33 CLINVAR:967900 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f7aca1b-80dd-4094-9ad9-d90a1942aac0 CLINVAR:967900 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92c4e613-d845-465b-b049-d31a60c0279a CLINVAR:4845208 biolink:is_sequence_variant_of NCBIGene:5896 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92a6e014-112e-4267-bef0-43233ea743ae CLINVAR:4845208 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3cef8a06-537f-4d85-8363-b57bf24e99c2 CLINVAR:650904 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ea269d7-7df8-4e14-bcb6-24ba0b96ba7c CLINVAR:650904 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2f6cba41-6966-43cc-ab54-161330127eab CLINVAR:496630 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eba6fef9-564a-44e7-b316-f7e09c4551e5 CLINVAR:496630 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2a254200-a0c3-4803-a289-88ffa8cc2e99 CLINVAR:13138 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29933bcd-a181-4ed3-92b6-61d4a9c42312 CLINVAR:13138 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e133c15-8c8a-4f57-b3a1-71c2068f27d5 CLINVAR:496629 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfa799c6-e90e-40fc-a6a7-df41e3ca1563 CLINVAR:496629 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eee4b123-5345-46b6-b944-7aa238468087 CLINVAR:496628 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 734636d8-b8fe-4a0d-9162-d42308433c5a CLINVAR:496628 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dc2a32f3-f213-4b6e-b700-229fb8a865fe CLINVAR:36718 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d783a32-d927-4b1d-b8d8-0f5c455f56e2 CLINVAR:36718 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9f739409-1935-40a8-8fe6-9fd6e1753078 CLINVAR:36717 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60aa79ae-7692-4e8b-8ff4-a10f914ec622 CLINVAR:36717 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 42e73355-9281-4724-a3ce-d45f75bb927c CLINVAR:500475 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb2ec264-c112-4eb8-9953-2654624335ab CLINVAR:500475 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 39613bcc-0ec0-4904-8789-4742d9aecd14 CLINVAR:1075544 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ff5f6c8-db4d-4a79-970e-501bf400d5af CLINVAR:1075544 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 805aab44-56e9-443e-a23e-28911af903e7 CLINVAR:13130 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61616308-1d2d-4ea6-8717-8c08148bac54 CLINVAR:13130 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed4e9422-7252-4c49-8b79-d58f639bbff1 CLINVAR:496624 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0daaf63f-4250-48e1-897b-d00f46a4f045 CLINVAR:496624 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 455428de-57ce-48ab-b680-a03368f651da CLINVAR:13133 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6067492a-f515-4221-ae35-36b91add86c6 CLINVAR:13133 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1a5a2c71-7e5d-4df8-916f-aa9fbd075965 CLINVAR:36719 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e55bcd3d-8a01-4839-9459-fec8c3b6b5ab CLINVAR:36719 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b6f6957f-a313-4c4c-8099-d409849ec59a CLINVAR:427020 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d1a15fc-965c-4741-9ae1-4a8ac8ddc42b CLINVAR:427020 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cbc1d85e-2e7d-440d-9e63-5c528d6478c9 CLINVAR:1412375 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 986dceff-55f0-44f8-8d26-a044417e4451 CLINVAR:1412375 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0d4f12a-0b69-40f3-bca9-c5c2566a4a9a CLINVAR:13136 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c7a220c-a1af-47d1-9d66-a003a1638efc CLINVAR:13136 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7ab3792-57db-4e15-957a-11a630800efc CLINVAR:36716 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 024d09b9-ad64-457b-898a-ebb93b1c15ab CLINVAR:36716 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63b5d779-0014-4bb0-a46b-db266ec8b778 CLINVAR:2019436 biolink:is_sequence_variant_of NCBIGene:5897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e43827d-db35-446b-99e6-aa92de48139a CLINVAR:2019436 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 77efa327-59fa-46a1-a578-9149b32c90e8 CLINVAR:42541 biolink:is_sequence_variant_of NCBIGene:4607 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92d3338a-1637-44dc-9f0a-7bcc33ed598d CLINVAR:42541 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf4cb414-4f51-47f2-83d9-7b020dcfd02e CLINVAR:42541 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 2ecdad6d-4389-424c-aaa2-4bae78d1666a CLINVAR:164113 biolink:is_sequence_variant_of NCBIGene:4607 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8ffec15-80cc-452e-85bf-feea55ac2aec CLINVAR:164113 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 555060c3-a87f-4c4c-b58d-ce7efa5a6ab9 CLINVAR:164113 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar d449600e-9238-44e5-b84d-4afb0b2074ad CLINVAR:164114 biolink:is_sequence_variant_of NCBIGene:4607 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03501c09-2291-4e6a-9f65-e2e51179c486 CLINVAR:164114 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dcca4650-0456-428e-abde-b05ff71b607e CLINVAR:164114 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 8eaf6739-2bc2-42e8-a539-c64fbdb37866 CLINVAR:42537 biolink:is_sequence_variant_of NCBIGene:4607 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae4dedd3-3dbe-49a8-a9fd-f3a4de22e2a0 CLINVAR:42537 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 629c1712-e307-478f-b83a-4457d518dce6 CLINVAR:42537 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 332d1fd7-dfbe-4539-b57a-caecb6ea7474 CLINVAR:164656 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb1de3dc-2205-4e90-9ab3-13c9a2181c25 CLINVAR:164656 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1ad5a2a7-1c77-4df7-b5bf-cbfad2379bb2 CLINVAR:43230 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c747054-be5e-45d4-a9c5-2e8ce218fce9 CLINVAR:43230 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a020f836-9b7c-4297-bf59-7f52f3ccfcba CLINVAR:43325 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70648b84-c14d-4449-8bab-5e61cd3e66c8 CLINVAR:43325 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4034cc3-2b89-4814-b27d-516cb25075e2 CLINVAR:164664 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8edb269-4646-4a02-8d8e-f5a7817ba3c0 CLINVAR:164664 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6e81a05d-743c-4e72-acc4-7f460619d74d CLINVAR:555138 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2389ce85-519c-499e-a9fd-ed82999030d7 CLINVAR:555138 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cc164abe-f6f8-4ac2-85fe-e49389293d80 CLINVAR:178667 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89268bc7-e1dd-4a34-8011-1eadf378187e CLINVAR:178667 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 27f79c78-0fa3-4a54-a9fa-4af722dea50e CLINVAR:438172 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6498c2ef-8f16-4ea3-894f-9abae2874afa CLINVAR:438172 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e26db03e-d33d-4b58-8fdc-2e5531d3f240 CLINVAR:43186 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f8cb491-c301-4af9-bc95-0d6a3899948b CLINVAR:43186 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 58c9423d-d15d-4f08-9c04-d7c00abd86d5 CLINVAR:43196 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ddc7a66-b72d-47da-a9b2-34a1a09c3814 CLINVAR:43196 biolink:associated_with_increased_likelihood_of MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2e08d17a-3272-4d77-9f7e-63be353db4aa CLINVAR:179479 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38c0a835-108e-4588-8a80-c49922005c18 CLINVAR:179479 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f37a0d3d-9049-4c47-8d39-f7679e399a38 CLINVAR:438177 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 019db86a-8b6f-4aff-80ae-2ac9afe86ea4 CLINVAR:438177 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8f0f5636-dce3-4ba1-bd7d-98a1211b1af6 CLINVAR:866837 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16483407-6187-4fb4-807e-a8f76477aa38 CLINVAR:866837 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7d02caa0-8495-4133-a8ee-03f584520d63 CLINVAR:224749 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b56fe4e1-c2ff-45e8-ae7f-9ad3a2f9268b CLINVAR:224749 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3ce06f5f-0459-4d4a-83df-26fa24a7c682 CLINVAR:43292 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f6947bf-1fc7-4924-896e-bbd8c470de36 CLINVAR:43292 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c7e9bb2-36af-4541-9cf4-847798bafaa7 CLINVAR:43298 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac371d71-c447-47f2-bc5f-9479e0cec86d CLINVAR:43298 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 02dd4a41-c596-4d69-b468-69599be772a3 CLINVAR:228282 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7a8fee9-a4ba-4188-907e-217b9fab9c29 CLINVAR:228282 biolink:associated_with_increased_likelihood_of MONDO:0010168 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b3979f77-6e9e-4561-b610-09e81c8d74aa CLINVAR:164724 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73a255f5-c025-4dc4-b08e-8037d990e2c4 CLINVAR:164724 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3e73a829-a2ad-4ace-acc0-4fcfd2c52d69 CLINVAR:43335 biolink:is_sequence_variant_of NCBIGene:4647 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9ae2d6e-8d2e-481e-9829-b13cc3030809 CLINVAR:43335 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ec95a1c2-92d6-4eba-b57b-8cb7e661abe4 CLINVAR:187275 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffd46822-604c-4a4a-9626-4c81da4cbd1e CLINVAR:187275 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18078e62-bb1f-43fb-9e8c-108d239caf43 CLINVAR:232248 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a19c898-83d0-45bb-a554-1c9e25c9aa5e CLINVAR:232248 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1385e9f2-643f-4290-a111-72da39da72c4 CLINVAR:569567 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13ac2c8e-076a-4c83-bbea-d0554147c141 CLINVAR:569567 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 605a0a1c-e08e-4244-9ade-c18694f2ead1 CLINVAR:231535 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e77a91cf-6be0-41b3-8add-04187ee39376 CLINVAR:231535 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d27cc44-c63e-4a43-aa25-1d7670b0a453 CLINVAR:265634 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29d00433-83bb-4de5-ad44-893e6a8d56b1 CLINVAR:265634 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2a48332-aedc-4d25-9ab6-8a291d18c67c CLINVAR:634428 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea9b7c0c-40cc-43be-8d7b-36677f0f64c5 CLINVAR:634428 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6be87fe-fe6b-44fa-9408-b1d608de66cc CLINVAR:3028906 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 811ae1bd-612d-44a7-911a-d7197dc36733 CLINVAR:3028906 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 292349bd-f814-487b-bfde-c4325ccc5592 CLINVAR:3047 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc9ed17a-5e20-404c-8913-5ec3ea5e9e04 CLINVAR:3047 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3cfda290-58e7-4650-a979-c6c97798ba11 CLINVAR:453684 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12468f55-d4bb-435f-b30e-ae3a2459df44 CLINVAR:453684 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fc65dd71-d81f-46bd-bdb1-ad1d927c3811 CLINVAR:216024 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a617496b-0c97-4ac3-ae00-e8beb762b1cb CLINVAR:216024 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7178daed-dc38-49d0-bdbc-5ae42caba2fe CLINVAR:141742 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f944f5c5-8eb6-4933-a2e2-1cdabe6b83f6 CLINVAR:141742 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76cecdd3-4ac9-4bc7-b2ba-7e5f18c5cc95 CLINVAR:220121 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 524ca67d-d276-47aa-970d-f0d61e7cb656 CLINVAR:220121 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5a16402-7469-4f1e-a18b-97f476d41642 CLINVAR:229794 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6685c69-34f6-4333-8076-550e9771a181 CLINVAR:229794 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 925700f6-6101-4e88-b9ed-56460bbbb456 CLINVAR:818362 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24339166-5b3a-49a7-a6f2-dbd8c9e3e828 CLINVAR:818362 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64c21cba-581f-4cb2-a465-fdd74fbc8c43 CLINVAR:141887 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9a263c8-80f5-4d68-a274-8db6caf00343 CLINVAR:141887 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ace25ae-bcbc-41be-81b6-0e9bad0f96a1 CLINVAR:141474 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2a05f03-0062-45d1-98d8-b492447e7e8f CLINVAR:141474 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f06a905e-df82-4554-90e1-c4eaf7190852 CLINVAR:233553 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad18e4b4-39c4-4c3b-bd68-bad3889a5cd3 CLINVAR:233553 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3241fc77-0377-4124-a623-d9968aedf96b CLINVAR:140889 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a40a6609-55df-4fa9-9487-e9b4fb8feba4 CLINVAR:140889 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bce1806d-0944-4e03-b352-09f424faaacf CLINVAR:453367 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83ab047e-0f31-4a43-b5f5-b90e37b6ffc4 CLINVAR:453367 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ea88246-2c3c-4672-b1f4-967251df65cc CLINVAR:127340 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7757d42e-751e-4401-b80b-feeafff4c2b5 CLINVAR:127340 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0709c883-399e-4bd2-9611-1bff7bc3f36a CLINVAR:220555 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c1ec001-ea63-463d-8101-d2825a368e47 CLINVAR:220555 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d96d9cf-9d6e-4cf0-8175-51de283dbc42 CLINVAR:3572873 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a89812e5-bb12-49fd-88fa-ee0ba9919bc7 CLINVAR:3572873 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2552aa4-3498-41fb-8310-6c7d4cbc5e2d CLINVAR:187501 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00aca480-6f27-472a-86d4-9762827ec343 CLINVAR:187501 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 60990787-d586-4930-ac62-3b65f2c309b5 CLINVAR:4056347 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12d6a5e4-0de9-41c0-bd0a-faa76dcbdb00 CLINVAR:4056347 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0dcdd048-8e80-4210-8301-8fa05ed0bbe8 CLINVAR:141325 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 745930cb-b9d4-42a9-ac55-946bc8aa597e CLINVAR:141325 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1e023a1-3e89-4eca-a414-519c0c1c41cd CLINVAR:216021 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7bd12152-274f-4876-877a-d2df5d4f40ef CLINVAR:216021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10d64e20-f2d0-4305-bf6e-376e1e35c766 CLINVAR:422744 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5abb7ff-6569-432d-8c78-27e8b589d5ee CLINVAR:422744 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 902f1a8d-fc27-4f8d-8888-0fac9c94b3d3 CLINVAR:646712 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f85db39-da88-4e45-9226-c665a319cd11 CLINVAR:646712 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba7bd4ee-0678-4dd6-a888-86b5ab11fd63 CLINVAR:422096 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c9dae89-4578-4fe6-ad37-20a1641dab38 CLINVAR:422096 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ffa856f-f320-4798-8dae-ec46cc4d1950 CLINVAR:420368 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8168dbf-017c-45d5-8085-97e71f4206d0 CLINVAR:420368 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 007f0f35-4d70-4e3a-bb32-d6072b73bd4e CLINVAR:4281694 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35377fc5-1c5b-419d-9e8e-0d5bac9aec44 CLINVAR:4281694 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e4f488f-3568-4b4b-90d2-b3b2fe49919e CLINVAR:231277 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cbc13b82-bb93-4855-940d-94bddee17bfd CLINVAR:231277 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83ad3615-02a0-478b-b1c8-a23ac3458309 CLINVAR:556315 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 637a4990-33bf-4459-bafe-1366cebf9f45 CLINVAR:556315 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 557496d7-7926-452d-8321-43a41135b703 CLINVAR:186558 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cbf2b47-249b-49e0-ac53-4f1bd2318242 CLINVAR:186558 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bf684e8b-87b2-4cd8-83ec-04817e5d2dab CLINVAR:407699 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cda90b29-c355-4292-8a6c-e734313fab3a CLINVAR:407699 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fba2b93a-83d4-4f60-835d-8720a3774749 CLINVAR:3033 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58747242-cb07-4a5a-ae86-368237364b52 CLINVAR:3033 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33a42fa7-4a6a-465d-ad53-77ac6a0e1e6c CLINVAR:141522 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da0f65ee-f3d0-4e3a-92e2-4fb29bb30726 CLINVAR:141522 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9ba4ca05-844e-4a2d-bb2b-31ea6baf7ae2 CLINVAR:4056348 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0bb08035-5219-4e73-b0fe-de603b28485d CLINVAR:4056348 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b96004a2-4842-4c1e-b46e-3bd268842854 CLINVAR:185137 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 632a88c4-2685-4618-8d9d-071c2ae89b5e CLINVAR:185137 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6640c218-6676-4604-bbfb-a40caea56a45 CLINVAR:3035 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 652840a9-37c7-4a90-a688-2a84f77c691f CLINVAR:3035 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 945f1e9c-c966-4275-b91b-f1ae8b4c1dcc CLINVAR:127374 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d10f3bf2-3668-4513-84e5-b4968ee74e8c CLINVAR:127374 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 506a57ec-a2ad-4a97-81d7-5767dc01fa0a CLINVAR:4056349 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57fc790e-2703-49b1-94f3-5c9fd63b9e4f CLINVAR:4056349 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d4ffd52-cac5-48a8-90af-4c54cca5d224 CLINVAR:3148196 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bff00eb8-a2c9-4442-ae09-93c9fbc088b5 CLINVAR:3148196 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a41e5236-d6e7-4138-ae99-29cb73ed5779 CLINVAR:407482 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30baf47b-279f-4a79-9685-b9b6fc8a879f CLINVAR:407482 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b26abe4-f2a0-4f2f-80a4-b10ba430e2ed CLINVAR:3028907 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de7ff734-9d97-4398-9bd8-5203f79bf2e5 CLINVAR:3028907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f5640cc-95f0-453c-8060-00830385f4bc CLINVAR:181996 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd2b5564-bbbb-4968-99a2-7f89875257e6 CLINVAR:181996 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4484c16f-a2d4-4bea-9b7a-c83187b7c090 CLINVAR:371636 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7f4fb82-15e1-4218-b2e6-ce86a3874f3c CLINVAR:371636 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 10187db5-1c9c-4936-aa76-86d2f8b1db78 CLINVAR:857860 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 950b539f-0905-432a-a351-33031720abf2 CLINVAR:857860 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2501b150-0759-4162-af88-e40056651140 CLINVAR:127403 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4aea984-0801-4905-b543-7d332dac7954 CLINVAR:127403 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c89fd87-ec85-4610-a9b6-81e83496a759 CLINVAR:407510 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 901fa9a2-96e3-4450-bc69-56ff0f44ec7f CLINVAR:407510 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c23c20d0-4843-4c80-aa38-83a0e7680d56 CLINVAR:127405 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b267dad6-c066-4450-94cc-087a7a621ac2 CLINVAR:127405 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a694dc3-6d86-45ab-8b04-428ee474a266 CLINVAR:4281693 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54b64b5a-7d2d-4ca0-b616-ad6997e52186 CLINVAR:4281693 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4e1a513-f753-492e-b99d-5c20ca45a372 CLINVAR:189177 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68a9a63a-e451-4c9c-b3b0-ab8f6c5c866c CLINVAR:189177 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e40249b0-696b-4a62-bcff-7bf14bae59d6 CLINVAR:233573 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb171baf-a02a-4a6d-85ee-9a7a4b3ec6d5 CLINVAR:233573 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 360608a3-0169-4b69-b70d-e14a3ac54e03 CLINVAR:407525 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e398084-728d-41be-8fed-da2249dc409f CLINVAR:407525 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17b94077-56e8-4891-b3c3-d57b1b21e062 CLINVAR:482526 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fae4d9af-c225-4cdf-b686-3118461e3c6a CLINVAR:482526 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8b3a2fb-66b9-4362-8f13-64ba7f8d7759 CLINVAR:3021 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f2ec6c3-2d21-469d-982e-9998573e4e5b CLINVAR:3021 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7b37459-8d15-4150-8c19-2b4294407af5 CLINVAR:3021 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee92b98b-8545-49b1-bdeb-3eb6e5f308dc CLINVAR:2780229 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 880d4860-5a86-4032-8932-317e676f45a7 CLINVAR:2780229 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9987eee2-c122-4467-a417-7a1c1befc7fd CLINVAR:2780229 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b57d60c-5258-4a60-bbf4-4c668322e21c CLINVAR:140823 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b29889db-c8b6-4bd3-b576-e8ae8e9cb30c CLINVAR:140823 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff2468f5-9827-44d6-b802-cb95a8515b33 CLINVAR:140823 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 903a62ab-efda-45ee-bed6-78675bf8e723 CLINVAR:2169563 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb9db546-b071-4ab3-b873-efba3e97f941 CLINVAR:2169563 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85c8d640-289f-40ec-8363-ea57a36ef981 CLINVAR:2169563 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 73b2a86f-877c-4425-9e8e-233e850acd2f CLINVAR:826252 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81e03684-3abb-4165-b550-4e29df038a58 CLINVAR:826252 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74694d44-1bff-4e0a-83dd-37bcd85f1379 CLINVAR:826252 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02c86580-1a2c-4b8f-b526-b4fded7fc38e CLINVAR:1713223 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37ac48ac-d549-4d82-8608-c1c88dabb00f CLINVAR:1713223 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adbc6fe5-8284-4fef-8589-b6dbf8a1f640 CLINVAR:1713223 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96b4de3f-a3a9-405c-a7ab-50c89ff66826 CLINVAR:220763 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae3036da-e9eb-4f2c-a709-eefdb678c16f CLINVAR:220763 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 594a35b4-0197-45ba-9010-42b9b82ca412 CLINVAR:220763 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e423b858-a1de-489e-a61e-f4e05b8dc31e CLINVAR:407464 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10e5477b-579d-4f67-afa6-f25dd7afc73f CLINVAR:407464 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c686018c-96b4-4cac-972b-ae96515b3949 CLINVAR:407464 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c76be1a1-3d5d-4801-af37-efc8b32edce9 CLINVAR:135775 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08a5e9d7-6336-45a8-b776-a85af7a118a1 CLINVAR:135775 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a81a80a5-95f9-431c-a8ea-15df58c235ad CLINVAR:135775 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a58f047-18ec-4bf0-a67d-327978eae4b9 CLINVAR:3572872 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 992b2ce9-06b5-4427-8665-af852cbdd954 CLINVAR:3572872 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 260a422b-da9d-4b01-927a-806f0ca6bbf7 CLINVAR:3572872 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74cde5fe-d34c-4503-9d97-239a9a5e2487 CLINVAR:142355 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf70df61-0170-4105-9b03-137791036bd6 CLINVAR:142355 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9d61e99-c934-47fe-a353-5edb159c81fa CLINVAR:142355 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c5ec27b-79f0-465d-bbbf-a0278309198f CLINVAR:140818 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2719a5b5-5da5-4c95-8781-d6cea4fe24f0 CLINVAR:140818 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43a08317-29de-49af-937b-bb42de4586e2 CLINVAR:140818 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24b420b7-c73c-4f57-8a09-5cce947018b0 CLINVAR:3023 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f8b742c-2755-4004-97a0-48c7e59b8612 CLINVAR:3023 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3728b44c-de96-4930-a1da-17cb20f01f7d CLINVAR:3023 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b655da49-7fe9-49af-b47c-9e44a34cfb8d CLINVAR:3148828 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9efd8238-dff4-461f-bc38-f62879a869e6 CLINVAR:3148828 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 359de54c-6855-4a2d-9112-def95559b548 CLINVAR:3148828 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7e84b9c9-b741-4b5f-ac39-3909e4fb1abe CLINVAR:481101 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 829440a7-af70-45e0-ba5d-20d62ebaf2ba CLINVAR:481101 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ef0678e-3dbb-4e41-a4d7-95187366fde0 CLINVAR:481101 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e07c954a-62e4-4f28-97e6-506e05e23735 CLINVAR:4281695 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd10d9fb-a084-444a-8328-d5da2263a1e2 CLINVAR:4281695 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8c4d5d9-b3c6-4c93-8f72-880b496dcaea CLINVAR:4281695 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99f70bbb-f1c9-4779-836c-1bba1d1f50f1 CLINVAR:870645 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80d86319-ee8f-45de-b0dc-c45a46833376 CLINVAR:870645 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f19454ab-f935-4575-9631-81277c23c474 CLINVAR:870645 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel edb5e55a-6acf-4025-bff1-537e1f2bce06 CLINVAR:644144 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55de8de8-9937-4d99-928e-682450a632ca CLINVAR:644144 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e9ea0ca-086f-47ab-a9dd-861bdf0c8d26 CLINVAR:644144 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7bc84a96-c7fd-4a7f-9e35-b78249617850 CLINVAR:1054111 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee7d5907-b0bc-46af-92f5-29e99bd4180b CLINVAR:1054111 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 356f910e-78d5-48d9-901c-060a0c08dc27 CLINVAR:1054111 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c29a1a1d-5f10-467b-ab18-cee842ecc8f8 CLINVAR:135780 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 646ad31b-1490-4997-a17f-9befe0ffc1ac CLINVAR:135780 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d83a85e4-cbd4-4d36-9f83-b8e4a3817ef2 CLINVAR:135780 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c84a362-94db-46ff-bb77-3ebb2df5276c CLINVAR:420799 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec0949a7-347b-426a-b36f-cc4e18a92edb CLINVAR:420799 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b5fc654-65a7-45c5-a57d-1333859e5e7e CLINVAR:420799 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5fd0ba5a-8a18-4a33-9800-6848ce113342 CLINVAR:1023669 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2753c283-3bed-4e8d-bac1-2d8168b6b2e9 CLINVAR:1023669 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cde14536-94a7-424f-a8d8-88f6e708f0a5 CLINVAR:1023669 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 01f508e0-2a2b-445e-87a2-49c994255f23 CLINVAR:189104 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24abcc4f-1fdf-4f54-9095-b84198884797 CLINVAR:189104 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab1c589a-f591-4775-aa8a-7ddbc4c8fb5b CLINVAR:189104 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b94e1577-e102-4cd2-8a1c-44d9458dcdf8 CLINVAR:186242 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c9093ba-3548-473c-aad1-f5390c6b59df CLINVAR:186242 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 530ad054-3850-45ef-9a20-a22acd019756 CLINVAR:186242 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51de775e-21fb-438f-b5c8-5307aa589869 CLINVAR:140907 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4c551b3-88ff-48ab-9bd4-0372c20bf94a CLINVAR:140907 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar acea42e5-5b2b-493e-beeb-91c6124f1f81 CLINVAR:140907 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 69ad15d8-623d-461b-8d6d-0e9c2e1a17c5 CLINVAR:3022 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5c33d13-478c-4de1-a5c1-c678b1bc92a3 CLINVAR:3022 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf449393-a3de-49f8-b31a-a95ed0ffe0e9 CLINVAR:3022 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b8e4c93b-a95f-438b-af67-c38341cd3396 CLINVAR:3572871 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae2cd5c5-ec8b-483f-a564-3bb02f563bb2 CLINVAR:3572871 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d4fcfb1-c3ea-433b-974f-e6dcebbb1c24 CLINVAR:3572871 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af31a370-06a0-4d96-bb8f-3f746e85f2f1 CLINVAR:127459 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2730c374-e693-4272-8d4f-be390090ad32 CLINVAR:127459 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 352b8bd1-9f3a-4d0e-9a8f-a41a31fccfc1 CLINVAR:127459 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 86395dc0-a65b-4bb2-90d9-b487629159d5 CLINVAR:490737 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 977c0a3e-1316-4053-b226-bd351d4ea291 CLINVAR:490737 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 028b9cf6-7f91-4e9e-80bc-633f2c1373c5 CLINVAR:490737 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ae012740-cf87-4eb3-bb36-0de9b047b909 CLINVAR:140897 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dee96291-53c5-4060-aa89-02276baaf9da CLINVAR:140897 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66f84dd2-674b-4c5b-9883-16efe1ddf204 CLINVAR:140897 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4dd59a66-6ba2-425d-a83f-af589239d88d CLINVAR:3018 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2008e825-0e35-402d-acf3-e6a2809db9b8 CLINVAR:3018 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 165aa84e-3c1f-4ae6-b805-91fd83563836 CLINVAR:3018 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a722840-bf11-4621-b79b-6cf5344deaa8 CLINVAR:407718 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38d98935-7372-45d9-9774-5f8593b9f858 CLINVAR:407718 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b5896b6-4837-4746-9141-3fc130274908 CLINVAR:407718 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c931fa7-b4d8-4831-a8ca-49c2518afbce CLINVAR:127463 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7a47dd1-9223-45d5-a1d6-5818ededd3eb CLINVAR:127463 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a7eddbe-abce-4b39-9d9c-b728c0426dc9 CLINVAR:127463 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9723e6d8-c2f5-45dd-862a-dbbd02d15236 CLINVAR:2780233 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37d1559c-7e9e-4708-81c6-52ab098d5def CLINVAR:2780233 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e943828-c7e3-465b-bb9b-b8ff751d4b84 CLINVAR:2780233 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b816fa54-1146-41aa-9b2a-dfaa40949acf CLINVAR:142187 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bf1d278-9997-463a-ba33-71a8e93e626e CLINVAR:142187 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84e06d4f-2826-4856-9e55-7e0b8603888e CLINVAR:142187 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 76f68e06-1df5-4f8d-890e-8ae7a3a89812 CLINVAR:232110 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb1ad844-db94-4cb7-8293-0ca14b58d455 CLINVAR:232110 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8194fc8c-fe83-4404-ac8f-11bed0615a33 CLINVAR:232110 biolink:associated_with_increased_likelihood_of MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f0e850e8-e5a6-459c-9e23-23e631dda90f CLINVAR:3029 biolink:is_sequence_variant_of NCBIGene:472 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 006afd28-e331-432f-9223-97c9662557cc CLINVAR:3029 biolink:is_sequence_variant_of NCBIGene:160140 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88795678-b029-49f3-91a3-1e49ac998e62 CLINVAR:3029 biolink:causes MONDO:0700270 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ea4b432-85c4-4060-ad09-70e477f4acca CLINVAR:498538 biolink:is_sequence_variant_of NCBIGene:7007 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c073771e-9431-49d4-83ff-f865cda527f2 CLINVAR:498538 biolink:is_sequence_variant_of NCBIGene:116804918 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1689b6a0-a366-4fef-a8a3-efa5d745a5e5 CLINVAR:498538 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b97a43ac-1204-41aa-ab7f-ffdc3d8364f3 CLINVAR:100503 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 728166d1-0efc-453c-bf36-e276869ba638 CLINVAR:100503 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa1e7645-457c-4821-acd9-b7de1421bbac CLINVAR:306 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e63185d4-4755-479e-8b15-f57bc829ca34 CLINVAR:306 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf55d80d-9888-490a-b060-38b45f328170 CLINVAR:31012 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc6bc9da-82eb-401d-ba42-66cb1494bd78 CLINVAR:31012 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3e059401-0811-44fb-aadf-042cf177a3be CLINVAR:100421 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2498507a-cf83-4ba9-966d-de556c2878c0 CLINVAR:100421 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 16556ccc-a1d4-470c-99c9-07e9aff7e660 CLINVAR:297 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc938e77-c996-4e44-b7e4-a055671e0d12 CLINVAR:297 biolink:causes MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 66c14b3e-fe9f-46e3-b0ac-0c0d767bca70 CLINVAR:1684005 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7eaafe3f-d654-4d6c-84e9-9940a8e53e6a CLINVAR:1684005 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b86ea5df-51a3-46d8-9090-87258b44bfa8 CLINVAR:100398 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0832fb32-7e69-4a5d-b065-fbde9e36564e CLINVAR:100398 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 523602be-5949-44a4-8f8e-9a7122b10d6a CLINVAR:284 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5118d013-810c-4dfe-8415-f33ac8a0a85d CLINVAR:284 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 208e2e05-8e41-4817-b2c7-6db41481c7b8 CLINVAR:100395 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c467e82-db35-47d3-9c99-7f6406198fc6 CLINVAR:100395 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a247b047-5444-4ff4-9ab5-6e1a81089a1a CLINVAR:285 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10d107f8-07e0-41c3-aed8-bf84fb89cdc9 CLINVAR:285 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 157621f3-ae67-4a94-8623-eb1b5afd6565 CLINVAR:1684012 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2a45326-8114-4be8-aaae-319f4e53c0ef CLINVAR:1684012 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3b6c71df-c9f6-4b70-b7d8-800e6d3e58c3 CLINVAR:3393382 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa6cb2ed-7bfe-4e17-a751-a888f6853de1 CLINVAR:3393382 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86082475-42a4-4f3e-99f3-abfebdd9db42 CLINVAR:304 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f6693e4-e30b-4664-be76-04aedbae5e22 CLINVAR:304 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6272fa49-ce48-4e69-9b2f-ca46279e616f CLINVAR:100343 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32f6fa51-bdf4-4fe3-abfc-4407c818dc9a CLINVAR:100343 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 968e95c5-583f-4c2a-9306-8193b270c230 CLINVAR:3393378 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29c6498c-05d2-45fe-92c1-19ea653935d2 CLINVAR:3393378 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 68af2091-ed1a-46df-907d-9ea78b981bb1 CLINVAR:100340 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 292eefee-5ce0-47ce-a723-0eca15232666 CLINVAR:100340 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85f1bde5-3cb6-4a82-833e-8f6be88ef561 CLINVAR:100337 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e621e46-1e95-401c-ab12-19503af543d9 CLINVAR:100337 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98ca4264-f7a8-4946-b906-85b1af126455 CLINVAR:100330 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81498a0e-b5b2-4dd6-8dad-0abfcfec9666 CLINVAR:100330 biolink:causes MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9cdcbae9-e946-4c27-a94c-8a6e1ec8174d CLINVAR:100323 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a7dbb1a-b664-4047-adf9-8b6b62967614 CLINVAR:100323 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel be6de5bc-6ec8-4e57-bb53-6d19f0f55c1e CLINVAR:291 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a10d97a7-9dd7-4a4d-b370-969e5e24c6ac CLINVAR:291 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d038ba85-e2a0-48c5-ae50-bb390d2420ad CLINVAR:100316 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f85a8ab6-9257-4f01-a637-623920cb21d1 CLINVAR:100316 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f0a9019-f738-46ad-80a8-79f80f44ad6f CLINVAR:100314 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1477b8e4-9e2f-45e4-9a80-3fccbff59d05 CLINVAR:100314 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d8d7ce32-34e7-4c72-bb35-2ae941febb10 CLINVAR:100313 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a940d1aa-ed3c-4b56-9a05-309d4c74dbff CLINVAR:100313 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59f94dc2-6d0f-4197-bae3-e4fb21985e14 CLINVAR:300 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5563b07c-0d0a-47c1-b959-2b14cb0c141e CLINVAR:300 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a6f8710-14c0-4dd6-aee3-ff45e4c9022e CLINVAR:290 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 222fe392-35ae-4d37-b0a1-318c68234ba3 CLINVAR:290 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3e6f656-675b-42a7-afc2-25d7efcedc73 CLINVAR:100312 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6db112dd-5993-42af-ad8f-347fc4714d6c CLINVAR:100312 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 472f690f-19ab-4843-a7c6-aafd1c129c3d CLINVAR:100311 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef9b9c64-e467-4513-9215-8d9b09d9760e CLINVAR:100311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1b762f37-6290-4bd8-b01d-8446806a1610 CLINVAR:100309 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a44a220-2a27-4add-a8a3-83c56f98084e CLINVAR:100309 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efd4f32a-0599-447b-92a0-c64f521bfcc2 CLINVAR:100308 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50550e9f-145f-4c63-88d0-9378b96b03fb CLINVAR:100308 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 625c37a7-a8af-4074-aa4b-f25aef3a0db7 CLINVAR:302 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a482a8c9-18d8-41d7-928d-fe2ec612e175 CLINVAR:302 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea9385c1-f2ad-40d3-be15-1d280ba7deae CLINVAR:287 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fec26b1-3e67-4b4e-b8f3-61a3dd9db2b5 CLINVAR:287 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9d6b4589-07bd-4b3d-a58e-fec6dbb9888f CLINVAR:100306 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef227b37-2c66-4975-85c5-66474b420de8 CLINVAR:100306 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f49572ba-8c4b-4067-82fa-e4b141582ded CLINVAR:1684483 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8af10ee6-e5f9-4ed2-8767-b192f423fcda CLINVAR:1684483 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6c472925-8148-4f70-b2bc-56925ba01591 CLINVAR:100305 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6f16e3d-7964-4f96-b0eb-cebbdfbaf824 CLINVAR:100305 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7f8e043-1520-44b2-a90c-d72b20a8eeba CLINVAR:289 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76e2a9ae-daad-4813-a181-cc91e32482a4 CLINVAR:289 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67194c59-0536-40d5-ab2d-eef9f2d25a1f CLINVAR:288 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 232c2c06-15a0-4fc8-90e1-3a51a2a54151 CLINVAR:288 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a87dc98b-558b-44f4-81da-035457830f05 CLINVAR:311 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a560f662-65fb-449b-bdf8-7acbaf007c26 CLINVAR:311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eaf14097-479e-49de-b86f-51bbaca6d5f2 CLINVAR:100287 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6264e974-51ee-461e-be61-490a3662a978 CLINVAR:100287 biolink:associated_with_increased_likelihood_of MONDO:0013304 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aba3678f-cb9c-4650-b022-05e99b23c484 CLINVAR:100281 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2765737b-6010-4063-a6e6-58deb1e923dd CLINVAR:100281 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0f29e13-cf13-481d-b4d4-1848cf490c53 CLINVAR:2572159 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18f17be7-2f89-45d0-ac5b-2da7ceb0ccca CLINVAR:2572159 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5f5ad04-7468-4ad8-b311-87394ad94f85 CLINVAR:626960 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ec406cd-e9f8-4fb9-a25a-83c47a2f1581 CLINVAR:626960 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f904d063-df7e-40d1-94a1-b6024679bfc3 CLINVAR:100269 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 894fcd5e-b41b-4700-8c00-c54d70a8da8c CLINVAR:100269 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a118831c-c95d-4d3f-a034-e88a392c0316 CLINVAR:309 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4d928bc-ce40-4f3e-956b-95456ce17ade CLINVAR:309 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9bb377dc-d767-4be8-ab25-456fd6b17ab6 CLINVAR:31009 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16927e23-53b8-4c03-83a6-fb773931001a CLINVAR:31009 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 649bfa4e-8203-4b0d-89d1-ffa537f967f0 CLINVAR:317 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35a8549a-9f61-4fcb-88cf-2a987e86064c CLINVAR:317 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8928e3c-1c62-4162-8536-594c910072a9 CLINVAR:3390365 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7fedd66-268f-4a8a-970e-7df7853713fa CLINVAR:3390365 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9cedd160-c4f8-464e-a954-277cc673e82c CLINVAR:100231 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8b407ae-7cd8-446e-9ff3-deca0d36bdb5 CLINVAR:100231 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea39ce2b-0142-4cd8-bd2b-edeaedce6dd4 CLINVAR:296 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4ff5b08-1e0e-446f-9269-96a1c494f409 CLINVAR:296 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2eb1a3d4-18d4-410b-8a2d-ffaafa544e4f CLINVAR:1684006 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bda3723e-f9f7-436f-87e5-da3c7b09639b CLINVAR:1684006 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 823cd426-2162-4337-bfa5-489b778879b8 CLINVAR:295 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d5f7f1c-329e-4498-a0d2-78e81b4b5680 CLINVAR:295 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5270c331-8da4-485a-b308-be242cd1ddc0 CLINVAR:313 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3845b7d-b84e-45f5-8d68-b8ef399e84dd CLINVAR:313 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 378950cd-a2d7-4a77-8d51-a54f6830fe6d CLINVAR:312 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80eef1a7-0333-4ade-be9b-14012d1e23b6 CLINVAR:312 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dcb6db06-6dd8-4ab5-8994-44d8fffef683 CLINVAR:294 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b803ad0c-901c-42c1-8be8-8b95ae743e5e CLINVAR:294 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6cf8fdcd-dc89-43ca-a0b2-04457c174e07 CLINVAR:100208 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6893f071-9c4d-401d-8345-cd5b017e20c3 CLINVAR:100208 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0e8e5c19-8f54-4277-9c20-de44bdabefb9 CLINVAR:318 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80b6dfc0-e6ec-4e70-b865-f0ff9bac9cd7 CLINVAR:318 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0df53b8d-61bb-4ab5-8d9b-61e3707c9bcd CLINVAR:100177 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ee65fa6-1657-4143-9f49-da7ca31e045d CLINVAR:100177 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9e3aa7e7-5225-41c7-88f3-2fcea4c3876a CLINVAR:100512 biolink:is_sequence_variant_of NCBIGene:7450 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed003dff-4c96-49e1-af0a-99b811abc678 CLINVAR:100512 biolink:causes MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16e047ff-93f0-41c7-845e-315bd35c35db CLINVAR:12587 biolink:is_sequence_variant_of NCBIGene:3845 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51b774ba-8e5f-4592-b88a-230baae132b6 CLINVAR:12587 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a49efc4-5fe6-4843-b348-c091dcb90275 CLINVAR:438796 biolink:is_sequence_variant_of NCBIGene:3845 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68e690eb-c5d3-4c19-839b-3c90f1d07c88 CLINVAR:438796 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eb66d0a8-34c1-4b7e-b3a4-8042fb64a9f7 CLINVAR:12586 biolink:is_sequence_variant_of NCBIGene:3845 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 823dbc37-88bb-4588-ab9a-0dbbe2a78b3b CLINVAR:12586 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd1dab6a-a724-4563-8ece-3c0b73d39173 CLINVAR:12588 biolink:is_sequence_variant_of NCBIGene:3845 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc26b016-ced4-4b36-824f-36b3dd44a295 CLINVAR:12588 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ced5dcf-fec7-4e67-9fe9-967fd5f75fa1 CLINVAR:40454 biolink:is_sequence_variant_of NCBIGene:3845 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a58fc2e0-21cd-4cf6-a339-aa2383c207ec CLINVAR:40454 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e483698-e4d2-48c9-bd1d-6a7a4b43d64c CLINVAR:40452 biolink:is_sequence_variant_of NCBIGene:3845 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1619c93a-7558-4a42-9066-cdc1e4af2a8b CLINVAR:40452 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e19c9a86-10bf-4a70-a177-4843967e9ecc CLINVAR:12589 biolink:is_sequence_variant_of NCBIGene:3845 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a64a1b1-a146-4d03-86fc-7a9ca6fd738e CLINVAR:12589 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 255f73e8-c3ab-4e86-9fe4-4a72599f4dec CLINVAR:12594 biolink:is_sequence_variant_of NCBIGene:3845 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1719ad41-bc04-4b8f-bdac-08df06bc61d8 CLINVAR:12594 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98b40a39-501d-40c1-b074-69a7148596fc CLINVAR:489373 biolink:is_sequence_variant_of NCBIGene:6334 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a289410f-faca-4d5c-9f0d-f1fae3539058 CLINVAR:489373 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e910e0eb-45e5-44c2-a754-9a140eca4894 CLINVAR:1514764 biolink:is_sequence_variant_of NCBIGene:6334 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2229e454-b3b2-4700-9ee9-44ac653a93e7 CLINVAR:1514764 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7708f079-725d-457e-bf6a-ebe14da1037a CLINVAR:373333 biolink:is_sequence_variant_of NCBIGene:6334 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de8d4f41-3edf-45ff-bccf-180eaa30dce3 CLINVAR:373333 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3093c6a5-b02a-431e-b26a-21e227cf53a8 CLINVAR:2820766 biolink:is_sequence_variant_of NCBIGene:6334 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4a81039-ca97-4724-927c-57a40c3ee62f CLINVAR:2820766 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2b8ee5ad-963d-4bae-9ac8-8ef225a17091 CLINVAR:207109 biolink:is_sequence_variant_of NCBIGene:6334 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95316b92-7eae-4d67-899f-8092083a3659 CLINVAR:207109 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 79951cf6-1776-4e93-abb7-4bfbd1425747 CLINVAR:624624 biolink:is_sequence_variant_of NCBIGene:6334 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de478f60-6043-4267-8392-767dcd26d029 CLINVAR:624624 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4bb10ce9-df64-4833-b488-b686b89f7daf CLINVAR:694309 biolink:is_sequence_variant_of NCBIGene:6334 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee602b12-fcae-4803-a28c-e33f17854e29 CLINVAR:694309 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 819680e4-7723-4ed2-8a3a-a24ff98226b4 CLINVAR:691254 biolink:is_sequence_variant_of NCBIGene:6334 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be8e265b-955a-4cbf-a265-e79fc582f56d CLINVAR:691254 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dd1b3174-92a0-4b3d-b812-d74d7704a7ac CLINVAR:253297 biolink:is_sequence_variant_of NCBIGene:6334 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed397b1a-17df-4625-97a5-3b3fc336c8e1 CLINVAR:253297 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 742eeb8e-0bd7-4244-953a-0de5c7918249 CLINVAR:533345 biolink:is_sequence_variant_of NCBIGene:94 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e6a50da-69bc-467a-889c-49d61552b471 CLINVAR:533345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 991d3f98-76a9-4842-95a4-3e0289242804 CLINVAR:1381345 biolink:is_sequence_variant_of NCBIGene:94 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ab18801-e032-499b-b422-47ec10fd7e3d CLINVAR:1381345 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d1683b5c-f843-4c95-bd66-370435f6a76e CLINVAR:411299 biolink:is_sequence_variant_of NCBIGene:94 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9f34b6a-0f7b-4c6b-bcc4-67df6fa10c63 CLINVAR:411299 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8e0d901c-a5f3-4564-b0f1-92a50109f88c CLINVAR:426011 biolink:is_sequence_variant_of NCBIGene:94 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26eb041d-85c5-4e56-82e8-7f0ae725a359 CLINVAR:426011 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 24ca99e1-52e7-40fa-9ffa-9a920cc58b5e CLINVAR:573410 biolink:is_sequence_variant_of NCBIGene:94 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9db1b22b-1d3f-4af8-a34e-5f6d19fa4e69 CLINVAR:573410 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 834d1172-fce9-4cd9-9026-49eaaf020d97 CLINVAR:3064793 biolink:is_sequence_variant_of NCBIGene:94 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e2f72e1-44df-4a6d-8d4d-5af8652227e9 CLINVAR:3064793 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e69866e3-d699-4850-9c8a-79e80830a618 CLINVAR:657805 biolink:is_sequence_variant_of NCBIGene:94 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ac0412e-ccfe-41ce-9789-db78314eef4e CLINVAR:657805 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c7c56f3-561c-4deb-bcf6-dec3b05a8075 CLINVAR:848699 biolink:is_sequence_variant_of NCBIGene:94 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69496448-9d57-47a6-8e48-eb7747053516 CLINVAR:848699 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7c5114d3-86c4-4034-9671-aa7e52dfc79e CLINVAR:212802 biolink:is_sequence_variant_of NCBIGene:94 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70040377-bd39-4b0a-aa1e-3a60c3a0edfb CLINVAR:212802 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4d734ae-5908-43fd-9b0f-745db5196e3b CLINVAR:411300 biolink:is_sequence_variant_of NCBIGene:94 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e5566d6-96b8-4c92-8394-c6631ed9c43a CLINVAR:411300 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd9619d2-aba9-4826-9197-7d85425b6dce CLINVAR:8243 biolink:is_sequence_variant_of NCBIGene:94 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b24eb61-f5d4-4586-98e8-992cc8cc773d CLINVAR:8243 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8749c565-4f65-4ecc-94c7-80e8efaef8ea CLINVAR:426040 biolink:is_sequence_variant_of NCBIGene:94 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b34a8b2-faf8-444c-a413-c219dde8a93d CLINVAR:426040 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2381dd7-3800-4fa9-bcd7-3a18f00d7f73 CLINVAR:194161 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 355698b0-f21f-4b9a-a351-a43317b14937 CLINVAR:194161 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7addbdf3-bd22-403f-9bb5-150bcc241f2f CLINVAR:551287 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d03c5841-92cf-475f-a252-4bda59a93dbe CLINVAR:551287 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4a6fc1ef-1b56-4773-99cd-ab175ed986d0 CLINVAR:932274 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5bc14ea-a0f1-4e97-9e7b-606b3a1c8573 CLINVAR:932274 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a02d4104-2910-4106-865c-05e81116e149 CLINVAR:1810392 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 923dc123-ca0e-47b6-9e0f-c7f9692cb531 CLINVAR:1810392 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 14895da2-8e31-4685-8127-1782057a884e CLINVAR:635216 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90e1e390-ba55-48ed-848b-2dce5d2dacf3 CLINVAR:635216 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 73b852c3-0fa7-4d63-b979-38bcf8361e71 CLINVAR:439226 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2225882-bf55-47d5-becf-77d20ca93fc8 CLINVAR:439226 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cd1b21c9-e5e8-4d2a-97d0-1477ea881430 CLINVAR:932265 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f593690-a40f-49e9-a807-d4dc263bc39d CLINVAR:932265 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92ca5010-6dd4-4d6e-a7fc-c4022b54cad1 CLINVAR:102590 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5625b6c3-6454-4f91-8829-94ae43af351a CLINVAR:102590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2d89bc8-1c50-4840-958a-bfd13d75e500 CLINVAR:872836 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7adeb84b-d431-467a-ae6c-a1071e51cb3a CLINVAR:872836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 98e8eff4-930d-465f-8501-c5cebf45b52d CLINVAR:555797 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c3849fc-9f34-4233-b8b9-f9acac405feb CLINVAR:555797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd78e088-8cae-4504-b51d-e2064645deb6 CLINVAR:102589 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 555b8936-4cac-46bb-a085-5dcbb4c43f6d CLINVAR:102589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f7870ad6-423f-49c4-b69f-c089944ef80e CLINVAR:102588 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f925e51-f435-4f24-ac62-3a7ec84b441e CLINVAR:102588 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8fa75d27-6cb6-4be4-9ac2-2a235cf9041a CLINVAR:370074 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b422fbe6-5b7c-440b-a140-49aefe62f31a CLINVAR:370074 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e02984c8-adba-45e2-90a6-ff0a44fe7c5d CLINVAR:576 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 787bfd9d-d303-42f8-b6fa-e83463146cce CLINVAR:576 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0fc0a5b7-112c-4a08-ad90-fdb574b8010c CLINVAR:932273 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bcb14530-3b8c-4ccf-91c3-e6f77061b432 CLINVAR:932273 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a81e6fd0-902c-4ccd-9ec8-b1bbe5eefd6c CLINVAR:625291 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29d9e451-26fe-40b5-9bd7-4af172a9aadd CLINVAR:625291 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8c9c2773-1a0d-4689-b723-eda87474ed6a CLINVAR:1327550 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63a25e66-affb-404e-a328-751a156a7508 CLINVAR:1327550 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1aef55be-473f-4e4c-8ebc-54d15e75016f CLINVAR:102586 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fe6d3b8-674a-42cb-837e-1c3f629b44e7 CLINVAR:102586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d1f50b7-fb79-4058-8fef-cfac516a5f92 CLINVAR:102585 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02b4b4ea-e05f-4de7-8858-ba945cfc493f CLINVAR:102585 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e7cf6faf-4703-4c6e-9c04-7dbc39447585 CLINVAR:551555 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be02a9ca-1a2a-402c-9257-ff834c29bb6f CLINVAR:551555 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 53f463c4-4174-4b1a-9a33-e9904292577d CLINVAR:1185010 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93379e6e-7762-4940-9dd1-54bb24f58c10 CLINVAR:1185010 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 25cbf382-d859-4bc3-affa-f0216fd72091 CLINVAR:987757 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94d86ef8-0cbb-4d94-9661-2e44aa5c650b CLINVAR:987757 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c2f5f50-fd33-4cdd-a834-0024173ed26e CLINVAR:639999 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f93f8a9-f2a6-415e-93f0-8344f0b78183 CLINVAR:639999 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 61fcfc29-dc12-4116-bf62-a99601a58cb6 CLINVAR:102582 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b7098a9-5a60-4a7e-8018-92b221a4f303 CLINVAR:102582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0f61e8f2-74e8-44ce-bbd2-5bf368206460 CLINVAR:932268 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ccf4e6b-3deb-41f9-b66e-91f1d8c53538 CLINVAR:932268 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 48674d46-bfa2-47cc-b920-7c884cd939ea CLINVAR:552488 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dee1133a-efb8-417f-bed7-beb68813d013 CLINVAR:552488 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6eed766f-452d-496e-bbdf-a96b6365b6e0 CLINVAR:102580 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c00dd669-cd68-4b9f-8b8c-b430cf93466b CLINVAR:102580 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48c20748-dcb9-4e58-a90f-22b78e60cbee CLINVAR:1327551 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1081b061-ddf5-4113-871d-e4e8975b7862 CLINVAR:1327551 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1e6b555b-cfe7-4f53-9a86-d2a13dbbbed2 CLINVAR:1327552 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcf1ce61-4cdc-4199-9910-8489b147aaa6 CLINVAR:1327552 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0cfc2874-1a91-41d6-8092-8df2b8fd2832 CLINVAR:558091 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5097bdf-73b1-4e46-9eba-2ff0fc6abbac CLINVAR:558091 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a38981df-df14-4a02-b813-bdf8eebcfeed CLINVAR:987913 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1c979a5-0303-4a8e-916a-65485a3921dd CLINVAR:987913 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d74daa63-3c68-44cd-9ce1-955db5598baa CLINVAR:1693245 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f14201f-5a0c-4a3e-bc77-3d3355e31694 CLINVAR:1693245 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f949b230-df5d-4609-a094-9e75f7022f93 CLINVAR:1327547 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92fbc450-85f1-40b4-9cf3-864714a9bbfc CLINVAR:1327547 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 504f9c9c-9977-417a-bf28-bd8237f02add CLINVAR:617 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ee88ff6-fa89-46a6-b7d6-474dd4e0d702 CLINVAR:617 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbec5aac-87fa-4c17-8716-dad69153ce73 CLINVAR:1810390 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83b1e917-e4f3-4afb-81b5-6f03e1eac974 CLINVAR:1810390 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 528b811b-bbf1-49f7-b1d1-718e85078b58 CLINVAR:593 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6dcf3220-fb17-4508-9f01-e4a5845803db CLINVAR:593 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de9096a6-330a-4350-838f-493cacc2d010 CLINVAR:592 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c620868-e4f1-4a06-b17d-695decfc2236 CLINVAR:592 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 384050c4-143b-4fb6-bd2a-1da8475baebf CLINVAR:102575 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar defaca29-60aa-4373-b5b9-28ea02e0273b CLINVAR:102575 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfa88669-6cc5-43d2-853d-c0243f638e4b CLINVAR:2682163 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78009048-b905-4f22-b916-f8b43cf8755b CLINVAR:2682163 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e04bf1a-0f1f-4c9c-a769-04f075d195d7 CLINVAR:102574 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67364d89-58a7-4783-a99d-ae430fae686a CLINVAR:102574 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 765daa45-643d-408b-b4ad-98a7fd0888e1 CLINVAR:102572 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e7b2ea1-d8b2-4a62-8f5b-dbc7567f3b4f CLINVAR:102572 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c59492fa-e125-466a-8378-4b3853125e0d CLINVAR:102571 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6790ddbd-ce68-4c49-a8eb-a32a496896de CLINVAR:102571 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ed11173-108d-4453-9b71-8914db84c0f2 CLINVAR:932279 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf188a59-d6eb-47c6-8bb5-67e061079b55 CLINVAR:932279 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c9e5e311-27b0-4cdc-907e-48ec52acdd1e CLINVAR:612 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59606b97-a0d5-4d36-b991-cfa4c25e2724 CLINVAR:612 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 650434a1-e503-4b30-8feb-3129ad38b9aa CLINVAR:577 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44b3225c-9d5d-43fa-b628-3b628b6da4f0 CLINVAR:577 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aaf0fe10-80a4-4945-b3c3-e3722fbc9d9b CLINVAR:635 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f4dd08f-b6ab-43da-bafc-d69c6bb7ad28 CLINVAR:635 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bd24ce35-c637-4b6f-9e0a-e4ab0b56c31f CLINVAR:932264 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f29978c2-3e3f-4cfb-a5f0-24d928f9847d CLINVAR:932264 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f985236b-6488-45ea-87c9-c4cd1497d66b CLINVAR:552907 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31d3fa71-050c-4bc5-88c8-35ae265f1c1b CLINVAR:552907 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 489fa9ae-cf8b-440f-a39a-63e01a700533 CLINVAR:102567 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c14af4f3-b1a6-43de-95e5-67e6e267f26e CLINVAR:102567 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eaf11a89-765e-4179-8455-ff2276eda13b CLINVAR:619167 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 771686e3-d9d6-4e07-926b-30026ddb8a38 CLINVAR:619167 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6472346f-5139-4ea0-991b-5c8274267c62 CLINVAR:92731 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 048d7131-5a15-4309-b285-1c1dbbcf20dc CLINVAR:92731 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71bc3d94-a6df-47f6-a940-af94ed64feb9 CLINVAR:987755 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9923b0a-d519-4cf8-b658-784204e4a333 CLINVAR:987755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e2d39828-2c38-4219-84bc-0deb1f7fad60 CLINVAR:987756 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3746d2aa-7bab-4392-81b8-b3b2c64c989d CLINVAR:987756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 12066192-75a7-4c7c-8833-f1b083cf6d81 CLINVAR:102566 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 086c3fa3-8b1a-45a0-b7ea-da06bfdf3e76 CLINVAR:102566 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f6d493f6-fdd4-4b09-b82a-e28d6f156bff CLINVAR:102564 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e720d9d-1bf2-4899-86f4-32d8b4004b1a CLINVAR:102564 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 01c6f900-020d-4998-ae5d-3b6ff529e95c CLINVAR:987907 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1b9c78b-7744-429f-b18e-5e558e9371d0 CLINVAR:987907 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0deff32f-6292-4a4d-8122-5428dff6b61f CLINVAR:872843 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eba27849-89ec-4e00-b823-38625caa9ffb CLINVAR:872843 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11bba7e9-90fd-44e0-982e-60672ecfb41e CLINVAR:92730 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6aadfbe2-78dc-4a06-a32e-31de22572b2c CLINVAR:92730 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50bc30c8-a064-4fc9-bd47-53df29f1e189 CLINVAR:862570 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4abf57a-bd4a-485a-85eb-001d724f5436 CLINVAR:862570 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7247bec1-d27a-45c7-8e43-6b2dbd1d5f60 CLINVAR:625286 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef7ba8d0-a3bc-48d5-bf56-262930e9d88d CLINVAR:625286 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f34b91eb-e523-441c-a7ca-ebf10585e532 CLINVAR:987768 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85eef309-7329-434d-b08d-a53cddcc07c3 CLINVAR:987768 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ea7f4229-be8a-475f-b9e4-cd0214662fb9 CLINVAR:102565 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ddbc531-8e72-4b85-8540-4bef162b2988 CLINVAR:102565 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c0efdea8-b696-46f1-a9ad-1a86b200cc00 CLINVAR:102560 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4688139-af3b-4893-a4b2-a214a7098e07 CLINVAR:102560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6af7a6dd-26f0-4320-a6cd-d08be7a8b3f2 CLINVAR:987771 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d9eab98-039c-4fe7-9c29-9757cf5aa844 CLINVAR:987771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 71a28e7f-0481-496d-ad64-9a1af5772ee3 CLINVAR:557365 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fe5922f-948a-47f3-b65d-fce429c8a824 CLINVAR:557365 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d53198da-e0a1-42a6-a784-e4517b7b8b5c CLINVAR:1327563 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c5972b0-e9cb-444a-a63b-bfdf08f32ce9 CLINVAR:1327563 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0f19cae5-320f-4ba2-b245-97f8cc9b1dbe CLINVAR:1810393 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36356a8e-0e81-4c74-a069-e37dfc411e46 CLINVAR:1810393 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22869602-2c25-4a95-af33-b49346a358f7 CLINVAR:102557 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f75522f5-e23f-429e-a3ba-bd348c487750 CLINVAR:102557 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cbc3d665-5551-407c-a526-4378358b46b1 CLINVAR:102556 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e50f612e-5355-4f99-bc92-54f36e13e37c CLINVAR:102556 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4bcde52d-9c64-4c8c-864f-e1d579052518 CLINVAR:102551 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91ec6144-b093-4630-9e0e-4b9cb58f130c CLINVAR:102551 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 890116f4-6344-4fd0-827a-3b741a523dda CLINVAR:102562 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc4834eb-eea0-4b0e-a263-2388b6c58d80 CLINVAR:102562 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba74401e-aae6-421c-b884-31118497aecb CLINVAR:102554 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8bdd552-4a29-4cdf-9639-4a71fe4bf9d5 CLINVAR:102554 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a90b392-a096-4470-ae1c-3b3cd84216c2 CLINVAR:601 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6f86ad3-9b79-4a31-b233-a6fa5d755615 CLINVAR:601 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a920f15-9438-4505-a37b-bccf44670322 CLINVAR:120263 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a79b6c5-1847-4b6c-9ef1-695cb86d0141 CLINVAR:120263 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 73ac7e94-5e2f-4a55-b192-44c2b1f4accf CLINVAR:102550 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 984710ba-c6da-4d5f-98f6-a713ea369cf5 CLINVAR:102550 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2244648e-9170-441d-8442-c708bee06801 CLINVAR:962987 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87699c9b-087d-41ab-a10c-2e237c49e86f CLINVAR:962987 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 45c93aa9-f7c4-4ce3-9fad-661731099733 CLINVAR:102548 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16f8e50b-7b91-43a7-b828-b302edeccd8f CLINVAR:102548 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2ae59475-e4b5-4109-83db-bc1e64bdef39 CLINVAR:102547 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74ba31de-8505-45ab-bc45-02ceede7a7d6 CLINVAR:102547 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7881170f-7225-49ce-97c6-c913af40d476 CLINVAR:102546 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15792679-07db-4226-878c-533bb0062136 CLINVAR:102546 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2725d0fd-c697-4c0c-ac06-b37d0ba802db CLINVAR:120262 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d7ef0e1-6b6d-4522-a469-65f7edf29a86 CLINVAR:120262 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f631ed69-420a-4d3e-bb11-3815c8665f13 CLINVAR:102545 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c732add6-9fc8-451d-892e-014ec0640833 CLINVAR:102545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c1b9b20e-8407-476e-8930-c08e081914b9 CLINVAR:1810383 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 125090ce-d07d-4979-8ce6-2a06fbee7954 CLINVAR:1810383 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9642b50a-77ce-4d65-9758-3e668a573cdd CLINVAR:1810382 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc6f0d30-537f-475f-9cee-41d6abfbd13e CLINVAR:1810382 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75354b28-bff3-451a-8bca-6648cd4c8606 CLINVAR:102544 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62a5b4d4-6784-4209-b7a7-8ff97176b079 CLINVAR:102544 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b95de2e6-3d24-4688-81bd-bf6f46864e56 CLINVAR:853581 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3228c4f6-cc3e-497a-a1ad-c7f281300b7c CLINVAR:853581 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b4634c5-f285-4260-8bfe-c50fd857c88b CLINVAR:553594 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e5566c0-378d-4cd6-a607-f81ef8c9f89d CLINVAR:553594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 011b112b-26b6-4944-b5a1-f3239fac5a72 CLINVAR:225136 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 482c13b2-7576-4751-a066-8e94500642bf CLINVAR:225136 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 72d6bd57-3433-4a9e-8e0c-875a07c5ba55 CLINVAR:625 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fae4acd-93b2-43a9-a186-80e18ce64f71 CLINVAR:625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eda69f76-0a59-4ae2-a655-1d0702065e2b CLINVAR:102543 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab52ba42-81dc-4a52-b886-9a55f4191f40 CLINVAR:102543 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4bccad0c-e369-479e-839d-f4c6632e4d17 CLINVAR:102542 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8c0fc7a-60c9-46e5-92fe-e31ebe197df2 CLINVAR:102542 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbebbcda-6f08-41a3-a855-6ccfbe797b66 CLINVAR:120260 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04d7db6a-dae3-4a55-a3a8-5f1bfc5b937a CLINVAR:120260 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 25d07eaf-9635-4a73-b622-c112c45046ca CLINVAR:102541 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6a2226c-a75a-4332-8d3f-70073f113bc4 CLINVAR:102541 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 197ef318-d33b-4af9-ae2d-954d1f57bc46 CLINVAR:619 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d9855d8-24b7-42fb-98c7-df0fde7642dc CLINVAR:619 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbd7726f-53b0-4e97-a4fb-b5438d22b860 CLINVAR:929125 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53082dab-f54a-4653-97d3-fa8500698cac CLINVAR:929125 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ac490fb-2d7e-4d85-9693-6939414f7599 CLINVAR:1327553 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d92ecc22-6152-4cb2-9b3a-15e4948db47f CLINVAR:1327553 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ca7481f6-49b2-4487-b049-1a08edc37254 CLINVAR:102539 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53b537c9-dc7b-402a-a032-c9340817f85f CLINVAR:102539 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b00da7c6-a04a-4939-8a6e-8390ac597445 CLINVAR:102538 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17cc6530-8507-4e1a-8a7a-c83b63a26f5f CLINVAR:102538 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d7da9b1-b942-4646-8266-274081b4b85d CLINVAR:102537 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 909168bb-4453-4090-8c1b-57f3d783a487 CLINVAR:102537 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 46401c0e-f1dd-4745-96c0-6ac2fc1af90a CLINVAR:2682167 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cd97b7b-6399-4d32-9add-fde3db3fc220 CLINVAR:2682167 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6ac1364b-f81f-44a5-961e-d8ded25bbd50 CLINVAR:370701 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a80c022e-545b-425a-82c1-e1f3b3b83275 CLINVAR:370701 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2a019a3-8593-4869-b2b5-feda6d107c95 CLINVAR:872835 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a88555e-6dcf-49ce-9659-8df32e76b89f CLINVAR:872835 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 631b872b-90d1-4a41-ac94-d64bc26b929c CLINVAR:556882 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7abaa32c-4f9f-4d32-b9c5-d5de5f958307 CLINVAR:556882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17f3ecaf-910e-4a03-8250-6808a453bfbb CLINVAR:628 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0074280-6f5f-411f-a4ed-8568da83bece CLINVAR:628 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50ad03fb-0f36-4b77-8459-e4f95e315c4a CLINVAR:102534 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78fdeafa-caf4-4008-aece-b2ea2540971b CLINVAR:102534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 79d7f4f2-4602-4277-b96d-cde1bab2d70f CLINVAR:634 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b59077bf-2142-4231-a777-54b860407536 CLINVAR:634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4960498b-5137-4770-bb38-b5a6ae38dd57 CLINVAR:932278 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55c08fce-542c-4d57-a7ed-1142cbf9a183 CLINVAR:932278 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 013aa27f-a90a-45b8-bc6f-36a188a9bca3 CLINVAR:102532 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b0fbc32-9c67-46fb-9648-dc65ae5686d0 CLINVAR:102532 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e96a1971-91c5-4cec-a27d-89b072ea9c61 CLINVAR:660581 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ca0d106-ff9c-4727-aa2b-58f9fcc4872a CLINVAR:660581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c844ca9f-a56e-465f-951a-6348dcf7536b CLINVAR:102530 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76e44522-97e7-4699-913e-1fe514748e03 CLINVAR:102530 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 642f2910-5063-499a-b2e4-541acd236412 CLINVAR:932260 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6f4e5e6-7b5b-42a6-aadd-c3ea5a85d88a CLINVAR:932260 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c6f4fccc-5631-445f-8943-ed545a9a6aec CLINVAR:102529 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e8b7faa-a5c7-409a-bf32-02b8998eefe0 CLINVAR:102529 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 02223cd4-e318-46b0-b987-21462fdb2943 CLINVAR:1327554 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2dcab54-2477-48c3-8ece-64907a1ec41e CLINVAR:1327554 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1136f910-c13f-460d-a23f-fe35575d80e7 CLINVAR:102528 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1c5b249-1e01-49cb-9e22-ce521ad3d2c6 CLINVAR:102528 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1590fea2-61ff-4329-95c8-159252d2223c CLINVAR:625290 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 656bc32d-9188-4174-9cf4-e3d48ec05ddf CLINVAR:625290 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 063a955a-51a7-4ece-9812-2df5d0477294 CLINVAR:620 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9486ab7d-e563-4000-a192-ed25103bca87 CLINVAR:620 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 32a1bbac-917b-45c5-870e-bb444f6d03f5 CLINVAR:1327564 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80910561-bd56-4e6a-b2ca-104945caf28a CLINVAR:1327564 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7f5eb743-1cbb-46c1-bc4b-b40efb68aecb CLINVAR:625289 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 934ea4be-6c69-470f-9a63-85c5cf2eaebe CLINVAR:625289 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 87328f03-5692-4ea5-b2d6-41c38c980d6b CLINVAR:102522 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edb8970c-8b03-4f4f-ae15-2245bd8ba095 CLINVAR:102522 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d5f03c0-3c9d-4f8b-a864-9feae459d04a CLINVAR:102524 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41b3690c-e033-4d81-aeca-ce920d68f86a CLINVAR:102524 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b22eb81-f7d1-4de6-b2d6-dd4ad491227c CLINVAR:102521 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7d46bd1-7c14-41ba-9ace-df4717644829 CLINVAR:102521 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 360c7bd5-71f2-4e2a-92a1-7f0192216aae CLINVAR:597 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4ed57a2-f6e3-4402-b247-a8973b20203a CLINVAR:597 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 50106957-befb-4b35-829d-5f7504141c3a CLINVAR:102518 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9477af68-a3f6-49d7-b419-5b9c57beb62f CLINVAR:102518 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6cf64300-422a-4db7-bde6-64943c6b144e CLINVAR:1810381 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e43c53c-ab2e-40a8-ae59-c40176e06840 CLINVAR:1810381 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ef4db372-3532-4c4a-86ea-fe0fddddc096 CLINVAR:1327565 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dad1fc20-334a-4a1d-b3df-88e5e8173e35 CLINVAR:1327565 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 23fcc008-7630-498b-8cef-96c96ef17150 CLINVAR:1693236 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1952ecc-810d-428d-9f4e-23bb2dcbb957 CLINVAR:1693236 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0fd9bfa-bbdd-4d32-8bfd-b8fc566c6dcc CLINVAR:1327561 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0879ba52-9a71-4490-866d-524e5ae5b6ee CLINVAR:1327561 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e85b0dd8-68f7-480c-a737-040d2249006b CLINVAR:626 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34725426-80a4-47b4-a0ff-d585d24c56ab CLINVAR:626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7654fa5-fc9d-4fe0-b9e8-77d5712e60e8 CLINVAR:556817 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2399e44-1ed0-45c0-9bbd-d3a85deea742 CLINVAR:556817 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2f0d06c9-521d-4104-a004-7aa9310d58a5 CLINVAR:1065374 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cbbc4f9-3596-4fb6-b0a9-0bd600904078 CLINVAR:1065374 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f7e912d-78ba-4188-98cd-c8c3568f8f43 CLINVAR:102514 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e91d208f-c5e1-426d-a0ad-60d4da2d9259 CLINVAR:102514 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f4de848c-3002-4b5d-a00f-59775733bf25 CLINVAR:595 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b30ad37c-78b4-4d7b-8fca-eadea115f2d5 CLINVAR:595 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7655e9f-1777-4bd8-b25a-024530b923bb CLINVAR:92729 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33b88523-af57-4f31-a079-b804fc16a15f CLINVAR:92729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67409c80-844a-4828-b1bc-3de1071757ae CLINVAR:872842 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af4c35bb-b7c0-4923-9544-35db21cf0f10 CLINVAR:872842 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f77f44b-5656-42e4-8dcb-48323dd97d5a CLINVAR:872841 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b155acdb-9da8-41bc-ba44-4899e89fadcd CLINVAR:872841 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20a3aee7-2577-4236-beab-b5ebdadb34e9 CLINVAR:102509 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2106d6e-8d3f-4009-8ef4-fe466428b070 CLINVAR:102509 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae362891-95bd-4120-9811-0501fd4ce8ac CLINVAR:120258 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4dcd51af-b5e7-46e2-b3fb-f4e16ad5cd74 CLINVAR:120258 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41faf1b6-672f-4db1-9a58-ed20fe52572b CLINVAR:623 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e1d7dec-e02f-4bf8-baa9-a79d6bf3e219 CLINVAR:623 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32e9796b-dcc5-438a-963b-663512158295 CLINVAR:1327555 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8d5d6af-50ca-4f1b-b6ab-e528e072094d CLINVAR:1327555 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6c7accbf-e533-4395-b1c8-860b48783523 CLINVAR:607 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1343e254-3da3-42c9-9521-5a3d676209b9 CLINVAR:607 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da6d4287-705b-42a5-ba62-868c4d0a9429 CLINVAR:102508 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f22a5b1-698a-4d2f-9b74-291a572583d9 CLINVAR:102508 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 30528c30-03fb-40ba-8667-db0eef8ff579 CLINVAR:633 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd7abce0-2ab0-46bb-9829-751fe220d656 CLINVAR:633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2c95fb0a-5cbe-492f-9f4a-170998359498 CLINVAR:203872 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5fb128a-27ab-4387-8042-f30ed26449de CLINVAR:203872 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 19619d16-2fc3-4653-9b24-0b32a5d9f25d CLINVAR:102501 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bb4cbd3-185d-4e35-8d7a-13eb10dcb3d2 CLINVAR:102501 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7516968a-a1c3-4c63-ac0c-c578ce34134c CLINVAR:102500 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07ef910a-3ceb-47fa-a514-c97cb8419d80 CLINVAR:102500 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4c92cfa-289d-4e7b-833d-e1c7d5fb9342 CLINVAR:1693237 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa9717f2-0fc0-46f2-a684-8bc8964e1722 CLINVAR:1693237 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3acd392c-c654-4156-b4e2-fe87a0000562 CLINVAR:102499 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2016e3f6-df10-46fd-9f0f-2807293ea82d CLINVAR:102499 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b58b241f-0f1c-4eca-95fd-01b15e27afe7 CLINVAR:102498 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 937c9a39-4a2b-4efd-a5a4-ff12a2585a50 CLINVAR:102498 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9292f26b-25a5-413b-adc7-f8af46ffaf21 CLINVAR:102497 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f96a2a94-03e3-4b23-bf7f-5614bf8a2c5b CLINVAR:102497 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 836a5f93-1d43-4dc8-8f2f-4fa3a6f1af6e CLINVAR:102496 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60c132a4-476d-4a4d-a452-e55190fd6718 CLINVAR:102496 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 430307e0-ffb0-4b16-bde3-f1a40affd17c CLINVAR:102489 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e48360c8-9466-4315-b669-63fb7370127d CLINVAR:102489 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2aa8d027-5465-4e1f-91fd-7d8f90566a38 CLINVAR:102493 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b920dacf-29be-4bab-b053-1d2792b1798e CLINVAR:102493 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ac6358cb-4d04-49eb-bb73-3942b16c8791 CLINVAR:102494 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79f4ae2b-38ad-4763-b35b-e9686b48a7b6 CLINVAR:102494 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6ea97f41-e987-4dcc-a2c3-3f00a6eb4503 CLINVAR:102491 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4fbe6ef-3cf0-4051-b209-54b2ad567951 CLINVAR:102491 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dd8160fc-8cf6-4454-8243-35415af4948b CLINVAR:932253 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19b62369-b8ac-49ad-8529-46dd2131c2fc CLINVAR:932253 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a5ac314d-8076-4cb4-b0e7-39bb30f531fa CLINVAR:102488 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d52ff71-7ea0-4f3c-a4f2-dc8c19e42bab CLINVAR:102488 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 187c64c6-1a52-4393-bffa-7b05c5609278 CLINVAR:102487 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 705fddae-042f-4bf3-be01-31f788dacdf2 CLINVAR:102487 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba402158-110e-42de-8678-1bb924b42845 CLINVAR:102484 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c9a58b6-9ac1-4021-bb95-2445fd31c6c6 CLINVAR:102484 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b326dac-4062-4cb1-bb95-9d41cf3fa7b8 CLINVAR:102483 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f00d82b7-dcde-4ac4-a29a-017aece39f15 CLINVAR:102483 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 001893fd-d0d6-4906-83a6-7c2f0c23567e CLINVAR:102481 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aeebd3b0-b88e-4e17-945f-f26e1645357d CLINVAR:102481 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bac07d71-a7e8-474c-b642-18d75f2d88ee CLINVAR:102479 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b374692-a353-4afe-82c3-efd093c8887e CLINVAR:102479 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 250f2021-582a-46a9-ac08-9c220d34e305 CLINVAR:872839 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f01619e-77f9-4962-b14b-953955853326 CLINVAR:872839 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85608907-1f41-4906-9daf-d18d4b23a879 CLINVAR:102476 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe3a6777-3786-434b-b229-69c72a13992a CLINVAR:102476 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 099962ad-7020-481a-88ab-07f748766e68 CLINVAR:932256 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22b58c7c-aef7-4023-9a5b-60464e7eafce CLINVAR:932256 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d8da4da9-5766-4182-976b-19e4c798bb27 CLINVAR:102475 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 185a6615-a201-4a76-bf41-11469b740e73 CLINVAR:102475 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a043b58b-de0e-47d5-82e0-227faff021bc CLINVAR:1810388 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b1d4bb1-ea77-46b9-b302-eafda262c0d1 CLINVAR:1810388 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5819252b-4e21-4427-a5e8-754c4142fba7 CLINVAR:102471 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d598d6f-8e5a-4ccf-b102-51bb4fd1e447 CLINVAR:102471 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a6aaab96-5e44-45e2-868c-1ee3d239d5f8 CLINVAR:102470 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73a42176-dfeb-41c5-bd1b-649e9f9be454 CLINVAR:102470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83ede95a-f328-4a4d-b39b-eba6942e85a5 CLINVAR:1810387 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4cb374c-3b74-4988-9fac-671d49307756 CLINVAR:1810387 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 38b02841-7e1c-429f-b7f1-63c7a3fc6a12 CLINVAR:102468 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe42ed94-4750-4352-a62f-5b4b318c5a9e CLINVAR:102468 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0623ce0-c59d-4ee3-9854-97c98214eae6 CLINVAR:102466 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f91ab71-8e57-4cd9-a401-628ec0e9634f CLINVAR:102466 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ae7f7231-31e7-4f29-aca8-c904071c38b3 CLINVAR:102465 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9334e53e-6dfd-4a90-b5c4-076ec234e916 CLINVAR:102465 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc5aca74-cdc6-415f-9cf2-1ba07c1e75a5 CLINVAR:2677430 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a822ab95-b984-44aa-af27-a34edc5d10b7 CLINVAR:2677430 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 880e421b-bc49-4f0b-8c42-d7381a46476e CLINVAR:102464 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42256439-1b74-47a2-8750-f214247c44e9 CLINVAR:102464 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e3ac4af7-6607-42e5-b608-9f41d8fa8bc2 CLINVAR:1693239 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1902c920-40d1-4689-be46-18561a124e71 CLINVAR:1693239 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a905a82a-92f4-4cfd-95f6-25c9f414a1e6 CLINVAR:624 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d58dd76-d7ed-44c9-911c-19ec947eaba8 CLINVAR:624 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8beb5e71-31e4-47c4-9471-c20e70a42e21 CLINVAR:2573212 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 630f2ed2-1286-41a7-86fd-e61f91225a58 CLINVAR:2573212 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 153f512d-8459-4bcb-a84e-a610ede0ca42 CLINVAR:102923 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3e2f414-2dfe-4a33-a122-5633ad4eba4f CLINVAR:102923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0fc77a68-e2c9-4d35-acfa-a2198fb3c044 CLINVAR:1327560 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8feb970f-2f72-4076-a8c9-9f4ddd9653be CLINVAR:1327560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5cf6a910-ba56-4956-b99f-e65f4f49307a CLINVAR:579 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8aa9a4d8-1963-4198-9c63-d015245f95d0 CLINVAR:579 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59342474-9625-4fa5-9dc6-514d2a5f21eb CLINVAR:932269 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1156525d-2512-41e7-8c50-f9da292e905b CLINVAR:932269 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9522b687-06f0-41ad-aba5-a584f6e4b012 CLINVAR:102921 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afefbbe2-72d3-4d43-9d11-21a0d7aca3bf CLINVAR:102921 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63cdd044-db3a-4f4c-a16f-2057afd058f5 CLINVAR:92756 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 897fab5c-eebf-4eca-a3ba-eea1d95911ca CLINVAR:92756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 448b3202-5de9-4528-84a0-2788adc44718 CLINVAR:2682170 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9859c41-5b21-4b0b-b1a6-2b42241d75b1 CLINVAR:2682170 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4815c159-4a07-4861-8244-5a7f2d0de869 CLINVAR:932271 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 655ecd64-ffdd-4ab1-97a5-7d6c002fd652 CLINVAR:932271 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel daf6a3c2-453d-4c3c-9600-39f7ecf7308e CLINVAR:595611 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24db951e-385b-4ba3-99ca-6e274d70d427 CLINVAR:595611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 13f86e6f-c538-4635-a067-52934120ecc6 CLINVAR:120298 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ba700d9-b6b1-49e3-abc5-1f4fcd971263 CLINVAR:120298 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 59d275c1-c404-4ce0-9414-ca13775f92d2 CLINVAR:932272 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62dd35a9-b01d-4c1d-9f6a-9c0ad7122ef1 CLINVAR:932272 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bec7aa3c-7077-4a09-a279-6bf39aca5fca CLINVAR:102918 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 540df1cc-6550-40b2-9f2f-be6a9c09613f CLINVAR:102918 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7718475b-25ef-41d7-a597-8b7430302290 CLINVAR:102915 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a15a5b13-5eec-4bb9-955d-5679db3af43a CLINVAR:102915 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4fc50fd1-278c-4dfa-8c9d-d6520c4569ed CLINVAR:102914 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 962132f3-6a10-4d84-9bd2-06a066852bb4 CLINVAR:102914 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d20bb2d5-11b8-490c-91ef-2c2b51b999cb CLINVAR:102913 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be1ffa79-b254-461c-82ae-9e6110742f75 CLINVAR:102913 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a694fd2-c837-4bad-af28-c2e6049e5466 CLINVAR:616 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afc79b45-5490-4999-a91e-2ef764e5a97b CLINVAR:616 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c4a48646-0ff9-47d9-a457-edc73b33f5f4 CLINVAR:102912 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b517b297-fd47-4a55-8492-429eb559564a CLINVAR:102912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41df0800-9beb-430b-acb4-71bb9ec7c0ce CLINVAR:102906 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e90d3178-88ca-474c-8cc1-57402c85698f CLINVAR:102906 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f639df64-d0ab-4a75-8eb9-e1dbead3776d CLINVAR:102907 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12f27afe-a232-44a1-97af-4e244dde816c CLINVAR:102907 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8aff5eb6-7d50-46b6-943a-d9162ccf3a32 CLINVAR:102905 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b650f2c4-6667-4207-91f1-e39cfb8c3945 CLINVAR:102905 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 366a2e7c-84d2-414e-af81-75042e5fa0bd CLINVAR:102904 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 037df647-f7f9-4735-b396-dce467c1aa3d CLINVAR:102904 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32d21eb9-389e-445a-9d70-1aa35ff5ea8b CLINVAR:102903 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76c10740-9657-4ce3-b3ee-186773fb1b33 CLINVAR:102903 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f016ca8a-7400-4839-bd19-3bf0282a6ff3 CLINVAR:1693234 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be44575d-f6ef-42fd-b1af-ca9fbdea0105 CLINVAR:1693234 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0136e20-8da9-4e14-b952-7a40ccc5b5eb CLINVAR:1458264 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d440d3d3-1bc9-4620-8c9e-2899f32e4598 CLINVAR:1458264 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6940adf4-6be4-4e05-802b-231243afdae6 CLINVAR:102901 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf6ee3ea-9a65-48e3-a5ab-82fd84d8553e CLINVAR:102901 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bce62977-aaf4-43b3-90ec-be28ce0dc9c0 CLINVAR:120297 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffbd8db3-bab8-47e8-9166-9d7c7b1a3496 CLINVAR:120297 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e7f38d9-e76d-4995-9066-fb20f4a7ab24 CLINVAR:578 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48808309-dfac-44d6-94e1-c777c9494d6c CLINVAR:578 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e11af594-2d35-4621-ace8-eedf5591237a CLINVAR:102899 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd9c8afe-d8cc-4456-b46d-0eb6210e5f1b CLINVAR:102899 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81717afd-fd8c-43b4-9753-e08cc23af821 CLINVAR:102898 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dacb2598-8202-439d-b559-dfe076d3c039 CLINVAR:102898 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01d656fa-e92e-4350-a0f9-400828aa5cb3 CLINVAR:92753 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b58d2dc-31fe-410c-9a8f-a02e4304dd60 CLINVAR:92753 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 61757754-ad7d-4525-885e-ebe6587f1e36 CLINVAR:1327567 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 599e2821-0abe-45cf-861a-fd2865043745 CLINVAR:1327567 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d937c420-1ad0-4af4-86b6-510be72c897e CLINVAR:102896 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8c6a5ab-d7db-47cc-96d7-897bfc5d19ac CLINVAR:102896 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a1ffbbb-46b9-4efa-aa2c-e31f6d911aed CLINVAR:102895 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4c3ed5f-c9b6-4353-9303-644c26ed35ff CLINVAR:102895 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel efa0ddb0-aea9-47da-a435-65705fbadf75 CLINVAR:1065385 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 705bea89-86ad-4638-b4ab-710916905f33 CLINVAR:1065385 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3bb4c549-bc72-4d7e-8c55-cd2ce212b31a CLINVAR:1693235 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3af5b86b-1d84-4eff-a14d-dae0adb83c36 CLINVAR:1693235 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2103c65d-767e-4988-b08e-a061f1b256d5 CLINVAR:120296 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57dbaa33-fd6e-4828-a69b-3e7e0b77a652 CLINVAR:120296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 600a2b46-c038-4397-a64e-e62deea8f5b9 CLINVAR:618 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be05ed6a-d848-4da2-90ee-266d685bf7b5 CLINVAR:618 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 70eb8663-e08d-45ba-a4ed-12356ddff99a CLINVAR:842394 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21de9537-f7c0-46f5-9423-35c27298d1f5 CLINVAR:842394 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00a40489-78ef-4464-b24a-1eab2d1c0b92 CLINVAR:102894 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03faa5dd-6032-4536-89ec-b920c4cbea2b CLINVAR:102894 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8138aed2-400d-4f68-a6b0-3bbdb1feeff0 CLINVAR:1065384 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac216381-ee1d-45e3-88d0-6b5259009c48 CLINVAR:1065384 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e585c3ab-8c5f-4ccc-93bf-1c48dbe5eabb CLINVAR:1065384 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel baf61cd7-4850-416a-822a-87d57499c93a CLINVAR:120292 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd07cc02-eb84-4062-a5ce-b6a52248f377 CLINVAR:120292 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb6b7b50-efc0-4bac-addc-0d48b5310e0a CLINVAR:120292 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 876bd4ee-ed22-4e4b-92fe-7ed67c02f404 CLINVAR:987762 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7b93e72-28eb-4f8f-ac13-f03b37ca02ee CLINVAR:987762 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ccb8b7af-52e9-4240-8f93-496013e867cc CLINVAR:987762 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8df2964e-6662-463f-a56a-4f5a739f0235 CLINVAR:987764 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ad02610-7bc8-4a4f-a01b-93b8d7cb3cbb CLINVAR:987764 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5acb0497-dd85-4b3c-9155-e80396e591b0 CLINVAR:987764 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 009f12f7-2b59-4262-a338-426010f7b162 CLINVAR:92752 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bcdc13bf-bcd8-48a8-99be-5afffcbf76ed CLINVAR:92752 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4dae8152-74ed-49b8-8300-c79b4aa180f8 CLINVAR:92752 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8327ef36-57f6-4018-a99b-8d56632f3502 CLINVAR:102892 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 380e456b-3d57-4273-83d5-2edc092c7ed4 CLINVAR:102892 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab5bfffb-84ae-47ca-ba16-169816b5dbc2 CLINVAR:102892 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b69e65b5-521a-4a2e-b9df-0b43cad26585 CLINVAR:102891 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32a1b9bc-afad-480b-adf8-c703c45c8e00 CLINVAR:102891 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e54ed551-0695-4023-96f5-ae283d628efb CLINVAR:102891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 726aeb12-7331-4c15-93be-38f45556d489 CLINVAR:4540586 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7eac23a9-21fa-47ea-a97f-67d9447e5e0a CLINVAR:4540586 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 938d4089-4aef-4158-95f3-902ddc2387af CLINVAR:4540586 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 877e9e56-81b3-4a1e-b256-20b34fcafe2d CLINVAR:558132 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afc66605-78cc-420b-b300-1e96fce40d30 CLINVAR:558132 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bed63e37-6d94-48d4-802a-c28ec6ca1288 CLINVAR:558132 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 305a1f5b-10bb-460b-8598-ec90b9eec92a CLINVAR:1185009 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 867b052e-7ff2-41e8-90e4-8f0b05c05584 CLINVAR:1185009 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37e2d15f-d6f3-4a0b-b7d6-71ac4cc21dc9 CLINVAR:1185009 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f6877be3-f19b-45f0-9728-bbefa115faa5 CLINVAR:102888 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9d9c46f-02d4-4b74-8c2d-424afe293a3e CLINVAR:102888 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bcb6d1fc-7f89-47d3-9a7c-86aae7b74465 CLINVAR:102888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbcf0439-c1cd-4e36-a20b-0c4a2ccf1671 CLINVAR:102890 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e169f3c5-d833-429f-bf38-13ad12a37663 CLINVAR:102890 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07d2c03a-389f-4440-85a3-1236fba28905 CLINVAR:102890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f6d6fb20-ebfc-4978-8646-d31bd20c8e6d CLINVAR:102889 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02051ea8-0539-4cc2-b179-5b7f6efb7371 CLINVAR:102889 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc9ca38f-0471-4f09-9606-18fc225a9e01 CLINVAR:102889 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b27cb36a-1fd5-4636-b7d6-48a0e8294ac8 CLINVAR:805826 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4022c8f-f391-4460-a0e3-53dc51e0d135 CLINVAR:805826 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d8957bf-5ea1-4685-b534-9861d87c8fb7 CLINVAR:805826 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ce3ba3a4-c374-40f6-a0b3-57c924fcd278 CLINVAR:805825 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffd4b959-5698-43c4-9792-d31a64758c5f CLINVAR:805825 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1aec1f8-df5f-47c9-9c5c-8ccdbda93c93 CLINVAR:805825 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb03cb86-4995-4084-9ed3-72b07fb45eb4 CLINVAR:805824 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4282f39-75a9-477b-998c-2d28fa91bd4b CLINVAR:805824 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6acf446-4b9f-42fc-8ee0-453c6058c705 CLINVAR:805824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4bc68881-4345-4079-9b83-bb806e22fe29 CLINVAR:102887 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86fbab50-24fc-4ac5-a106-ca66a58b7488 CLINVAR:102887 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dae3805a-86fb-4527-be14-15655758c05e CLINVAR:102887 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7cdf2688-b7ef-4de2-933f-67eacf8dd992 CLINVAR:92751 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cebcf45d-1a06-480a-8ac0-186a6f06ebd5 CLINVAR:92751 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b25e476-08d1-4b2a-8693-32ce8166b1c7 CLINVAR:92751 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f843a0a4-e506-4db7-b4e8-377091216e2c CLINVAR:805823 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5bbccef8-c597-4382-973b-29a1278aa3de CLINVAR:805823 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65a0a674-291b-4708-a6dc-1396a556064e CLINVAR:805823 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 54a8b60a-efef-45cf-a223-c3767368ea30 CLINVAR:92750 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a734ded-1c14-4b88-b5fc-a7e72ce834d6 CLINVAR:92750 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b693b6e7-781e-4828-83ff-9bbb0ceee4ca CLINVAR:92750 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb05674c-94d7-4185-bcaa-ac8a69caf22c CLINVAR:102885 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4b07f47-f01d-4d39-afa2-bbd1fceb5473 CLINVAR:102885 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b41608be-c8ef-4b5d-8480-2c71a41bf65f CLINVAR:102885 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b88e28a8-aa8b-4483-8c17-d5382c74f6b4 CLINVAR:102884 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb131c0a-cf3b-4ea9-a69e-a30181c5ec1c CLINVAR:102884 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e8aef17-376f-4fd3-a252-1870e3a61598 CLINVAR:102884 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13ecf0df-679b-47de-bff4-5c8a8fce43aa CLINVAR:4540589 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82a45002-af1e-4afa-afe5-bd0626547317 CLINVAR:4540589 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c20cb9f6-16f4-4407-9437-ccf0cd8a13cb CLINVAR:4540589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ce372d69-a9fd-45a9-a377-6dab6f0cc307 CLINVAR:626282 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 940ba5eb-f2da-4094-ba65-25553ff3864c CLINVAR:626282 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a2472aa-6907-4aed-81ae-c1f19b455c19 CLINVAR:626282 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a5dfee2a-43c7-497b-929c-7fb892edc544 CLINVAR:558612 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b52a4234-a997-4f40-92bb-f5d66ec671f0 CLINVAR:558612 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe4502e1-bf7e-4956-a2ef-a4cdcb8cacf8 CLINVAR:558612 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d187f3eb-c232-4605-9321-05932874a640 CLINVAR:805807 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce5be868-4e01-4ebf-8d4f-ce2dd3516aeb CLINVAR:805807 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 677f070d-919d-4a01-aa0c-4412d0ef14fb CLINVAR:805807 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 87f8a0c2-45a2-40f3-ba28-5cf4a45eea45 CLINVAR:102882 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a0fc58f-067f-4a3d-bef8-5cc08a6e041b CLINVAR:102882 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e418e06-5f84-468f-94c5-499ba7862cb9 CLINVAR:102882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d9a4df0-63a7-4c45-9b06-243dffe167a5 CLINVAR:458082 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f6cdbdc-d1df-4205-af37-15f64f7332fa CLINVAR:458082 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c7e1f99-b474-4bc7-9f05-fe39c0fc5166 CLINVAR:458082 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5315a2ac-daa7-4a4f-84d0-c78efb13fd08 CLINVAR:619164 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bffa08b-761d-4dc3-b5b9-5ea9237ebbb5 CLINVAR:619164 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa3a27da-d954-4a6f-8bd4-6f0adada35c8 CLINVAR:619164 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fef70228-66b3-4f1d-a22f-e7849d009e79 CLINVAR:102880 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2763a4b-ea40-43a5-afee-7a4e482bde9b CLINVAR:102880 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 211978e1-4e48-4b26-b8b4-846e08985455 CLINVAR:102880 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 980f4f81-23c1-4e39-b617-17720c51e172 CLINVAR:102878 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 684d46de-04cb-43aa-a993-287440a4ce0d CLINVAR:102878 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00f83ae1-dadd-46ae-85a8-26effe870346 CLINVAR:102878 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8b65baf2-46fd-456f-ae7f-63d6ac74c916 CLINVAR:102877 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f460085-5621-4d39-8a0b-c4f820b9492c CLINVAR:102877 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f74e4fa7-823c-4602-8eaf-017a3cdb5830 CLINVAR:102877 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b370ff6a-5af3-4b96-9864-f05771e7bb01 CLINVAR:1065381 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c1dc880-8ef9-4401-a9c8-16be606bf735 CLINVAR:1065381 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84481f81-232c-45f9-8bfc-ca1fc8f9fe1d CLINVAR:1065381 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 139c2357-5858-4208-b81a-3c2d44c1f9dd CLINVAR:1065376 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22b1c1be-e568-4f1a-bd8a-d52e2035d154 CLINVAR:1065376 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3242ec54-716e-4434-9e48-b01efacd846c CLINVAR:1065376 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfd3f1c9-54ee-420d-b62a-a84001499522 CLINVAR:102873 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2806367-b4a9-47d3-bb14-6450db934d05 CLINVAR:102873 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b138ced-06d0-40f5-8a2f-392ece5a270f CLINVAR:102873 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c87825b8-bd7d-403f-9ae2-c475deae0bd3 CLINVAR:984532 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 133ace1e-5a43-4854-b1a3-e05bff74cfac CLINVAR:984532 biolink:is_sequence_variant_of NCBIGene:126861615 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20de33e1-f2e6-48c3-a170-40e4abc0d857 CLINVAR:984532 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 611cb718-08de-4f19-9314-1793ee7bb881 CLINVAR:439228 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b18c2256-c858-458f-bf2a-e7d7d6d72f7b CLINVAR:439228 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4828674c-28ae-4f61-822c-efab050e855e CLINVAR:102871 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 677b7400-02e2-4c7a-af01-4267402efbec CLINVAR:102871 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 11509fd8-eb6d-4003-85fd-e6c95c51e912 CLINVAR:614 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0858b161-5c5f-4614-b1ff-60385e57a7c5 CLINVAR:614 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c26f585-3001-4c3e-95be-9495572740b6 CLINVAR:102869 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67b538fc-fbb4-4364-ac55-803e69350b20 CLINVAR:102869 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 612e040c-6380-483d-b0f9-e3693beff9e6 CLINVAR:599 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a326f5b9-4308-4e6a-9c71-c23a54a27b3a CLINVAR:599 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a4e0d47-e92a-409d-8185-75037b61d46b CLINVAR:589 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa3e5e90-c502-427b-9976-37e0e4c5e634 CLINVAR:589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c819e038-ddfc-436a-9e6f-9c54b02e3d76 CLINVAR:92749 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05d3c5cd-b26e-415d-aeb3-dd5f498028fa CLINVAR:92749 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a0d61653-56ce-44ff-ab94-d288277a5f3a CLINVAR:102867 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cebbcd94-9dbb-4543-b5dc-b0ca23b2b5eb CLINVAR:102867 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 030211b5-d1a0-4dfc-ba7e-eab8c86388ff CLINVAR:120288 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac3da7fe-99dc-4c7c-8cec-0a33830847d9 CLINVAR:120288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bce18c40-4129-41b0-832b-8b54dbb39473 CLINVAR:1693227 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e068af69-9fb9-4791-ad7c-9bfaf4fb83b9 CLINVAR:1693227 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dbdbf620-7e2e-4ba2-82bb-f952bc841480 CLINVAR:102863 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 015a6cb5-9b7c-4abc-bac8-acbcac238dc3 CLINVAR:102863 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1688942c-eee3-411f-b569-5dca6e2feefd CLINVAR:932254 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7973ae6-e095-4c30-b069-3dd2174d56f9 CLINVAR:932254 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e60b040d-3dcf-447e-ad28-edf79ccd7dba CLINVAR:102862 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 319ba995-128d-43da-ab45-41891fbf2e0f CLINVAR:102862 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 94d915b7-94e8-4a82-8365-a53d2a0f44a9 CLINVAR:102852 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d2ac1eb-1082-41a0-8821-b415000fd51e CLINVAR:102852 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a581301e-a2aa-4612-8ef1-60f1745fb4c3 CLINVAR:102861 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1e14a9a-6963-4a69-836a-6e208596a548 CLINVAR:102861 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a955f0c4-56ac-40bc-8dc4-5334ea261704 CLINVAR:102860 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49b3446f-aa6f-4aa0-ad55-2d1cf24adb78 CLINVAR:102860 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b854b2a3-8c10-405b-af77-86a1db38456b CLINVAR:603 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c73cf8f-79e9-40c6-89f1-9f270015ebc5 CLINVAR:603 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 718d44f2-b362-486b-a0cd-64210e4b4612 CLINVAR:102858 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0bb6f5e7-cbc4-4d9c-b434-b1b27f4486b5 CLINVAR:102858 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 150decc4-8804-47c3-87b8-03f8a68873bf CLINVAR:102857 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 457e43e4-5eee-47e2-bb45-c74bdcb36c13 CLINVAR:102857 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f16a6095-c148-4b7d-aa9f-9afa3042fb3a CLINVAR:102856 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 857df5bd-3269-480b-913c-94eaf12e89a3 CLINVAR:102856 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b5cd5952-12e0-4b17-a90a-44b89d52514c CLINVAR:102855 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2339b9e-45e1-4442-bf79-fc0dd4a4f6d6 CLINVAR:102855 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ac90a0a-b8f6-481a-9535-940e15e438e5 CLINVAR:102854 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93fac40c-5fda-4dc2-9e58-81d359d4bbb3 CLINVAR:102854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9f7ce4e0-1242-4343-859e-c1f9b445f4d8 CLINVAR:102853 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c272127-9680-4f1e-8432-61eb03f0ccd6 CLINVAR:102853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9c6c7f4-a984-4b94-8c41-62ab64fad355 CLINVAR:598 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f373f235-b272-4244-81cd-48948737f990 CLINVAR:598 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2ff1d69a-184f-4e3b-9c78-df7f40dbf2a2 CLINVAR:102848 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03afd969-fda7-4dce-a6d1-8b083658272d CLINVAR:102848 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7297380c-1f4c-4759-9375-e812103b9dfa CLINVAR:596 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b7cd51d-c7c9-49f4-87f4-3841cf0d46ae CLINVAR:596 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e694205-13c0-47b9-9385-fbdc61d36e8e CLINVAR:619152 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8a11eeb-6f36-4b03-a7a7-c628082b0448 CLINVAR:619152 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3809ec58-1dbe-41d7-91c4-c35121bf1793 CLINVAR:102850 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8bbf8faf-08d2-4d0e-be8f-83a7861b3bf6 CLINVAR:102850 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 57217c13-939d-4043-bc20-82df571796b6 CLINVAR:102846 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57c62d50-88a8-4749-8e34-61d0e7ff7c6b CLINVAR:102846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4bc47ec-616f-4316-afb2-34a5aacc0c8f CLINVAR:102844 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb32d4ee-3c0d-479b-a371-e9e494bc7ffd CLINVAR:102844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25757ff4-fb01-4b4e-a1e0-1d426cb3a835 CLINVAR:102842 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0c5b87a-a68c-46cf-b07d-204e83c335f3 CLINVAR:102842 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8bf075c1-0e13-41ee-ba95-7275c4577a6d CLINVAR:987781 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 816b1893-6202-47d1-97b0-0815c6a4e3f4 CLINVAR:987781 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1eadd558-2ed7-4eb7-9a4d-7fa7ce5d0ba5 CLINVAR:619165 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc6205ed-f362-40a9-b565-144b449db900 CLINVAR:619165 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 03044f26-7312-4eb7-a213-6e27cf6e28d6 CLINVAR:102840 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d6df54c-7257-4d6e-87df-c9587ceba675 CLINVAR:102840 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2d0bafeb-f6a3-411c-956f-e42ccf637162 CLINVAR:556296 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73edf81d-fb76-4068-9fb6-0bba6d02f3bb CLINVAR:556296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a13db67b-551a-4dd1-8f3d-433b07659263 CLINVAR:665198 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52ab218c-17cc-448d-b128-66d9d94c9ead CLINVAR:665198 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68d5f0a9-d606-4b24-b071-5bc2b2f8c973 CLINVAR:102839 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aba8e786-9fe6-494e-bf12-81095f99c5fe CLINVAR:102839 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5592a02f-0f55-458f-8939-fa47bcdad513 CLINVAR:120286 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d3eb959-93f5-47cf-b08f-b766842a31ab CLINVAR:120286 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 92444c37-a94a-4078-8f9a-df770adae632 CLINVAR:932259 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eeca1ce1-1245-4e85-b7c6-e8276c22c381 CLINVAR:932259 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 437ff51b-8f39-4231-9789-0bb66b6da711 CLINVAR:102836 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3629fc78-0cee-4b19-9d62-54d88cdde9f3 CLINVAR:102836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cfab8361-55ce-405b-ba78-696ebdb5df2c CLINVAR:619150 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e581f5f7-f2e0-48aa-9195-79527f1ce66f CLINVAR:619150 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b11b570-786f-444b-9dd7-aeab9f07a895 CLINVAR:120285 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1bd20c7-7c9f-4b75-a3e4-312273cc3dae CLINVAR:120285 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 996a8a35-a659-43da-9966-af641a59de92 CLINVAR:585208 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9056c0c8-f522-4711-8a36-85c61fb9bfd7 CLINVAR:585208 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b1c5c06a-f3c6-4539-bdda-698f8496dcb1 CLINVAR:102832 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0bb03fb9-8943-418c-9a69-14299c8a6cfc CLINVAR:102832 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2fd225a8-9635-41d4-9370-7e6ffdab259b CLINVAR:582 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26207ac3-3c8d-4894-925b-4021749fe6fd CLINVAR:582 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13d5d490-681d-41ba-9a6e-95e76fde761e CLINVAR:610 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6d92994-ad09-4f99-b113-6bdb320e6e6d CLINVAR:610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5cf7edee-c6b7-4fb4-a5b0-07e60c45df60 CLINVAR:619159 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49aface9-537c-4dec-8398-27fad04f40a6 CLINVAR:619159 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cf0d1cfa-6dc6-4f77-aee5-22e944fa9f0b CLINVAR:102830 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1428c73c-4cb8-4e55-8b3d-68909794b856 CLINVAR:102830 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d918632f-a1e3-4eba-8c50-65c65349e5a5 CLINVAR:102827 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1b35b27-c02b-409f-8829-8e9c94a7a7eb CLINVAR:102827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a6219f2e-082e-45ad-99b7-c2ad945def64 CLINVAR:932252 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10742eba-f6ac-4db2-98a5-010dc4579e10 CLINVAR:932252 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a3122012-50ad-42b1-847a-db7d53830a1d CLINVAR:102824 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d46b6824-c17b-4d62-80cc-e5148d1081e5 CLINVAR:102824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbbdb483-9793-4a3a-87ce-bf4891358f54 CLINVAR:1693230 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 383c5146-aa2a-4f9a-859c-2faa5d9380f0 CLINVAR:1693230 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2de57c4-5c85-4758-b465-7518c6030f5d CLINVAR:584 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 816bcfb0-35a3-448f-b027-7918052fc2bd CLINVAR:584 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2833b367-6d34-4f18-9da6-8cc0c0df1f1a CLINVAR:102823 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97e0d64c-3813-4b65-be6f-38e4a2d437e5 CLINVAR:102823 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab3d7b6d-71e8-4ccf-87d4-bc09c8beb264 CLINVAR:1065386 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf8f2ae2-e098-42cb-b3c9-7d79c629e37b CLINVAR:1065386 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8293ca45-f138-451f-86ee-6309da8ce3a2 CLINVAR:102822 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5fc50a6-1efa-44b1-adbe-b11a9e30368f CLINVAR:102822 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 767d3e01-c2b6-4df7-b579-4e96d6203533 CLINVAR:370982 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d69799e4-4aff-4ceb-ade1-d31173e041c5 CLINVAR:370982 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 478cc7fa-7c81-452c-835b-89ae9c5f7a3a CLINVAR:102821 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a232e4b9-33f9-4aea-b16b-2e31ab57e118 CLINVAR:102821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 700acd1c-6961-4d42-a498-2a6f14a2e7dd CLINVAR:1065372 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7efcca4a-94d7-465b-a66b-95ff4c57cea4 CLINVAR:1065372 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b559b0ce-29ca-43eb-8645-bed976656eb4 CLINVAR:102816 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bff471b6-88b6-45c5-adf2-76ce239b4815 CLINVAR:102816 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e0fdefd7-af73-42eb-afd7-941e810b6b07 CLINVAR:102815 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6082441a-b86d-45da-9ab0-7fe97a5f3b73 CLINVAR:102815 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2678b58f-41eb-4799-afef-d4c8654782c0 CLINVAR:102813 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37a3f089-12ac-4c3c-936b-54629d70b0e8 CLINVAR:102813 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 39630c6d-359a-40f1-9b64-89aaf2cc03ac CLINVAR:632 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b782d87c-9d35-42ad-89e9-edc66a0d5c29 CLINVAR:632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 368f7920-f1b4-4e51-8b27-cc574da1e717 CLINVAR:102810 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc461ea5-86bf-45cb-a788-f84f4992ce8b CLINVAR:102810 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d10400ef-6a7a-4d77-965a-f0fa6f1e20f0 CLINVAR:102809 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f60539f1-b644-48c3-8f48-31417d1e8440 CLINVAR:102809 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0e07cab-e050-4bf0-bd38-ff6332fd5ff8 CLINVAR:621 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b129bdc-2d9e-409c-b736-160fd7deeb50 CLINVAR:621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8004e1f0-6ce7-48a8-b2ef-bc824b878a42 CLINVAR:1327557 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b839b87-62ea-49e2-8292-fc23fa69b1af CLINVAR:1327557 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6edd7f27-f56c-43a2-91c5-96d8eaa89e7b CLINVAR:102808 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bd9779b-a341-4b85-8440-51dcae8fd767 CLINVAR:102808 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e232b3f7-62db-47b6-ba8b-b2c37470a1af CLINVAR:588 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46ceae6c-e06e-48ee-86a4-8faf199c001f CLINVAR:588 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2445bda1-63e9-4a88-a2f5-c1208ae3fd64 CLINVAR:102807 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12362bd0-f3e3-451b-b835-78664f033e97 CLINVAR:102807 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d0ae9c5-65b0-408f-975a-5d16197dc9fb CLINVAR:102806 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 502b1fc0-6060-4637-ac4a-503f7a1186a2 CLINVAR:102806 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15ef432a-c627-4c79-b839-98efcfbdedef CLINVAR:102805 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6fdf63c3-666b-44a8-858a-e5c356abd2d8 CLINVAR:102805 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6af632d9-1606-4801-b53f-9cd11567f5b6 CLINVAR:102804 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 048dc513-805e-4b7f-b641-e16a64e57c47 CLINVAR:102804 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7801144-03ce-443a-aad2-2ef93da6a715 CLINVAR:102803 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b46c720a-e945-4477-93fd-d57502fe95e0 CLINVAR:102803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 881b3092-b95e-4cba-8d81-225917b3960e CLINVAR:102802 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b845f25f-264c-46ea-b6ba-b64731c4e0e6 CLINVAR:102802 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c0969d8a-e812-4da5-bbe0-102cf2e0bef4 CLINVAR:102801 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89d2a53b-c98a-4613-833c-54ac470157f1 CLINVAR:102801 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c6115fd5-de45-4a6e-966e-3d922017a575 CLINVAR:102800 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61d87b04-11c1-4e36-8090-1aed81a76b0f CLINVAR:102800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3c2e0c90-60f4-4e06-828f-05ee302f8aee CLINVAR:102799 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 239afe9c-0593-4ead-864a-97c0c32675ae CLINVAR:102799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6eb3b34-5a7a-47a2-b9f4-3e506f82c8a2 CLINVAR:102798 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec59b9de-e06e-4868-8432-b4996832f013 CLINVAR:102798 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57336118-5532-4b33-a684-ffe4e21a41c3 CLINVAR:102797 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4aef70b9-b252-4682-acd1-6c1f59a09ba6 CLINVAR:102797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63e25959-9195-4c1d-86c5-83b830ae46db CLINVAR:619166 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bf053d4-e371-4f75-b304-f2df6924b26e CLINVAR:619166 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aa2b347d-6c66-4022-901d-7de50f546e97 CLINVAR:102796 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf90aa53-ef58-4ec8-b903-acb7ae933832 CLINVAR:102796 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b656c749-d523-4aef-b726-b6e36a07ee07 CLINVAR:987774 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a5e949a-1311-44b2-89be-bb15591a1050 CLINVAR:987774 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bdb3527b-f962-4b75-b9e4-fc91c3d051fa CLINVAR:102793 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5aeefe3e-3e00-475d-bfa3-9be9d610ce85 CLINVAR:102793 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3569379b-0a59-468f-b2f1-79d17d99174d CLINVAR:805819 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58c9eb9d-46be-417f-b490-2c8833b1d2df CLINVAR:805819 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e7c1de2-dfb6-48e7-8a82-b37e4fa41921 CLINVAR:102794 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c94c4807-ceaa-4627-ba7d-cb7aeed7d7f9 CLINVAR:102794 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7b7835b-ac17-48f4-8874-335f14bb7a62 CLINVAR:102791 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b597212-08eb-435b-bed7-429f690a7315 CLINVAR:102791 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a7cc6353-1208-4f54-b60c-a732e92775a2 CLINVAR:1693231 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar facc4a41-5a25-4092-8a18-8199443653b2 CLINVAR:1693231 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90a759bc-c089-4b08-9ab9-94eab232a29c CLINVAR:1327558 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7dcd4347-e399-4c1c-a702-fc7795a85b07 CLINVAR:1327558 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62b15011-8570-4812-a0e4-b4e8c10974bb CLINVAR:102790 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a735e50f-9da2-432a-a9ac-0f1cda63aa4f CLINVAR:102790 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 048ff97d-643d-4c73-908a-d0c12f9e54bd CLINVAR:619163 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70a1b2ab-3b5f-4d88-9bd9-5912e6d2a17b CLINVAR:619163 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34bbd1e1-bfb7-4b6d-9247-59bc5de439a5 CLINVAR:102788 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aad53cc5-9d56-4843-97a3-344375c74663 CLINVAR:102788 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b605786e-a4e5-41b9-95b6-42852cbf350f CLINVAR:619160 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a080f64b-9269-4eff-b947-a263ed1e25fd CLINVAR:619160 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4c596a5c-2b5b-4fc5-a7f2-add6b3d3c96a CLINVAR:987779 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1208a87-edff-4e68-9907-3e1781cc7f61 CLINVAR:987779 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63440cf7-d767-4a67-a6b3-c0d1d92261e7 CLINVAR:557425 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d33313d-6206-4621-8b28-b11d6880c790 CLINVAR:557425 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 349773ab-47cf-4594-a73f-0fd8e14f0d61 CLINVAR:102784 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38a16382-9724-47af-ac61-413d664e7053 CLINVAR:102784 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8f17c8c8-980c-4024-a8fa-fd15dc5eaf67 CLINVAR:576828 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd9af63a-781f-47de-9f2b-5944eb1654db CLINVAR:576828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 485491c3-de71-49a1-943a-9f880469ecb8 CLINVAR:3393467 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06ecb4e7-05f6-4e6e-9d6e-87fd4215df02 CLINVAR:3393467 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8863ecb7-cae2-4486-8ae6-738afe3d8611 CLINVAR:1065380 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0451d254-38ef-4dfb-82b3-9765ce7c78d8 CLINVAR:1065380 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e17e5f7e-b1d6-4c6b-a8a7-36329b8aa57d CLINVAR:987754 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74408e20-0f77-4bad-b697-c83131cab51e CLINVAR:987754 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3619ec0-b57e-43f3-b675-e86eec6fdaa8 CLINVAR:1327559 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75104a8b-52fa-4bcb-b452-d4acd6746ae4 CLINVAR:1327559 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ae6438ae-38ed-4367-ac5f-0b39ef40d68e CLINVAR:1065379 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aef34c43-c06c-49c1-ad14-169da9d44357 CLINVAR:1065379 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fdda237c-69f2-4e07-8e4b-5393aec442f4 CLINVAR:102782 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45a69006-a52d-4470-aaa4-b2650b1361a9 CLINVAR:102782 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5ab96881-8811-461b-8d12-88681d6ca2bd CLINVAR:932251 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e650654-38b9-4956-a284-3ae22416b0b5 CLINVAR:932251 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bea3e5e2-bd30-4350-b8cf-1025dda0b5a7 CLINVAR:1065371 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3fe4c43-7ba2-4396-b740-0d562b6068c3 CLINVAR:1065371 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d18f5cf1-d5c5-4003-975d-7eebeda60f5f CLINVAR:932277 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc40f911-ee1f-4405-bddf-705db7d65c6c CLINVAR:932277 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5825fb99-0350-412c-880b-45daa0134c00 CLINVAR:102780 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b4bb241-c3d8-45ee-9b41-a837db865ea3 CLINVAR:102780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1799c80a-084a-4738-b938-c836fa0cf390 CLINVAR:2682162 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a20bf7b-0b8a-4a24-b302-aa1281b46635 CLINVAR:2682162 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e616ebe4-30a1-4cf3-83ab-e6a77463c4e1 CLINVAR:549912 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b00fe49-2349-4e8f-95bd-ac3e0ceef3d9 CLINVAR:549912 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c00cad27-07c9-4de7-899f-4cf3acf0b885 CLINVAR:2682169 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba372e36-9f6e-4b1f-8032-d85669944a58 CLINVAR:2682169 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af622714-7e33-4686-98d7-be22df965f89 CLINVAR:133249 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb2bcb96-4ef4-47cc-8228-30d09e957c83 CLINVAR:133249 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1282881-e6b6-4c07-9c7e-c51ecdf696d4 CLINVAR:102776 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c82b452-52e5-48cf-899b-2e0fda65306c CLINVAR:102776 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 69a934d6-c1d8-489a-ad7d-f648944ace30 CLINVAR:102775 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53b5aca1-20ed-47fc-94de-435a9009f87e CLINVAR:102775 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 96118459-66f9-4c5b-a5df-d17f39cf748d CLINVAR:609 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0689c91a-7c92-4aed-8640-3466d7c8ea78 CLINVAR:609 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ca18330a-ae67-405a-bc7d-03aba7604453 CLINVAR:932276 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar beec3d35-5a6f-4958-87e3-4254cccedb69 CLINVAR:932276 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cea68689-9d25-4af7-b475-e8569037bcd8 CLINVAR:102773 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 846fd96d-c40c-4d9a-bfdd-14be8a7f6180 CLINVAR:102773 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7d35836-2ce4-4ba2-a07e-4c4667fb1f31 CLINVAR:102771 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d58536c8-9bce-4771-9da4-f1375c598cda CLINVAR:102771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3cb16c82-6c8b-432a-a69f-26a029020bb5 CLINVAR:102769 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41bc4250-443b-46fb-82c9-9546b4789954 CLINVAR:102769 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56fa473c-972c-45c3-8f86-2cd70f0933d3 CLINVAR:92747 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e7355dd-ff6e-4a43-bf2e-a11ac4811281 CLINVAR:92747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf7808a1-bf04-429e-bb75-093ccddaded0 CLINVAR:102768 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e22a9bc-8d21-443a-a4d5-c1b8147b00f6 CLINVAR:102768 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c416f430-7a19-4bc6-b063-3dc7f16c2abf CLINVAR:102767 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81efc18d-0948-4dd7-86f1-f74e0f3f4905 CLINVAR:102767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 697653ec-8d8a-4ac9-811c-4f2f0bf28e96 CLINVAR:102766 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8aec6b8-c667-4b65-b06e-89e63c86ec5a CLINVAR:102766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9eec51ff-6e68-401c-bb2f-4fee4b6f6979 CLINVAR:102765 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 021517dc-eef4-4e0e-bdf1-23ecc5c47fa0 CLINVAR:102765 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel db1f6a3b-c32d-4393-babd-208aaa9709ac CLINVAR:102763 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e35bce69-c5b2-434e-bc8c-3516686d81b3 CLINVAR:102763 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 386e8516-ba70-4631-ac63-6393b76dfe33 CLINVAR:556660 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cac1f1d-2c49-487a-b531-9cf67ef367a5 CLINVAR:556660 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f3cbdab-0611-48cb-8788-e036347b43be CLINVAR:102762 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3305f0c-4527-4855-bacf-48b23dab4eda CLINVAR:102762 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1d85cf20-4e62-4187-84d2-65d056bca6a4 CLINVAR:102747 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44e8d4fa-f496-4013-8b79-d6434a1ca418 CLINVAR:102747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c61d966-d6b9-4f82-842a-48b328c21f25 CLINVAR:102746 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a30cde4-bea2-49db-a1b4-294ab3854f13 CLINVAR:102746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38ab59d9-0591-4750-9ca1-afeb797876ce CLINVAR:102759 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8bf5df51-8b47-4f21-ba02-0d9c52eb3b7e CLINVAR:102759 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1a6a6767-0099-47e6-80ca-e4049ebfd162 CLINVAR:102758 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0dd67b98-101e-4ecd-9f28-0878952c8512 CLINVAR:102758 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c2824d9-b379-4f9b-afbe-66ca821e9b1f CLINVAR:590 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e14c3d36-9c7e-48cd-9761-37b409b79b60 CLINVAR:590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aab31350-427c-415a-a975-18a00823e81e CLINVAR:102755 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f848ce60-c993-4cd7-8cb1-ef2fd1ac9486 CLINVAR:102755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7e578c2b-46bf-493b-961b-db8f99f0d099 CLINVAR:102743 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cb0e4e2-ab96-43a4-8baa-d758275ef535 CLINVAR:102743 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6319408f-823f-478d-ae8b-60fcab6bc33e CLINVAR:987777 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed2b742d-9f44-4fe7-b296-0b16eac67651 CLINVAR:987777 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb5d98a9-81ef-48be-9c4d-acf267dcd1eb CLINVAR:102754 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfefdc4e-39f2-4066-9883-505ea6fd2867 CLINVAR:102754 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a3a51727-0565-498f-9e51-51466cbe98bd CLINVAR:3393465 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd9e4fa7-eff7-4214-8c65-b6524457cb52 CLINVAR:3393465 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5ff5bf01-2c60-4a1c-bd06-814f0d6b6804 CLINVAR:1327548 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be0ac76c-94a8-44d2-82d6-f34ff79ba400 CLINVAR:1327548 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9d80e537-3100-403a-be02-7fe583a97b1a CLINVAR:2573213 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8341464b-91ec-4271-8968-5d21d4202108 CLINVAR:2573213 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c7b959f0-5bbb-4cb0-b741-a99a4701f53f CLINVAR:1460083 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 004c34b0-75cd-45e1-bce5-967e271ea758 CLINVAR:1460083 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9f85feb9-0baa-4089-b371-c93dfaa34e15 CLINVAR:102752 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5f944f7-b0a3-4267-b868-701593d1a77e CLINVAR:102752 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0675c33a-7867-40a9-9e6e-6770aa4321ef CLINVAR:102748 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50e54184-f805-4f6d-a0e5-33867237b845 CLINVAR:102748 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da7127ba-8675-43ba-95da-2a0fadb3c028 CLINVAR:2682159 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 887a0e51-d981-4a78-b29a-bd9de6d919cb CLINVAR:2682159 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15e235a9-9c99-4332-8686-71097c7dcefb CLINVAR:120280 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36df268b-5745-413f-b7b3-3a8561b29766 CLINVAR:120280 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a33dd616-d6e3-486c-b250-abd2b0faf950 CLINVAR:625288 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 684cfa35-57dd-4604-9784-061905db68b6 CLINVAR:625288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76c56809-c710-4555-ab83-052bd42748c2 CLINVAR:987923 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc75c8a4-add6-411b-8b67-79462a4d2c47 CLINVAR:987923 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 616a2bc6-5fec-436d-8f55-a16f8c219ae9 CLINVAR:102741 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1864c9a6-7db9-441b-b1ee-9afa31639fcf CLINVAR:102741 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb42241d-fefb-4cc8-9517-931cdc3368d5 CLINVAR:102742 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60e095c9-e615-417e-8c65-44da68469f4d CLINVAR:102742 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0e0cdee9-c975-4fdc-965b-b3d9856f62fc CLINVAR:1065370 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8a322da-b87b-451d-bb94-63508e08dbc7 CLINVAR:1065370 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 80e64bf9-aec2-476f-ac89-b15f5475cce9 CLINVAR:102738 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e1b325d-cd2e-44e1-acfb-8f536b765ce1 CLINVAR:102738 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 469fef3a-9038-41df-81ff-a7e8b65e2d6c CLINVAR:102737 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b54b64f-3eb0-47d0-9002-eed38cb25c91 CLINVAR:102737 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 05daa980-5b4e-47a1-b6da-4e615746a501 CLINVAR:102736 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab243781-2183-436c-8469-0b761a92653b CLINVAR:102736 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fdfa477b-4f1f-424e-aa79-2e43b38bc945 CLINVAR:3393462 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20c91e0e-25fd-47b8-ab37-4d2135667ee1 CLINVAR:3393462 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3de97ee9-3e92-4454-a0f8-8bad71232e64 CLINVAR:102734 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98c0d7d0-8de3-4e34-aedc-0b2db5166518 CLINVAR:102734 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7202b730-4cdb-49d5-b525-681b60da6788 CLINVAR:102735 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1b082c4-3a7d-4fab-a881-0cfe63c0017f CLINVAR:102735 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 49773b58-3747-4326-88dc-0d8225c554e9 CLINVAR:102733 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2bf5f318-9d47-46fe-9a08-d5e8551a0b93 CLINVAR:102733 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4196174-48a1-466c-873a-22d93bbb58db CLINVAR:3393466 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e2d0cac-81e5-40c9-a8eb-09af92d8a14f CLINVAR:3393466 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4ca94210-18b4-4b27-928b-900b3e3ac10f CLINVAR:987759 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e69a679e-ff96-43cd-8d6a-7b0bc987b740 CLINVAR:987759 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3301b26-9d21-4c4e-bff9-b17ba20b4b74 CLINVAR:3393468 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f968888-203c-4615-afaf-cf48a53b7e63 CLINVAR:3393468 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bcdf3cae-5d40-4c7d-8fdf-fe86e652c36f CLINVAR:120278 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0122ceb-abf6-437f-a65a-34f4dcee303d CLINVAR:120278 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ae6bba29-03f0-4795-bad6-3b681c9486c0 CLINVAR:102732 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34d1e28d-3161-4189-a398-4fc8edbf9a7a CLINVAR:102732 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2bce2cbf-e9c4-4ecd-bcdb-b0528304f28b CLINVAR:987763 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43f93833-e655-485c-ad42-5006a8415fe8 CLINVAR:987763 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e9dcb04e-c66b-458f-bb8c-200e613d1ee9 CLINVAR:102731 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 536604c7-aac5-412a-8dcf-ea654fa261dd CLINVAR:102731 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7b3541cf-d092-4ced-96a7-4d82a0ea4bb6 CLINVAR:102730 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c72f799c-2334-48fd-b012-6502493bb9f7 CLINVAR:102730 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 91e98321-7f6b-4b73-88c6-85074d27b6b9 CLINVAR:102729 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89f6d1d4-cee3-4f23-82b9-71203da733e2 CLINVAR:102729 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 48911e85-33bf-40e6-b70f-c47192b99678 CLINVAR:102728 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4929617a-b705-4a75-adb2-14b4a72a84fd CLINVAR:102728 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c9f36683-84f4-4c84-b9ab-faab5621378b CLINVAR:92746 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae079f75-d881-4bf8-8514-31915b5ccbae CLINVAR:92746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc07d735-8fef-49ab-97af-e5e36ec06b22 CLINVAR:928885 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65288de2-a6a4-4c3c-b120-ce7b21bf377c CLINVAR:928885 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ed23805-212b-4c27-941b-81178188ae9c CLINVAR:102727 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4445fc8-2b05-48d5-a9c5-ebc52917c6e4 CLINVAR:102727 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5d75f52-41cd-42ff-b266-710d26eb1b3b CLINVAR:102726 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a903ba67-d6a3-4fa7-af92-459cc1458278 CLINVAR:102726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7b7bb82-5001-4f5b-8b26-be87fb5ad63b CLINVAR:631 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed6f8496-b100-44be-8008-5666e582ec87 CLINVAR:631 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6eeda3c7-8e7d-4fd8-a829-d664769b3fda CLINVAR:102724 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86227546-f9e8-41f4-a546-f2f9fee9ef5a CLINVAR:102724 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c34ca84-044f-464e-abd3-b785046a7eb9 CLINVAR:102723 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe58fd07-b5aa-4918-bca4-80a0b63b53fb CLINVAR:102723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 704b3faf-63f3-42b2-8fed-dcb603db9e22 CLINVAR:555366 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6afe9f09-405f-4010-9e47-17a3fce38ca8 CLINVAR:555366 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 689e492f-d4d6-4641-98fa-0143f68f669d CLINVAR:102721 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c609eaf-cfd2-4cd8-a477-745ea12a45ff CLINVAR:102721 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68748a23-313b-4855-ba6b-9edacdfb4fca CLINVAR:2137408 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba076d01-3d04-48eb-bed4-a730f010fb16 CLINVAR:2137408 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9230c86e-4373-489f-a8ad-daf229d26678 CLINVAR:102720 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 589628e8-bbdd-46f8-9d37-adff297316a7 CLINVAR:102720 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4f855b0f-5478-4330-b0db-46140ba0ca2b CLINVAR:664621 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f8f641b-55d3-4ea9-9f22-210ec10041f0 CLINVAR:664621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ff93d872-8cc9-4f4b-87fb-cfd3538b7724 CLINVAR:102718 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45427572-1d97-4178-a50f-f8f40c105216 CLINVAR:102718 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33c4976b-7a80-4103-9063-274d18885728 CLINVAR:102717 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd2bcbae-68d1-4ee7-88ff-4edc4046dc8a CLINVAR:102717 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d607588c-22ad-48d9-95c9-68109329cef7 CLINVAR:4540587 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84c0bdca-14bd-48e3-b243-23acd3cabfd2 CLINVAR:4540587 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bba5d23a-21bf-4946-99b8-eb05cc150592 CLINVAR:102716 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05c88a93-3945-49ed-b661-116acf263ddb CLINVAR:102716 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a933ea04-0f21-4dda-a907-828828cc8e66 CLINVAR:1810391 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b421412-8fc6-49fc-8b44-09eb22cc02da CLINVAR:1810391 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2415f26-3bd0-41f7-a857-93036701de27 CLINVAR:987761 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d8a0827-64eb-420e-aad8-32e3b6f5eaef CLINVAR:987761 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae48290b-5123-4d6f-b9ba-7ae132c6c8b2 CLINVAR:551658 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7deb6ce8-2ed6-4943-9a46-289b5f5563c3 CLINVAR:551658 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbe7657e-4259-4527-a905-5ce9e564dd14 CLINVAR:1065383 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15adace6-f9e9-4c52-8c66-0391622ced70 CLINVAR:1065383 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4e44bd8-e421-402b-bd1c-2df8d64422f9 CLINVAR:1065382 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa6bde77-4082-4656-912f-b9d429b95b83 CLINVAR:1065382 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a732097-0183-47c1-8563-db136f655c38 CLINVAR:102681 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5e33d51-6a18-44a5-8b68-8b35d371b33f CLINVAR:102681 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ebcd8364-5a41-422f-9ad8-fa86458f35ee CLINVAR:102707 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83cc82c3-75ad-44db-bc90-44b22456c810 CLINVAR:102707 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9067d5b2-4d5e-4a26-abda-b55aea60927b CLINVAR:92744 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42140402-43f7-45f7-b7e0-320912da860c CLINVAR:92744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec736d14-b42f-4bb6-9a89-4040f32038ef CLINVAR:102706 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 615f91ff-97bc-4219-b28e-8b0e44b3fd5c CLINVAR:102706 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 11ff74da-6a22-4167-86a0-ffd1b6947725 CLINVAR:125436 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01ad0f64-d5a1-458f-8c32-fc62c776a0e0 CLINVAR:125436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7b8adf51-5545-48ba-8c97-2dd4bd6d3bb1 CLINVAR:551103 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9604becc-de93-4488-8e75-478da98652ba CLINVAR:551103 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 825e09ce-817e-4886-ac0f-0b44e3471962 CLINVAR:932262 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d64c8657-69ee-4ebc-9e60-a981b3726992 CLINVAR:932262 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c05ecdec-edc5-42dc-9836-d11433f2d35f CLINVAR:120277 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9728bdd2-703a-4add-8dc9-2345bf76ee40 CLINVAR:120277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d9e5d76-0370-44fd-8957-5fa3bd111da6 CLINVAR:102705 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6badef8-4c9a-4d9c-974f-7d7af2dcc75c CLINVAR:102705 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b81f7c61-0b16-4dad-bb12-fc5edc72a2aa CLINVAR:92743 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 136e13a5-0f35-4149-a4ab-ce6c018703bc CLINVAR:92743 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1e4c8618-6ee4-48ab-8e7e-723138273c28 CLINVAR:371373 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02dfd498-701f-4123-a17a-6e8ed3fe301e CLINVAR:371373 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ca1fd6d-0ab5-4997-b2b1-6c0c08f9ab51 CLINVAR:102702 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79eaaa6f-78c3-4216-84d3-f88dd6c34e39 CLINVAR:102702 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5aef7d4f-ac89-4ec6-9572-d225d414057f CLINVAR:805818 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7bb4f63d-c3ac-4d09-826a-be921a7fb3b4 CLINVAR:805818 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e9257402-25db-48ea-b59e-0b316f5ed87f CLINVAR:102700 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c0aae37-3ebe-4634-816d-c09b8ce67ee6 CLINVAR:102700 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 642846f0-d38d-4d1b-9a95-c4c1305cadb7 CLINVAR:102698 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8406c45-cecb-44bc-a54a-64a5253d9a32 CLINVAR:102698 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 59950f45-cad3-48a5-af9b-64c064fc1b31 CLINVAR:2682166 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51577c71-9078-4117-965a-9bbb9fa601da CLINVAR:2682166 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4796069-80ca-4046-be58-57715497f058 CLINVAR:587 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2205c1c9-2d35-411b-9447-b1ea946c33b7 CLINVAR:587 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2111c7d-86ce-48b7-a49a-6b45baa6f8bc CLINVAR:102693 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8504712c-9dc4-402e-ad77-01570ca61819 CLINVAR:102693 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b075dcb4-1e0f-4d70-ae3e-f7ca08cf0d43 CLINVAR:102691 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33b66796-85ef-41ae-bbd3-09e83ca14bc9 CLINVAR:102691 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3ffc4b5b-1336-49ea-95bf-46b0b6578592 CLINVAR:102690 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 507ced0f-19e3-4a04-89f9-9080db598691 CLINVAR:102690 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2384ac61-f3b5-463c-a545-f35c69b07ac9 CLINVAR:102688 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45b662df-2a25-4376-a87c-d19d5c0515fc CLINVAR:102688 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 470d9238-d8e3-4ddc-af8d-7c81b047ea42 CLINVAR:1693242 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78108f85-bf81-497e-9e8c-3266f1045d54 CLINVAR:1693242 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 839b51e3-37d1-4c74-85ac-b65ca7799dee CLINVAR:102687 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1398a18a-8e93-45d4-9840-3dea56f75e58 CLINVAR:102687 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1c435e6c-9035-4a0d-b19a-a7833653332d CLINVAR:102686 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 093a8f55-e7c3-4ec4-8def-5eb830054b24 CLINVAR:102686 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0edfd11-a430-440d-9746-477ff3476318 CLINVAR:987780 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01ba8adf-5246-4986-86c2-13a601454799 CLINVAR:987780 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a1a6dc9-19d7-458c-9380-6ad3ee23559c CLINVAR:554011 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42e1f263-ac10-4cbc-ace7-8d810d6e7648 CLINVAR:554011 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 987e8d64-03bf-4887-895e-2bb745abfbf6 CLINVAR:987879 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d31e4bf-04f5-406b-ad19-79687c0b0e20 CLINVAR:987879 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bff6ab80-c5fb-454e-8668-4d967caea1e8 CLINVAR:619705 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8a340c6-80fd-4b40-bddd-f54980f72df1 CLINVAR:619705 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9008f1ff-2497-4141-9fa0-6f59a0510ea8 CLINVAR:1185011 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3fabd0a-76ba-44bb-93d3-eb62a358bbb6 CLINVAR:1185011 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 758c04f0-9b6c-4df9-9603-ffbbe3b0ef46 CLINVAR:102685 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24c6e1d0-6581-4ace-a5b7-29097787ee50 CLINVAR:102685 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fca35494-f95e-4ba6-ace1-446f833aae89 CLINVAR:3393464 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3319374-9ace-4142-9892-637b2c34407e CLINVAR:3393464 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 76fb3243-f622-433d-b585-b6a178ce5d27 CLINVAR:102683 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cea9c7ca-1c60-4543-85b2-780294347cf7 CLINVAR:102683 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0b8ff468-f782-4d1b-8670-14f5847125aa CLINVAR:102682 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97f5b71e-e027-4fdc-89f6-b2a731118754 CLINVAR:102682 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d69d3d93-537f-4b16-ab86-92b1ad233427 CLINVAR:552657 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce4b9720-aa44-4004-a5c0-4cb95a3a2c09 CLINVAR:552657 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c7b73dc2-27c3-4ee7-b0da-976fdb6a4e20 CLINVAR:872837 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d19a5cb-a109-4ef4-bcf2-487da5617fc1 CLINVAR:872837 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b3a8794b-eeb5-428b-886f-680be94d8160 CLINVAR:872834 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8e9f4c2-38f5-434f-86f2-085564b41bcc CLINVAR:872834 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b9efe061-e247-4324-81a8-00bbf1cc126d CLINVAR:102680 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5f98f1e-0a47-47c3-8cc9-88453a226cd4 CLINVAR:102680 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a67b1f60-164e-43bb-9f2a-97acbb210236 CLINVAR:1065375 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bb6fdf2-1fa1-48b8-a291-443f88dc34a7 CLINVAR:1065375 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23dd9fab-dace-4ef8-9ebc-9c3235be45f5 CLINVAR:594 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae5f1139-4a16-4461-9366-0df509a21ea3 CLINVAR:594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef42c941-66f7-4b02-9f0b-e84fd8cb77a2 CLINVAR:1810385 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 822a945c-d880-4ac2-b7c4-e79316f28f08 CLINVAR:1810385 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf5bc1fa-0e4a-496b-b4c6-016eef8f9ea7 CLINVAR:120276 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32742564-5f8b-45a7-8e11-41a9fec33afa CLINVAR:120276 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2565d48-9f3f-472a-81fa-bffbf435d7db CLINVAR:120275 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c814c56a-d222-4d90-bb1b-a500d839f7d4 CLINVAR:120275 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fbc8a038-cc6a-496f-8039-4054910bcb8d CLINVAR:92742 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab5fb260-60f6-4efa-87b8-c26f09f855da CLINVAR:92742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad980327-2945-4efa-8715-74c0a20c3f6d CLINVAR:987910 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35ee25b2-1d84-4f33-bbfc-0481ffb03157 CLINVAR:987910 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7335e743-a15e-4142-be51-9741f05d232f CLINVAR:102672 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40f60029-12e0-489b-a341-a67dc6f505aa CLINVAR:102672 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de634749-886b-4e33-9877-b5677ce49a69 CLINVAR:987776 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9902417-06b6-4d6e-a968-6d5a5c315173 CLINVAR:987776 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfa00c19-d0ce-45f6-9ed0-4d7dd738d8c7 CLINVAR:987760 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bf52da9-236a-48ce-944f-824bde79ad86 CLINVAR:987760 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99bd6743-ec8b-4572-8d27-a60965c6e1d0 CLINVAR:556894 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db352e0c-eb2a-42ff-9747-468b189fc1ed CLINVAR:556894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0d6b6f4-10bc-460f-a781-46bdde7551a7 CLINVAR:102671 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b9a2837-43b0-47c5-ac55-bd108a8b6f54 CLINVAR:102671 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca346a11-2a3b-409e-84a8-0d5f58cc61ea CLINVAR:102670 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87b2d69e-5e7d-4587-9679-964f5e3ba8e9 CLINVAR:102670 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 24a69613-e12e-4634-838e-f01ac035c0e2 CLINVAR:102669 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f7d302c-92ce-4588-a6f9-d83dc6551de0 CLINVAR:102669 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 472245f5-99f6-405d-a5e0-91d77b75b568 CLINVAR:102667 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50abf9ef-26ad-4c79-8d70-96bd24efaef0 CLINVAR:102667 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9defa98f-7803-4a6f-97ab-dadb58d7e6a4 CLINVAR:102663 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b1447e2-f13f-4f67-8fb9-e7292f92a20a CLINVAR:102663 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 219c7504-ed0d-4de8-bf4d-d284808cf7c5 CLINVAR:102664 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c42cea9-6f67-4a4c-8ef5-7efde41ceb43 CLINVAR:102664 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd64ec5c-0417-48ae-ab80-44028e1dcbdd CLINVAR:3393469 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18ee46da-ed45-43ba-adfd-303a83447411 CLINVAR:3393469 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9f3d5019-a4ba-4c44-a1a6-1c3fd89a0977 CLINVAR:102661 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c5efa58-5c6a-4705-90b4-df53197d82e1 CLINVAR:102661 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b7ae9b2b-41cf-4707-bec1-1a028a346348 CLINVAR:987906 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16e85247-8399-49ce-931a-bd2aa9662a71 CLINVAR:987906 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c0ec14d4-12d5-484d-9668-8f06a50c770e CLINVAR:872832 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b0f8d10-af29-40de-8b55-b0fc74beb66b CLINVAR:872832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c84a3a70-a4de-4a93-b74b-004d2224c080 CLINVAR:2137411 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 384eb54a-497d-4070-9e91-1b5044edf649 CLINVAR:2137411 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e778bf5a-69b8-40e7-81ce-42f867993c96 CLINVAR:102656 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e7aa617-161d-4563-8f28-36bff96f1551 CLINVAR:102656 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01ce14bf-b1f0-449b-813b-13e36ebe58e7 CLINVAR:92741 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b1aac31-da76-41dd-aaa2-cac4f8ae4d48 CLINVAR:92741 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 15141dd6-3670-4b1c-a384-fbdcebcf38ee CLINVAR:2682168 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9285ccb-4a31-4551-abb6-6b4085446700 CLINVAR:2682168 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99b1230c-1a11-4d94-8554-d423ef6d7a93 CLINVAR:872840 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e90c8aa-3129-46a2-b8fe-0b087edf9a3c CLINVAR:872840 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ed4d117-9415-4105-814c-e001b453da18 CLINVAR:102655 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fcc6e98-c1a1-47bf-9cd3-85682d5ef37a CLINVAR:102655 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7e51dc2-1d6a-4a80-a51d-2b3075ff06e4 CLINVAR:102653 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d58321ed-73d3-4dd7-9f79-ac04618ce6f3 CLINVAR:102653 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 294bac3a-be4d-418d-8f9a-9e5e41a4b4e6 CLINVAR:120274 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00deb04b-fdc8-42a8-99a9-878becc6daa3 CLINVAR:120274 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6942e6a1-7758-4909-9477-4b11ccb72a1d CLINVAR:635217 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7fdc8bd-b417-4cd6-890b-0941a48d8736 CLINVAR:635217 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ebd30799-5780-4220-99b4-0ebe2e3d3336 CLINVAR:102652 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa69857f-27ba-4381-8184-743b7e1bc187 CLINVAR:102652 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8586035f-b196-4af6-8197-9ca6fb310706 CLINVAR:2682161 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfca14e1-b402-4bf6-89d9-ba5209699d7d CLINVAR:2682161 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb4c1795-0c4c-4694-82e4-3c9a227b850a CLINVAR:581 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5bfd721f-a3e8-424a-afe2-65bd33596763 CLINVAR:581 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08a8bdbb-f6a7-4508-b715-a37260c8c33f CLINVAR:102651 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50c0adf4-b6e6-40d7-8b89-3ebaa7e0d0bf CLINVAR:102651 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0f65bf9c-db72-456a-a558-2eb9cc94e5b4 CLINVAR:987778 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dceacd6d-3ec2-4aaf-b1de-e1752b3c331a CLINVAR:987778 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b0049c2-c7ae-4cca-89f0-486bde06f509 CLINVAR:225134 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bda997cf-2245-4e2a-9910-1dcb9208a3e8 CLINVAR:225134 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c91d590-d4e5-4023-b4f4-4e0a9d6dcd2c CLINVAR:1810384 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0adcdd4-5f8c-4a5b-a4f0-c400e758e289 CLINVAR:1810384 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c1821211-7e7d-400b-af43-4708d7f3ea07 CLINVAR:102650 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c920ce5b-3fd9-4d24-9f7b-61818e3af9ac CLINVAR:102650 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12f3d8a1-1cfe-4ee5-91c0-85d2380cdb28 CLINVAR:553851 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1b2105a-1bc2-4f7e-b51c-1a404c7a3a3c CLINVAR:553851 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0c86236c-fe01-402c-ab84-ac90de7704ea CLINVAR:627 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ac19769-8164-428e-9402-9f97c2ba84d9 CLINVAR:627 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 48020d12-b7fe-4ce5-8f49-9a22f5c01ebe CLINVAR:805817 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a017f0e-1962-4935-acc5-7c660809e428 CLINVAR:805817 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3a698bae-d5d3-4a48-a284-815de376ff2b CLINVAR:604 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 690525f7-93c2-4714-a8d9-0dcf7eecc6ce CLINVAR:604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 599bfec9-0465-4e6f-9ad1-4363416994e2 CLINVAR:2573215 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96b4f330-bde5-4ed5-8e46-bc0eebf2aa12 CLINVAR:2573215 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ef5392b-23ad-43bc-b567-c3bd71e906cd CLINVAR:102645 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da0c882f-343b-4972-ad41-bf904b1bf7cd CLINVAR:102645 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 07bb3f27-9a91-461b-8c66-f6c0e8c8a6f6 CLINVAR:2682160 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66a3b71a-772d-4006-a1fd-6599142945c9 CLINVAR:2682160 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d08fca2f-b504-435a-a044-1a85d3c50b63 CLINVAR:805816 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc58ce0b-f990-48a3-a858-fa565a6f2e7d CLINVAR:805816 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 128eabb9-90c1-422b-9066-e4a76c770e1b CLINVAR:102642 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a33f2257-8476-4d8a-8ce7-664f2eb43928 CLINVAR:102642 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d90a09a-a04a-41f3-b221-4e0855131089 CLINVAR:102638 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64ebab84-9f8c-4dd8-b3fb-f3f22620208b CLINVAR:102638 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ef1b37e-2171-4624-b9e8-b49de9bbd4f3 CLINVAR:932263 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6a164fd-59ae-4b5c-ad6c-9102247304db CLINVAR:932263 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6e07ea2-1a06-451c-a3e2-a8406414adbd CLINVAR:102639 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a732900c-0fcc-4232-b436-7b3a3d12569d CLINVAR:102639 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ec10ff8-bb72-4cac-98c0-ea484298100d CLINVAR:208180 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12374667-cfd7-490d-8fed-13bf7741e2f3 CLINVAR:208180 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ad2e7fb6-6bc3-4abd-be7c-661984e0ad51 CLINVAR:102637 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f0f5e2a-f078-4586-ab2f-1c6964eac44b CLINVAR:102637 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 470f4e32-e04e-4179-b6f0-996b8f0b7cdc CLINVAR:102636 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fd01704-d873-48c3-8cf4-643c89b1459d CLINVAR:102636 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4d01ff0c-254f-4ac8-ad0c-56cb9c71825b CLINVAR:102635 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24b40367-c3cd-4c73-be26-5958f51e6f22 CLINVAR:102635 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22781946-22f1-4567-ac79-29b661537c09 CLINVAR:495789 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5354201-536c-41d0-a39c-a0afc3364bc6 CLINVAR:495789 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c19a312-4d25-4758-97f1-77edb12abab9 CLINVAR:619157 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 959257ed-54fd-4533-8846-49782ada2a27 CLINVAR:619157 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1ea7fe29-c555-4d0f-8083-e11df1f30c44 CLINVAR:619158 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb34bf95-13b9-49ce-9625-4112a7e9b0b9 CLINVAR:619158 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 76378bc7-600a-4ce1-9876-cbab2be699c0 CLINVAR:987769 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f4d42c5-fd91-417e-80aa-c129cc6d565d CLINVAR:987769 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cc053392-904b-477b-a7c5-88d8aac0edd1 CLINVAR:102633 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa51364d-9cf6-4a72-a741-a998d81bb628 CLINVAR:102633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 05d85ffb-9eec-4922-bf06-071e9cfaba0b CLINVAR:102632 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8a3a31c-9a91-466c-bab6-9c87b2a00d5e CLINVAR:102632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc9b6b78-f871-4e3e-afb7-247ef2142e4d CLINVAR:987767 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8bfd8392-50a5-47d6-b0b4-f68eb2b5a5dd CLINVAR:987767 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4e8754d5-48f9-4bf4-9c3e-d3edbdfee1bc CLINVAR:102631 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0318a139-4c8f-42d8-849b-447bcd6cad7d CLINVAR:102631 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fa6c2781-4ddb-42d9-9aed-b96946149f12 CLINVAR:805815 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66ccfe29-93c2-4a06-b972-ac87b3d9aac5 CLINVAR:805815 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c77a99ad-1ea4-4732-90e7-afec208ef331 CLINVAR:102628 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9015b059-2ffa-453b-91f3-58937aff8b37 CLINVAR:102628 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 218fc139-b78d-4980-a622-78863f31487c CLINVAR:1693244 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f572b5db-bbf1-4d2f-b1ab-598c2800f2e9 CLINVAR:1693244 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ca6b6ae-d9bb-4f33-92da-605ca3c01db3 CLINVAR:92738 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bc15649-c696-441b-8335-dc507cf76fb1 CLINVAR:92738 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f111d988-be6c-42d6-a338-f59dc6c44ae0 CLINVAR:102627 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1419094-d14a-4e6c-bdba-fe6f8c840335 CLINVAR:102627 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 856a1063-c869-4db7-b093-d7b20d59f7eb CLINVAR:102625 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5941d0e2-79b2-4a95-aba6-5fc30f5477e7 CLINVAR:102625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e7f2e50-12f1-4d70-b878-1cfd6cc9ab6d CLINVAR:120270 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 968c2038-a866-4219-986f-c0e239adda6d CLINVAR:120270 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c95f8e6-4294-4f2d-b467-8f92956f1eff CLINVAR:1693243 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82307ded-6be4-4e27-911d-d887683ccaa3 CLINVAR:1693243 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ecc880df-cb60-454a-95e8-57f50244f963 CLINVAR:805814 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8bcbb15-7cfa-43bd-975b-3b9800a7ee01 CLINVAR:805814 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d81a88ef-8c97-4625-b166-03e9bc572bfc CLINVAR:636 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 428c2362-4820-4917-9eb3-74de801e65a7 CLINVAR:636 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3344078-2e60-47fb-aef8-ffdfabe73bd4 CLINVAR:102623 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e8d3a2c-68f3-4144-a7ea-54e724d722cd CLINVAR:102623 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3ba5b601-c91d-4e81-a52f-54db9e9bb818 CLINVAR:102622 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e85834d8-ad98-42d5-ada1-1948be058b90 CLINVAR:102622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e84195b-4c3b-48c6-b878-a172688b6ff6 CLINVAR:805813 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7778c85-e848-46ad-b94a-033ffedfdbad CLINVAR:805813 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01e079d7-069f-4505-ae44-e593494a76af CLINVAR:102621 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a0c73d3-4b28-4b00-8dcf-027c0471fced CLINVAR:102621 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8df93e98-500f-4a82-be72-3ee7396a237f CLINVAR:971992 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7345e10e-aaa1-4dd3-ba48-50dd21aeff47 CLINVAR:971992 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 142090d0-3057-49cb-8bfb-2b432f977bc4 CLINVAR:805811 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43cdacf9-e9a3-4821-aa54-311ba02d3f8e CLINVAR:805811 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3498409b-d4bb-48d5-b47e-a1e329644b09 CLINVAR:872838 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08267cd9-37cb-4ddb-af09-f58376321d46 CLINVAR:872838 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8e288171-a53e-45ec-85e6-56d318f64b58 CLINVAR:805812 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e68281f8-8a3c-48a3-8e1c-6e5f006ef9ae CLINVAR:805812 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ab97443-9f35-4ae4-aeac-1d4bea47aa7f CLINVAR:102618 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22a94fd5-c386-49f5-ac7e-3e73302225ad CLINVAR:102618 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 90743578-be33-4aba-b672-995cbd1be08b CLINVAR:120269 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cfb513c-c67e-4796-9481-017558389afa CLINVAR:120269 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d6ed384a-ef03-4950-873a-e17a0f4c87d7 CLINVAR:102617 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ff7db13-686e-40dc-bacb-2c621cfcf3da CLINVAR:102617 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 53e4806d-d81f-46af-b17f-4843b8c506f6 CLINVAR:805810 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfe5788e-4504-4c5b-aa3c-12d414c22b9d CLINVAR:805810 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7940aa1e-98c1-4ec7-a3a5-04d4c5ba6c14 CLINVAR:102613 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6686275-5952-4843-a7a9-fa1e1e9b92dc CLINVAR:102613 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e32a940b-268b-453f-9ef1-ce2a5db81640 CLINVAR:120268 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb5ebedb-07fe-4b28-8541-ab581807cb6e CLINVAR:120268 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 860260de-a0df-4d95-a8d0-a23b67cc0980 CLINVAR:987775 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12e7c8ab-a9f4-4632-9fb5-27104442e40f CLINVAR:987775 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f215b828-5170-4778-8864-104294e9168f CLINVAR:555212 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7879c7d-4d99-4177-9c87-f243d4980c5f CLINVAR:555212 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5007abd5-238b-4e7d-ab5f-032a7db875ec CLINVAR:102611 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c2f3031-f48a-4a99-b0ac-4a811260a6af CLINVAR:102611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f9a8ae2f-9923-4984-82cd-1b8d9b29afa5 CLINVAR:102605 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c225ce36-f59d-4ce6-80ba-d11c5d651920 CLINVAR:102605 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a16a3678-47df-4e9c-9605-3db36919bb7a CLINVAR:805828 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddffea6a-f0e8-4a29-ae6b-5e9e8f096bff CLINVAR:805828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77f057d1-8bac-4a1d-a70c-46b9a7e805ff CLINVAR:805827 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd858aef-5c9f-4c9d-ad76-214df2c8696a CLINVAR:805827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 32a399ba-b040-4297-9395-b452935adf05 CLINVAR:102604 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b3084de-8bb9-4f8e-90f8-5eb63f62a179 CLINVAR:102604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1ba917e-1660-4e8e-a797-f427435445ce CLINVAR:188771 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27bfab7c-b1bb-48a8-8220-c315d977a00f CLINVAR:188771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 658fef45-8521-46f9-9e72-e40fbfb9505d CLINVAR:102610 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98883378-3a73-418a-a7c9-27775022bfbb CLINVAR:102610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd44c932-0ded-412c-8910-3556b84bb71b CLINVAR:611 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ccf39ad2-0f28-4203-9f6b-b4ce80229949 CLINVAR:611 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e92dc1af-5ba4-40b5-8cf8-fd2b329255b0 CLINVAR:102603 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f246b51c-62d4-4368-8ad4-6bb204e1adac CLINVAR:102603 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dba44b53-1dc8-437f-83ab-43aef9033e6b CLINVAR:120266 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15c8ad5e-6e50-451f-bf12-abcc9cd24f0b CLINVAR:120266 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 124d0fa2-fd9f-401c-8a51-5faac4b2b349 CLINVAR:102602 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e13a05b9-f274-439e-b1e2-e214ea5c8821 CLINVAR:102602 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7b185ed8-a742-421e-90d5-9d1a58f62a15 CLINVAR:102600 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dce3062d-f548-4832-949b-31b5149bfcbd CLINVAR:102600 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a35653b4-7a74-4bdd-b0ef-d37c3ea32d01 CLINVAR:120310 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 715c93c4-faf7-4c64-89e9-2998cfbb7d43 CLINVAR:120310 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a486b99e-f7bd-4f6a-bdcd-79db174055ce CLINVAR:102599 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1f50781-98d1-4559-a37a-70e6dad3ae02 CLINVAR:102599 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 16ceb757-4c5c-49ad-98db-f89d04a48eda CLINVAR:608 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b06542f7-e730-4ebd-b5d9-b252db94b8f7 CLINVAR:608 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39131657-fc99-4254-974e-b94b1956c0d9 CLINVAR:630 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 136c0ae6-4f7e-49e5-989f-d988b09987a8 CLINVAR:630 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f4ec4fbf-3b58-4730-bc62-81ed29aa6bce CLINVAR:102597 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8a5ec03-e6f3-410d-968a-b9e6062e23a0 CLINVAR:102597 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32be8930-1d55-4975-aa40-f74e8399a8aa CLINVAR:619156 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74603ae4-db7d-4967-8a56-ee6a990d3657 CLINVAR:619156 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dc3057ac-b6f5-481b-b06f-6c4389cb82c2 CLINVAR:629 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1babb15f-ead0-4784-ad8c-7d5c6a263e73 CLINVAR:629 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c640ffe-16c3-4c39-bdc1-4e3078d10f44 CLINVAR:102594 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1767fb98-a184-4452-a4f2-d5bf0c8460b6 CLINVAR:102594 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 482fe0fa-f149-4eb5-8e4b-b1743319d08f CLINVAR:557124 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80eef298-537b-4226-9bf9-8e4d2b0329d9 CLINVAR:557124 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de3a7ea4-3120-48e9-8ed1-9b23206741ee CLINVAR:552279 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a7e5ee8-188f-4415-800b-b8936709ade3 CLINVAR:552279 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d73b79c2-f62d-4c47-95da-38ba65d01ac6 CLINVAR:102581 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4dd0c452-9e73-4dee-a0bb-c180cd08e520 CLINVAR:102581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cc18eb93-9654-442b-87b4-51ae59474c81 CLINVAR:102573 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 710bd4a0-97ac-4057-8841-dc928fec3f77 CLINVAR:102573 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e9c49f21-d40d-4e3b-8950-b71ca9f7bb03 CLINVAR:102569 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e08782fa-608b-465f-9f58-7ebb98f8e295 CLINVAR:102569 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 023ce83f-046e-46c9-b3c4-896818b29612 CLINVAR:188933 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 232ad3fc-114e-4bba-84b7-ae2d989038fa CLINVAR:188933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 501ca920-3e2d-4e73-9eee-b4a7a08cd8f2 CLINVAR:605 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae853048-db56-48f8-9022-ea5cd55310ce CLINVAR:605 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ca2656c-fbdf-449b-a594-c2485fcd9c30 CLINVAR:102531 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 960a2183-ef28-41e8-908c-128d02409f7f CLINVAR:102531 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f140eb50-a526-4f44-9400-7c314d2013ac CLINVAR:225133 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 036b7031-3161-4c73-8cf2-8531a137c203 CLINVAR:225133 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d2386b12-5f8e-494f-821f-94baee230c6b CLINVAR:2682164 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb2bf55f-b456-40ae-9b3b-8fa6a619235f CLINVAR:2682164 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e121fd3e-eff0-46bf-8376-ab9efb6bc0f6 CLINVAR:932280 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03fdd601-d042-44cf-8dc8-98d57aa27190 CLINVAR:932280 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3ee4e04-9825-4daa-9569-d1b12032618c CLINVAR:805806 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23ce8bf2-d0de-4df9-b344-352d40be810d CLINVAR:805806 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f50bf506-4f3b-40c6-a7b0-211a950e3db6 CLINVAR:102744 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f3c6b28-0c7c-48ad-9493-bb6e4f53c70f CLINVAR:102744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c424d80f-a804-43a1-8a1d-e47ce63fa4cc CLINVAR:805804 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77fdbd69-2abc-4114-ac7f-dac1ae0122c2 CLINVAR:805804 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d66b32f-83f7-42a1-adb8-d645e6cbe33d CLINVAR:2682165 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 513bf182-b3e7-4ff7-94a5-1f54b63518c8 CLINVAR:2682165 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 727a60f6-7045-4e21-9f06-e7deab85e2be CLINVAR:102696 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e580590-49b6-43be-96ec-61834d8007b8 CLINVAR:102696 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac9aae70-d008-4bf1-bb95-85863d0c35da CLINVAR:805802 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b648f14-b47c-43dc-bd44-3373ecc73d79 CLINVAR:805802 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 958fecd9-25ce-44f6-be54-6ee4318bfbf1 CLINVAR:805801 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f6b2385-afce-4b36-8409-4fb0d9a37ca1 CLINVAR:805801 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a47d5e5a-0684-4168-a8ca-d92da82108a9 CLINVAR:625287 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cafbe52-ad49-4cd5-a535-442e8951ef59 CLINVAR:625287 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d72745db-61ea-4a40-86e0-ccdcf19d1ba8 CLINVAR:805800 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4956f1c8-0677-4fde-a2cb-41ae0d0060ec CLINVAR:805800 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0016d2c4-9265-4a81-acde-04d51b7c9d54 CLINVAR:805799 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a8a4517-520f-4aa6-8aa0-157c043f6338 CLINVAR:805799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f03a908-6256-4d71-a37c-25b31fc72a70 CLINVAR:585206 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 110361ea-a071-44e3-81ef-719048dd3fb1 CLINVAR:585206 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 84c1e751-4c21-4084-ab3a-a3aa3c2db24f CLINVAR:622 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6f9cec5-3498-48f7-859c-2d1a007b5bb9 CLINVAR:622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0560e8b3-930e-410c-aff8-cce9001d8155 CLINVAR:102647 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8b2ba0d-769b-4699-b3d0-8582570550a6 CLINVAR:102647 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9160a38-5aa8-4689-9b3d-b5d614011749 CLINVAR:203873 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d31558e8-5eb7-426c-9c90-a5ecffa8bf36 CLINVAR:203873 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8fbd86ca-b0f3-42b2-9be7-0997d4c8d36a CLINVAR:102626 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46f3022e-055c-48e1-bfb9-1cdee20db1b8 CLINVAR:102626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f10eb82-eb28-40b0-b67b-449d8c49179e CLINVAR:586 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 573471f1-ee26-4676-82dd-9c9d48a05139 CLINVAR:586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77b0dd5c-151a-4c6c-bc57-3155073fb0d6 CLINVAR:638 biolink:is_sequence_variant_of NCBIGene:5053 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b4911fe-7abe-4a6e-861b-505edc37c418 CLINVAR:638 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b1e3d71f-ce61-4169-b599-9324f6eb2500 CLINVAR:43479 biolink:is_sequence_variant_of NCBIGene:4633 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abdea454-0dc1-4d9a-80c7-e706fc256f94 CLINVAR:43479 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b198ddcd-d67d-422e-b21e-42fd21f14e3a CLINVAR:43479 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 207101dc-025b-4755-800d-b97f15a98b5e CLINVAR:40484 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27ec0f55-fc88-4414-8a14-e00a998b23aa CLINVAR:40484 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0f79cb0-c222-4764-b98b-1614c17fc5e0 CLINVAR:40485 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1aa2507c-a3b3-4a88-bde4-565bd63f5a46 CLINVAR:40485 biolink:causes MONDO:0020297 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65b8d305-7708-4085-864c-4cdbf4d96a59 CLINVAR:477669 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb5ffdd7-7b81-4f11-b06b-98efdebdd651 CLINVAR:477669 biolink:associated_with_increased_likelihood_of MONDO:0020297 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b3c2c8b3-ab59-4285-84ad-d1e14ad4d8dd CLINVAR:13329 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f35b1c96-d9b8-4d74-b565-798c8f5b250d CLINVAR:13329 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52034fda-a72d-46c3-9c3a-ed601b5754f9 CLINVAR:13333 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1aba9b64-5faf-4711-8d7b-d24d13dc892b CLINVAR:13333 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1887be3-7f9e-495f-bf90-a406458a0778 CLINVAR:40498 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adf6a789-5a89-4102-be1d-7d24824712f1 CLINVAR:40498 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a033f37e-67a2-4cd3-afd6-078e93fd8cd8 CLINVAR:44603 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5af89b96-38db-474d-a51c-bb6490740c9f CLINVAR:44603 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 254308d2-ba74-41bb-9245-9510e3e2188d CLINVAR:40513 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b45cddfc-8222-4b83-bbc5-2b574d43c931 CLINVAR:40513 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3239a0ed-b1c4-4e5e-91d5-22625ec4d313 CLINVAR:40520 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a17e169-0c3a-45b9-a328-6ea785ac3636 CLINVAR:40520 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 687b0c3e-8903-4b2b-b50c-9bc631d6bcbd CLINVAR:575203 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba6814f0-b509-4cc1-9baf-a74dda0ca122 CLINVAR:575203 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9574e751-0f16-415c-9f1e-eea09fa435ba CLINVAR:40522 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9660231f-aa58-43fe-af83-3a0813523b6c CLINVAR:40522 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e374914c-631f-4a15-91da-bee3ffae1f5a CLINVAR:13328 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f7b4d51-fb0e-4204-baf7-655caf3f1a53 CLINVAR:13328 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f99bba4d-e9ae-4ef3-a840-700b7acc6885 CLINVAR:13326 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c2b8e46-8f95-41a4-858d-945111222b4a CLINVAR:13326 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 628af7c1-126f-4d20-83cb-da90379cb203 CLINVAR:13342 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d67f204-a944-440b-813d-0c8827ddb26c CLINVAR:13342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6869fdd-f8c5-4c8f-988c-ffe7ed578cec CLINVAR:13343 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32846da0-5f9b-481b-a89c-72a8199c1375 CLINVAR:13343 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d093f59-dfe9-4b30-ab61-f29d02852790 CLINVAR:13331 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82ab60fc-4a3d-4414-ab15-c3fc04b7a126 CLINVAR:13331 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8896f5c6-49b0-4572-b53c-03adc4c468aa CLINVAR:40562 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48005b36-00b6-47f8-a3df-3b78fd1db6a3 CLINVAR:40562 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e33dc5ce-cd75-4f53-a9a7-5f4c309e4235 CLINVAR:40563 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08ea2517-8701-4f78-a178-69171589a881 CLINVAR:40563 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39eafa21-7bff-4e61-8e13-6fd12d88bf7d CLINVAR:13344 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da63112f-1428-4ab6-8e8c-4ba90037f7e9 CLINVAR:13344 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46a3ac2e-c602-4d87-8b19-1531a2a81d59 CLINVAR:40567 biolink:is_sequence_variant_of NCBIGene:5781 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9286abe-4c2a-4555-8c0f-05dd845ffe3d CLINVAR:40567 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab66ff74-4072-41b5-9ce8-4d43ffaf09b5 CLINVAR:14933 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bf87b3e-612c-49b0-a4cd-6d58d1d56157 CLINVAR:14933 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1e93b3f-6e5a-4a90-869e-b7066062d99e CLINVAR:1342948 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar baaf011c-f7b8-4690-8eac-542ea35e12d0 CLINVAR:1342948 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f368dc8c-71b1-43cd-912e-b1418fde4a84 CLINVAR:36814 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41d032be-58f5-4494-af92-57c3559d15e6 CLINVAR:36814 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5dfb30d-5ccf-4f80-b93e-8b22324f76ee CLINVAR:502525 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83feb4b8-bb39-4605-af42-f46eb51d93d3 CLINVAR:502525 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14fc3e4d-c37b-4c67-8b47-1d81cb9289f9 CLINVAR:1342949 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23036b11-267f-4bfd-bbad-50a1bb3c1191 CLINVAR:1342949 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23c63a22-efe3-4f4b-9bc9-73ad5b893680 CLINVAR:447493 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9704959-fed0-414d-bb51-5d1f66dc0b87 CLINVAR:447493 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 444bb515-3e54-4b33-a672-3cc5ef12b0d1 CLINVAR:1342950 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ecc6082-6d75-444c-8432-0eaf29a1f1dc CLINVAR:1342950 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ca903761-f0ae-42be-b46e-055b32c6b665 CLINVAR:1342951 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b8dd891-d0dc-483d-aea6-0a8acf4bef03 CLINVAR:1342951 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a921202-ac47-4ac8-9413-a0f1b56354da CLINVAR:1338407 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0b2a8f8-cdc1-4035-9406-0bd558e4c1ea CLINVAR:1338407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5daa17b0-9fcb-4c3a-a62a-39e47daa70a5 CLINVAR:562372 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d533845-1080-47e4-a51a-1afd897ab71e CLINVAR:562372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a50534b9-2d18-4ecc-b662-1c4d9b2526a0 CLINVAR:1675060 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 784626f1-0b45-41f1-8bb5-0d8816286f53 CLINVAR:1675060 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46fd72d2-ac80-4a5f-ad50-f79690060da6 CLINVAR:1675061 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28e8800d-9a94-4588-b354-0559596aee8f CLINVAR:1675061 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 27842ae5-9196-46f1-afb0-7f288729009a CLINVAR:1675062 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a4f8ab4-3e2a-441d-9ea6-45f4f570d843 CLINVAR:1675062 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 45a9c16d-fbbf-4d26-968d-60ef8db9d21f CLINVAR:1675063 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be64f952-0f3b-410a-8091-df49afd27144 CLINVAR:1675063 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ecde4998-96ac-4a84-ac45-f68d683fa907 CLINVAR:1675051 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81175418-4ae9-47de-8240-44c94ae52e75 CLINVAR:1675051 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6f665c64-7da4-4b86-9dea-108e78a641ed CLINVAR:1675053 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0acebad-8748-4399-9ac5-f4917e443076 CLINVAR:1675053 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1213ab49-7d10-44c4-b7e9-6e8b607f3b52 CLINVAR:1033090 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8cbb5f5-2ac5-4282-8283-b02c0645d69e CLINVAR:1033090 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2cdcc2de-8070-4323-b0ed-93543b6ff7bc CLINVAR:1327599 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3d45d98-74e2-4409-9963-4d6b65fc5ce8 CLINVAR:1327599 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51ac7aa0-5d73-4d8d-bd25-0c1e83421ed6 CLINVAR:1327598 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a08526a-87a6-4c63-9ab5-e39cafa7bfe3 CLINVAR:1327598 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 84201db1-0a53-4042-a737-de07a6e20a5c CLINVAR:1327597 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f446e364-0f50-4431-93dc-9d9faffba51c CLINVAR:1327597 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c51c73b5-1e5d-423e-8442-332806f52434 CLINVAR:3338658 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7a3bb35-2981-426c-bddd-f66007f1be20 CLINVAR:3338658 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ce9bf21-f518-462e-9540-38621edab992 CLINVAR:1675058 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 039b5880-430f-4fc8-9e27-db96325607a1 CLINVAR:1675058 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91d5a152-b3e5-4195-82c4-49b8b71d7de5 CLINVAR:1676683 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5528c517-a793-4001-b507-c57e93fcab3d CLINVAR:1676683 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d320d9f3-635c-4602-a9a5-08f10c3c104b CLINVAR:1342952 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b795bfe-ba8f-485d-878f-37341eca28b3 CLINVAR:1342952 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e964b46f-87ae-4b5e-b48c-56e7b98e0d3d CLINVAR:1676705 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ceef0e92-335d-4ee1-a21b-083eb5821549 CLINVAR:1676705 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2be7b1b-7d44-4106-85cc-4061c62dda00 CLINVAR:1676707 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17a8f995-cf3c-4714-a45f-cc7eaf4e06c2 CLINVAR:1676707 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e1d7c6b7-a3ff-43d4-a17c-aa9ad85d0763 CLINVAR:1676712 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 185b0dd4-f52b-49d8-bdb9-4dab36ead659 CLINVAR:1676712 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47e72c80-ba37-4092-8963-a2b4b6fa0b61 CLINVAR:36798 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15a225f7-f588-48e7-a956-b8e28d8d8f6c CLINVAR:36798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d405b87-ecd1-4167-ac4f-11f11a9124c6 CLINVAR:1687081 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 033d6fb6-0815-43b9-b24a-ea4e19f4790d CLINVAR:1687081 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c217c85-71fd-4e35-9255-1824ee1081ed CLINVAR:14938 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1b03a29-24d5-48af-bd7a-889236943baa CLINVAR:14938 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fff2f97-d0b1-4588-93bd-d33c7524e1d5 CLINVAR:805632 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afdd4803-4348-4dd9-9d52-bcac3738ec14 CLINVAR:805632 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06e44c46-d077-49be-861b-d83d0dbf75d5 CLINVAR:1676685 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efded7fb-048d-4566-a48c-37b10b4ffd8b CLINVAR:1676685 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fdb6f97-13d5-43ac-b02c-6df7af368e4e CLINVAR:36809 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b884c3c7-75cc-45dc-b495-8efb8c5f0622 CLINVAR:36809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e4269d7c-7190-4b79-8bbd-faebeeedda76 CLINVAR:1676686 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74c1903a-07b6-4ebc-a328-116a582ffe83 CLINVAR:1676686 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c0f7167-4826-47fd-be76-9a95067c37bd CLINVAR:1676687 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1e9a611-6cb4-4ca6-9911-3acc941c547b CLINVAR:1676687 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c473e30f-8265-4aa8-864e-5f6b8cf6e794 CLINVAR:1676689 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14690ffc-af21-4441-abb9-a7ee3a2c182b CLINVAR:1676689 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 739c61aa-69f6-4882-8012-9635c63401ea CLINVAR:1676691 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9159f946-d329-45c0-b167-5d128120d395 CLINVAR:1676691 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 88e40dc0-8df1-4093-b318-33a4b5aabd76 CLINVAR:1676694 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72dc7dcd-d9f9-4d74-915f-3679082e1afe CLINVAR:1676694 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4433c1be-190a-4a88-a96d-1ac3eaa35b6b CLINVAR:1676695 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87eda37f-f687-40c9-84dc-5a51b6d68b7b CLINVAR:1676695 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b510c681-5c11-4462-a598-83fa6551bec5 CLINVAR:1676696 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65b95a6a-802a-4544-89d9-7117f75d9768 CLINVAR:1676696 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3e8d5988-453c-496b-81e3-b046cb867e23 CLINVAR:36816 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5476962-6159-4e79-9dcc-29a32c806a30 CLINVAR:36816 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e8dc05cf-ae5e-4f1b-8d22-f553e95fc8d0 CLINVAR:36817 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60da4402-fe53-4c4b-a98b-bd21ba2b0eb9 CLINVAR:36817 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 62e818a3-9fc0-43d1-96e8-a0a6400d9d57 CLINVAR:1327593 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5acf043-7ee5-49f0-a539-1451588f0082 CLINVAR:1327593 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c5a58c7-621d-4e57-a9b7-5117f81cc35b CLINVAR:3024563 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78cc472c-38a9-44bb-ba75-a499c4a339a4 CLINVAR:3024563 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2228c17c-9a02-4e8f-a852-7b26b601c9cc CLINVAR:1334149 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2776e0b-9c78-44df-a301-fc1dadf01dac CLINVAR:1334149 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7817ab99-f459-4f0d-afe3-9e05eabedfde CLINVAR:1334148 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2ad6452-704c-4d69-97aa-4f870fbad396 CLINVAR:1334148 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0550e17-5eca-4043-a47b-e26da135e4ee CLINVAR:1693223 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b9df084-45e6-419d-bed6-7893560f03fb CLINVAR:1693223 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7d2c39a-0d69-4a49-8181-12cad952b6dd CLINVAR:1693222 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b8ea44d-24e2-4e79-bab4-165ee919c1e2 CLINVAR:1693222 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e98ed2e-4730-45ec-86e2-5310b7f7be1c CLINVAR:1338520 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc7e8019-6bec-4db5-b60e-dd7e1fcce5ce CLINVAR:1338520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5ae9a52-25ba-44f1-a34c-661115586507 CLINVAR:447486 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36aa6a85-4649-4ade-b0c2-7a83b6570ecf CLINVAR:447486 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b81bee4-2011-4754-946f-2fb11845c9b5 CLINVAR:1687072 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d96b7f0-dcce-4360-b351-d7d10651fdb6 CLINVAR:1687072 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2529ef7-c9a2-453c-9b9e-ad71b12990ae CLINVAR:1804170 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e46d131-7b2e-4fd0-b107-ee68e4db17f1 CLINVAR:1804170 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2417ea3f-d3f1-46ce-926f-ccc86258a5d8 CLINVAR:1687073 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9944cab5-a910-419c-a3e3-a4ad6a4f89d0 CLINVAR:1687073 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 003d5630-a3eb-478b-94c6-bc7c45c91e57 CLINVAR:14942 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 929a570d-e548-4191-b563-0abae9844b39 CLINVAR:14942 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0af2d31-ac06-4a93-a350-26c629d46d70 CLINVAR:3358871 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d779fcac-010c-409f-b964-82e0a7c9e0d2 CLINVAR:3358871 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89c2c2ac-ec36-4890-815f-0ec8884d3c51 CLINVAR:1342953 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1b25a97-dc30-4102-bf7e-e05beb510e01 CLINVAR:1342953 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0b5ae552-2ad2-4b11-99b7-5a5fab4fe6b4 CLINVAR:972751 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1aa7adc1-e161-47cf-b302-2930dd362633 CLINVAR:972751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f22866ec-5699-4d6b-b92a-69d2fb3aabba CLINVAR:3602129 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 747f6ddc-bbb5-41fd-8b4d-13ef4dcd4f30 CLINVAR:3602129 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e249242b-cb1f-4cf5-955f-74316394ce8a CLINVAR:1700671 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98d3f674-0ae8-423b-b16e-441f05985654 CLINVAR:1700671 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab49f023-ab28-4520-98ec-e42bf224cce6 CLINVAR:3767145 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06a0106b-b02b-4a03-9671-ad7a6a092ae4 CLINVAR:3767145 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 452367e5-6534-4d82-89da-913efd4e7bc2 CLINVAR:1732973 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1939f8cc-176e-44e4-a56c-2ab1ccdb367d CLINVAR:1732973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4142593b-e50a-4e41-b7db-8b7765446e2d CLINVAR:2581123 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f309aa6e-e7f3-4a46-999f-dcda813b41c2 CLINVAR:2581123 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 80ed21e8-7577-4d9c-ab38-25a51afa4c26 CLINVAR:3602124 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2af558df-8db7-496f-a03a-1a31749c5949 CLINVAR:3602124 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b6e1e83a-9b3d-4036-bbc5-784cf6b6161d CLINVAR:14930 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 472854e7-604c-4a20-a13c-1280c047a99c CLINVAR:14930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8a9a7ce6-5e3f-4f6d-a191-8159f41ef2ec CLINVAR:994547 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15b8541c-0a08-45d5-90a5-5b7658ce0211 CLINVAR:994547 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 73108307-cffc-4480-9f1b-429b6648be80 CLINVAR:1327615 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24bab8bc-feca-459c-b08d-bf0399a2c9d7 CLINVAR:1327615 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5223e145-ce9e-4174-85d6-cc731533ad2f CLINVAR:36820 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24e0c1a2-d1d7-48c0-a1f1-4c5c19254aca CLINVAR:36820 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f91d3640-5b29-49c4-af09-bf12c5c67b4b CLINVAR:586791 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4760686a-8762-43b6-95da-33e03fead8b7 CLINVAR:586791 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cbd58aaf-5cbb-4fd3-9b03-44f7dfd531f3 CLINVAR:1693218 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e82a480e-0b38-4202-bb8e-961e5e6c2f12 CLINVAR:1693218 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 51488b45-8e8b-44c4-95d6-8e8a45bead8e CLINVAR:3238980 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e2d913b-9d74-4577-8d8f-80fca7409a5a CLINVAR:3238980 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9e789b4b-85de-4e80-9e9a-ff759cac3afc CLINVAR:994548 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15e381dd-680e-4eda-95dc-9f24bb9108db CLINVAR:994548 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0aa107f-6a88-44f2-8857-9fe0660cfb2d CLINVAR:3238981 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9450248-916f-46fb-aa7b-b60a30a46ea8 CLINVAR:3238981 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e369b799-f1b3-4d1b-96db-de512161fa54 CLINVAR:14943 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2bc60be3-1fb6-4094-abdb-729b7dd8c6bd CLINVAR:14943 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28ec3d3f-3771-4dd1-8846-ae472c9a5444 CLINVAR:562373 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a417af52-d510-42ef-a7dc-50690866391a CLINVAR:562373 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db8d1bb2-ce9e-42e8-8909-dff9bd964ccb CLINVAR:447488 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbe4765d-b64e-43b2-a9e7-92ba42bd1422 CLINVAR:447488 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f9f9c077-5541-428e-a05a-332938fe4108 CLINVAR:3238982 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4919574f-910e-4bb9-ba53-1773e1e32430 CLINVAR:3238982 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4a2e4f4-86dc-4815-8ee7-509f2a09e409 CLINVAR:3238983 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0660926-9093-4f77-ad3b-2267b71053a1 CLINVAR:3238983 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f862ca06-068f-4264-93f9-851fe31ccda8 CLINVAR:1479078 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25977a59-5156-428f-b760-d66b9d81e7c7 CLINVAR:1479078 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 16b7740e-9184-4e1c-a744-97a05dbe8da4 CLINVAR:1693220 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09076bb7-76ba-4ba4-8e57-bb5f72e43bb6 CLINVAR:1693220 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bf72b077-25b6-401b-b450-ae7541c1ea30 CLINVAR:1700001 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9890af1-a2bf-4e15-b386-2c86cfb94bc7 CLINVAR:1700001 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 667e68ca-1550-4fb6-b956-87dab925e7a5 CLINVAR:3358873 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce39bc29-91f0-4c7d-a5f8-15b105a817e1 CLINVAR:3358873 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dbce3daa-0223-4d56-bb75-335c5eaad40c CLINVAR:1338462 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8397c29f-2d3b-4139-ae2a-577d6c23ce72 CLINVAR:1338462 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fe2de3db-7c17-4671-b98b-fe0af5f72cf9 CLINVAR:1940407 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b59866e6-b0ab-40dd-8101-e7abad536607 CLINVAR:1940407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9b29137d-bbb4-445a-97af-53b40614d385 CLINVAR:1327607 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d46abe0f-dba2-4e3f-a8bb-4922b6546ccc CLINVAR:1327607 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c1370790-5522-428f-b373-e2759bbd493f CLINVAR:1327616 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77ff3e36-d9e4-4b25-967b-2e87d085abe2 CLINVAR:1327616 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 977ef82d-f7d3-428e-a6f9-31b6484fbb4b CLINVAR:1327620 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 353baca2-9ef7-4607-a7c3-8ef694f40264 CLINVAR:1327620 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c2739e2-5b2d-4e04-8059-aacd0c25f842 CLINVAR:1327606 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf7deb9f-fd18-471f-81c3-ad4efcfbcc6e CLINVAR:1327606 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37cd074e-48de-4dd3-8ab4-83a8ce29336c CLINVAR:1327604 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e9240c1-a441-4e81-babd-3f5de0b8c7fc CLINVAR:1327604 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c39827a4-f9d9-40fd-af96-6ae4c20d0a0a CLINVAR:447489 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 544b49b1-254e-4f92-8b22-b3136a8f87cb CLINVAR:447489 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2b04fbd-7809-4a16-a006-1049af0610ba CLINVAR:4531185 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1712e752-70f0-4621-8dd6-f1b177bc07a9 CLINVAR:4531185 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1c9d4375-675a-44ac-8195-d664ca789b4e CLINVAR:3602125 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71a84193-fc74-44d7-a797-139aa9bdcb8c CLINVAR:3602125 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3be11901-5ce3-4585-9d55-04f172296530 CLINVAR:1317657 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05352f5f-5a7f-49c9-9121-528d026a34b8 CLINVAR:1317657 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 29e143f3-1131-4bed-a45c-4f1fb9cf667a CLINVAR:3602126 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b699211d-f36d-4413-944c-21a4647a1646 CLINVAR:3602126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 51702473-008c-4d56-8add-15e2519f6951 CLINVAR:1338456 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adc95ccd-0f09-4253-a4d0-e40362335ff0 CLINVAR:1338456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb35434b-b7a5-49c3-9289-d104e5eece5a CLINVAR:3906940 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c2573f0-09b7-4aca-aa25-a67352a51fd7 CLINVAR:3906940 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9a1c1894-2bf1-42d6-be59-703b88240971 CLINVAR:1676704 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bef5d3b-e526-45d8-92a6-171aa1f38694 CLINVAR:1676704 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dbdfeadb-3bae-477b-96ab-0490e9a0fb4f CLINVAR:429750 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d84f300d-5db6-46c1-b6c3-64c5bbf88ba0 CLINVAR:429750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 883546ad-0e21-4132-8fe8-840eadf697fe CLINVAR:586792 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd2dbfb0-83ab-4d81-906b-ea689d34746a CLINVAR:586792 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e65fdf10-71f9-4d64-b18f-904f7b442d3e CLINVAR:447490 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a252396-09d7-461a-ac5e-afa6e3dd8ef4 CLINVAR:447490 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9b807439-d478-4122-86cf-b3b138555869 CLINVAR:447491 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93c95615-38fa-402a-95fe-4f4db6e32ade CLINVAR:447491 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 730a0f0f-8ca4-4261-823f-caf866169624 CLINVAR:3602128 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b7cdcb3-e613-423c-82f0-889e32135f92 CLINVAR:3602128 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 793bc162-999a-4857-809d-d13bfd64cba6 CLINVAR:2746579 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea3d01cc-0cf7-4a6f-b631-da9fb34620f6 CLINVAR:2746579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0508b0c0-8499-42eb-93c5-0ad29330f61a CLINVAR:3602127 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53c2aea1-931f-4a98-8475-0e67f9a91112 CLINVAR:3602127 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6ebbcf09-4c46-4875-91e0-286d2a640058 CLINVAR:1384058 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0986c1a-7c21-4bc8-848a-756abb942a49 CLINVAR:1384058 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2ae17703-996e-4e35-b555-02b33ef70be8 CLINVAR:377965 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24000912-1caf-4ec5-906c-3cf24a3cd4f0 CLINVAR:377965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54ff9f1e-08f0-4d8a-9f7c-dfe00533e1bb CLINVAR:36823 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac7c90ad-62f5-49ba-94d5-fcc5b3a0034e CLINVAR:36823 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 290d8247-5046-4d2e-a596-414a9119d376 CLINVAR:2691838 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0740d264-34ec-4b45-8222-a628d6c8451a CLINVAR:2691838 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 69cf1dbf-b20a-4e4b-baf7-e564372156a4 CLINVAR:2575051 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fe2b9d4-400e-49ec-8c2f-84589d8d10bd CLINVAR:2575051 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c3fcd93-cea9-4982-a636-0c2607213e8b CLINVAR:372380 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d226e624-9ef7-4c58-a422-4153c37e275f CLINVAR:372380 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c04a1948-8ec5-49c1-85ef-9c05d50c2f1c CLINVAR:846588 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b06daa1-da40-41a9-a664-90be163b7d0e CLINVAR:846588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f99e197f-6b00-4f4c-aa17-72fe4f167829 CLINVAR:1338446 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7032fdd5-9c68-4dea-9fb3-1b60308cf9c0 CLINVAR:1338446 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 260707d6-f17e-4afc-9bdd-0b2d03bd9c05 CLINVAR:447494 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98fe4a1b-18f2-4cfb-bbd6-dd4bbee4c6e1 CLINVAR:447494 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ca32d36a-a9ef-42e3-be85-8a91330b15bb CLINVAR:1746441 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba0f864c-0260-4cbf-91c1-8e5da2f949cd CLINVAR:1746441 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfa249fc-4ee6-4d2e-9ecd-a1685c233c7b CLINVAR:3767146 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69a70e1d-967a-48bf-acef-1cd69f995870 CLINVAR:3767146 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5994d45-73da-4666-ad39-b1df735c654d CLINVAR:2580866 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cde6c24-ce5f-4e2b-8165-728ef3270424 CLINVAR:2580866 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed2454c5-5219-4481-9cd8-24c797db483d CLINVAR:449035 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16dd275a-d029-4eaa-a016-1fbdaedae975 CLINVAR:449035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5978667-2a7e-449c-b3a7-16084fa2ebbd CLINVAR:3893278 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79ed64d9-c0c0-448c-b446-f9cde3999521 CLINVAR:3893278 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 911e4c1a-edbf-4ee9-a472-096f30eeada9 CLINVAR:2627337 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fab13ca6-c9fe-48e5-955b-75f89ef9c447 CLINVAR:2627337 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d39d08b-b9d4-4b26-8ad8-9852dff0737f CLINVAR:3893279 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25871f51-3956-4c93-be52-7393a8f3b112 CLINVAR:3893279 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3707c707-8228-45af-94d1-aca13926e592 CLINVAR:14944 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2e8c329-520a-425a-a6d5-97049431b403 CLINVAR:14944 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c27c919a-0e4e-48ed-98bc-6f042e3eb691 CLINVAR:4687885 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08f10ed6-35bb-4c6f-9704-ea5f3ea79b49 CLINVAR:4687885 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c0a7e4f6-21be-4aa3-8481-fe14895eecc2 CLINVAR:36824 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78c64eac-3a20-4424-aeb5-b0ac1737f870 CLINVAR:36824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35909dbb-e8b1-41c8-8dcf-5d3815c200ed CLINVAR:381588 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 033d34fa-1ce7-49b4-8d4b-371ea395d5f9 CLINVAR:381588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd2a9f7c-e910-47b7-a913-f21c85ae6d8c CLINVAR:1676706 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 817cf3e7-5f06-4394-9032-47df75c7ed05 CLINVAR:1676706 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8abe4ea9-0104-437f-9a59-3c33a831f6ce CLINVAR:1338381 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b715b19-536e-48ff-b20b-7ec19f2b63ad CLINVAR:1338381 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3cb3de3c-4205-4201-b0a2-4740bd4c9326 CLINVAR:129235 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e36e664b-bf11-4e68-af6f-26249842c37d CLINVAR:129235 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb7ac4ec-9866-410a-a640-dda515680df4 CLINVAR:4687886 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5dade7d4-9c89-4d40-a49e-4b8ff52f281d CLINVAR:4687886 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ed4d5f6d-4185-4b01-904f-5744479c6c45 CLINVAR:393434 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 700de307-438a-4770-9106-9a17285e169e CLINVAR:393434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 28df0841-e944-4493-98b7-3ec97d4c4ba9 CLINVAR:4687887 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6487b1e8-acbd-4c93-8bf6-7f30fdcb9def CLINVAR:4687887 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eba817c5-5e2c-48af-ad76-e91db5e7e9c7 CLINVAR:4796694 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0b7338d-a751-4ad7-836b-c5d1fa882727 CLINVAR:4796694 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 927d7dfa-5e12-4cd5-b16a-e61247d3fd81 CLINVAR:1699995 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2dfd3ad8-f3d1-4b3a-8773-64dba4eb7026 CLINVAR:1699995 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 662d301c-9eba-4ff7-9e17-4bb32c4463a8 CLINVAR:447496 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33a68908-3aee-44c5-a1dd-94fad301e1d0 CLINVAR:447496 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 776d7484-8b1f-4128-8348-8693461edb73 CLINVAR:586794 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c805973-f384-43be-bad8-36a618b8cfaa CLINVAR:586794 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3d0c46f4-877b-46d8-9bb2-0ac39420c5b5 CLINVAR:3238985 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e8f269f-76d5-4821-b01c-7ebb685ebad2 CLINVAR:3238985 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f10f5429-9f81-4bdb-93e6-18ce071a7203 CLINVAR:2691840 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae21e414-41db-431f-b5c2-7deb7facaf46 CLINVAR:2691840 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdc51296-7fb0-450a-a736-a7e72c0600a8 CLINVAR:2691841 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7b65338-c717-4e53-bded-34539d6137fe CLINVAR:2691841 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ffeec06-2621-498b-b162-ff813801bff9 CLINVAR:36825 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d75d705-6d12-4596-9d98-352594c4f96a CLINVAR:36825 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bb90110e-3925-439e-a0ad-9dcfe5687832 CLINVAR:36826 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8efe2602-9311-4ad9-a3e0-c51b3816a9a6 CLINVAR:36826 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 37a3f97e-7b34-4f00-b496-88e023ef596d CLINVAR:2691842 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77e8528b-f27e-471a-ae34-35697eee506c CLINVAR:2691842 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bbc4181e-11b7-4b2a-ac33-d3ffeccfa137 CLINVAR:2691843 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6473b8cb-b8f3-427e-ae71-125601159ea9 CLINVAR:2691843 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a59d0f5a-3190-47aa-8c77-3844c4d808e5 CLINVAR:2691844 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9edb35e0-bed7-4b9a-baa8-9f305ea59975 CLINVAR:2691844 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4a48b09-3459-42de-ae20-60fd5ac0d675 CLINVAR:1334142 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c408e267-2fa9-47b3-9f48-51a9d2115aa5 CLINVAR:1334142 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 88b1a496-c8e4-404b-b4dc-ebf3d2274241 CLINVAR:420064 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bc39c4e-095e-4e2c-b940-ac0823c881eb CLINVAR:420064 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 329e8763-12da-4da9-a7fc-e767d5478522 CLINVAR:2691845 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a5d2d62-c017-4450-b79b-674bde33eab6 CLINVAR:2691845 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44ce0f5e-4d20-4661-87c8-9406ba47cc3b CLINVAR:379904 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b70c16db-70ab-40ba-8519-b2baa903899b CLINVAR:379904 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6df8c433-ba0b-4f4d-976e-897289f8a4a4 CLINVAR:1676708 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b2d690e-1cdf-495b-b68c-6402542e46d7 CLINVAR:1676708 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aae1697b-b574-490b-b74e-ee9734aeb667 CLINVAR:393456 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd7da76f-6815-4b21-82b6-6fd36027dbd0 CLINVAR:393456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 691c17d7-1f67-4c24-ad5c-329194c09be9 CLINVAR:3338655 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 051546b1-53a5-4f23-9b83-954ba6ffe75c CLINVAR:3338655 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b707c04c-d34b-442c-845f-b21f1c9532d1 CLINVAR:1756327 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a163444-e3e3-4805-9ee4-6d3696d09d7c CLINVAR:1756327 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c4edeea3-f424-4132-93eb-cba6662f7a6b CLINVAR:1676709 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db79fb51-3537-459c-a5ec-7ba1e08bb784 CLINVAR:1676709 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 26e8e3bd-a540-44ea-acf2-664565188b7e CLINVAR:2682654 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95ec8d07-0dff-4f9b-b388-4e712b3ec8a8 CLINVAR:2682654 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1c0d2ff-a409-47fb-a98c-3e976723ba22 CLINVAR:2691846 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 178f856d-1d82-43bd-a0df-6dffbc7f9b9d CLINVAR:2691846 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b252a482-82c2-45a8-9e3f-42cd0aaa2380 CLINVAR:3358870 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9619c915-8579-498e-a43a-7b137a084456 CLINVAR:3358870 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ec9b7b5e-a7b7-442a-9970-03d85d7aa540 CLINVAR:1334143 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05d7a7be-356c-44b8-bb93-f6c702ef0098 CLINVAR:1334143 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a4a4a719-c2ff-4bea-a36f-7cb4be7db57a CLINVAR:1334144 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be61a756-fce8-47d0-a75d-12f39e36d0ea CLINVAR:1334144 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9933e0a-53fe-414f-a98d-529544a6f2a3 CLINVAR:1676710 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7823a8a-3a67-4ed2-a7ff-03602830c347 CLINVAR:1676710 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9b661bb4-b146-4806-88e9-c0990cd5f567 CLINVAR:3370452 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c5b0da7-c24b-4e97-9095-079a305ed45e CLINVAR:3370452 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f22f9145-73a4-4835-991c-ff2f22b157a6 CLINVAR:452526 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0956ed44-eb45-435d-93e8-acf56385d989 CLINVAR:452526 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bae5aea1-e4ef-4d82-8a78-05c98fd80302 CLINVAR:1327609 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2303f708-71a2-4529-9763-4745b5a38755 CLINVAR:1327609 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e1307cef-69a0-4029-b869-54d7e39b5930 CLINVAR:1327608 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2d01513-16f3-4900-bd43-d9f5fd3f4b4e CLINVAR:1327608 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 14d3f90d-8ee5-4b3d-9cc8-f8fda865bd02 CLINVAR:1327605 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b00fcaa-6096-4c5c-9f58-9249deb37f90 CLINVAR:1327605 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 779d08b0-b320-43b5-87ef-21fe21a4199b CLINVAR:1327596 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae1d9af6-f1a9-43c7-88d0-8cf41079d104 CLINVAR:1327596 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aac74121-23d0-4b56-9348-da55f0dd53e7 CLINVAR:1173962 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a05affcb-c732-4e7c-8e63-ed655a87c631 CLINVAR:1173962 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a55a18ca-ef00-40d5-be23-9c36883f5ae6 CLINVAR:1676716 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b699379-a987-4cf2-a7da-09fd7178bec6 CLINVAR:1676716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e48d1079-ca31-4e31-ab2e-b751deffed3d CLINVAR:972754 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffc2a1a3-46cf-40da-bc66-7e57219df8f7 CLINVAR:972754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6697e254-9837-4e6f-8622-e1fed0c0f4ea CLINVAR:2758582 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0a99ac4-36d0-4fe3-bbde-1ad024d75f60 CLINVAR:2758582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7a76ec5c-7a7c-45b2-b4d5-577c7751332f CLINVAR:3383934 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9f65f8f-3292-4b85-b668-6a757c6d7a5d CLINVAR:3383934 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2a1ad77d-28a4-4df9-a021-7c02dc93bb85 CLINVAR:2581121 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4dce403-79c5-4ee1-b194-45e7e7bfc540 CLINVAR:2581121 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 87459523-7567-4d16-abef-85085ce15457 CLINVAR:2581120 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d8563c1-d07a-4ac7-b62b-b7ab87c496dc CLINVAR:2581120 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3c6d925f-998b-453f-8432-6ed71167b7ed CLINVAR:265436 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d07262ef-d226-4f78-a6b5-3a345a3ee675 CLINVAR:265436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e04ad3f6-8fc5-486a-9546-51a09633d7d6 CLINVAR:1327600 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ec8fc05-59f8-489e-8afa-5f557cc209bb CLINVAR:1327600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f3b551cd-8b0e-4f26-87b8-b0ea29aef8b1 CLINVAR:562367 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b592dc9a-14cc-4379-a1e8-6845b85d8f86 CLINVAR:562367 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 054f45e9-f980-48c0-b595-8bbdf08a9efa CLINVAR:447500 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f75c2ed7-0ca6-415b-a14f-59acf3771c6b CLINVAR:447500 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bf9bed21-f98b-4c2a-8a40-e7aea0b4cf49 CLINVAR:379138 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 385707d4-069b-4c6e-92a1-faafccb4b58f CLINVAR:379138 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6d929e6-10e5-4a7c-bf11-c24389414957 CLINVAR:1676718 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab41bda5-bf3a-42b7-8461-2917b1c1dfdd CLINVAR:1676718 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd296e76-b36d-4e8d-a58a-b413c27b5337 CLINVAR:36830 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d80fd56b-7d29-40de-86e3-59aa55501ad6 CLINVAR:36830 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 12524efd-1390-451f-8582-f8032f52c2d0 CLINVAR:1327611 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 880a9a84-6284-4469-b7a4-4f99a30e57ba CLINVAR:1327611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 922be341-3b03-461d-b6bd-6cb6cf18b198 CLINVAR:1327612 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cb79cdb-c3ea-45c5-95cc-3823773e7ea1 CLINVAR:1327612 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8a3df5cf-da24-48f6-b2e1-1ff491c5a857 CLINVAR:36831 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bffe5f16-fa6e-4006-a538-6a962241abb2 CLINVAR:36831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 550a3e44-7dc6-49c8-8842-059dc90058e0 CLINVAR:1676715 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cf49766-dd9e-457c-b08e-8646fa8a0793 CLINVAR:1676715 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 85203232-cd18-4bdd-a758-3c5b82185990 CLINVAR:1338730 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18d1472e-7c73-44c4-b98e-fbc82643bd59 CLINVAR:1338730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 984e850f-19e2-4648-a4c9-92ae41626903 CLINVAR:265193 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9d282e1-b0d2-4dbb-a815-03afdfa971a2 CLINVAR:265193 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46a66031-2537-4f88-9cdd-156f5dc70682 CLINVAR:449403 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d97606fb-5283-4284-9e93-d7ab0960b57f CLINVAR:449403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01fa0ee9-be69-4d7d-8f23-11e21019724f CLINVAR:1676722 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e14a7699-21c7-4d24-a3b8-9f37d4b9b69e CLINVAR:1676722 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6be9cbae-fc03-4c04-a0a5-917d5ee91fed CLINVAR:447503 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c947085-314f-4861-afce-8f1a0a9db84d CLINVAR:447503 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ffd8ccf5-7a82-4c12-937e-19b968321775 CLINVAR:14931 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32b7e6f1-a4df-41eb-bf9b-ad019a6e0ae5 CLINVAR:14931 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63243038-3596-4846-9f11-87eca82a320e CLINVAR:14945 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c66bb866-d809-4dcf-8160-e0339433bd2c CLINVAR:14945 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28df5b45-7490-47dc-ad0b-86be4a63f668 CLINVAR:36832 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 551821a6-ed06-4a95-b41b-faba502d57c7 CLINVAR:36832 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5967e7ab-f582-4ee7-bd18-b0a80d32ccd0 CLINVAR:1342955 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5863cbc-05c1-406d-89fa-f0dbb978a368 CLINVAR:1342955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 05042891-cb9f-483e-b1d7-fb1b1fc69a02 CLINVAR:4845627 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21cb897b-a11e-4729-bb74-366c910e46ed CLINVAR:4845627 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4bd874e8-27ce-40f1-8bd3-8cb68bc42c6f CLINVAR:1676719 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6d50f48-5aa0-4438-bdf5-2ca473acb96e CLINVAR:1676719 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 20537775-a2a6-4ebe-a9ea-fb851150505d CLINVAR:435424 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1871cbc7-ab71-4b03-ae44-d3189bb18734 CLINVAR:435424 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9fef4692-7442-4b1a-a083-9ea165955eb9 CLINVAR:14927 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb7bd327-2900-4bb2-aaa2-b83aeb8b5ce2 CLINVAR:14927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e3f6672-ab63-4154-b196-b7ed843797b6 CLINVAR:805637 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89eeff71-98a4-40e0-bd64-9d7a473284d6 CLINVAR:805637 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e2f8feb-ae8c-40ad-a5de-65fc5b84dd43 CLINVAR:1804169 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96c8ab90-ea11-4c97-90d5-55468a82b177 CLINVAR:1804169 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a61ec4a-9659-4bbc-a3e8-4dac0eb5dac2 CLINVAR:586798 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98bf46f7-9051-4dfa-85f6-7723110c81c3 CLINVAR:586798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9df20881-7f45-4e59-817c-257d55dbba13 CLINVAR:617646 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15951600-96c0-497f-bd31-82028b12d951 CLINVAR:617646 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89ef7c8d-221f-4cb0-8268-9758eebf6c43 CLINVAR:1327621 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06b4ade4-f523-4062-9b04-bb3e4649a939 CLINVAR:1327621 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c2d53f7-0f4b-4029-acd5-a6621fef7742 CLINVAR:2010905 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5af5e6ae-3fa1-44d8-b844-04637628b9c1 CLINVAR:2010905 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 827f8456-a6fe-4e21-92c9-7996f8557908 CLINVAR:36796 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f37751f-2e52-4290-81c2-45019af830c1 CLINVAR:36796 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fcee075-f4a7-4272-b471-f59d1d04bcaf CLINVAR:1687079 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7ba0843-f82c-4350-9de1-d819977fed73 CLINVAR:1687079 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d222996b-8f9a-4752-8d6d-2df3c57709a9 CLINVAR:1675516 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e2a5cc4-f93e-4863-a4f4-1f3a0a257dc3 CLINVAR:1675516 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d06083f-638f-48dc-89b2-c256946ac486 CLINVAR:435426 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b1d1f8e-cff3-40d4-a7ac-631d92fa0a9d CLINVAR:435426 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfbf0a1d-d1ed-4596-9001-10ea5b3625c6 CLINVAR:3358872 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d2d5d9c-f890-4184-8936-5171e6a4d675 CLINVAR:3358872 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 310d95ae-9cde-42ca-baf2-40daab30a2c3 CLINVAR:3384229 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27145b64-718b-4c26-8611-61f0e9ac5d1c CLINVAR:3384229 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4463c625-e0d7-4c8e-82b9-9998a7b21241 CLINVAR:14928 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68323349-0791-4f16-b598-3cc9e904370d CLINVAR:14928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ebe9757-91e7-4930-9046-b0fa3e410855 CLINVAR:435427 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47370250-830d-4180-be6d-b171625c3713 CLINVAR:435427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ffd7c9d5-c101-4e48-bc73-bcd1e25cf7c7 CLINVAR:489311 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f9c70c0-dd21-4635-b3dc-0bcfc39b6a45 CLINVAR:489311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9aae1d46-85d0-4f2a-9375-32fb3037fe0e CLINVAR:972780 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77115836-82a6-4330-b6c7-22984caf12d3 CLINVAR:972780 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 95fdbc86-7195-40d9-9d13-5ff46ec00b5a CLINVAR:430837 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f8d6171-ce11-47c7-a06a-5132d3adc1e9 CLINVAR:430837 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4925b90c-534d-4d23-be5b-cb74ab8cf4da CLINVAR:1687080 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a0bf30f-a4e5-4e96-b8f7-aac32742ab2b CLINVAR:1687080 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a60303aa-0f5e-4eed-80ea-bd7d1e777be5 CLINVAR:1687076 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98aeeee3-c125-48cb-8751-0777bb4f6a88 CLINVAR:1687076 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2fee51f8-cd13-42fa-8b54-3d315658d3c4 CLINVAR:36803 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 480ef194-4ded-4372-884e-d78940fd65aa CLINVAR:36803 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7bfacce1-c648-48dc-960c-eb620945c195 CLINVAR:1693221 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29c62151-9fa7-4a43-b61f-e99df1948fdb CLINVAR:1693221 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf0f28d0-3152-4fff-8b60-18cfea4a1775 CLINVAR:1687078 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83d89766-167f-401a-b7d2-6190d29412fd CLINVAR:1687078 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31bd037e-9126-4c4d-b5ba-b401aa81734f CLINVAR:3338659 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 066c6b58-cb6f-4552-aa66-5f519fb4f87e CLINVAR:3338659 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 944383cf-8773-4bd1-9308-2e4da5a3dab9 CLINVAR:3338656 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba2cc4e4-3de7-4338-b499-b3644ab427c6 CLINVAR:3338656 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f585259c-b133-4a93-86bc-8b9c58c6ee21 CLINVAR:1693217 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ee31b29-9fc7-46ed-95a1-4eb9ffe19560 CLINVAR:1693217 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b3cca18-228a-4a58-a2cd-2ec2d3e96b10 CLINVAR:1687089 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a205d86-0fad-4f82-8348-9afb1bb6f814 CLINVAR:1687089 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7c5c6241-5215-4d1a-ba4e-2d0310a1ca5b CLINVAR:871739 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1a8a9e3-c081-4491-9102-85f20d98292c CLINVAR:871739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e85391a-a8fa-4caf-a713-1a764c5014a2 CLINVAR:3338661 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2361a618-f577-4b0f-89bd-09e9077f9c7a CLINVAR:3338661 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0917bb1c-ddff-4101-a3ec-67658d8da1c9 CLINVAR:3338660 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02697c33-d236-44b3-ac48-f341d4b92a03 CLINVAR:3338660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d8cfcea6-50fc-426f-9a6a-34d2a4fc0009 CLINVAR:3370444 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a92f681d-310f-4944-877e-1dce15c084e2 CLINVAR:3370444 biolink:is_sequence_variant_of NCBIGene:64897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6d0300e-80dd-4030-b270-f790d96513da CLINVAR:3370444 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d3e4b2e0-a8b4-4034-a72b-6ac383b5c245 CLINVAR:1687070 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 881df904-f066-4386-8b62-6a968f2fd82e CLINVAR:1687070 biolink:is_sequence_variant_of NCBIGene:64897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bd42f77-3076-422b-b9ff-0e29e298ba01 CLINVAR:1687070 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 14b1a2df-8f39-40ce-b4f9-fd54ea586efc CLINVAR:1315998 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf507544-14d3-4223-9e03-4494232213fb CLINVAR:1315998 biolink:is_sequence_variant_of NCBIGene:64897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a77390f0-957d-4137-a9aa-8e46d818fb4f CLINVAR:1315998 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8992fe1e-1d06-4cd6-bebd-a846e6a53b08 CLINVAR:1700003 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5415e794-2df1-41c9-9c44-e6f5b84a76ca CLINVAR:1700003 biolink:is_sequence_variant_of NCBIGene:64897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59e68dd6-630f-4a3e-be3d-480b8838548d CLINVAR:1700003 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 30fcc724-1e6a-4b15-b27c-d0749487df52 CLINVAR:1687084 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b827a743-a4fa-45fc-92f9-65cbbc2a1a4a CLINVAR:1687084 biolink:is_sequence_variant_of NCBIGene:64897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6286d0f0-1e9a-484d-a4c5-35a54ca078d1 CLINVAR:1687084 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8c31b138-9ece-47e1-806d-8fb80502c155 CLINVAR:1687086 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9470a68-d757-49a0-94b9-6b06582bdcd7 CLINVAR:1687086 biolink:is_sequence_variant_of NCBIGene:64897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11872661-5df9-4233-9177-30592a351e49 CLINVAR:1687086 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad94bd3d-1adc-4a7e-ab70-46dc66ea92b6 CLINVAR:1687087 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e457d95-69a5-477f-8e3d-21a330c1704c CLINVAR:1687087 biolink:is_sequence_variant_of NCBIGene:64897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 799f4cc6-a4df-403f-8b51-e3d6cf86abe3 CLINVAR:1687087 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 72e13fad-18da-49cb-8735-29ab646382d9 CLINVAR:3338657 biolink:is_sequence_variant_of NCBIGene:6927 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20447e2c-1c33-42c1-bb1d-b32756fbe044 CLINVAR:3338657 biolink:is_sequence_variant_of NCBIGene:64897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30c8b288-08d0-4dbe-8dc0-b889f155f364 CLINVAR:3338657 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 94e7840d-a24e-48ff-a676-0dda524c0e22 CLINVAR:438620 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5275e74-4097-4f4f-9288-22686231c2c2 CLINVAR:438620 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4e367402-2ad7-4740-8f9e-8ee2409db980 CLINVAR:225375 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e99a23dd-bfc3-47e0-baa2-b6260e564e9c CLINVAR:225375 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62276048-6f1a-4d18-a8b1-49538219367f CLINVAR:429984 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f360decc-57f7-433a-9557-45414aa440ff CLINVAR:429984 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2a90266b-114b-4f51-9ad6-6a6f41e463a8 CLINVAR:590799 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a05590df-f923-49e9-a16a-44707e6de64e CLINVAR:590799 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 876baf4e-73a1-4ba3-88eb-372af3d384fb CLINVAR:17014 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8928880b-37ac-43d4-b6db-870ed059988d CLINVAR:17014 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2156c419-5a42-48de-93c6-fce24c140ed3 CLINVAR:44731 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3a30638-858f-4b0b-9f79-d8ccc013fcbc CLINVAR:44731 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 421620e9-0cfe-4ef1-aecf-0caad36a08d5 CLINVAR:17010 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8966a955-e726-4b90-8354-fe2da8c34341 CLINVAR:17010 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5de80df-6b43-4e4a-966d-91112ff7b0c3 CLINVAR:449490 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4aecf505-ebdf-4e92-887f-5bd8eeb3b782 CLINVAR:449490 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eecf7a98-df46-4f5c-a171-fad3baccab4a CLINVAR:17023 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13da289a-a7b8-4165-a93c-682a1303f5a3 CLINVAR:17023 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2ebd554-5903-4290-abe4-68773c941ec7 CLINVAR:17000 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36e9df42-ad32-4a8a-a069-a0bdf61620f6 CLINVAR:17000 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f22323d6-f8ce-488d-8df3-4d309e47d0ef CLINVAR:17002 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar baaa8297-1331-435d-ad83-ef9cfcbf1f94 CLINVAR:17002 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2b44719-78a9-4aef-bcd6-a06636961d64 CLINVAR:21389 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 651af533-adc2-47c3-befb-456b45baf0da CLINVAR:21389 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5df789f8-d6bd-4c14-a78f-9674916df0d5 CLINVAR:17004 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fead5d4e-f241-4f90-aeff-8489aeabbc2c CLINVAR:17004 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c6a2852-0b56-46de-81fd-257defe2641e CLINVAR:44740 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a77435f4-29b6-44b3-8d6d-4a1cdce7cbf9 CLINVAR:44740 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel feb2d145-8d6f-4100-9610-5045c9c988ce CLINVAR:2070085 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52d4e84a-7fd8-4e1c-914a-ae1cf7937433 CLINVAR:2070085 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 70f89739-1764-44a6-b86a-693f40ce8108 CLINVAR:551915 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 833874da-767d-4faa-b708-21cf423a384b CLINVAR:551915 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4908dbd7-cc70-49ac-8a11-56d732feb17e CLINVAR:371781 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d37993ac-bf54-453d-bbf3-022256f6c76c CLINVAR:371781 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1271f2cf-ba62-4203-ad7d-0d694473ad39 CLINVAR:550716 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 272ba731-1f6e-47c6-ac16-d950bb4ee2be CLINVAR:550716 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eac5c6bb-0f91-4644-bbf4-6d2cec293f1d CLINVAR:44729 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3037548-27a1-49ee-8796-0d223f21a72f CLINVAR:44729 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel afbc4fc9-069e-40f8-b9e6-b03e019e4d71 CLINVAR:375406 biolink:is_sequence_variant_of NCBIGene:2706 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a18cfe5e-8079-4351-82ac-7e3657b31408 CLINVAR:375406 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel be1c8384-3c60-47ed-b7ac-ad535bacb82b CLINVAR:2008 biolink:is_sequence_variant_of NCBIGene:6445 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6652ab37-123d-49f8-b4c0-44e10b9045cb CLINVAR:2008 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0264272-d176-41a2-b48e-4d1aaf044d21 CLINVAR:289650 biolink:is_sequence_variant_of NCBIGene:6445 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb5716ec-6ad5-451e-a41e-6b96f073464d CLINVAR:289650 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 367c8d27-5dac-4cf0-8f49-b11ca9a68ea5 CLINVAR:208611 biolink:is_sequence_variant_of NCBIGene:6445 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4ca8207-6dba-4ed7-a3cd-1277781e3f29 CLINVAR:208611 biolink:causes MONDO:0009677 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2d6accc-7b2d-4597-9537-635152cafba3 CLINVAR:189243 biolink:is_sequence_variant_of NCBIGene:6445 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6210cc5-c3de-48b5-8a7b-a21cbb3e1405 CLINVAR:189243 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56008c24-f9f0-4af0-a112-31fab83209a2 CLINVAR:1323589 biolink:is_sequence_variant_of NCBIGene:6445 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfb10ed0-88ca-4144-8ea4-56e6ed01035a CLINVAR:1323589 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86947007-bc30-4e85-9e78-4d6c1ff1e3dd CLINVAR:836267 biolink:is_sequence_variant_of NCBIGene:6445 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44ae9b4c-5988-4f33-b427-6040886e1e1f CLINVAR:836267 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0175ab9f-55bb-42b2-92ab-8827ee1e3f4f CLINVAR:940200 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f6914f6-34b3-4f8d-8a5a-4d96f0eb40ca CLINVAR:940200 biolink:is_sequence_variant_of NCBIGene:106721785 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd833ded-a438-4216-8cb6-4a4dc4242bf2 CLINVAR:940200 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a8282d06-5aaa-4cb3-b797-02831287ecb7 CLINVAR:51579 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87621869-5f48-4372-a366-ea32bce414bd CLINVAR:51579 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 304476c2-df3b-4977-9cb8-626b3c967742 CLINVAR:51985 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df89ee4f-cc16-44ad-b326-637d04e3ff9f CLINVAR:51985 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2718c9f4-a99c-495c-8626-2e590426dbe0 CLINVAR:51063 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c64e2ce4-b9e0-4d2c-897e-d3187fef65b5 CLINVAR:51063 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 039bff49-0246-4da3-ab7f-ee636c2d0161 CLINVAR:421342 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32b2c2e3-3051-42b0-ba63-99e380d508ad CLINVAR:421342 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75e8c8a8-c173-4fe4-804e-851f3d7d23c2 CLINVAR:51198 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94b5fbf8-9e1d-40ac-9c59-f9e80227f2a0 CLINVAR:51198 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b12b1dbb-71c7-4ba1-bdb0-4c74bf1f11b7 CLINVAR:51267 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb786f32-165a-43b6-b0a9-3b285b5d7a08 CLINVAR:51267 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63587f7f-daea-442f-9102-0f4aa62e76ef CLINVAR:51330 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33204b5b-f96f-4d06-8233-0ae5e26df695 CLINVAR:51330 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 878d5036-1ee9-481b-8235-678c7c60bf1a CLINVAR:51509 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fafd7033-c073-46fa-b899-2829e560caa9 CLINVAR:51509 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fde935b6-1358-4744-bb57-350d7a0957e0 CLINVAR:51508 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd6b9cc2-3a14-49f4-b3be-7e019f6f2121 CLINVAR:51508 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb0a35a0-7981-483c-89d3-633b0a617827 CLINVAR:51528 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5beaa50e-c313-44ec-ada8-018833db1c4a CLINVAR:51528 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af3bda15-a967-4d23-869a-a1ea0b42c6c4 CLINVAR:125980 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4910676c-efc6-45ad-8de7-6bf4defb342c CLINVAR:125980 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7cfa661-b6b1-41c3-98ac-781918a8dea8 CLINVAR:51527 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37180c62-becd-4471-ab7e-96e5b6ddca55 CLINVAR:51527 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50595bce-962d-4191-82a8-848ca383d400 CLINVAR:266836 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bcae8159-a2fe-4483-aa80-af60ce05b97e CLINVAR:266836 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6a9e323-6723-4efd-bf20-f23e0f97aa59 CLINVAR:266834 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65532025-7137-4069-aaed-ab301609689c CLINVAR:266834 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f6c5905-8ad8-4d78-9d80-2b9631387c4c CLINVAR:51814 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92276e3c-ac51-40ec-a25f-65b3c52b7e5b CLINVAR:51814 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9ad37e7-7e2f-4bef-b28a-a610fb26fa10 CLINVAR:266857 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 644180a4-2275-4a88-a12b-1bb64477113f CLINVAR:266857 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 897e6182-5a64-4ac1-80f8-e6c9b26958f4 CLINVAR:51815 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 221d0655-06cd-4d4a-ad9d-6efc27081afd CLINVAR:51815 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a3ba9053-7427-4d63-901f-eff8f4d272b6 CLINVAR:52081 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e8fc2a1-ba75-45ec-9020-e86bb6ea64d7 CLINVAR:52081 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb805deb-4a3a-4ffa-8863-41ff2940c455 CLINVAR:52161 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad7085ad-0a95-45fd-ad61-8afd1155cf08 CLINVAR:52161 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0efcbc1-a9d7-4be6-8273-a014fdbf555d CLINVAR:52286 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f903f741-151d-440a-9b39-5bafa1d2d899 CLINVAR:52286 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 440b7b6a-9762-46ff-a509-7e4533b4e801 CLINVAR:125993 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc78cc44-4001-4598-b00e-fb018489c836 CLINVAR:125993 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d22cc412-652e-4614-becf-ecaed4b8c93c CLINVAR:52285 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38d743ef-7717-43c4-b0c9-258c6016a754 CLINVAR:52285 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad0fcf63-92bd-4b8a-8528-32d7fcd40717 CLINVAR:266991 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c65d444-4ec0-437b-bbdb-e286df5eaae2 CLINVAR:266991 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c0c99c0-1609-412c-b52d-0c109674dc43 CLINVAR:267008 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c4ad954-baf2-41f5-a037-3c2e77a414fe CLINVAR:267008 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65c2a959-824b-4388-bee5-09a1ef1d7b17 CLINVAR:252407 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33430dd0-3884-426f-9965-9fb75b1d7faf CLINVAR:252407 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98cf4f40-fab5-46bd-adb4-459e63c3ff51 CLINVAR:52659 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6f854ac-4ed0-4878-997a-755e7d26e2c9 CLINVAR:52659 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 738fddfb-73fe-4292-afca-223e3fb3eb9b CLINVAR:52808 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11090ae1-28f1-47c5-a128-afe1ffdc1982 CLINVAR:52808 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 777d5484-c4bb-49cb-96ba-09c04a76544d CLINVAR:52829 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c71646aa-0ab2-4a4c-81b6-b7c21c8ae900 CLINVAR:52829 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba00a8af-7679-49a9-927e-d8ed0173542a CLINVAR:52900 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89050ae4-e2aa-480d-b16f-027ae98d2984 CLINVAR:52900 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58bf5e7e-4070-4b30-9fa4-24145be15f63 CLINVAR:51041 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff993627-cd47-43b2-b81d-94457f4d3243 CLINVAR:51041 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13889c1a-3fd5-4059-a1ac-7c2b88f41129 CLINVAR:266602 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51d822cf-610f-41d8-99e1-bef7ab100f87 CLINVAR:266602 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8d215e3-8963-4709-8a16-89153402681d CLINVAR:548439 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8bc9609-d907-444f-afce-30105806efd2 CLINVAR:548439 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27fc1d2b-da88-4d8b-893b-9ac88fd62fde CLINVAR:266603 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bab85967-0602-40df-8b7d-57d7e93908ed CLINVAR:266603 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 716c5a95-1e4b-4839-b5da-8de68d528071 CLINVAR:126005 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5db97508-3480-46a4-ace5-2a449bb03455 CLINVAR:126005 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel caf424f8-3446-4dcf-8b82-4183373fa66e CLINVAR:266608 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9eec1d4-2f4a-4b95-8dce-0b85be8835da CLINVAR:266608 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a64ad338-eff6-46ef-a59a-e090f5ae6e6d CLINVAR:266610 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ff5cf1a-18da-4908-8d43-9a32ce504e0a CLINVAR:266610 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8706f409-10a8-4d98-be21-d5a6768812ac CLINVAR:266611 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29f99ceb-014d-4959-9761-9b93b458131f CLINVAR:266611 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eaf2c928-47f4-43ab-8c04-dca28aa52187 CLINVAR:51074 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe1031ba-124b-4e25-80ae-e7c5f2076f44 CLINVAR:51074 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35735a3a-fff0-4942-8d2d-3d990d8d41df CLINVAR:254472 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 670f439a-9fb8-4c44-a1f7-127c7cb77012 CLINVAR:254472 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21dce7cf-7d34-403f-a881-62b48ddf9701 CLINVAR:422823 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c0ccc3c-3ef3-415f-b633-a21ecf8d8b79 CLINVAR:422823 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e759cd0-3d96-4a45-94f0-f2945ef7b47c CLINVAR:266621 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc525d7c-48c4-45cc-a106-2c8f48560161 CLINVAR:266621 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a344a3a-8189-4d19-b211-53825064419e CLINVAR:51096 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5da73f5e-ea38-4c86-a270-7334f2fc723c CLINVAR:51096 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07a036b3-cd3f-4d5d-bfb7-398ad78190d3 CLINVAR:266622 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1b7d627-092e-4a77-8587-3606993e9c3b CLINVAR:266622 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee20dd7d-4d90-41f3-becf-2ecdb3eba790 CLINVAR:51104 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5aff8187-88a0-4c48-80c0-554024f9c6ff CLINVAR:51104 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67687b17-88b5-41f6-9bba-5f7417271069 CLINVAR:220237 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar faf7c518-4926-4bf0-b18e-1067ed044b5e CLINVAR:220237 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 149f8055-7c4c-4b3a-906b-7e2542511267 CLINVAR:51129 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b03b4d2a-42b1-424c-ba3f-d554b0b08baa CLINVAR:51129 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a938ebb-6813-41c4-9211-dbab90fdbb8a CLINVAR:51138 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3c91941-4ad7-40ac-bdb2-8ca699ea0d8c CLINVAR:51138 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ae44f69-d7c9-418f-b4e6-ba5480b795f1 CLINVAR:224438 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75caf32c-0c63-4c71-ab21-b9836e7cd9ac CLINVAR:224438 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4ef233c3-1a3d-4af2-bbce-fc90241c671c CLINVAR:236276 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98509520-1c62-4267-a52f-4ed12cbbee7d CLINVAR:236276 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7b74018-ac88-4ed8-a101-6109636cca4d CLINVAR:419713 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70a3eae3-09af-4125-b13c-7725838fe9da CLINVAR:419713 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de651660-9fb2-43c8-9887-86335ac709ac CLINVAR:51177 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 521ed392-9533-48e0-876d-8d71c77b219b CLINVAR:51177 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d955df39-e93b-49da-80a5-d39d3e6d10a8 CLINVAR:440434 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0310548-b52a-4229-b6d7-21a84840a196 CLINVAR:440434 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a1d28ad-56ca-43fc-a6eb-c785c471d1bc CLINVAR:232879 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d1fcddd-7fe1-4395-908d-77655db36955 CLINVAR:232879 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85d8bd78-5d5d-4629-b20a-6654d60113de CLINVAR:51179 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a390d53-3f03-4cd6-89bd-13bfdb4d772a CLINVAR:51179 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5ebe129-0971-431b-b76c-6fd35cc85d17 CLINVAR:51180 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4412c3ce-1fcd-4e0c-8b44-89da25adf410 CLINVAR:51180 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cda4868c-8e4a-4df7-8494-d4c53dba40a3 CLINVAR:233584 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff856377-460f-4984-8f15-f4d301d199e4 CLINVAR:233584 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d833501-ccce-49ff-9f98-9dab12f0b3dd CLINVAR:91761 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa800502-e64c-4b9f-b026-e5a5607c25c0 CLINVAR:91761 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0832a81-7e29-4a8d-869b-50c351b5d895 CLINVAR:51233 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a11d83c7-ec9a-4cef-8de6-a6b91e959f19 CLINVAR:51233 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0f3f483-f538-40ce-9364-57f133612abc CLINVAR:266672 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4a8eee7-9783-45ef-88f6-db7e5aa0f2b1 CLINVAR:266672 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e02b684-94b8-4e1a-b681-1ed9713f0909 CLINVAR:254473 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f44190d5-d110-4a7d-a91a-ba9f24fd1c83 CLINVAR:254473 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eda1c238-a38f-4752-a9f5-b831a24c2045 CLINVAR:51239 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aea2c7f3-feba-43c2-a07d-c08d02a7b2da CLINVAR:51239 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 734a5b6f-4ed4-4086-9ccd-3a21ec784ba4 CLINVAR:409464 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe5f07aa-fc88-44e9-9b9b-c3273f503c8f CLINVAR:409464 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22f69d69-eb9c-4258-b055-5725404834fd CLINVAR:266679 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50609b3a-cd35-4036-b0d2-08837b582993 CLINVAR:266679 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 006ba277-10c7-421a-a1fa-3b5343cc58f0 CLINVAR:51252 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d917ef7-52e4-4689-9e4b-55e659b9eb17 CLINVAR:51252 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32f908fc-5f12-457f-be3a-6f8c16fd5fcf CLINVAR:91770 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0bc726e-c475-4d70-9ec5-00efea08efd9 CLINVAR:91770 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b47b5090-bfef-4b98-a802-c581be075ded CLINVAR:418075 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9a68a27-29ca-44d3-a047-da58eb8f4dc1 CLINVAR:418075 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2f8252c-f7b8-4870-97cf-aaabb5af7877 CLINVAR:548413 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2eb73105-501a-4576-8161-362d12971857 CLINVAR:548413 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e477059-87f2-4de6-aa19-12421d05cf27 CLINVAR:266687 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac8f9572-46ba-4303-bd01-4fb6bc85dfbc CLINVAR:266687 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8dcc876-fa08-4a18-a8c3-449e42696d0a CLINVAR:51265 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11b7484d-c3fe-449d-ae14-b112ee1efa2e CLINVAR:51265 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0164525-acd9-4d2e-962f-64ec4e1d1821 CLINVAR:51293 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a52acca7-63de-4d6c-8c84-f74b1c9d743a CLINVAR:51293 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 145e5468-53d6-4e49-8d32-6e181cfb747d CLINVAR:433746 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c588130-534c-497a-b7d2-954ce771df62 CLINVAR:433746 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43a5b488-5d35-49e7-81f4-7dfbd075feb8 CLINVAR:51288 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b084aa61-eba1-4795-99e3-fa74867a2256 CLINVAR:51288 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9a51ff4-4aee-4539-901a-82f97cd5bf00 CLINVAR:266702 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f64e8293-928c-423d-81bb-1c327d6a0423 CLINVAR:266702 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf1305a0-b551-4564-b952-b3e27f8cc23b CLINVAR:266701 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eab99285-77d3-442f-b130-ef38ebff5b7b CLINVAR:266701 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b5a9b6b-7d8e-46b9-8930-ff95c947b337 CLINVAR:266705 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d691939e-588f-4bf4-8c2f-cc0f47f0d33d CLINVAR:266705 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5664928c-93f4-4393-9a57-b030f09e46c5 CLINVAR:51298 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b35ea1c2-af31-4d3e-a176-b04aef5c8a8c CLINVAR:51298 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86c3ca9f-45ce-4da7-a010-8f78bc26343e CLINVAR:51317 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 118de7dd-f3d5-4c9d-baba-48c757b664c3 CLINVAR:51317 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 744a222c-6b49-4c6d-92a5-f6774d3bd976 CLINVAR:51321 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad237c24-be05-4e43-8afe-ad668f11cda3 CLINVAR:51321 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6cfcb5bf-c155-4340-aaa8-e0948c89ffb0 CLINVAR:51324 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6dac6d07-7674-4b9a-8192-ab982b896b73 CLINVAR:51324 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb3b4dc5-fb72-4493-9a67-3306e3aa6747 CLINVAR:421301 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61ea4460-a0cd-4eb2-9f2b-67645c7923a4 CLINVAR:421301 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55922449-6ab4-4dec-9374-42dfa8aec546 CLINVAR:266715 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d81129b-17ac-4b44-9721-367c81041dfe CLINVAR:266715 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf0d9d3a-21f2-4404-8bd3-1045a85c85e3 CLINVAR:51334 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 131585bf-ca2a-480e-9a83-4b5c0bca3ec6 CLINVAR:51334 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c52fee8c-dcd1-4ad9-b24d-63927fc95d38 CLINVAR:51335 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51e35011-350a-4e83-bef2-234cd9814b22 CLINVAR:51335 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c3bbdd2-996f-4c1f-9a6d-4e0882d5d57a CLINVAR:51339 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b197ed83-03cc-403e-8227-aeb39002db88 CLINVAR:51339 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel daa5af17-6fac-4a3f-8d90-910a105010ff CLINVAR:37799 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 906eccb2-09d5-4307-a455-0c3db9e1a9e5 CLINVAR:37799 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 879ac1d4-996d-45ff-978f-1f6440c70643 CLINVAR:548332 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 540deb26-0a1b-4b84-9685-1999b11c0633 CLINVAR:548332 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88d14af3-cc73-443a-a64c-01ecd72f5962 CLINVAR:810853 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c3af1c7-d9f2-487f-b217-f68ed7bdd616 CLINVAR:810853 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3569c78-879b-4e6a-addf-ff7894d0cef5 CLINVAR:51368 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6733af84-5ffc-4fd8-beb0-0a2c1af3e244 CLINVAR:51368 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 009e5477-f749-41d3-bafb-c0989d9999b7 CLINVAR:427238 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3719d669-5d3e-4ef9-a9a0-787e3fc267a2 CLINVAR:427238 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5005e8b9-8175-49a4-9937-3258dd96f930 CLINVAR:51382 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24775cef-a2c1-4ccb-87aa-d8575f94276f CLINVAR:51382 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97c06d01-fb9d-4884-9122-fd2dfa99c434 CLINVAR:51392 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 400616cf-4637-4637-bd0f-76a5b23b9a7a CLINVAR:51392 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60e23109-d2d2-4542-8cfc-713d301233bf CLINVAR:51406 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60b9bd74-d5c6-4eb4-9aea-06625c7fac8a CLINVAR:51406 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06e82449-6105-40d4-92aa-0563edbceb68 CLINVAR:185890 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8553674e-840b-4396-9c7c-2dfa4a395fa3 CLINVAR:185890 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96cc0d29-06a6-4f89-9e48-d1ed9c3fb19e CLINVAR:51407 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5c386ee-9fc5-475f-931a-14e47d5f59b4 CLINVAR:51407 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ac1ec76-898e-4c49-9302-b98e2a7b05d4 CLINVAR:51408 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9300c715-bbad-4ebc-9712-e0f9a7c0a63d CLINVAR:51408 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50e4cc17-6101-4586-a1dc-989f8d25d984 CLINVAR:51409 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68038aed-4079-4e74-93fa-6dc7be855c67 CLINVAR:51409 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2832c117-287a-4aa4-8556-db6ea986e3c1 CLINVAR:51410 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3eab9414-f930-40ba-8179-79df32497928 CLINVAR:51410 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 517cde16-7356-423b-94a1-b3ca5a009d08 CLINVAR:236850 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0af34709-5e03-4011-9e3c-4078a940fd88 CLINVAR:236850 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fefa5bb1-2f40-425b-9db8-40d66cc12428 CLINVAR:441336 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4610d871-9551-4493-b08a-f6c1c1a2f1c5 CLINVAR:441336 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2816749-295c-481f-a948-22d6d9d062ba CLINVAR:419801 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbee1130-4121-41d0-b169-9d8790415e5e CLINVAR:419801 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 296937a2-4671-4aa5-8dac-89e761b7d143 CLINVAR:51499 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6734fed-7eb1-411b-b943-5b34b686f4e1 CLINVAR:51499 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 739c86e2-995b-4d43-afe8-d2540ae2e9a0 CLINVAR:51510 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8a6f654-4d30-4c12-918d-0fc5812bcb7f CLINVAR:51510 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d30558c-c741-4756-b09e-04f5940e6b81 CLINVAR:266764 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4852e7f-68a7-40dc-95c8-031e25be32ec CLINVAR:266764 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1110ae83-62fe-4c35-ab61-cc015918bb50 CLINVAR:266766 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bb1dbf8-cbc1-4049-9d7b-67dbadfa6596 CLINVAR:266766 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68dcf866-b24a-40cb-a4eb-5b02721aa205 CLINVAR:252437 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c8df8d3-9497-4840-b5dd-d931b4f4c048 CLINVAR:252437 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7d746fc-a444-424d-a69e-ad391a8585bc CLINVAR:254474 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6eda61fa-ab5a-4e79-8dd0-5bafb46a9f9c CLINVAR:254474 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 288172a0-b7dc-4a04-a8b7-afe774fef10b CLINVAR:37869 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d49e4698-4ec5-4663-886e-7930b69a5dbf CLINVAR:37869 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8ce8be0-3288-40fd-9e25-f798b3fc6843 CLINVAR:37876 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df4d1653-0d9e-4f5e-8a88-05056b44c82d CLINVAR:37876 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ce1477d-f0a3-4543-9f46-a3e71c1cd22a CLINVAR:230932 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 737e23f3-495d-4107-991f-3364cbc333c1 CLINVAR:230932 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be781f26-3361-4b1f-a979-126b5b163ad3 CLINVAR:51598 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f742720a-ffcb-49ce-bc8b-b1b8dfcd1b38 CLINVAR:51598 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da35b65c-6d58-4295-8c1a-27e1607220d1 CLINVAR:254475 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57da7407-114f-4fa1-b31c-9a7a55194384 CLINVAR:254475 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2cf40a6-c315-4cf3-9a27-76b627bd7d4b CLINVAR:266800 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed7ada9f-dbb8-4b00-9883-9ca6e7a408cf CLINVAR:266800 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 524c6101-fbdb-40b7-b863-282db6172441 CLINVAR:141697 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87e11098-5194-4ff1-8dd1-d20f3917c2fa CLINVAR:141697 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec8c1ab4-4f67-458d-9035-427b2cc1c2ce CLINVAR:266804 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68734b3c-babb-4815-8bea-10e9ed07a122 CLINVAR:266804 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2ce06a6-f0b2-44c6-952d-c87d427927b1 CLINVAR:51639 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54a5fca9-8875-49d6-a19b-2c565294da18 CLINVAR:51639 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2fde3ed-b9c0-4895-b0b0-00e8a8d837ba CLINVAR:51641 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b26937a-7734-4330-8a9b-e21453b6133d CLINVAR:51641 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63d67428-f081-4514-99c8-b889ec397e12 CLINVAR:266811 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3951ebf-f217-430c-9002-d49160038b7d CLINVAR:266811 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 73f7e82b-87aa-4ac2-8c73-4cf1e122d43f CLINVAR:231715 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc1c30b1-c066-40a5-9c0a-2dd54be4b9b6 CLINVAR:231715 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e361206-0be1-46c6-99af-b724ace0d30f CLINVAR:51684 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62bc3196-24e6-46fe-aa1b-6e5fe35c2d11 CLINVAR:51684 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f564bff-829b-4779-a36a-20f9b6c01955 CLINVAR:266824 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37afc2a3-b661-4965-9e04-8c49cea77467 CLINVAR:266824 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d09b70c-2dc2-49a4-bfe6-63ffbcd1c374 CLINVAR:51688 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01b094c6-7e57-45cd-ab0d-175f067cb9e0 CLINVAR:51688 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d20e7d3-7916-4513-a8a8-d85a03ffa9db CLINVAR:548347 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94f91ef3-4497-4cf8-b400-6adde0b961a8 CLINVAR:548347 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2af56daf-bc17-4221-a5b7-d24f23682a2c CLINVAR:548417 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57153049-5d12-4e32-8c7f-159500b7da3c CLINVAR:548417 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a2636ea-8894-4c1b-9882-86c2449df667 CLINVAR:266827 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81a357be-7924-4592-aa86-775634b13d15 CLINVAR:266827 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3fa769c-3526-4759-a29a-741d014665db CLINVAR:266826 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49ace1e2-245f-4208-bda6-90aba7ac0a80 CLINVAR:266826 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 508fa182-9f25-465e-bd52-3e77daed2a67 CLINVAR:51698 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c4f6898-5d14-422d-a45d-961ed312d154 CLINVAR:51698 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b39ccfb-6bbb-41b8-8fe2-71d49dd94ec7 CLINVAR:51701 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1fa8bf25-4828-47f4-82f3-5262b67898ce CLINVAR:51701 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7dfc478f-f82c-4ec7-9f68-09ff06d6a276 CLINVAR:266825 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c50acb0b-f78e-4067-b398-314869182dd1 CLINVAR:266825 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00c0f956-7fe9-4366-a445-c55d0accc117 CLINVAR:409440 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18c2f8b8-4791-4ae4-bda9-c009299431e8 CLINVAR:409440 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7fca4ff-3d82-4c1d-b235-f129cbefc9d3 CLINVAR:266828 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54bd66a4-5bf3-42f6-b101-3c840e378949 CLINVAR:266828 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0649898a-328f-46c1-a7f5-d0f2f363ec51 CLINVAR:266829 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14c71b6b-ca32-4019-94d5-2342a44ef360 CLINVAR:266829 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f745422c-3498-43dd-968a-33bf55c4ea4e CLINVAR:51708 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44d0ff02-ec2e-48c8-a69f-99d0157d675c CLINVAR:51708 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b1083ae-59a5-4603-acde-11c72a0d9c1e CLINVAR:51709 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e66ba13c-093a-4ba2-a614-ac3ff41a36a0 CLINVAR:51709 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f178e3ab-e002-4b26-9264-bfb48773d028 CLINVAR:37923 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cacc09c-159c-46c7-b6dd-12318567afb6 CLINVAR:37923 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 843661ee-da19-4594-8666-e8fff3de27ba CLINVAR:254476 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07e072f5-ecd4-4a11-a7fa-7fa65c621b41 CLINVAR:254476 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a184dfeb-2fd3-4045-8772-0a11c19900a4 CLINVAR:548342 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7f583dd-66d8-4dcb-8c1c-f14d7de02b19 CLINVAR:548342 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ac47b4f-344a-4b39-9b53-11b2ab1ef1e7 CLINVAR:51733 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 022ee949-8f66-4d46-af4b-5979f3b99b64 CLINVAR:51733 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8624aae3-a155-43bb-a220-ca5bb36c5c7c CLINVAR:126124 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38f6ddd8-aaf6-48ea-b8bf-9d4e65aa861f CLINVAR:126124 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab2ad371-17d0-4e31-bce5-3b54303b0416 CLINVAR:51740 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6873d1ed-9342-4e4b-99ca-8b1c8ac77846 CLINVAR:51740 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11648a9e-24ff-417a-9d8e-4379beacbaee CLINVAR:431287 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 156e2638-7029-4d03-8224-ed29406507e8 CLINVAR:431287 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7d2e869-8212-460f-8c5a-a9b01d2f11e0 CLINVAR:266846 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0a1a3e2-c9b1-41d9-9ebc-329c7342a371 CLINVAR:266846 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b1bda26-352e-4cb6-95ad-3e5f19da063c CLINVAR:91834 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59b1edab-6c96-4ad4-80f4-f0271dd7cb9f CLINVAR:91834 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 675a7785-ae84-45b9-b10a-e2599aecc79b CLINVAR:548405 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19fbebaf-ce20-4d90-a3b2-381f1cd94030 CLINVAR:548405 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 823543e5-75c3-4768-a9c1-88f218dc4579 CLINVAR:51801 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03bb3f2b-fd69-4468-a280-f0e61b0162da CLINVAR:51801 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e764d8c5-07e6-430e-8ed0-244215cc6a19 CLINVAR:37949 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee9ebbaf-756d-4896-a034-405b1c182737 CLINVAR:37949 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89ea3696-d6d1-47e0-8899-9d76421dc3e2 CLINVAR:409558 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9158cc9a-898f-4a08-9539-2038353c4845 CLINVAR:409558 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 867f6417-e749-4cf1-a6d5-69ec4af45552 CLINVAR:254477 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94e40d48-48a4-42cf-9ee7-0157102b3256 CLINVAR:254477 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f04d3bd4-aab1-4c3d-ae42-9d89dea1e924 CLINVAR:51851 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 627af3ec-d9da-4fd0-ae90-61d24a1dca7f CLINVAR:51851 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b662932-23c0-4b1c-a720-89f124c4013b CLINVAR:51850 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f7d8121-b4bd-4cbd-9d02-df2839c93c04 CLINVAR:51850 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4abe7036-5bea-484e-9583-f8f0f8cbb1c9 CLINVAR:254478 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 909cd15f-9ac5-4541-a482-0ed707abe774 CLINVAR:254478 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb72301b-1e7f-41b7-a854-afe30da742fb CLINVAR:548400 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac452ba5-ac7e-471f-b438-d5334cac8a83 CLINVAR:548400 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a369eda1-38d0-48d9-87d8-d8701c647d22 CLINVAR:266890 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6127602-4105-466b-a56e-8a4f256bbc53 CLINVAR:266890 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b56a0cf-e063-4817-9091-8a37aba2cadd CLINVAR:266888 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7fe4e69-3c88-4f0c-a223-843a7d928a48 CLINVAR:266888 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 292d58eb-882a-4528-ad76-5b36aef3763e CLINVAR:548377 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a30d1e61-5a03-4dc2-b4c3-03ddcd8cc26b CLINVAR:548377 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18cf7128-d153-4bf1-a70f-059d6cf5e020 CLINVAR:266891 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98b53fab-5279-489f-9a49-f0441a8793c8 CLINVAR:266891 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 61af7e3f-8e40-404e-b74d-eac39a5024c0 CLINVAR:37993 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d68b1075-9cc8-445e-a0ae-3950b23ecfeb CLINVAR:37993 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f6f531b-76b9-42e1-b8f1-cb2e16767c8a CLINVAR:51922 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbd2d75e-543f-47fe-aaec-b94d87dcbe9a CLINVAR:51922 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf6f417d-b607-4dc6-9849-02ffeb96ffa1 CLINVAR:51926 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 372a9f3f-2205-4b6b-946b-4e1892eb3e7f CLINVAR:51926 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91049fe8-ff8f-43f3-bd40-830931cb2436 CLINVAR:51943 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1e96821-1d17-4866-9390-7d5b7d3523da CLINVAR:51943 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bddd453d-44eb-4e67-a9e4-b4412ca8ad19 CLINVAR:38000 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64bba5c0-a77a-4190-8854-9579ca32d337 CLINVAR:38000 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d4a505a-48e1-4e48-8372-2c80b45ba758 CLINVAR:266900 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fdc37bf-6b24-4980-b5de-852435d6fa33 CLINVAR:266900 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6555c1b0-f087-4bd4-9cba-fffa7b66f632 CLINVAR:254479 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb8adcd1-9ce6-44ee-bb5e-e38f1507397f CLINVAR:254479 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b1635a6-9d1d-42e9-a79f-ec06043e2e8a CLINVAR:266907 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60b96121-261d-4b78-957b-5ba4d31fcab1 CLINVAR:266907 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfbf2ba2-f7af-4c4c-97b3-f60f25e08d6e CLINVAR:266905 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 054e3de1-d81d-402a-9a52-60527c59f67e CLINVAR:266905 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a338e14e-0243-4095-9cd9-51ee692fe327 CLINVAR:185415 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49231fef-61d2-4875-9b01-2a5d1478fc1a CLINVAR:185415 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32018907-22b2-487c-9ea9-3ac7dc8f1fe5 CLINVAR:51974 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7768f862-1c29-4b11-909c-0ed744ff7571 CLINVAR:51974 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b10224e4-1a8c-48b1-97f4-d74dcbeabb86 CLINVAR:52015 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d65c554-a559-4873-9546-281f4a889167 CLINVAR:52015 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d291f960-b133-4990-95a4-3bacff72038e CLINVAR:52014 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a70ec62d-3ae4-4dfa-b51c-31a2d9963cad CLINVAR:52014 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 390dfcf0-bf85-47eb-945f-7b3b8d8ed6a7 CLINVAR:548376 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd6f9071-149e-4574-99c1-b9f0e8184741 CLINVAR:548376 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 928631da-a5cf-4215-85e4-1dcd412ed5ae CLINVAR:266925 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af1c60f2-4b42-4efa-a2b9-80131f8013ec CLINVAR:266925 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ade94292-59aa-4a7b-acce-536d11db6c18 CLINVAR:440433 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48ed1674-229a-4113-9202-3b7d4e7ce31f CLINVAR:440433 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6238780e-31db-4f66-8651-57f8d8cf9d07 CLINVAR:9349 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07e420a7-eee8-4648-bd2d-87b42893c2c1 CLINVAR:9349 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3db40d4-52b8-44c5-bc63-5b372b2a9b10 CLINVAR:52056 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a105c1f-07dd-43c7-a176-9d9120a4dee1 CLINVAR:52056 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 740d7a55-4caf-4e47-8616-d7e5c8935057 CLINVAR:219896 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f45de32f-56d1-450b-8a02-ab707915af57 CLINVAR:219896 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 32855158-4936-4850-8dfa-f92c617db91e CLINVAR:52063 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1700f5d-b6a3-4b35-a943-73915c891b0e CLINVAR:52063 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba030ab2-c6a8-46ba-98c9-57ce46ccfc02 CLINVAR:52060 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c8e7d3d-ad38-4256-a92f-9f0ed4ded1f6 CLINVAR:52060 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b6993c9-9245-4d23-9a99-5659a54cd139 CLINVAR:91445 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7409c2fd-084f-4fad-b8f6-2511762267e8 CLINVAR:91445 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd9ecc4a-96ab-486a-9f85-78d2662eab2b CLINVAR:266948 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a596f98e-a8a8-420c-ad2f-b0e9727de9cb CLINVAR:266948 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel decd4d6d-f9d3-4003-9f8d-400010da6b4c CLINVAR:52121 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86b4185e-e6b0-4ba8-8917-fa2467c0fa1c CLINVAR:52121 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4941e343-7bda-4658-a932-b85febbc98db CLINVAR:9342 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1705e86b-0278-484d-8214-86c1e6a8556f CLINVAR:9342 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b43b02bb-53a8-4fa5-b49a-b32e1ae299e4 CLINVAR:52138 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca0de24e-a7e1-47d1-8f29-8fe2eafbfb17 CLINVAR:52138 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 019de083-0486-44e2-a18a-fb8eae81c65c CLINVAR:266968 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8ef9bcb-7940-4f4f-95fa-65f2685a475e CLINVAR:266968 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 612c7fa3-e245-4237-a532-0e4d7c090b9f CLINVAR:231608 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f08e9c6-5bed-44b9-935d-f3b28901e725 CLINVAR:231608 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b55eaf68-7990-44b8-b71e-4abb424adf42 CLINVAR:182307 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ca7f1e7-8e83-49da-8735-dc7e5fc78a36 CLINVAR:182307 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1a6a0b8-c15d-4262-9a6e-4b185fd8cf55 CLINVAR:52173 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee6bfbd0-3c34-48f3-b989-894d23bae52a CLINVAR:52173 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0a53a07-2fa5-4d6d-832a-21dfc9c89f60 CLINVAR:254480 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ce4e839-3a02-4613-bde0-57f581eeadef CLINVAR:254480 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a3e3f901-00b9-47cc-8785-cc9de73977d2 CLINVAR:254481 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56546591-aa40-49da-9ceb-c20172ba6933 CLINVAR:254481 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b973384-0fda-42a6-8659-00a4a4f80fec CLINVAR:236264 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eadcf9b1-c71b-45cb-a802-c1c9f8141b91 CLINVAR:236264 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee57a7ef-5c07-4edc-83ae-ad5e505b137a CLINVAR:38072 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bcef450-908a-47b1-9a50-8c1e2d8e0ca1 CLINVAR:38072 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 80fe25f3-5b52-4147-9c5a-fb25ab874c51 CLINVAR:266975 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e10ba3e6-2183-4144-af55-531ef2de459d CLINVAR:266975 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 612884fc-2985-479b-8706-865093275cb1 CLINVAR:38079 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55445cf2-a12c-442c-b3d4-229ecab8844b CLINVAR:38079 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2c2967a-cc40-4734-8324-9d90e0cacf6f CLINVAR:52252 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar debe7cd9-e361-4294-8fcd-bff3da10c682 CLINVAR:52252 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ecb3036-a1a7-48dd-9bc5-92f2823a5d08 CLINVAR:266988 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8274fbd6-655e-46c5-96ab-92e488c40c4d CLINVAR:266988 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e916d251-2f49-4730-8622-1c6f70000edd CLINVAR:183182 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c065caa6-60d6-4925-a620-1561b819093a CLINVAR:183182 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9e39664-3131-4a9b-b769-ab7c292e9fa8 CLINVAR:96848 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02e6a178-9881-4f27-9bd4-26d2c76e9e9e CLINVAR:96848 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f14fd36-5a56-4802-bf7d-7a551e35751a CLINVAR:231337 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14a8b290-3ae5-4b6d-a5fb-1659b8325dad CLINVAR:231337 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b727fc8f-643d-4f09-8e7c-2094143ff89c CLINVAR:266995 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8efd612d-637c-4e6f-8e1a-55d13b1fe489 CLINVAR:266995 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24ab28d4-f634-4e76-97d2-0ee0b675125e CLINVAR:266998 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5253eba1-de39-4bb4-a17f-f31fdc8fc05b CLINVAR:266998 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e89281a-2049-4493-bfd1-f6a3bf579050 CLINVAR:548438 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2dfe85e5-807d-4f8c-9274-f3d67a60c276 CLINVAR:548438 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3de8cfe1-6a0c-4ae7-be51-6f9a1644a0f6 CLINVAR:267000 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8c030a5-6041-40aa-8bba-d1ccfbc3376e CLINVAR:267000 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a85529bf-86f0-447b-b137-cf8ae628da7c CLINVAR:52302 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 106f8108-beec-4523-b845-0e3659c503ca CLINVAR:52302 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 757f29e2-5ec9-49bd-af7c-5eb0649c9f68 CLINVAR:266999 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5f7dedc-aff9-4b0a-8c32-f56fe09952ea CLINVAR:266999 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 870b8c0e-e731-4667-a392-d05207224a82 CLINVAR:231052 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2638d44-6e17-4234-ab88-ba7505928886 CLINVAR:231052 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 044e3829-8403-41ae-a29d-0c2fad31574e CLINVAR:267003 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b7891f0-9b1b-49e7-a6d9-a9e7ca431e7d CLINVAR:267003 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a46102d-d2ec-4086-8754-52e3812a6326 CLINVAR:52311 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b335b13-58b1-48dd-aecc-2d6e5f083d46 CLINVAR:52311 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e11ecd5a-20fb-4dbf-acbe-0b8fe5f83d40 CLINVAR:267007 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2dff4d18-1301-4ee2-9619-4f3b359fee20 CLINVAR:267007 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c99f4d1-b28e-4b3e-9a9d-68f0ad6aa557 CLINVAR:548355 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c6879d3-dc6b-4613-b159-058ca6bac5e6 CLINVAR:548355 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75b14f28-7c07-4906-b06f-caaa314f54c7 CLINVAR:267011 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e798d436-f2b1-4a45-9ea7-d1b8bb2346cc CLINVAR:267011 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7c28a30-5179-47b4-a9a2-e6647724adb5 CLINVAR:433756 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2dfd19de-1826-488d-ad77-229775b0b020 CLINVAR:433756 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ddd863f-9d3d-4ef3-bfaf-7b552b43648c CLINVAR:52343 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f81d77fb-d062-4cb1-ad0f-8555c8fe54ba CLINVAR:52343 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 239e876b-2fc9-41f2-86dd-b38e2f1df3f8 CLINVAR:38103 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba7c4a86-1a2b-4165-9e76-9aaffa73b0c8 CLINVAR:38103 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad649fcb-bbc4-44dc-a68c-85e782dc463b CLINVAR:254482 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a415ec2-f06c-4529-85c9-bb73bf5ff26a CLINVAR:254482 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6ce61f9-f5f1-429d-8c1b-856cf89e4555 CLINVAR:52354 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eac1a77a-7560-4d7a-88c7-e5a5170e047d CLINVAR:52354 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92ff22b3-41e0-431e-b29c-afe7bae1e923 CLINVAR:38106 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 143e1c75-be1b-4301-8acc-8d0ea28f23c4 CLINVAR:38106 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f3d2c46-cb25-4f9c-9b59-9d6a5c46abc9 CLINVAR:52357 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1be04478-8376-404e-b45b-6cbc7644d9f6 CLINVAR:52357 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3bbf6852-b4e6-4e03-847c-bb3dfa930fc5 CLINVAR:267023 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2da21ee2-e4d0-44d7-9cde-c8b3a5ebb481 CLINVAR:267023 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd790c22-cbff-4f55-bd5f-cafe42e8b677 CLINVAR:52382 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a983d37e-728c-43ca-810b-015125d712ac CLINVAR:52382 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cec52a44-24d4-49ba-8342-66757fb661bc CLINVAR:267029 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15a6b2a7-a0a0-4778-be5f-41ebfef81c98 CLINVAR:267029 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 752b8c8f-e325-461e-949e-fb7657413cc6 CLINVAR:52383 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 711227be-c05a-4b1c-a481-fb26035c1e3d CLINVAR:52383 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53b42090-1726-48fe-a556-b82d626c14ea CLINVAR:9326 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 331ea352-dbe1-479d-8559-5a73ef55732b CLINVAR:9326 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20eb136e-e22c-43c0-b64a-afa9060f9b49 CLINVAR:52395 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12237627-afb5-4b6e-9be3-dadbb12660e4 CLINVAR:52395 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfc408d4-9546-4bdb-b3e6-187e5128cbc6 CLINVAR:52403 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46e582d7-2510-4613-9d66-d0315de63374 CLINVAR:52403 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6dc41f68-8c7f-4b89-8588-6a8ff7ce0ff9 CLINVAR:188425 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1ce5cad-0a88-49a5-b406-df3fa900692f CLINVAR:188425 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7c0f291-1db5-4824-9f91-cb65122ac6ff CLINVAR:441525 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1180d52b-f973-4053-92c8-2393f053e4f0 CLINVAR:441525 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb513858-e135-47b4-bba2-8dd00917f499 CLINVAR:38119 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df00c22b-d09e-4000-9261-ebf613f09d73 CLINVAR:38119 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71669202-cae7-42f8-9295-c8e55159b284 CLINVAR:52402 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e33eecfd-235b-4c22-8b96-29b9ac19fbbe CLINVAR:52402 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26c2298f-cce9-47d7-a68f-41b33c1e88d7 CLINVAR:162101 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3eaaad94-7fca-46e8-854f-baa6cebd0db8 CLINVAR:162101 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 69adb1fa-80a7-4c3b-a423-095ba42ec77e CLINVAR:267048 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51354801-f898-4019-a18e-d3b3fbff1c3e CLINVAR:267048 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1df7fd9-e25c-4891-a6c2-d52d7551096e CLINVAR:548381 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d62e31d2-8792-49e8-b207-afe044cd1db0 CLINVAR:548381 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 19fef348-9c96-4942-9d83-a9b8dabb7276 CLINVAR:186230 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30a077f9-4d3c-42c5-9ae9-4cf06f8433c6 CLINVAR:186230 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fed92143-5e6c-4c4a-a0ed-2e890fb21f31 CLINVAR:267053 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0cbe20c7-98c4-4106-b03f-b1eb8d630469 CLINVAR:267053 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4dec9a5d-53b5-47f7-bc51-c609c80d0de4 CLINVAR:52505 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afea2549-4c92-4460-a91c-3a83e23932a0 CLINVAR:52505 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff0ea3a2-71e9-429c-8ef5-7c5db785105f CLINVAR:441361 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4dc0e52-74dc-4ff7-b600-54ecb38547eb CLINVAR:441361 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68cffa0d-fb34-4171-b019-4eee15082a75 CLINVAR:52523 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97be7c10-dce0-4a3c-a9b6-d64236530edc CLINVAR:52523 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f224d1e1-15ee-4dd1-a494-1a773b110e24 CLINVAR:52524 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fd0b8ac-2791-4a08-a527-9f48b2f25015 CLINVAR:52524 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 917ae9cb-f869-4b3b-96b5-acaaf9113cb0 CLINVAR:38148 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92318df8-3fae-4f58-9c83-45683b4660b4 CLINVAR:38148 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8e7b0fb-d20e-49d6-8290-8243ab5d6177 CLINVAR:267069 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a46b63b6-ad42-48c0-9990-bae1531ad915 CLINVAR:267069 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03c1f87a-d2a1-41bf-bcda-ddc6482057af CLINVAR:254483 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57a79e43-9649-46b1-bb4a-c46674bc4e70 CLINVAR:254483 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ddffcae-b4e0-4847-98e4-cb0a81baf50a CLINVAR:230949 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fcd4dcb-8bb5-405f-90b1-6407ab6869e8 CLINVAR:230949 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b879fb63-9fc1-457c-9e1e-625d3d39c6c8 CLINVAR:267084 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76a6fbec-5edb-494c-b451-79ab7f42eb8a CLINVAR:267084 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3b512e7-bd9c-4a54-b1d4-cedc6cfb3869 CLINVAR:267087 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 566d180a-e121-4552-889c-72b112f33de0 CLINVAR:267087 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel afb921f1-d1f6-495a-accb-38f29c73fb4a CLINVAR:233409 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ac59bdd-7c81-4fbe-9344-c21f85da3064 CLINVAR:233409 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 850b0b35-5843-4bb9-a5ea-e40b327d5079 CLINVAR:430601 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e23e5b9c-9c25-45ef-8811-b7f4b3193778 CLINVAR:430601 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0aa4b71f-22eb-4f8b-9b82-956c6298e73a CLINVAR:52683 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8812bd3-03b6-4a80-87ba-68ebc354fdfe CLINVAR:52683 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe8bf7ff-6b24-444e-b3ef-a17fe3f3f872 CLINVAR:267110 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbd4a737-87b9-40fd-970f-f30ae435475e CLINVAR:267110 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c8acc581-18b1-4c5b-9184-907f50b73c4d CLINVAR:231782 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e86f554c-6a5a-4d2e-8300-211f5d7a6caf CLINVAR:231782 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ed4d877-22bf-444f-b3fd-4207497e3361 CLINVAR:252404 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a69bb783-673e-402e-af96-f005a071226d CLINVAR:252404 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9bbea475-5f96-4738-9e78-9ee8f0625ff8 CLINVAR:125928 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a6013d9-835d-4b53-942a-6d3918ec9d5b CLINVAR:125928 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c225d38b-682d-4a5f-af5e-aace14a1821d CLINVAR:548346 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07df0cef-c202-4da7-8cf3-480dd192aae2 CLINVAR:548346 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed761441-773b-4e7d-9c36-fcdb5549c9b6 CLINVAR:52719 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0de65b3a-54dd-4ded-b6c0-d40b66543950 CLINVAR:52719 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12e519b0-8e5c-4a14-acd1-a271a62bb657 CLINVAR:409425 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1f702ab-bb96-4670-8db6-9d362b43a2d8 CLINVAR:409425 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 669568cb-e44d-43a9-9918-c536196de209 CLINVAR:52730 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd372b51-2c3e-4bc5-83ec-79e0a48a28e1 CLINVAR:52730 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f97b827-9e29-4a84-ad05-0ba851e42473 CLINVAR:548424 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf2002e2-16a8-44ed-8cc0-639db3291a60 CLINVAR:548424 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b77b8998-3b84-45bb-a7cb-a58b38816c44 CLINVAR:52740 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfd8c69c-5b10-4e70-b8c7-66ba0f3111b2 CLINVAR:52740 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e4b18f2-0e09-4a8b-a60e-25082e9238a6 CLINVAR:267133 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5737c78-a64a-4f15-8479-92b140ef6bd7 CLINVAR:267133 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7661ea2-6fec-4914-99a4-46d95aa26a81 CLINVAR:423221 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f70bad01-3924-4614-9d6b-5948f6f4058c CLINVAR:423221 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b9f3aa7-3c21-4e20-85bc-33401398976f CLINVAR:441491 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f909b025-278b-4c46-9a24-2e23a47ecf67 CLINVAR:441491 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f5e8d93-a176-4874-b43d-056cb2122c2c CLINVAR:52771 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar beddd527-ec95-4cb6-97fa-fa764adb801c CLINVAR:52771 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e065e21b-2ae6-470e-ac61-7fc0a6fa3d18 CLINVAR:267145 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d48b6e0-435e-46d5-9fa8-fa735f4bf994 CLINVAR:267145 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd04ee3b-4a55-4eb3-8578-6581142ac571 CLINVAR:254484 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e33bf22-556b-4fe3-8542-bd8b9d6874c3 CLINVAR:254484 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb5e3919-a512-4329-ba4e-9128250e91ae CLINVAR:441476 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e8d4e46-42db-4318-b4df-e2e30f73e67c CLINVAR:441476 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c67617fe-d8d2-4acc-85d2-8ea53511b536 CLINVAR:254485 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee92feea-1e00-4cea-a0db-1c401ade3213 CLINVAR:254485 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ba8b8a7-338e-4c7e-9f55-4e7f47dab00f CLINVAR:548343 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29398bd4-fc04-4b22-8c3b-07f0befb16bc CLINVAR:548343 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf965cf7-7e74-44fb-ac2f-ce252bb001d4 CLINVAR:267149 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8d3e17b-c61e-487f-8b66-73b2ff880f7f CLINVAR:267149 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb70a2eb-e58d-45ca-b5eb-1781b54d61a3 CLINVAR:52812 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64eca090-6307-4003-9dda-afd16c334265 CLINVAR:52812 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af817fb8-2e5f-401e-a9f2-e7b8cf2a6efb CLINVAR:267164 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfe5a549-1917-4613-943d-f37b8b98a9f3 CLINVAR:267164 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3fb9c571-6226-421b-a1b3-8dcb4e628b34 CLINVAR:52870 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar beab1095-939b-4207-8be3-5c847e79aec9 CLINVAR:52870 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0eb6c634-e4b0-4ce7-b2e5-c3027bf88769 CLINVAR:267167 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f533f1a-b018-48c6-8709-1bbc0fd4f07f CLINVAR:267167 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel edc9a21d-792f-4208-865c-f46a23fd9ca9 CLINVAR:52863 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cdd0b2d-345e-4163-9ab6-74070cab5532 CLINVAR:52863 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf981622-0181-45f3-be62-e100aa6a54bd CLINVAR:409531 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90eb930e-0645-4ba5-8c6e-33f4f0d0471a CLINVAR:409531 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a65f6b64-9330-47e9-8b74-c18dc8e3afc0 CLINVAR:52876 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55d461fa-27b3-4e7e-81cc-f05bd0621576 CLINVAR:52876 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78ea7edd-946f-422e-883d-c30790eba2f9 CLINVAR:267168 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10e08c49-78ce-411b-9c13-92176d72d6f4 CLINVAR:267168 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9a066bc-d0f0-4548-96ac-c42ea7da542c CLINVAR:267169 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29d5636f-4dcb-4228-ba58-3fb6e7be5f05 CLINVAR:267169 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b805ffdb-33bb-49f6-97c6-038227cbdbd4 CLINVAR:267173 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df249657-c465-4ddc-b425-5999abfd6aea CLINVAR:267173 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ee9ee37-54c1-46f2-915d-332c92d1dbe7 CLINVAR:52925 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7c84554-7e87-45e2-8b16-6a15023b7b18 CLINVAR:52925 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e240e6e-b05a-4d1e-bb5c-da71d996d9a0 CLINVAR:52923 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a82014ec-970a-4aae-ab1d-2e89a8b78cca CLINVAR:52923 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff6d6910-aaa0-4e95-b8c0-896099b69a54 CLINVAR:52924 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a61d6731-6a6a-4039-92cc-c3d60ef7ec51 CLINVAR:52924 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52039f18-bb82-411c-8388-ddf4521860c2 CLINVAR:52922 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6493278c-1f42-4e75-8003-26795f557f92 CLINVAR:52922 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d48a2530-5214-42ec-8acc-48d12e1d6d4a CLINVAR:548441 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b601b01-b852-43fd-b36c-b49be7cf0632 CLINVAR:548441 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20ba5149-a64f-436e-aea1-6e77df75e6fa CLINVAR:38267 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc2133ca-29f1-44f1-b19e-84a71955d522 CLINVAR:38267 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 677be2ab-d32c-48ba-a6fb-2431818636b5 CLINVAR:267178 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4de3f7b2-10d4-4e92-849a-b88397e8a786 CLINVAR:267178 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 61db76f1-d69f-41f9-850a-8ababd3684a6 CLINVAR:125931 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40a811db-5b96-4700-96d7-74a899ce4b05 CLINVAR:125931 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb7bc72e-7e9a-4d2b-a187-a665b5845f76 CLINVAR:266601 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26834454-d7c4-498e-b014-396a979549a3 CLINVAR:266601 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c03be886-ffc7-4d7c-b2c0-e26098558e6d CLINVAR:37724 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41b958ae-ece7-4259-bfc9-5fea483d8843 CLINVAR:37724 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9128daed-ba8d-40fe-98a9-b43a0cfed620 CLINVAR:266604 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cbbcb99-3d79-4370-9b7e-273a708b749f CLINVAR:266604 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f281ed02-5881-48a7-9da2-eb78adcd80b5 CLINVAR:37725 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1258c85c-3f13-4c47-9004-f95c465cf227 CLINVAR:37725 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1cb164e-83c3-465d-8812-6b1ef35a004f CLINVAR:254486 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02792616-8ee1-42a5-8fb3-72b8e05557f3 CLINVAR:254486 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0b46709-08cf-4e9f-8471-7c4a40519d34 CLINVAR:252438 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2365111-e38d-437d-a1d1-494f80ed9b36 CLINVAR:252438 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98730d20-cbfc-41d2-ab95-054f3ff46c93 CLINVAR:266605 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7713a9b1-541f-4f22-bcbf-ee20dbb57274 CLINVAR:266605 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9932d00c-894f-4393-8ab4-9e15439d88c4 CLINVAR:266606 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82e1607e-8b16-4175-bb10-a7d9034b1e48 CLINVAR:266606 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe28a3dc-bbbd-484e-9367-676be3580ffe CLINVAR:266607 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 939837b9-7c0c-44b1-b833-ea83cef81cc5 CLINVAR:266607 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbc031af-ba30-4c14-89f3-d899660a6d40 CLINVAR:51061 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f6e2295-45b4-45ed-88d9-d4f3d5cca19e CLINVAR:51061 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7edf962f-f8d8-4483-b548-6079fb1bcc0c CLINVAR:51062 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64f926af-d801-42aa-b37d-5431d1b8dced CLINVAR:51062 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfd412bb-935a-4914-9697-9418ccf90332 CLINVAR:266609 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0111e6e-7e02-475f-a65c-a6d687bc2c85 CLINVAR:266609 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 888bd9d1-64cc-4006-b4ff-72f579b33afe CLINVAR:51064 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a6f1cae-7f30-4aa0-92b4-547392992e31 CLINVAR:51064 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 053c9c1b-6404-4965-839c-03b1ed972ea4 CLINVAR:495429 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9a60e9e-56b6-4976-83a1-4e7b505f4905 CLINVAR:495429 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea62f6b2-a477-43f3-8c94-5c104771a98f CLINVAR:51065 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f549af66-df57-4396-a6cd-0d07b05d053c CLINVAR:51065 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc70b2d0-9294-4901-b5cb-9684078119b1 CLINVAR:51069 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8bf387fc-51d3-42cd-a386-a3fef1065737 CLINVAR:51069 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58ad3825-30b2-4fcf-b614-42bb2c57dab1 CLINVAR:230478 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac343a69-ba6b-4438-a78e-0f4ff9fd5282 CLINVAR:230478 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 95b32675-f97e-4d74-b60b-d111507b63aa CLINVAR:51070 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbb55ec1-0865-426d-b6e5-5b8b86c10db3 CLINVAR:51070 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 818c478a-2e38-4eb0-8212-5491cf5e8a9c CLINVAR:51071 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bea7f36-6f6c-4fbe-b44a-f0f22be5ff4f CLINVAR:51071 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 232c7f91-055e-43e2-8544-688b16ad8748 CLINVAR:51073 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3794a78b-860b-47ea-b892-d302f79e9248 CLINVAR:51073 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13b10fc7-13bd-4f9e-b359-83c35d35c33d CLINVAR:37726 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fafd2dd0-d12b-4321-9ba0-2291e19a85e8 CLINVAR:37726 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f24234e4-68cf-400d-ac17-a9cec089eed0 CLINVAR:254487 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 513503e9-9858-4b11-8e3d-b981f5f5e478 CLINVAR:254487 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4eb570d4-e975-4864-9887-5fa4bc700535 CLINVAR:186223 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43067dba-b0a0-4f4b-bf25-44ced1f1e4e0 CLINVAR:186223 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 867fdb7b-f29d-4386-b912-898ff6c8898b CLINVAR:51075 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 337b8bf4-d1c4-41aa-b242-6e93fc685a5e CLINVAR:51075 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39c754e6-975c-4342-8476-3e5f04a261c6 CLINVAR:441314 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efba5859-76b5-4d85-8225-5aeacd1d9a98 CLINVAR:441314 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5177e324-4210-439f-b94b-88f756d3ae13 CLINVAR:51076 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38e10345-8551-4fa2-9176-c8c24852f6fc CLINVAR:51076 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 94d4e220-486c-4a43-ac98-52a64b8640dc CLINVAR:266612 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75e429e0-bfe5-4f20-a046-23f6fc2bd343 CLINVAR:266612 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa2cf6fa-2c2d-4e4e-8232-30fad9df3b5a CLINVAR:265053 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8778d76e-63ea-4aa7-8352-6fcf6f39306a CLINVAR:265053 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d748a168-dde3-4f85-a6fc-2f74d3ba700b CLINVAR:254488 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14ddc92e-3f85-41a5-8b03-30cf7b8de6f4 CLINVAR:254488 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9baa351-ce9f-4c48-a3db-8c6c480e9cbd CLINVAR:548423 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 967c1210-ae67-42d6-bd25-f0667b55d5b6 CLINVAR:548423 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7039cb4-f614-4fbb-8c90-e64bcc414025 CLINVAR:548442 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 189ef281-9e0c-42ea-bba3-3a486b0735e0 CLINVAR:548442 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4675cf2-a11b-4db3-8678-c58212d17ff9 CLINVAR:266613 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb90dfe7-3be6-45c7-9de0-7e0fca6ef159 CLINVAR:266613 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db1a44e8-05b3-43fb-a858-e534ceeee7b4 CLINVAR:548404 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6086cf9-803f-42c4-a786-f3b419247dfd CLINVAR:548404 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b16aaccc-71ca-4f19-90b7-0bd12045ce36 CLINVAR:51080 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f581d71c-bead-4fea-b14f-9d8e8c1cea03 CLINVAR:51080 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08d2ba39-3192-4e43-8ede-112dbcdc4ee1 CLINVAR:266614 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b517faa7-f249-4ab0-8ec3-d641fe3530ba CLINVAR:266614 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3cbd24fa-b9dc-4deb-b719-1e552414756b CLINVAR:236829 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d704432-3b9b-43e6-bd8d-a0eface7d962 CLINVAR:236829 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 49f0cf67-66d6-432d-a13e-07a1fbc19384 CLINVAR:125936 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1e10bfa-c9bd-491a-86f7-eff3715c67df CLINVAR:125936 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a78e781e-20e3-43b2-adbe-cf28d0e18013 CLINVAR:409454 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4597a1ab-d5ae-4342-9bea-59a4ad14aecf CLINVAR:409454 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2feab76-aed2-4fb0-bc32-30c5c1237fab CLINVAR:266615 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8e19691-ab9e-4a7d-b129-11a8a02cac22 CLINVAR:266615 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8adddaf-2fca-4477-b25a-f12f6cfb031f CLINVAR:51081 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77f87a11-8b74-47a0-821b-44b9d62d14d7 CLINVAR:51081 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b51f0d67-121f-4848-9424-45ebe78c3da0 CLINVAR:37730 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c70f2a7-71d8-4f2c-878a-fed6e9787e34 CLINVAR:37730 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ea3d16e-12d4-4f78-a97f-e7136c52caa2 CLINVAR:420224 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d98b33b-5de2-4162-a32c-355ddea0d108 CLINVAR:420224 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99df8930-2a01-4891-8731-5268d83932d4 CLINVAR:265369 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ebd8aa7-b899-4ba8-a04f-d8f7b6ae29ff CLINVAR:265369 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11f1e21b-1de1-48d0-87db-62831c0468cb CLINVAR:51084 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d31c31d5-1776-4a43-9d44-745b9379b55d CLINVAR:51084 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f0f9426-e261-4963-b36a-4a7434ebbb21 CLINVAR:51087 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b839c54-bd8f-468e-b7c2-029d05af5fd3 CLINVAR:51087 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c78adc9f-5d63-46b7-a38c-fcd262f40fd4 CLINVAR:266616 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 113ce35e-d00b-4321-bb89-64c6da8ecd35 CLINVAR:266616 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 292daf94-f327-4914-b6b3-bdf0d84f0b11 CLINVAR:254489 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc8a84de-843e-4e93-a8c0-78532aced5dd CLINVAR:254489 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aeaf5ef8-d6e0-46b2-b7ca-a2adea5ea992 CLINVAR:125937 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba2a14b4-c307-47bc-b413-48400735a9ef CLINVAR:125937 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02adf931-168d-490e-868a-dc4fbfedb728 CLINVAR:51088 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07e13a2a-fc93-4ff6-b8fb-883a69580353 CLINVAR:51088 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28cda419-fa58-4b2a-b35f-6c135c133d3c CLINVAR:266617 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e35ba66-3219-4e3d-90fd-4962ee26edc2 CLINVAR:266617 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55a8c33b-a079-4269-bd44-23fa78c4b37c CLINVAR:266618 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b15c19cc-3c12-4cfe-ac50-5e905f73deac CLINVAR:266618 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a46aeaff-6f54-47dd-a5c7-8be7188b5bf1 CLINVAR:37731 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa724fb8-7c8b-4321-92c8-ec112a33596f CLINVAR:37731 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10358278-cec7-4317-89e6-5459b07cfa08 CLINVAR:51089 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12a88778-9f34-43da-af52-81237dc44fff CLINVAR:51089 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14f1dcc9-3e17-4edc-a34b-0b99c79170cf CLINVAR:266619 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6a3927d-0818-41c1-a354-3e167105fdfc CLINVAR:266619 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fba93c22-dd99-4872-8780-a748cb3fd70c CLINVAR:37732 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cb8f110-3c81-4c4e-b7e5-b128a5cd7ab4 CLINVAR:37732 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 603e80d4-ed43-43df-8393-b306e9a6e417 CLINVAR:266620 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35ec49de-cdb6-4726-93a9-75f5c07317e2 CLINVAR:266620 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c812246-f7dd-4d20-9e9e-83b243cf6e75 CLINVAR:37733 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8a639ae-dca6-425d-b7d1-04afebf31271 CLINVAR:37733 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b755d6a2-6b71-47d9-9b0d-01916ffb3625 CLINVAR:51092 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0beaa70-3696-421f-8649-b38cd7dd2a96 CLINVAR:51092 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90cc28fd-83e6-43cf-b3e8-e812c04d99f0 CLINVAR:37735 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ef05ed8-4339-4273-94a3-6b492cc3603b CLINVAR:37735 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6653fd6b-2ebd-41e9-86b8-f45b8710cdd8 CLINVAR:51094 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbccc142-dda4-493b-b659-22999ab90003 CLINVAR:51094 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87b485af-961f-446f-889d-660325e6abe9 CLINVAR:266623 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9bdaac2-047b-412b-96c4-e8ab1a8e8604 CLINVAR:266623 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a150edc-b8fa-4c34-a59f-0f68a8424cf3 CLINVAR:266624 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e152026c-5c56-4e6b-96b4-fcde80e75deb CLINVAR:266624 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6190399-a342-41cd-847d-0680c931d916 CLINVAR:266625 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0c454f6-87b9-4a80-a3b2-aff0bc322cbe CLINVAR:266625 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4995cca-3fa4-4e96-87e4-8152e77c782b CLINVAR:254490 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52024938-2140-4ae7-9b30-202305044b85 CLINVAR:254490 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 408e3a0e-e30b-489a-96e8-57986d40c907 CLINVAR:37736 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58ffa462-74fa-4c46-a8b1-b410e9fd222e CLINVAR:37736 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd1f20a3-4579-469c-94c4-330fed9dc155 CLINVAR:266626 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86180a86-4cb5-4556-8009-d318567701fc CLINVAR:266626 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c02d7b86-371e-40f9-9e95-849a1bb5471b CLINVAR:51097 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ebdc4c7b-81bb-4625-91b7-3d938644f5d9 CLINVAR:51097 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca951724-2182-4014-890d-8ccb1937ad61 CLINVAR:37737 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3d81ecd-040f-4ab7-a015-4a6ce71223ce CLINVAR:37737 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3249b6bd-b37d-441d-9034-157f620dc402 CLINVAR:51098 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 540200de-eaf9-40d1-b85d-401ef143f21b CLINVAR:51098 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 082d17c6-9950-47d7-803b-4100185ebe16 CLINVAR:252440 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb1325f9-499b-4e11-aa09-f805496a2b6f CLINVAR:252440 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c112d98-8cd6-4384-bebc-c739f0118ea9 CLINVAR:185130 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd458d09-10fd-40c3-a70f-13fb8a518cc8 CLINVAR:185130 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed6e75fc-cf57-4bdc-b5f4-ddab502308a7 CLINVAR:51099 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7154942-5e4d-4c6f-a9ad-593fe2730f1e CLINVAR:51099 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 932c6676-469b-4dcd-9278-2d66b51a5816 CLINVAR:254491 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95cdd31a-7e94-4b6f-bfcc-c340657f202e CLINVAR:254491 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3369e084-8920-4825-b652-21ce19a1c8a0 CLINVAR:266627 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4da516bc-5d94-4fa2-b580-fc06e476bed6 CLINVAR:266627 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03eba864-af9c-4cf9-9fbe-3ab95535727b CLINVAR:266628 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38bc1233-e661-4d2e-b6d8-1ac522f07bff CLINVAR:266628 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7dadb45-f084-4df2-a085-506460c3dae6 CLINVAR:418992 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d94fc53d-7da4-432c-b485-b0f89e0565d2 CLINVAR:418992 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a89dad4f-cc98-4982-969b-c9d1e28e251e CLINVAR:55789 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adc8ce9d-34be-4f6e-80bf-a81f17849a3a CLINVAR:55789 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0920a26b-03f4-4450-9d33-27c21bc770c4 CLINVAR:55790 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cef9ba3d-b3c6-4ca0-8b25-7625701e5fcd CLINVAR:55790 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71ad7a8e-cb6f-4d94-ac0a-f00ef6772052 CLINVAR:254492 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 269a3c9e-11ac-463d-8748-2cc0d8e37e83 CLINVAR:254492 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87b39565-5c78-410e-8916-b54007bade29 CLINVAR:51102 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 428c2aff-2b7f-40ea-af3d-1a427efb1ba5 CLINVAR:51102 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59512945-a603-4861-b01c-bab2778bcfc6 CLINVAR:225715 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0fc8cde-e873-4a2c-a957-d97f0f039dfb CLINVAR:225715 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8604bacc-d4cd-40eb-9739-947d6fb5efd8 CLINVAR:409439 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c86205b0-0d93-4e53-9672-f6840a5901dc CLINVAR:409439 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93cf3e19-6963-4120-be80-ba2220471697 CLINVAR:431290 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c93a6d30-12ca-4b39-b116-ec3203354576 CLINVAR:431290 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 301139d1-7675-49e4-9e46-53d38551047e CLINVAR:266629 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21e50f97-2036-4a79-968e-d2bc6a05bc8a CLINVAR:266629 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e25d922e-6dc8-4712-bd64-2432f3b64869 CLINVAR:51103 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a47b3d47-2da9-4201-bda5-af327272d5ab CLINVAR:51103 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f388763-f969-4d37-a0ad-07466ad32723 CLINVAR:548329 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 975bb869-5be9-423f-bdf1-9f622ff33052 CLINVAR:548329 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef62960d-288d-451e-9aa3-08bfe105f4ab CLINVAR:125942 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6ad3af5-45b3-473b-83cf-08bac3208d41 CLINVAR:125942 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e5ef9fd-ec7d-4118-af8b-ba46b61affad CLINVAR:51109 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c15f48bc-cad1-4fb5-b4aa-1f07d2cd1958 CLINVAR:51109 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1836663d-3a4d-474f-a4b5-faab350a61a6 CLINVAR:266630 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55ee4354-d1d2-416c-a527-dbbc3ddaa05d CLINVAR:266630 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87800de1-e491-49ed-be52-330d9d482cbf CLINVAR:51110 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b477c7b3-ede0-4db5-bcea-b2d1fab7afbe CLINVAR:51110 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7806d61-684b-44b1-b2e3-842a711bfbed CLINVAR:266631 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c4ea4ac-d8a6-4549-9bad-409ef0c69f61 CLINVAR:266631 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97327d0f-71bd-4294-b3e5-678e014ba268 CLINVAR:266632 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c30542e1-f1ea-46cb-b53d-207d4a8084fc CLINVAR:266632 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d75b7b2e-dc9b-4e68-a93d-8ef92e3fc510 CLINVAR:419547 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c36de87-1d55-41af-89f2-457205a6ffe7 CLINVAR:419547 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03263193-8018-4c26-ab30-d124f47ba487 CLINVAR:440457 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45030202-8395-4326-b9e1-26c7748836b5 CLINVAR:440457 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e95b710b-89a3-4c0e-8fa6-44c4c0c69df4 CLINVAR:51114 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bebd9ef4-d65a-4d08-9bd8-3d7bc0139c62 CLINVAR:51114 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2fa5fd40-bfbc-4eca-b4a7-87f68d0e69b0 CLINVAR:51113 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1b39945-058a-4489-870b-5fbb51f5f940 CLINVAR:51113 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b82b2f09-ff76-46d8-a947-7727c6b3563a CLINVAR:548338 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ae49036-e281-430c-bff2-6dd58e23b668 CLINVAR:548338 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ae3d164-e221-419b-bf1c-ad67b2963b64 CLINVAR:91751 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c65ed35-d14e-4d3d-8a08-f7d750ba66e7 CLINVAR:91751 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d5478f2-eac5-4c39-935b-985f7564ce43 CLINVAR:266633 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 691d7c2f-8500-4888-8d18-3a4ffc59ea84 CLINVAR:266633 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a21013a5-a8c5-43e7-a56d-3002a6f30f89 CLINVAR:51118 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cc2493d-9b7f-4648-9532-911316acd30e CLINVAR:51118 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 865f3c23-4fe4-4b95-a442-bc9340e58921 CLINVAR:51119 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6f20f2a-6555-4f2b-abc3-cea17a9b09ca CLINVAR:51119 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65ed758a-7f06-4864-a643-6265851e497e CLINVAR:125945 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5571887-eaef-4c8e-b0c9-feaeb94f6569 CLINVAR:125945 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c289d4ae-f601-4347-86b0-1479a7f030f3 CLINVAR:51120 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 351e1a70-3bef-4ada-9a92-e8703f9b2234 CLINVAR:51120 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75864e24-9b5d-415f-ade0-a03060ec1a4f CLINVAR:51121 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e67273c2-7448-4575-8915-bbbf16d73eff CLINVAR:51121 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18c05d76-4c30-4686-a41c-6bb0d9a6b4cd CLINVAR:51123 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f6ca010-8b73-49fa-ac9c-ff702ab3d6e0 CLINVAR:51123 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32d6d57f-72f0-4c42-89c2-1296df0ec145 CLINVAR:141510 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 001fccf1-b62a-4ca3-a679-853667391c26 CLINVAR:141510 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3c76a61-2502-4e32-a953-c9e8f90c7abf CLINVAR:440423 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c41bfaf9-77e6-4087-a709-b1e15cc64cba CLINVAR:440423 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7bf52786-76a3-4ffd-87c4-06333751a17b CLINVAR:266634 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c71f7de2-6088-4de0-8570-1b60c807831a CLINVAR:266634 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1eb86ae4-42dc-463a-80cf-1a3b2213db52 CLINVAR:51124 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99cb8927-2259-4b68-9439-df26feb765cb CLINVAR:51124 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dee6a92e-2ea5-438a-b747-a2e656cbdb78 CLINVAR:142646 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08c1c6d9-dfb2-45ff-bedb-21437a19b7a0 CLINVAR:142646 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 975a67e3-5bf9-4c45-be26-4a736c7bc4ea CLINVAR:266635 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b43ebb6f-c556-4ba2-9226-13c7617f1a18 CLINVAR:266635 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 798ad6ea-b98e-4af8-a8e0-2a8001cea2db CLINVAR:51127 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 494ccc96-1b2d-48a2-bef4-92ce202d8605 CLINVAR:51127 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c378ab9b-ff27-4ea0-8eba-85fbfea7da72 CLINVAR:266636 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9747d35b-ea52-4de1-8877-0b2c714db5f1 CLINVAR:266636 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a0ed668-6bc4-4239-82d4-8aa1e5d86532 CLINVAR:266637 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f84abbd-b7f1-4339-84d7-9ca6541fd76e CLINVAR:266637 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8dfc163-5b60-46db-aead-94b50854054f CLINVAR:51128 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3c050a2-4b40-4751-8b6a-e3a1e9be5329 CLINVAR:51128 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99a917e8-5529-44be-84cd-9504d81dc56e CLINVAR:266638 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ecfe3ac-81d9-469c-b574-d2fa89e63547 CLINVAR:266638 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 897b76f9-133d-4995-963a-1d2afdc13d08 CLINVAR:266639 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3daa62ed-d81e-4ca6-be34-46bb18a8bfdb CLINVAR:266639 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 491a57f6-5133-45c1-bf2c-514fc250781a CLINVAR:51134 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0583b61-e226-4e2c-8433-13258f1064a9 CLINVAR:51134 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 644cb762-3b3a-4168-b40d-71e2f778af70 CLINVAR:51135 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ffa7a1f-dbc7-4e96-8247-b8e122a7bbf4 CLINVAR:51135 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0e9a76c-3351-4e6a-8b40-bf61f23e2af1 CLINVAR:266640 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02e6da3a-1fa8-4e1f-9e02-1b264b28c439 CLINVAR:266640 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 127d9ae1-43ef-4498-b850-a1c42d6be8be CLINVAR:266641 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af3e01a6-7ee6-4d66-9321-7ba466cab4bc CLINVAR:266641 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b616273f-7ec4-4193-ad71-cae2ae5bf159 CLINVAR:254493 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40d27a9f-986d-4eae-ac9a-b96267e03d09 CLINVAR:254493 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c467d115-47fd-4cb6-8ec2-fef115b18c58 CLINVAR:51136 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9eae19bc-1a1e-4e14-8944-8ff08dbeff7c CLINVAR:51136 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 315f5322-a650-4bc2-930b-bab06e886a50 CLINVAR:51137 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83940225-ce39-459d-bf38-d2345de361d4 CLINVAR:51137 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fae5f7dd-2ced-470f-b5de-f86ec49c7dc0 CLINVAR:266642 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5885f22a-2859-4eea-84db-7ae2fc5e3fad CLINVAR:266642 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f671213-0937-47c5-ac08-abe642cb93bc CLINVAR:51139 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31d2c94d-c95b-4f54-8109-98e9524c73f4 CLINVAR:51139 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 368e2273-9d6f-4e05-bca8-8068b3b94500 CLINVAR:441358 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df4f0efe-506f-4daf-8f7f-9e3e747ec2bb CLINVAR:441358 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54ecb581-9f84-46ed-ad48-881ff2e7a70f CLINVAR:266643 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3402e58-8cb7-4732-9b52-f282b808b411 CLINVAR:266643 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bfebdcd4-f548-4192-bc82-7c0e66088d5c CLINVAR:51140 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b7d4f2f-b1ba-4bdc-bf72-1c5b6950ae1b CLINVAR:51140 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3272c92a-2303-4d94-bcec-0cbca7e04e58 CLINVAR:125948 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a4486ec-c82b-4ed6-9eab-a1b81e0e7e78 CLINVAR:125948 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7841018a-af55-498b-902e-188f0a9898bf CLINVAR:51141 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d51474f6-22e0-4e19-9303-4702ff0116ac CLINVAR:51141 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0406c3a-b105-4d04-a97b-86b6bfd248e3 CLINVAR:548328 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b1f6009-44b4-4d5e-94f0-481bc9648678 CLINVAR:548328 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aad7b7e9-deaa-4ee9-9e98-51df885fc26b CLINVAR:185180 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06c10958-1c59-4413-b006-8f5e9cac3c78 CLINVAR:185180 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f64d883-0570-4c3c-81dc-1f160a1754ee CLINVAR:266644 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eac48180-5bca-47f8-94bb-8a412268e158 CLINVAR:266644 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c9451bd-fac4-49e9-b187-2e9cc2e902c5 CLINVAR:216852 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d7cc1fd-40ce-4f8f-a190-9d54ae4a4731 CLINVAR:216852 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cbecfbde-2fc7-4b4f-9755-fe4a872c49be CLINVAR:51145 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19d0b18f-5486-451e-ba4c-92e4ecb1cddc CLINVAR:51145 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0fe4f2a-b0bb-4044-9e1e-f3768a289f33 CLINVAR:548345 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 406eff8d-5175-4053-b05b-07dedbda3fee CLINVAR:548345 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65c3ed32-c45a-4f38-b89a-be8cf97fc5af CLINVAR:266645 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dca94022-025b-4f4d-8870-bb8b58b50183 CLINVAR:266645 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89092351-8563-4fd8-8d8b-c8b0e2eb0e07 CLINVAR:266646 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01a5c342-ece2-4fad-b93b-035f3709727c CLINVAR:266646 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a35b9bef-3f0f-4983-90ba-192ea432962b CLINVAR:37748 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8174e5ca-43e7-43a7-b66b-05c11f86cd7f CLINVAR:37748 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d37bb578-6fbd-4875-b768-8d099aac4bc1 CLINVAR:252441 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b42b434-7c9f-4b4d-94f4-cfc65ba6e09b CLINVAR:252441 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d63177b-f36f-4c45-99a7-689818b13b8d CLINVAR:266647 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0650c41c-e8b9-4246-bade-9d4310a88f34 CLINVAR:266647 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0a4ee6c-1468-4c2e-a5fa-9fb126be74ea CLINVAR:51149 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc43c0c1-ade2-4bb7-82c3-07fcd9e53b3d CLINVAR:51149 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5884ae20-4350-4271-ac7c-68024f2f38c6 CLINVAR:51152 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7e8679e-f377-4a8e-b52d-c740a952bea1 CLINVAR:51152 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cbf4e334-f1d6-428f-b9ff-8d89000db968 CLINVAR:51151 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d208c976-fe0b-4438-9419-bbd0670b84f3 CLINVAR:51151 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a36ad3b-6907-4f17-aa85-1d94c0c63b91 CLINVAR:51150 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca717a18-8dbd-482b-8ea6-53606421343c CLINVAR:51150 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b60b26a-9a15-467a-be90-e0c5e12952d2 CLINVAR:51154 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f7654bc-660f-47be-90ad-a748b5946d91 CLINVAR:51154 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 920c5e5c-7905-4685-b67f-9f52f71a8140 CLINVAR:125949 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2815687e-b39a-4e1c-8087-9515ec5a7148 CLINVAR:125949 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 289f492e-ae31-46f4-ac08-b68d4490ee02 CLINVAR:51155 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37555954-675d-4843-95cc-3af3aec3e77a CLINVAR:51155 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7cc47ebd-e6d4-444d-866a-11083dffe643 CLINVAR:51156 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7802d3a-0ded-474d-b63a-a3b7fe99a950 CLINVAR:51156 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ac4caed-4fc1-46b7-be92-6bf3af0aa25c CLINVAR:266648 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dce53127-39dc-41c0-8669-8056db72371c CLINVAR:266648 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c38f0fc-d0ca-4921-b436-59801989abb7 CLINVAR:51161 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28bec93a-2966-46c4-af40-510a7e1236ed CLINVAR:51161 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 84a0bbef-98a8-4f6e-ba56-7ab42d6a2225 CLINVAR:51162 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58a75fe1-7eef-4696-80d3-fe1c94bce9c1 CLINVAR:51162 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 249c20ef-822f-4422-81e1-7976e52a321c CLINVAR:91754 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a81f35d-9b27-45ba-b934-da22028a8306 CLINVAR:91754 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9305edad-531a-4972-9ef4-adb439af50c2 CLINVAR:51165 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c48eedff-7b00-4149-8566-736ebc5b3139 CLINVAR:51165 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 61766910-a956-4b43-9abc-686926b83f49 CLINVAR:125951 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5bc2e36-126d-4bcc-92e9-10cd718aeb8c CLINVAR:125951 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ed56d82-3188-4dd2-9d75-1ce5ce465ee1 CLINVAR:51168 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar acabd9be-945b-4c30-bbf1-f463716e5e90 CLINVAR:51168 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa13ef7d-03ee-456b-8d01-bc0dfc35c4c6 CLINVAR:431293 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 683d4640-8335-4b8d-9b1b-eb567d4c9b02 CLINVAR:431293 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6d379ce-001d-4b8d-8edc-4ec70c305e47 CLINVAR:252812 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddb9e550-c294-4f69-82ef-23d4f41e84dc CLINVAR:252812 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ca8908b-e7a5-42b1-aba7-5df334f35a3c CLINVAR:266649 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a88ab9e0-ebc1-4ced-8e2c-07721cda79fc CLINVAR:266649 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 943116ea-0341-446c-ad46-764e34f33e2a CLINVAR:266650 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 438422b0-2cb4-4a31-9d8e-3a5c0683c68b CLINVAR:266650 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f6d2403-34e4-494b-ba0d-fec05845b399 CLINVAR:266651 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e854faf-f6e7-4185-abac-4a91dd813863 CLINVAR:266651 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff2c7b9b-f763-4a6a-baf0-851dca1b3788 CLINVAR:51171 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7721168f-66a3-4fb2-88c0-d96b93b54405 CLINVAR:51171 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 917f163f-ec4b-4697-ba21-c7a511e9772f CLINVAR:51170 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75f377d6-79b1-4aac-a37a-ffabfb98c470 CLINVAR:51170 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60d47540-9045-4478-b649-b743e5a72a95 CLINVAR:51172 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8af32a3-3c8f-42bb-ac11-2a13712a8da2 CLINVAR:51172 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3140dcab-c200-41d9-9316-b05f927f6b60 CLINVAR:266652 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43179790-727e-4aa3-a2bf-e75745cae808 CLINVAR:266652 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34e19209-be54-4598-8ae1-3cb89da40fb0 CLINVAR:51174 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e74bee5-f5f9-4516-b10a-36a4e84fcb06 CLINVAR:51174 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1b3ea53-6e9a-477e-9b62-dd3e80f56100 CLINVAR:231646 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08b301de-3a28-4639-a7ed-4a4df97d2191 CLINVAR:231646 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35a83665-257f-4791-9b25-3e788800e637 CLINVAR:266653 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4eddc145-d3c4-4499-8959-decf4505285f CLINVAR:266653 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44617092-d8ba-4f2d-b8fd-7cd3857ec438 CLINVAR:51175 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f3fc385-0679-485a-b413-cf454c53c3af CLINVAR:51175 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e165a66a-64c3-4928-a15c-235d7dae8f58 CLINVAR:441479 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ceaa7486-4bfc-4004-be5b-bcbf8e5e8525 CLINVAR:441479 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b83029eb-b37c-4dfd-98b5-10f0d10c913c CLINVAR:266654 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b74f1ae6-4b27-4113-b85d-3c366984f261 CLINVAR:266654 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 920570b7-4e45-4188-a460-505c772ebe19 CLINVAR:548436 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d586a095-c1fa-48b0-8ae6-d3b02b6c0a7f CLINVAR:548436 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56a135e4-2e15-4f47-b5da-6a755432ab15 CLINVAR:254494 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11fb82a8-465b-432e-b18f-0354a3dfba62 CLINVAR:254494 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c143246e-349a-4a3e-b5c8-e3a582c1fe06 CLINVAR:51176 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad4b31bb-ad41-454e-b38b-b8007b685fdc CLINVAR:51176 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3623b5f5-ab4a-4fb5-82f7-c0acb945ba47 CLINVAR:266655 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7eed37f-70d0-4485-8774-5d94114ed8c4 CLINVAR:266655 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0197a68b-a7b6-4e8e-82c2-bcd3cf181904 CLINVAR:51178 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eceb803b-a42e-4e50-8fe7-d5dae4904776 CLINVAR:51178 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1fcf72b-cc71-4e16-a2d5-abdc3edcfcf6 CLINVAR:252442 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2248dd19-d642-44c4-84ab-109617334154 CLINVAR:252442 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ff646be-63db-4443-8382-41d03ed00dd2 CLINVAR:266656 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02eb4e6d-760d-4d5a-84d0-6f9937335941 CLINVAR:266656 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel adf03f2b-c534-4bdd-95b3-759ecb873344 CLINVAR:51183 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9713948b-f5c7-4bd0-90f5-0c3f503b52b0 CLINVAR:51183 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a486df6-a636-4eb6-ab17-073fa98c34f7 CLINVAR:51182 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a17e691d-ca9d-4f81-b044-e4cca9d78094 CLINVAR:51182 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91903ecc-f2e4-4c63-b213-dc0515be159c CLINVAR:51184 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99e4363e-35c0-4f90-a163-5f507d73b9a0 CLINVAR:51184 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5c860ef-5624-4535-a406-28936a1e41a0 CLINVAR:37754 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 060204b2-3a9f-4a76-b351-798059b154f9 CLINVAR:37754 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 611b6c4f-dd6f-4967-b1e1-f78f80e033f9 CLINVAR:231643 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 384798f7-64a9-4905-9cb1-15eca809cffd CLINVAR:231643 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34af11e6-c32e-4da3-9540-8942aedf1418 CLINVAR:548389 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 138ac152-87a3-4356-8407-182827875c94 CLINVAR:548389 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f1efef4-69f1-43ce-a36b-ee03a33ea0a3 CLINVAR:51187 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 599af09c-2851-425f-b951-0315ab1f0c45 CLINVAR:51187 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7730bb7a-6260-4291-b22e-edf76a58d632 CLINVAR:266657 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0ab2da9-7b89-40e3-965f-f3606ee17ebf CLINVAR:266657 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b00bc871-89f8-4d04-8de2-02ce65d931fa CLINVAR:51188 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cbb7d350-cd10-45d8-a5ba-d02d5b37ff5a CLINVAR:51188 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 796fd147-f7d1-46e0-ab15-6d105e686500 CLINVAR:51190 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba61db20-4fe1-4e7c-95e5-61cb13bf04e4 CLINVAR:51190 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efa52491-9a2c-4965-bd72-55c03d202c27 CLINVAR:266658 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b802a737-188f-4ca4-9914-16cfd4024657 CLINVAR:266658 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 94495b8e-3328-497e-b21a-4e242da76825 CLINVAR:266659 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e38f2af-0d59-488d-aa73-f35155673976 CLINVAR:266659 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97a2f53a-bc12-47be-b004-91a35c4c46ef CLINVAR:409463 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c30e02c8-ca0e-4656-9134-49504a37d254 CLINVAR:409463 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75ab14a7-ffe0-43b3-86b7-fbf39443f6e3 CLINVAR:51194 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55d24e4f-b7cf-4071-bbfb-1f5b7051a5ad CLINVAR:51194 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5d350f1-60c9-46e8-ba58-a51be507cc7a CLINVAR:266660 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb5b92ed-c593-40d7-a17c-e67a2c6f0041 CLINVAR:266660 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef2d202f-2cc4-4958-a1e6-3b44a4cbef23 CLINVAR:37756 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52a5a81d-4f6e-4c7e-b30b-3e839a771983 CLINVAR:37756 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25cf9133-2e1e-42eb-bdd2-3f425ba0ee0f CLINVAR:51196 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91c951c3-445d-4d5f-a040-16b140b01ae2 CLINVAR:51196 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c458282-e9bb-4559-b76f-56a54d53ed18 CLINVAR:431295 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01f48129-868b-4f0f-ae29-5e97efed5a01 CLINVAR:431295 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bcd0e9b3-37a7-474d-9346-8cfbca362cd8 CLINVAR:266661 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74ba631c-8d47-4106-a5c8-9aa860dfe68b CLINVAR:266661 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7370408-ef29-4974-a5b6-b91b25c1f745 CLINVAR:37759 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6dea95b2-0311-4d3a-a977-7c09fd6646ec CLINVAR:37759 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65ad9736-4d1c-492c-8bef-03de92df1c69 CLINVAR:51199 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aaf67e4a-ced8-4580-910c-d0f6ea6ccb04 CLINVAR:51199 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97bce607-f3fe-4c97-903b-3a52fb6a2665 CLINVAR:51201 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5345705a-e82a-40d7-98d6-1e28594e72e5 CLINVAR:51201 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0be5d316-f8f1-47bf-81c7-5fb0d161cd0a CLINVAR:37762 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f42fb26f-42b8-497d-b148-58c127fa4306 CLINVAR:37762 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2aee15b7-dbd2-48f2-8d18-6e06f11c98ce CLINVAR:37763 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db9d2204-5d86-49a0-a182-d8e7fae6bf4e CLINVAR:37763 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7f5a13c-ee6d-4e29-baea-3d94bc206266 CLINVAR:266662 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5dd29714-a188-4284-a592-640c97493d54 CLINVAR:266662 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72e82bcd-1a9b-4d08-9ae4-5646da66450f CLINVAR:548372 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1ce5973-4e0f-460c-9455-b13751fd6399 CLINVAR:548372 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 014263c8-ab54-473b-8f0b-76a41a86fa5f CLINVAR:51204 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d3e2b63-7cab-40d4-9d7c-35c428c6e1cd CLINVAR:51204 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 295726da-7e95-4811-aede-3b289adfc29c CLINVAR:252443 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11c37999-f4af-442e-b718-eb481d069546 CLINVAR:252443 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c91a65b8-6e93-44c4-b5ed-2dbdafc085f8 CLINVAR:91760 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbe6ddef-4148-47ac-8bf3-7e9f3406df6e CLINVAR:91760 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1dd8c66-8294-4154-aa8a-573658518b0a CLINVAR:51209 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2fa7278-e709-493d-a27e-5ab5b3b5acce CLINVAR:51209 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4813572-3114-4c9d-ac2d-ae789c4d2a5f CLINVAR:51211 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da460a7b-1ec6-4019-805d-123aa4c43293 CLINVAR:51211 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2b9edb9-db30-4ec2-9a08-74a5832a9d29 CLINVAR:419477 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a39005e-0c3f-4ca8-9207-0b8d6fef28c1 CLINVAR:419477 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9debd28b-c42a-4856-8f77-0d17023d303d CLINVAR:37764 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a90694c-ed40-4916-bc09-84a1bcdb21bc CLINVAR:37764 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 19250270-d343-4754-a990-874e5b50d6df CLINVAR:228323 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 219cbc6a-c029-4ff8-90a1-5266a357358a CLINVAR:228323 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d1f1cab-d267-489c-bff2-fd1c7a64a71f CLINVAR:422894 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1253da07-5d12-44b1-b230-7cadc96a1c21 CLINVAR:422894 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6be52c5f-3354-4caf-aec8-c0fec52b51ee CLINVAR:266663 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 347233b6-6962-421a-8ddc-2e22f1e69fb8 CLINVAR:266663 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83ae52d0-ba8b-408e-80c9-c705cd32370c CLINVAR:51212 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2cb41bb-9182-45f6-aff8-9d125ab4a0a7 CLINVAR:51212 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81ebf1ee-d49c-4725-84b2-2d9897e7001b CLINVAR:266664 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf33d5e1-5eb5-4b02-9879-13790c1bbc44 CLINVAR:266664 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79e8a152-fd35-4816-951f-c4407600ead7 CLINVAR:37765 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4c0efc9-b4b7-43eb-a71f-9c377aa9f48f CLINVAR:37765 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0f20633-4755-4f7c-b07a-26912d6b32d8 CLINVAR:51213 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d462578-eae8-4905-904f-e63fcff93855 CLINVAR:51213 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c8721be-9eae-416f-9652-017de3ae2cb7 CLINVAR:37766 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 615e348e-cd74-4138-8e82-d93fb65e02a5 CLINVAR:37766 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 715cb7a1-0ce1-4101-81ee-740f0cd3b606 CLINVAR:51217 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81ae2434-7b66-4d55-8c29-e2179314e1ca CLINVAR:51217 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7f0f9c5-5c03-4585-9f45-7612cc0595df CLINVAR:186184 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 353787f2-22af-463b-b2a5-382385737870 CLINVAR:186184 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e19bf1f-61a3-460c-8cc8-20906ff221a7 CLINVAR:548431 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b725b5a-408c-43b9-ba32-65882020b93b CLINVAR:548431 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8454b679-b616-467b-8ba2-2dbd2d4bd8b7 CLINVAR:51215 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4508fb3d-722a-419f-875c-5c324fdfd923 CLINVAR:51215 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e64de541-c4a9-4c16-92cb-ad744ae10874 CLINVAR:125970 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba458061-41de-4aba-b626-fc35876d200e CLINVAR:125970 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 485283fb-a390-4edd-b7dc-2efdb4f0dffa CLINVAR:51216 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96bf4119-a2ca-4b10-85dc-cb9b8edbca0b CLINVAR:51216 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b01972c7-996e-4bbf-90bd-ce99c617cb56 CLINVAR:51219 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a1b9b48-5d00-40fc-a67e-c90a8651373e CLINVAR:51219 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c635129e-7cf9-4367-ab23-3bfe73519254 CLINVAR:438956 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8be28eae-6beb-4002-9bf8-16d423a17122 CLINVAR:438956 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel febbe474-9875-4aca-a125-ad4e65a59f8f CLINVAR:51220 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eeff1f56-38a8-4e89-8330-7bbf8b713f81 CLINVAR:51220 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d526243a-878b-4ac7-b762-a621569eb5d9 CLINVAR:266665 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7748d777-cadb-4505-ae9f-0e69ae0d36ec CLINVAR:266665 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f290c186-b639-4e86-b137-a57cb2bd0ec5 CLINVAR:433763 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 926a7ee7-e5e2-433a-9b26-a2ffdb660838 CLINVAR:433763 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c8870a7-ba02-40a0-b416-8676f413e0c6 CLINVAR:266666 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc4812a2-a8c0-44ab-9aff-6b94dbc524be CLINVAR:266666 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2d09aca-284e-4f2e-9399-8bf68db188d6 CLINVAR:51221 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2544cbb4-a901-4cac-b3bc-9f8634b5c8da CLINVAR:51221 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3269902b-b142-491a-a94e-0456938e7e09 CLINVAR:51222 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8e39968-c516-4fc9-b41e-d590f1e9d0e9 CLINVAR:51222 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 233c2bc9-1928-47b8-b64b-bf22455368d0 CLINVAR:266667 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c75471f-7f4b-4cd2-864e-f93e180f5972 CLINVAR:266667 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0d85ff3-5783-4c95-9fd4-16cea31cf364 CLINVAR:51223 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e19f68f1-3f24-4caf-ae34-33211ccbfa5e CLINVAR:51223 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62629731-bbd5-4548-8cf6-37bce24f229d CLINVAR:236277 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b8df204-01a9-4fb8-8a01-842c71defe73 CLINVAR:236277 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a53de2eb-e384-4b91-becb-68b345659102 CLINVAR:440428 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8f4c989-fbb3-4747-a66e-82afb171da3e CLINVAR:440428 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f56de1ea-5b49-48ac-8c4d-a7929cc3c23f CLINVAR:96772 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 291971bb-ae4c-4c99-8684-99c1f5cfac3c CLINVAR:96772 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34b42224-9081-4250-b51a-8a381f73b928 CLINVAR:266668 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f76985a1-71c1-48d6-8d35-5397dd14c9f7 CLINVAR:266668 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d0298c1-6578-4e3e-9cfc-41af14b4f800 CLINVAR:548333 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90db2693-0b5a-4e76-b363-b890588eabb5 CLINVAR:548333 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbe80676-471e-4e16-97d7-7ddaa0ac7115 CLINVAR:266669 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb7a315d-afd4-46b5-862c-083baf71ba8f CLINVAR:266669 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 73cb8480-bdf1-4bbd-bd18-c2a143b2c264 CLINVAR:37769 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60bfb5cd-8b00-4cf5-b3a2-813b6809a527 CLINVAR:37769 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8322d621-fa9e-4cf8-9f6e-adedab3033e3 CLINVAR:51229 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 570a1586-733b-4cb8-b863-85c778537835 CLINVAR:51229 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2bc49d8b-4c57-49b5-85f6-4649aecbcedc CLINVAR:230600 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f30ef477-d07b-4a71-8688-7600f3f88fa2 CLINVAR:230600 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a3e17b7-d555-4052-a309-79789b8174bf CLINVAR:266670 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b5e9072-f6ab-4b4c-80c2-749d440f25ec CLINVAR:266670 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1c74f63-b830-4162-8b42-1b5c72995360 CLINVAR:91764 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1eabe1e0-bf7e-46c8-9f1c-95a0e8b93bc6 CLINVAR:91764 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14b11e82-7071-4a20-a995-f234f295d9b2 CLINVAR:187587 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 296ed59d-91dd-4acb-9978-d62b21f785ab CLINVAR:187587 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f219175-17de-46b9-918c-22e768aedc46 CLINVAR:545772 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf2d4b39-4141-4128-955e-ef4dbf60c532 CLINVAR:545772 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c661485b-6ed2-4aa7-abbf-403653cacf1f CLINVAR:37771 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 147a5c7c-a60b-453d-ae41-f904110963d6 CLINVAR:37771 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff6ab3e8-6bc1-4a06-83f8-26b0c4e5668c CLINVAR:266671 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aea73c70-4817-43ef-9991-509758f311d4 CLINVAR:266671 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9aedfac-4cab-46fd-bf7e-b9f6ab301e1b CLINVAR:409532 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 372c8811-1a3a-4b4d-a9eb-7dd9481de98d CLINVAR:409532 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9dd3131a-0988-4dcf-9257-a409e7604795 CLINVAR:254495 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e48e856-acc1-4daf-9060-5d2843d17fd4 CLINVAR:254495 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d3e001b-a067-493a-a7c7-001fb2a7de88 CLINVAR:266673 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf117d47-0e09-4d8a-94dc-6ce6d2bcbf5b CLINVAR:266673 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 041c4dd8-11a1-45cf-9897-c18a0d79ee79 CLINVAR:91766 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79f68ce2-3055-41ca-855f-65baf2e65420 CLINVAR:91766 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7a492d1-1f8a-403b-b5a2-0d54f4e78853 CLINVAR:266674 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98000ae9-2e19-4828-8e98-438ddb6d82a1 CLINVAR:266674 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2206952e-0a0e-49be-bb41-32d861db5e3a CLINVAR:51237 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17938399-20fb-4bd6-982f-2e27af7b1c63 CLINVAR:51237 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e158bdf-5c9d-43b8-badd-81d7f805d693 CLINVAR:252815 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3771332-ecf0-4ebe-b1d0-96052c3d31e2 CLINVAR:252815 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 378d1b37-7375-4166-9ec1-b8ebee148aa4 CLINVAR:37773 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b329995a-2744-44c7-9d34-8271178ddf67 CLINVAR:37773 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 741fd69c-1610-4f54-8605-53f49b0c82b4 CLINVAR:246150 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1caa9b39-9767-489f-bb28-3ef223882359 CLINVAR:246150 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f31f1007-29d8-4ff8-bafa-3233c3da2ac1 CLINVAR:51238 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f4eb9b8-0a60-451e-949d-45e9cac593ea CLINVAR:51238 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d0c8d91-20db-4be8-bfa0-26b61efc0c15 CLINVAR:431296 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5481a6d-b5bb-4c1c-b41b-77de9e8e62a1 CLINVAR:431296 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09b025be-7475-4ec0-81b4-5080cb75ac75 CLINVAR:142868 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3836ed95-573d-4983-a46d-d3df684ec547 CLINVAR:142868 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe21a087-b44b-4d9e-8a01-2879eb54f83f CLINVAR:51240 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adaca8c2-bc22-4078-bb7a-89b5b875e9b1 CLINVAR:51240 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9587039c-e320-4908-847c-16c6c676aa49 CLINVAR:254496 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba5edb1a-76f8-4085-a210-b3163e1c4944 CLINVAR:254496 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9da6324-d6a4-4124-842f-8a68bedd242e CLINVAR:96776 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6931f987-111d-4c65-b1f3-54cacc0614af CLINVAR:96776 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f8195e10-0814-446e-83d0-0f464b7cf4dd CLINVAR:266675 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38ac7039-ec4b-4038-97bd-1182b8c8e9e7 CLINVAR:266675 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fea171d5-94a7-43f4-a2af-ae83f12cfc38 CLINVAR:37774 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a3eeb19-7b0a-42c4-92df-51d950147a04 CLINVAR:37774 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel edf3e0db-7a68-4004-b958-d0e95aa7ce75 CLINVAR:51242 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23f3fdeb-dcd3-45f1-b0b4-b3d85d5040fe CLINVAR:51242 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce09f777-dbc9-4e54-bb06-395b8e41124e CLINVAR:266676 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d3d0085-7599-483d-99bd-e860d37a08cb CLINVAR:266676 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2567d9be-9e58-46b7-85bf-c193cdf6d7de CLINVAR:236835 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dd44540-1d0a-49a0-9721-250258a82f71 CLINVAR:236835 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7af97057-1af5-400a-a701-79e0626067f5 CLINVAR:51244 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de898dcc-d8e5-49fb-a517-9230baf8e716 CLINVAR:51244 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f84cd044-b544-4010-8050-d3a52ec61dde CLINVAR:266677 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7363ef4-5898-45a6-a7af-2fdef5869483 CLINVAR:266677 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de675280-0802-464f-8e2f-94f80861e08b CLINVAR:252816 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 200d8ff8-eda0-4de8-8c10-406240407100 CLINVAR:252816 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8419af5-b0b2-4636-a9da-32acf2b55f33 CLINVAR:266678 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bf07e86-2724-4690-8257-b080a79be26d CLINVAR:266678 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31ac4b29-118a-4d06-8916-7d4266d75037 CLINVAR:548419 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4649d2b3-0b61-4391-84e0-f702f934026c CLINVAR:548419 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bbd76f7b-7342-4c06-b011-7624e5e40180 CLINVAR:266680 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a5cf7a8-e385-4e50-8a74-e94538025ee6 CLINVAR:266680 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c569859b-0593-4529-ba54-43183087a5e7 CLINVAR:266681 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4665e4d5-bde4-4863-9e23-1942170bb393 CLINVAR:266681 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e04c3252-cca8-4254-8403-84453b703679 CLINVAR:236836 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12e12acf-f640-45a8-b2df-fea631a0fae4 CLINVAR:236836 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90edcf3b-3509-4f11-bc40-2fe9d19110a6 CLINVAR:51250 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58e1ca4b-23a6-4825-8dad-dd7789f01564 CLINVAR:51250 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce515273-b74c-465a-b47e-afd1da31f79d CLINVAR:233600 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 655b1fab-9b38-41b4-aadf-e3f16f3faa15 CLINVAR:233600 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc5bb90b-d789-4ef6-aac0-750aed55cac1 CLINVAR:440427 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e393c8bd-c961-4cb3-bcd4-527028fee9b2 CLINVAR:440427 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9bf1d5c1-5f5d-4e34-a3f6-21e3345a0fa5 CLINVAR:37776 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe3d40dc-6f32-42ae-8e0f-cc234dc6248c CLINVAR:37776 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bef1dbdf-d144-4a1e-9bae-653ad11b0448 CLINVAR:419078 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fb9d7d5-c319-435d-8b4e-7d4736290a3c CLINVAR:419078 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97f60192-4131-4c90-8a25-b32b73eeb4c4 CLINVAR:266682 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 803b0d1d-d03d-454b-8b08-1996da5d4022 CLINVAR:266682 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ccdced7-4b6d-4b34-a468-ad4c0dd0c8fe CLINVAR:548379 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca4bf2d8-d7a6-485a-956c-9c65f13e03ce CLINVAR:548379 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 760cfb58-c39f-44c3-9cdb-8369c0a7da40 CLINVAR:266683 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4b35a26-8a73-4a83-8a41-c3882c95c9de CLINVAR:266683 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a49a32f7-32e2-4399-a54e-a0a01c0deeac CLINVAR:266684 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 098dd399-3c5d-4afe-aeeb-3e1c6c70c16f CLINVAR:266684 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f134de4c-a5b2-4ac8-a653-9c47e0a44bb9 CLINVAR:266686 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff35cc4f-7d15-4bc3-a85e-d0b86a4868fc CLINVAR:266686 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f62b205d-c33a-4861-b749-a42bfa6f1559 CLINVAR:266685 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7a1fddf-457b-435b-95da-4601bffb469f CLINVAR:266685 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d522aa1-d97d-4f8b-9406-9fbf37af5f0c CLINVAR:125978 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 567aa847-ac40-4df6-9b34-f10645c8b47b CLINVAR:125978 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5aea8e9-f43f-4bf5-b932-46f8e4918717 CLINVAR:91771 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf83b66e-a925-4e05-89e8-e5b5ce6ee1e3 CLINVAR:91771 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c447147-7114-4cd3-84f0-ab6fb236115a CLINVAR:51257 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d9bcbac-51c1-4f87-945f-f54efb40086d CLINVAR:51257 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bacfc0a5-54fa-4a3d-ba86-accfc64b3efa CLINVAR:254497 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f5470a4-ec64-44c0-9795-c34110dd8ddd CLINVAR:254497 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3cdaa1af-9aa5-45c0-9e59-e799b9102c7f CLINVAR:233389 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bc5218d-f13f-4aca-b167-3579395a5c1c CLINVAR:233389 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39e5923b-39a6-4fdd-aa4b-256fcf996845 CLINVAR:37777 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 303c4c13-21be-4306-967a-0d9935c5426b CLINVAR:37777 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d02f3a9e-b478-4ce1-ad69-f2f91103a550 CLINVAR:409589 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 636695ae-af03-4d55-beb5-ead1c9068a2a CLINVAR:409589 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc3c4a93-f50a-44b0-8c59-a7d49bafdae4 CLINVAR:236837 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ba5a65f-5fc7-4db1-b0e5-46d58e4b0659 CLINVAR:236837 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4701e210-e19d-40e5-b75d-0e05fd25eb78 CLINVAR:252817 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc3dde23-7d45-496f-854d-6372aa7fabb5 CLINVAR:252817 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac30fa5e-cc86-47be-bb9a-d7d1e8b5f9f2 CLINVAR:266688 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de8bf3b0-c6d9-49af-84fc-fbd1ce6f5484 CLINVAR:266688 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a965c28d-efd2-4f04-adc7-6e9a532761dd CLINVAR:548371 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9efe36f3-f88f-4d3e-ac9d-72120c17038a CLINVAR:548371 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b08410be-d0c8-4916-a749-3b87a378ff5d CLINVAR:266689 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 561964c2-fb8f-4f62-a103-bdfc2fcdb526 CLINVAR:266689 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9106aea-a5bf-4a40-97fa-cdcf28e62b5b CLINVAR:51260 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a55b9f40-1cd1-4fcc-8ca6-0ffece0ae6d7 CLINVAR:51260 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d269b11-5510-4144-9f2e-4b7a998fcc0b CLINVAR:91773 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46e244e1-3daf-4480-a349-8990e4076115 CLINVAR:91773 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e4ebae2-0f7b-4589-abe7-1af84e44ac37 CLINVAR:266690 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 300e5e9d-d5c5-45d5-967e-c23f942fefb4 CLINVAR:266690 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a546ea9-b84c-44f1-b5c3-98c2ebf33149 CLINVAR:231717 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dbfb0c3-beae-4747-93cd-cafaf27a3c89 CLINVAR:231717 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce497150-c447-452b-9d34-7015249bdceb CLINVAR:51261 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6fadf103-3282-496e-915a-24027df53347 CLINVAR:51261 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e36a1b45-302c-4231-8a7f-b6d6959c038f CLINVAR:266691 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0909ce5-7cdf-4afd-97b0-62ea26b75b29 CLINVAR:266691 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96517a2a-2e9b-4ec3-ba2d-ade6347fd903 CLINVAR:373824 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5881efc9-e799-4e29-b5dc-8cb31ff60bc5 CLINVAR:373824 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3cb0f98-c045-4456-bdc5-2cd9f697da6e CLINVAR:266693 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d14c3246-283d-4be9-b86c-205faf110c93 CLINVAR:266693 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5eb0e562-3c0e-41da-aaf7-33a7bd5ebd75 CLINVAR:266692 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d30ba84e-fce7-4527-bd95-79ea8e679e49 CLINVAR:266692 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0281f3d1-bac5-44a6-bb69-b8bda776472f CLINVAR:422682 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dea430f6-a0c6-4609-ba94-e1ce504b292a CLINVAR:422682 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e971dc6-a18c-4a14-8ac0-0eedacc8456e CLINVAR:254498 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d84731ac-5e15-4b34-9bd0-6451593f4d6c CLINVAR:254498 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe8462b7-3e74-463b-81fb-cf46cb570d95 CLINVAR:266694 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 934b0db4-aa81-4ad6-9083-bc309e2b69dc CLINVAR:266694 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a92090f1-d671-41cb-a46d-d6c3bc8283ea CLINVAR:254499 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7059dae-edc9-4fac-9258-5b05b77cfa54 CLINVAR:254499 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18c1078d-137f-4808-8d62-816a13848e27 CLINVAR:51266 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec1d4de3-c645-4d11-b7b3-16659256f099 CLINVAR:51266 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15b407af-c721-413c-a93f-d40e4cddba97 CLINVAR:141901 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73f44d2f-c1f4-4232-811c-cda2562f6fca CLINVAR:141901 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9dd2e86a-c8df-42de-8085-55f69a687522 CLINVAR:254500 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3852afbf-6b45-4fd3-bcb0-481e0a26b611 CLINVAR:254500 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0301227-53cb-4695-b23d-7b95b74f719c CLINVAR:254501 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8352cdc-86b7-499a-814a-6a46074f5278 CLINVAR:254501 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13402a1b-c867-4733-867d-8eb3596c1e2c CLINVAR:91775 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b67c7e67-67c8-4385-a67d-893ee0bfae25 CLINVAR:91775 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1587afe8-1852-4575-ab8b-f38e8963e1ad CLINVAR:418837 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63d52abc-64ae-440b-b4f5-4db03f094b6d CLINVAR:418837 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df1c804f-1580-4d5e-b22e-e3e654a38b40 CLINVAR:141070 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a335f8f-d6b4-4375-a091-2555f39c5bcd CLINVAR:141070 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6537e6d2-eaaa-477a-8508-f22396989d45 CLINVAR:254502 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f286224-7afd-4539-abbd-b9de9882d6a2 CLINVAR:254502 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 464d72bc-df1d-4372-9046-4e90d20b5c3f CLINVAR:91776 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a5ca2c9-ffda-4b39-a3f7-83d63e1695af CLINVAR:91776 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 893870ee-2e5c-4785-a1cd-16bbba2a4fbf CLINVAR:91777 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c24f8ec0-c69e-4fef-8070-239f60fbab38 CLINVAR:91777 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0fabd680-7c09-44a4-9e34-822a7d6b0d65 CLINVAR:51273 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db1bd3cc-94c0-4a44-ad33-0313244e71d8 CLINVAR:51273 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a49f2d04-cc9f-4610-8f90-39cb8cd44efd CLINVAR:51274 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dab0144-8c79-4e30-b7cd-bed5b67a7227 CLINVAR:51274 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 473866e5-2695-4ec9-b035-7e8508be70e2 CLINVAR:182309 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26cd5098-154b-4064-bd15-ac55b47f58c4 CLINVAR:182309 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11c451aa-56b4-4977-a6d1-8c75eee06ad5 CLINVAR:441490 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aca93de1-f44d-4b67-8f64-38ad1ddfe05e CLINVAR:441490 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c6117dd-abde-4a4f-b37a-41aeb88b2a47 CLINVAR:266695 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea2c62db-8ef3-44c8-a18e-e95189afb6aa CLINVAR:266695 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0dc2eb8-713f-482a-a0ab-970329914760 CLINVAR:433767 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93506f4e-b13c-487f-aeff-a1d93614738f CLINVAR:433767 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c980e69b-4c49-412a-8e76-4024e44852dd CLINVAR:266696 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22364de5-fc62-4bd2-a728-dac9bff049b8 CLINVAR:266696 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f938b974-7a1a-405f-82c2-e9b6c628361a CLINVAR:51276 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e20604e6-c138-4eac-839c-a58b91618d0a CLINVAR:51276 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 010f4412-44e0-4b35-b97e-45e131391464 CLINVAR:267635 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c1caa29-89b9-425c-a17e-e488a10587bf CLINVAR:267635 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f16e4140-b1bf-4dac-bcb6-e52c3b574ebc CLINVAR:37784 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b97819e-15c8-49ac-bfd9-f7d9f7040c3a CLINVAR:37784 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5e55792-01f8-40ff-9d2f-cb876db9fdf1 CLINVAR:266697 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75ae5ab0-716b-46f3-a691-dfbd935d9692 CLINVAR:266697 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 981c06a8-a484-48e3-9eda-99e9f83a9656 CLINVAR:37786 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1497ea67-80d5-43b5-a538-0e5373305a87 CLINVAR:37786 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2edcb5e-b47e-40bd-a58b-a525c24beee6 CLINVAR:266698 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c31caad-f6da-4dae-ba6c-8872c7eae1cb CLINVAR:266698 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ecdc14f-ad33-4f2c-8229-9dcdc09bd9f6 CLINVAR:51284 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77228b0e-ac1b-4814-8b64-0ac46fb43d39 CLINVAR:51284 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c70686f-a3fb-46e6-9ece-01da357d63a8 CLINVAR:51283 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d424794-3400-4d16-9009-f6998c3284b9 CLINVAR:51283 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd70568e-36f2-4384-a90b-f34be7280c94 CLINVAR:125981 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 640bc3fd-40ca-476d-ab6a-ba681b9828c0 CLINVAR:125981 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e739b26c-3c38-4f98-bb45-4db1b6f9cf54 CLINVAR:51286 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar becef3b6-f2c1-465a-9862-44d97b6e12fd CLINVAR:51286 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b651c50-277a-4073-b1b1-724dd3f1f023 CLINVAR:51287 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af3fc485-5ca0-4ede-ba10-faca738a2aa5 CLINVAR:51287 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd274874-fc10-4cc3-9b6a-71934277e0b4 CLINVAR:51289 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5a1ff1e-8ff2-48a3-952e-5341d7a2cf48 CLINVAR:51289 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57a634eb-e1b5-448f-b936-7ec5ecf1834d CLINVAR:266699 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e0a0c96-94ce-4ec7-92f1-7a6d7a162554 CLINVAR:266699 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a0a1fe0-d53b-4599-9c17-f98ed70663d2 CLINVAR:51290 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ffe0df5-f71a-4998-ac7a-4cfb7093b739 CLINVAR:51290 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa44ff2b-2fdb-4231-9a4d-a9b0fe42068d CLINVAR:266700 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a834c01-8230-4da8-b043-ca648b57779f CLINVAR:266700 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0b47362-3483-4851-8aa5-5ff8ffa9402e CLINVAR:51295 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3738e7cf-639c-4f23-b5c8-68dc296b7d13 CLINVAR:51295 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac27673e-f561-4221-acb3-5ee56601c75b CLINVAR:51294 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 850bb276-fce2-4f80-9571-638479254156 CLINVAR:51294 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6d4a058-4218-4150-97f1-5f37a4b98b60 CLINVAR:409504 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7acc3d72-6b1f-41fd-8f90-6ed1f3af1f22 CLINVAR:409504 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a656a723-c7dc-48e0-876f-27333153541c CLINVAR:37787 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 337dd5bd-4fb0-497a-a5f6-d50821958737 CLINVAR:37787 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a956340a-13a0-485f-bd66-c9202c951954 CLINVAR:548350 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59ace2d0-7c9b-400e-8d35-93542479bad8 CLINVAR:548350 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6defe942-44b0-4cb2-bbe9-4d819c14f07d CLINVAR:266703 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9b6df13-6fc7-4399-9de9-37c9ecce37d2 CLINVAR:266703 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f98612a8-27d6-47c5-92ed-41f47359bf7c CLINVAR:186345 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c969c683-9e76-4456-9aa5-733369bc447e CLINVAR:186345 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b6970a0a-8017-4436-b26d-35d53ed9af98 CLINVAR:232597 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bce53aa5-d994-4ba6-af1c-8ef833fab6b3 CLINVAR:232597 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b1f6879-38bd-4299-bc27-1ee6923c5e0c CLINVAR:266704 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0c55fcd-3359-411c-a6ed-d9b30cca461a CLINVAR:266704 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ad805b5-b52d-44b8-98e1-3ceb629dcf16 CLINVAR:266707 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c64b4ef7-e75c-43e4-9d9d-3d9aae1e940a CLINVAR:266707 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c540bf97-c7b0-4165-9dbc-08f128fade2c CLINVAR:266706 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 914accc9-cb30-4ef6-9ba6-3dfae6b4ead9 CLINVAR:266706 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c493fee7-1240-4d38-8a9b-85d10ae3a9c5 CLINVAR:51299 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5840c7c7-2fb8-41f1-b3d0-196e8c68f625 CLINVAR:51299 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5afe4dd-1365-4af2-b3f9-7b84aabe8d94 CLINVAR:125985 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac2d1281-627d-4dd0-ba81-9ff9ef2d302d CLINVAR:125985 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e4bd0eb-c8f8-4721-840a-319fa63bd948 CLINVAR:266709 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 088ed261-0ae9-498c-b2fb-c2c65d55bf3f CLINVAR:266709 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 814b1db2-6456-4e18-ab4f-ec269aba5fe9 CLINVAR:51301 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3002b925-3d87-4193-9811-38a1e7167d8b CLINVAR:51301 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 175241ea-fd9b-4876-8190-34e30697de77 CLINVAR:266708 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d0a0323-6eac-4fa3-a1e3-a454eb037170 CLINVAR:266708 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0e383f73-528b-47ec-bb27-7dc7cb59b50c CLINVAR:51304 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39e3912c-eea6-43e6-9c5f-486138bd705b CLINVAR:51304 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45273086-5664-4054-a182-823caa69d0bf CLINVAR:254503 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c28f1e21-198f-4a0e-a3e7-aef21e9007d3 CLINVAR:254503 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 115bb943-b68a-4363-834c-13cc42123db4 CLINVAR:266710 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b121a39f-cf00-47fb-8a97-85e4a59fb0b4 CLINVAR:266710 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46afc115-e693-419c-b481-b0a716d5a5eb CLINVAR:51307 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7f1beb3-619a-4a2c-aec8-704e3f4a17e0 CLINVAR:51307 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 703febc1-86da-4f0c-848b-dcdcd07cd939 CLINVAR:142288 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b477de8-bf7c-4bcf-a6a8-63b2b4c86241 CLINVAR:142288 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c1ece8e-0368-4529-856f-dddf15acb7cc CLINVAR:37793 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a22af972-a624-4098-9d39-3c8a3bda939c CLINVAR:37793 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fc4987d-3c88-424c-b4bd-a46eb525bb83 CLINVAR:441317 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 048d3f93-cec3-4bff-8980-1bb2d6e0c0a8 CLINVAR:441317 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6db66d24-ce4f-4730-b8e3-fbbdf0354870 CLINVAR:51308 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ba5e212-ee47-4324-80a5-b8bcce9bedaf CLINVAR:51308 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d56b080a-9d7d-4de4-b1e2-257c4382b082 CLINVAR:51310 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bce156ad-491e-40b5-b49f-bd5f40796ebb CLINVAR:51310 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2c66193-f01e-4217-b7de-3b03689cfda3 CLINVAR:409469 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ebcb1c7-0816-41df-9769-32120860c75d CLINVAR:409469 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 076d3074-30d0-461d-994c-fc90abd370d6 CLINVAR:266711 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56d24464-444c-4e3a-a601-7de641e36a44 CLINVAR:266711 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f423da2-6bf5-4b93-bd22-422d62c6a273 CLINVAR:125988 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16cda478-bcb5-40dd-a28c-0d69dd429d3d CLINVAR:125988 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2b0b6ae-d0c1-4d75-b537-d73a540d2fbc CLINVAR:51311 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1f6ed46-23a7-4365-900e-4a93a4701fab CLINVAR:51311 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43365de7-0369-4230-bf07-849ca8f2307e CLINVAR:51313 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06d414bb-dd70-4373-a56f-e8444e19664e CLINVAR:51313 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b33229c-36af-4c77-81df-9193aa099b87 CLINVAR:252823 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 926f291e-92eb-462e-ae73-ab00032a722c CLINVAR:252823 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e20029e5-651b-46f6-ad83-ea983f448291 CLINVAR:231055 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8681e97b-2149-453a-88b7-6b7c24251791 CLINVAR:231055 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a11940b-17e2-4159-abd2-60456845a5e5 CLINVAR:51315 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a4efb23-a0c5-4b83-9fff-b923937d8831 CLINVAR:51315 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62a9abd1-092d-4863-bb46-735820b26128 CLINVAR:91779 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de5e2455-0d87-4909-af9b-3b041d9864b8 CLINVAR:91779 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe55e447-9da4-4ba3-bc4e-6d61e3be620d CLINVAR:187740 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31e130e4-1a77-4dd3-a40f-6fc5671a33dc CLINVAR:187740 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1bc2fc4-beaf-47d8-8ea8-571f2dbaa144 CLINVAR:51316 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db72cdf1-da77-49c7-a783-a5e94495760f CLINVAR:51316 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb2174f7-61c0-4dea-9f78-701ff0b1f33b CLINVAR:37795 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7d55292-8d08-4ebd-aab2-728f1b1dde76 CLINVAR:37795 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af98d193-f76c-4b02-9136-0f018dd2e068 CLINVAR:91780 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0910459d-081f-4ced-9700-2339e0b6ed60 CLINVAR:91780 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92afe4e6-c6be-4ac6-9556-60462a357ad4 CLINVAR:548363 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2130196c-81d1-4a18-8173-3f6987f6fe04 CLINVAR:548363 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c33aebbc-15a0-4ba0-a9b1-7f37db8f3056 CLINVAR:254504 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2518ae2e-f7fc-47a9-96ca-a7ddae50092c CLINVAR:254504 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ddda2d1e-78ce-4409-acba-c293b361b64c CLINVAR:231054 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a89c180-0549-4c02-b008-6d14d476507d CLINVAR:231054 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7493be5b-a158-476d-b0d2-ed62bbd079be CLINVAR:51318 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cbed04a-77c4-4ae4-880e-e35904d2bd83 CLINVAR:51318 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01c4e7a9-17e2-4ee3-87fd-c6b705dd2e76 CLINVAR:51319 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d656886-b563-4fcf-837b-736833139c65 CLINVAR:51319 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fa5c9f4-a4a2-4d5e-a100-8766c38d35b6 CLINVAR:230582 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d13b206c-3e0e-4a79-8409-69e81f1495f1 CLINVAR:230582 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc998490-f4f9-484a-af3c-a3c63ee48b7e CLINVAR:254505 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5f3f38b-8a0a-412f-b7fd-c5d726cdfbed CLINVAR:254505 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf008574-347a-498b-b417-de10801e47e2 CLINVAR:266712 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a50913aa-6264-4357-b963-c0f2fc9a2fad CLINVAR:266712 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 738b18f6-1a8a-4e23-8569-e7477fdcc214 CLINVAR:51322 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 600f3fe1-9a7d-42b4-a4a1-d2fcba0aa779 CLINVAR:51322 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0523885-0baf-4b23-909b-c4c00296da75 CLINVAR:254506 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1609633-525a-4c86-ac27-e3e3da15d5c7 CLINVAR:254506 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a82db100-21b0-4bfc-a0bf-0e5bb2761314 CLINVAR:231724 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39b134cb-6f23-4680-aced-d6cf7ba0044d CLINVAR:231724 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75585d29-3d1e-4b1c-acc1-dea563240e1e CLINVAR:254507 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80cf275b-2ae3-46a4-b567-50433cd9731d CLINVAR:254507 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53c94a21-83ca-47e7-b5af-43f2203cdfb7 CLINVAR:266713 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a25a291-d2c9-43c8-b5b7-bc1e08678095 CLINVAR:266713 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb0a4550-8301-405f-abce-c4adebc02fcc CLINVAR:254508 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3991711-5d5a-4ac7-8313-fa4aa757f540 CLINVAR:254508 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 84192364-03d5-401b-b0d3-3c60e3a34768 CLINVAR:37796 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9ccc6e3-2971-41ae-9a12-753c6d83dd83 CLINVAR:37796 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 66d913b2-4e8c-4b23-a817-020315ffccba CLINVAR:441290 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3b3014c-9b34-4fa3-8dd7-0072e9375462 CLINVAR:441290 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4075c4f-ed06-4567-b57d-8eb22ce0d984 CLINVAR:246127 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d0a3210-f047-479e-846f-a2ebbcb8237c CLINVAR:246127 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2389e344-3013-4824-ab34-d4bc185fe67b CLINVAR:51327 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a017a64-8216-4b5d-84df-09e54f5c06a4 CLINVAR:51327 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f023a914-a6c3-41fb-9af4-e6e54b737534 CLINVAR:91784 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65528cdb-c94c-4c78-9086-5a3b30aa9905 CLINVAR:91784 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58cefc7c-a710-4dbc-afe6-b7a578c37a1e CLINVAR:51331 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a0d0472-8c1e-4830-a9c9-5d3c39b48d41 CLINVAR:51331 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f3a5f19-7299-4101-8bb6-f4a21dc750e2 CLINVAR:266714 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66ec0b0d-227a-4409-bb7e-ab5254284fb8 CLINVAR:266714 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27f7ff8c-771e-4d27-8a7e-3b385bde3e0a CLINVAR:232441 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6db057b7-a19e-4ae8-a7ee-59374b6c533d CLINVAR:232441 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a3268e9e-587b-4084-a6f9-fdf7a43da91a CLINVAR:51332 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6d8e8d3-5bf4-4055-af4a-8ddff3df43a5 CLINVAR:51332 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01e11072-fdb2-4a8c-b56b-1516f38ed4c1 CLINVAR:189178 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2cc03886-0a4b-4372-b25a-943c51abb3b4 CLINVAR:189178 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f39920b-7b4a-4466-9dc7-413fa4c648ba CLINVAR:266716 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d15234e-1214-44a9-bf88-35bf40781d53 CLINVAR:266716 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff1d029b-122a-4fbb-a228-4836f41ec79e CLINVAR:266717 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73389979-d6e4-46a4-b939-7ab121dd9713 CLINVAR:266717 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4bceb1d-9c56-4453-a579-1c50bc3775e3 CLINVAR:51336 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c89f3044-676a-4058-9d0d-31468f95ab4e CLINVAR:51336 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74a39e24-006a-4083-aae9-6f47bfecbd36 CLINVAR:266718 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ccef9ccd-2ddb-4333-8091-413206c0308d CLINVAR:266718 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4000bd3-3dc4-43ae-9899-4de2254b7d9b CLINVAR:430600 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1941ee22-0107-4d9b-bb51-01549a90e910 CLINVAR:430600 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea30ad9c-2802-4b65-9223-2480ada2c9d4 CLINVAR:548336 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b040816a-59f5-489b-80d2-2b5b90dd44b1 CLINVAR:548336 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e0f20cf-570a-47c7-b0de-d679ee2fc1a6 CLINVAR:51337 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4dc953c2-6bcc-4ccd-bff1-8d54aee72200 CLINVAR:51337 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8111321-2b1e-4dd2-8747-6ee628e966bf CLINVAR:266719 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd95431e-89a6-4d07-8a81-ed14f27f30cb CLINVAR:266719 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9773879f-836a-452d-b2fe-56df0a0d4f59 CLINVAR:51338 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7dde0aaa-0ab3-4255-85ac-bfd6785cd334 CLINVAR:51338 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df7a05ee-f4e3-4cd0-a163-716daa8af34c CLINVAR:266720 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b547d39-8399-47f5-8d22-9db4ebd93af2 CLINVAR:266720 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eaf6abfa-bb77-45ad-a947-dba3c2496656 CLINVAR:51342 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78995fb6-3c1e-410a-931d-9a462fe7407c CLINVAR:51342 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2040e92-36cc-45a7-b834-9397fcd84f90 CLINVAR:51341 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edbadfdd-eabf-43b8-abd1-3ddb00f96cf3 CLINVAR:51341 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2dc4cec4-af22-4f4b-8a49-31b61b1b5617 CLINVAR:266721 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dafd35a3-0f03-4ee0-adcf-eda5bb33dc75 CLINVAR:266721 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel caaab38a-a25e-4e54-b00f-24811f5800b1 CLINVAR:418078 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e849a7f7-edcf-46e0-95aa-a37ca1e5be00 CLINVAR:418078 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d93fcc38-bdec-4bc7-b582-d4c92911aa6a CLINVAR:266722 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a2f77ef-b11f-462b-9168-a9ca0531aba1 CLINVAR:266722 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d65b9217-12b5-41e6-98d3-7fb8533b4174 CLINVAR:51345 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b309e4c2-76c5-4557-a5c1-dce6eb032198 CLINVAR:51345 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7917a1b0-1781-4bde-b0eb-e68f55b4466f CLINVAR:51344 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9538b8b-e846-481f-b146-d15160f652fe CLINVAR:51344 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03ee97ea-16ff-4e75-b36e-6bec292f3b1b CLINVAR:51347 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ebf23684-e9de-4ffd-9a79-b28de171233f CLINVAR:51347 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f9b29ae-4191-4fab-8772-87694cf155e5 CLINVAR:51348 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0aa98d40-2456-4564-8e08-aa00ec36d57a CLINVAR:51348 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1edd85b0-716b-44cc-b1a1-38741d3ec978 CLINVAR:51350 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ed0cf48-4a05-411a-8bca-c9e4b017d238 CLINVAR:51350 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5976458-4b40-4955-998a-ef8b949172f0 CLINVAR:91787 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80be594c-ca06-4dd0-85b4-87b776a5474b CLINVAR:91787 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec4982ec-47b8-4798-b944-77ccb167e5a3 CLINVAR:9322 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 788699c1-50f8-4f4e-85e3-b79d84ff506b CLINVAR:9322 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10c239f6-3931-4a5c-9812-29cce0ac1e14 CLINVAR:51352 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8fcef80-bdf4-4fad-bd7f-88e44071b0f1 CLINVAR:51352 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f8fb4871-6587-4777-9965-bc8ff12e1ed6 CLINVAR:51351 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0ce58d2-b262-4bdb-b166-ff16efab538f CLINVAR:51351 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ce45656-51a8-4dd6-87d2-8fe1c881a64f CLINVAR:37804 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba1d711f-797d-4d5d-9ad4-e90a3f6fd4ce CLINVAR:37804 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7a7f2f3-cec2-4b25-b70a-114a77cefda3 CLINVAR:51354 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d964eef-3048-4628-bfd4-f1008dd6c439 CLINVAR:51354 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21d91095-0652-4825-ba8e-a397e7d22f29 CLINVAR:231432 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b68259a-d60d-408a-a173-8c52a3b592ab CLINVAR:231432 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7eb06cde-e54d-49dc-a0a0-1436efec0a71 CLINVAR:55792 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b17b0fdf-fe30-4c15-84ce-b10c52f560e5 CLINVAR:55792 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f129593-c457-4711-b4a4-a53469fcc6d6 CLINVAR:55791 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26ef5984-604d-4509-8a79-5ef998409e2a CLINVAR:55791 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c611c075-1d1d-4242-be5f-802825acfd0c CLINVAR:51355 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab3c7c01-52c2-4ee6-a399-13948d037530 CLINVAR:51355 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8d6756a-18f4-4418-a9a8-aa7bc1937bd8 CLINVAR:548340 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e00ccec1-f228-47a8-9453-e56db20b6d82 CLINVAR:548340 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 082a14d6-27b1-40c5-812c-00e442c7f59d CLINVAR:125995 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a26a751d-80d8-4ec5-98c1-a0321eeed87f CLINVAR:125995 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4bfd40e2-feba-4925-a5e6-28afadd72558 CLINVAR:51356 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b265869-5597-4e59-be91-e27c3c78f40f CLINVAR:51356 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f023d92-3240-4353-a5e9-8a875fb01fcd CLINVAR:51357 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8705ac59-4bd2-4a70-bc77-9efd0d868e87 CLINVAR:51357 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37e7238f-2f4a-42e3-ae87-aeba1d58f3a6 CLINVAR:96784 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76296388-045b-4977-aade-5740b47574ad CLINVAR:96784 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08e25bff-f7a6-4cd3-aa5a-b1f9ad882d92 CLINVAR:125997 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee376f34-93c8-4603-a958-7f79ac6c9f13 CLINVAR:125997 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16f0f24e-e65f-4f38-88b5-94ccf37232c7 CLINVAR:51359 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62e5b03e-dad5-43f4-ad85-3ea40e0c11ed CLINVAR:51359 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e64edd8-3c2e-4fa8-b73c-af68b73cef27 CLINVAR:266723 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cbc8400-4d8c-44c7-bb7f-078b00fed1ce CLINVAR:266723 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56f872af-aa66-444e-ad00-080017ba8563 CLINVAR:266724 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f511fa6-bf37-41fa-bcf4-fdf2869fd1c9 CLINVAR:266724 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d83e33f-905e-4fb8-9f36-7f114932d367 CLINVAR:438964 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc01d251-e174-476b-b867-b99055b729b1 CLINVAR:438964 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dcc6ab3d-2d5f-4e9f-b6d2-3aaa9a4e4ebb CLINVAR:51363 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a695af3a-7a06-474c-aefb-d0419523c034 CLINVAR:51363 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fc94611-2ac0-46a2-bdba-2b098909f7ca CLINVAR:266725 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7927b8ba-f635-45fe-9d78-55a14b62b0ca CLINVAR:266725 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f44d2dc-c7e0-4d93-a0f4-cdc2119828a3 CLINVAR:51365 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9c82cb9-2fb8-44bd-8f0e-588c76abeb61 CLINVAR:51365 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel faf3a928-b27f-4af7-9ca7-8b6a2251d673 CLINVAR:266726 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18470eaa-97c7-40f8-b587-3d7056bd96a2 CLINVAR:266726 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e42b9698-50be-47f7-a4e7-ab23e5ad6725 CLINVAR:125998 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d57adad-dc39-4316-97a0-63c7bac0173b CLINVAR:125998 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a09da86f-82b2-46b7-84e1-f2eaac81e947 CLINVAR:254509 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32bf3214-530d-420d-95d4-30594ba25b94 CLINVAR:254509 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 672275f1-3279-47d2-bc23-1c90d34e8c4e CLINVAR:51369 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cbffd94-4c86-49ff-b7ad-07ab75d27013 CLINVAR:51369 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 281a668e-dab2-4dcc-b8fb-9f3230bd17b4 CLINVAR:141199 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fffd24ea-9141-4826-971c-fe14f69c1e5b CLINVAR:141199 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e03878e-1df2-48e6-bf78-78807813b062 CLINVAR:125999 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0dac0d6f-3fe8-496c-8d0b-cfb89fe5b2f9 CLINVAR:125999 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50cc6481-948c-497f-8604-a3c2c27f0bcd CLINVAR:266727 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76bb3164-c26a-45eb-bac8-0a6e8ac3be34 CLINVAR:266727 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06ceeb56-7fe3-4a1a-bfdf-4b19aed17345 CLINVAR:51378 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1f75b48-9809-42a0-8668-46bf589b3c9b CLINVAR:51378 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64393b86-3ccb-4e5d-a6d8-bda83b0fbc15 CLINVAR:51376 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e79349fb-40a3-498b-9d6e-69b1667ce5d4 CLINVAR:51376 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b33b9965-0d43-4ce6-aa6f-9663d1b30b50 CLINVAR:254510 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a13e45bf-a220-4189-afe6-79cf74e904bb CLINVAR:254510 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df977501-a50a-4c75-a3f0-ff0138eddac3 CLINVAR:266728 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51e84e72-d81f-481a-8d21-78cf2cc7d6a1 CLINVAR:266728 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7e0c84c-ec24-4c6e-bc7c-2bbbb1007bc1 CLINVAR:548402 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac34f7d7-257a-4b42-9218-d7063bf0cd95 CLINVAR:548402 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52bacd26-554c-4021-9893-a8e9252fbd4d CLINVAR:37811 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d8873d4-c500-4bfa-86de-b69c9136407b CLINVAR:37811 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53ced17f-7451-46ba-a43d-3ed055e99e29 CLINVAR:266729 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e49c8ac-8756-4ae0-ab6d-c094d8bbca43 CLINVAR:266729 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8954d36-7776-4746-96cf-2ed325dcfee7 CLINVAR:254511 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44cb0c80-940b-40d3-a69e-97568b119fb2 CLINVAR:254511 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd76d2ba-3b36-4a7e-b544-390fdc7d5810 CLINVAR:266730 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e87a1f08-32e3-44a1-a396-7a8590de4a52 CLINVAR:266730 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d35ee67d-f652-485e-bfec-1079d6176449 CLINVAR:409433 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b9c9cbd-c3a1-4036-97b5-da65272093cc CLINVAR:409433 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b092863-482f-44d5-be01-426f6d9922c5 CLINVAR:126001 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4ef8ede-1492-4917-af46-d3a36cccf03f CLINVAR:126001 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26f6d183-35ce-4d00-aee6-982c79b79e55 CLINVAR:37812 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af61d6a4-e8aa-4779-b6c1-8b198a54902e CLINVAR:37812 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 194194bd-b5c0-4657-bf28-ac75f1f2f1c2 CLINVAR:266731 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e6f261f-737e-45eb-9ca2-9bc3f0ddca5e CLINVAR:266731 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b717d789-6b65-4a2c-8f02-fc0fe6177155 CLINVAR:51383 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5f3d214-ce5a-4a2f-bcf8-cbdb6128f339 CLINVAR:51383 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07cad8ce-8b35-4a42-9b8f-b0d287509b73 CLINVAR:266732 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c1dc8b5-2953-4f93-9f11-3f1c1fdc4b95 CLINVAR:266732 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b6004c2-9505-480d-9353-4e0fc5de7159 CLINVAR:37814 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82079523-01cd-47e8-8abf-29c3ac138b54 CLINVAR:37814 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c50e2e74-fdeb-4866-aad8-8e50b3d22492 CLINVAR:182311 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27b95c75-7d8a-4b5e-a0df-9518eaf53777 CLINVAR:182311 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52549801-c821-444e-8b9a-e9462142ce51 CLINVAR:51386 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 162a5e6e-894a-4565-8fbe-77696caecfcc CLINVAR:51386 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b6e06e24-6358-4176-b123-38e1f9c3f277 CLINVAR:254512 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a95f3db-174e-48dc-93b0-4d03f4266217 CLINVAR:254512 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d44cee6-d5ac-4330-b277-81b8f9990992 CLINVAR:51387 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b8c4b62-0007-48e2-a449-aebda187e30e CLINVAR:51387 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e43583c-a80f-43e9-9a0d-8c3cf921d59f CLINVAR:420549 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe4a073b-f002-475d-ba7d-55f1cc45d8a7 CLINVAR:420549 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6f6aaaf-6c6d-4423-a70e-02a94845abb5 CLINVAR:548331 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c492411-306f-43ff-a784-2f6adbafef57 CLINVAR:548331 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13777a72-77b3-4262-ac9f-5ede1cfae0c1 CLINVAR:51388 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce805d91-a39d-414a-a90c-2ffd3c24144a CLINVAR:51388 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5bb4bb89-561c-4a3b-8fec-534c2e764945 CLINVAR:254513 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f7c360c-ccc1-469c-b39f-5199c9083a5d CLINVAR:254513 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48f3331b-76fc-46d1-a022-46a9d0efa13e CLINVAR:51389 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e48893a-4b0c-4f25-86af-be02fe5441a4 CLINVAR:51389 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ffea1d18-175a-477e-8c6e-6a3db1a6f507 CLINVAR:234872 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72f3d798-d2ae-4dd1-96c4-d985da8b63b3 CLINVAR:234872 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd0dffab-38ae-4b56-ae97-7c99f1025533 CLINVAR:420963 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d99ad488-20ad-4cc5-bb65-e87a25729212 CLINVAR:420963 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b3caedf-2c6b-469c-8bf3-5eb84859b800 CLINVAR:126003 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 176f06f5-cbed-414c-89eb-1006feefe6b3 CLINVAR:126003 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d774ed1c-73a2-4567-a97f-fdbb7c9737b2 CLINVAR:266733 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5f54932-57c0-4e63-8341-fc23ca928831 CLINVAR:266733 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f49621e-0077-4fbd-99b0-7271c98151ae CLINVAR:51391 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dad162a9-048a-4944-8c4c-56e042e18b95 CLINVAR:51391 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa1e6ae9-055e-4959-9b4a-172ceaa8db23 CLINVAR:266734 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00d5d544-14e1-473a-a4f8-49223c1b5e7a CLINVAR:266734 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f39c979-6aed-4d1f-83ea-10b5cb326425 CLINVAR:433194 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4abb627a-48ee-4b7b-a9bc-e76bb696741b CLINVAR:433194 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6bcda6b-d101-4b6c-9c89-b05cc9c3ee62 CLINVAR:230420 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc9e822b-f753-419b-9ed6-ef4222eea3a2 CLINVAR:230420 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c80aada-6466-4153-980d-63203c20ca59 CLINVAR:37818 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce722807-3afc-432e-a17b-21cc077ee5b8 CLINVAR:37818 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e33f468-2034-449f-9c39-26c35a9efa13 CLINVAR:409575 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ebe63da-5115-4c30-9314-c00402e0e383 CLINVAR:409575 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2bb7b9df-a943-44d2-b029-389aadb4e070 CLINVAR:89046 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34dd0794-d933-4599-a4f0-104ccd25858f CLINVAR:89046 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3f7574b-869b-4736-a99e-b72f995e6686 CLINVAR:51395 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c16f86f4-8b96-4dbb-a6ab-5fc6cbd4bc0b CLINVAR:51395 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 825f55db-d495-4248-80ac-2b6a178acb61 CLINVAR:431300 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 277ad9d6-d3e3-4e0e-b116-0d4748d274ef CLINVAR:431300 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7fde4b19-ebc3-446b-a0ce-c63d59afb8ce CLINVAR:51399 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4181789-6441-4a24-af20-a12b7db19607 CLINVAR:51399 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f131c664-1b5b-4a59-874e-161299178fa1 CLINVAR:266735 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3032d457-e0d3-46d4-a82e-abec36ebc891 CLINVAR:266735 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74ef2aa9-965c-407c-a2e3-02232e0b6fd2 CLINVAR:51400 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bea63be7-43fa-4719-9147-679205fb815d CLINVAR:51400 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2761ecca-699b-4d89-893b-6c64b1f5a764 CLINVAR:409521 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6952c923-0e2f-4097-8793-1ca803c3fd92 CLINVAR:409521 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6e76e42-3dfb-48e5-be15-0f5988657f2b CLINVAR:37819 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5e2103d-465b-4308-831f-a9348fb4a8aa CLINVAR:37819 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cee01439-5b3c-4487-acf5-7fb6145cea37 CLINVAR:51405 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c052bde-963a-44f6-a343-5ea08d5204b3 CLINVAR:51405 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1fe39a8f-4019-47ba-9bc7-e80821cfcf5e CLINVAR:266736 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3d27f90-cf17-43ee-856c-daabf0b3014f CLINVAR:266736 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7ad9162-afac-4e26-9be7-3b88c16b48d5 CLINVAR:37824 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b926911-28d0-4b8b-90f1-fac0a3e504f4 CLINVAR:37824 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d81a5650-f720-455f-90f0-2b5f22cce7b6 CLINVAR:548358 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a8c78b9-a46e-46e2-99f7-505d9a2752ea CLINVAR:548358 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 432a9f40-539c-401b-8204-8e84b152f0fe CLINVAR:37820 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0e52806-5af2-42f0-9b07-9db2e6b526a2 CLINVAR:37820 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c927a585-3a12-4a42-9cfe-c61130495315 CLINVAR:51412 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ccd34d9-b9c9-4486-8349-a0ca22781ea2 CLINVAR:51412 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a4cb05c-bb36-485f-a945-390efd92ad73 CLINVAR:266737 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11dfa4a0-d9ff-4b02-b5af-22bf65ee7363 CLINVAR:266737 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f22e243a-4107-4037-a4d7-cfedb498f69a CLINVAR:51413 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 600a70f0-705e-4388-b9d7-0d18d8bc6c8d CLINVAR:51413 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87e9362e-54d2-460f-b00d-b1370f9635f7 CLINVAR:37826 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2a5534b-fd74-473c-bb63-8b056c6403b7 CLINVAR:37826 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90c7e88c-9343-41a6-b6e6-fa9db489c25f CLINVAR:266738 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73f7c4aa-167b-4b79-8d6b-f66901f4a523 CLINVAR:266738 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea658e85-3d67-4186-a028-e850fdaf6647 CLINVAR:182196 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0349fb8a-7c17-48f1-851b-89cf70efcdd3 CLINVAR:182196 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 61256430-acb0-4966-a4cc-5a662b09c94d CLINVAR:254514 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32635f28-8809-45ee-b92f-299b1f98da66 CLINVAR:254514 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f79ac1f-2629-43cc-bd81-848823de68b7 CLINVAR:141799 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 278513c4-d3fd-4967-9ede-0688ceb970df CLINVAR:141799 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b1e8065-cded-42cd-85de-d77a6cef8c56 CLINVAR:37827 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c204422-1eb0-4534-8ec2-4400d762c8e8 CLINVAR:37827 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 412fe23e-4a42-4583-8d1b-57ed91cf3603 CLINVAR:51418 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00666b3c-bd85-4c8a-a441-84ddd935e717 CLINVAR:51418 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a71facea-de80-4f50-8564-461d77e49217 CLINVAR:228324 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28cd34d9-3ed2-4ed5-ac4d-09aaf302a825 CLINVAR:228324 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d25dbe9-b1e6-4f90-9366-363ed4947ef9 CLINVAR:409533 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91d28d74-68be-4949-86b7-d094409fdde9 CLINVAR:409533 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f983548c-4769-42b4-91a7-05387924ec5c CLINVAR:220624 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d82028d-34b2-4561-ab5a-e28e27f48086 CLINVAR:220624 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f6a2fdc-096f-4e56-9ad5-c1c1dfbe6e89 CLINVAR:51419 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77aa67b5-4289-4195-9572-9fe5775630ba CLINVAR:51419 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb55427f-97f5-4ef7-a9f8-ae0ec821ce43 CLINVAR:51420 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2d25f30-d4a0-45da-ac7a-4fa02fa4ce19 CLINVAR:51420 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9c682a1-b784-44c0-b49d-0a56d1ff3330 CLINVAR:51421 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfa28836-a3e0-4ca7-86e3-cf0477a469a4 CLINVAR:51421 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c04c465-6f36-4876-b9b1-412179e66847 CLINVAR:220844 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ea56467-d992-40f9-aba9-13671d763bba CLINVAR:220844 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b42e59cd-1f47-433a-8761-7aba24c4f1df CLINVAR:51422 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61fe0eaa-4325-4474-9d1c-dff5159df562 CLINVAR:51422 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7405ab83-d49d-4a9a-8af3-861f90c90eb4 CLINVAR:548395 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d04ad75c-2049-4c8c-b6c7-878951c6cdd3 CLINVAR:548395 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93d700f1-e3b1-429b-b075-499f498e0990 CLINVAR:266739 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d07cc2d7-98d6-4fff-9130-e530fc2cd7a1 CLINVAR:266739 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c90a6e30-d00f-4f1b-9cc2-bbc93fae2623 CLINVAR:51426 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84b7bb5b-e866-4032-83e2-ea37fb4160a4 CLINVAR:51426 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7ef62f2-3e22-400e-b0bb-06b6d4b9e4cf CLINVAR:431303 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 985df907-a4f2-48f5-a5d1-47b32227311b CLINVAR:431303 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5d4de3e-2eaf-4918-af43-65bdb49b7bd0 CLINVAR:51427 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63e475bd-913f-4e53-be3c-3938e97127d6 CLINVAR:51427 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cac3d552-032e-41e5-b71c-ea32a0379b62 CLINVAR:51429 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32a76105-f93a-4ae4-823e-46001d11c74b CLINVAR:51429 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11f51846-c45e-4537-85fc-a7b98ed3a2a6 CLINVAR:266742 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b14c9549-1f78-4d79-ab0d-cbdfedb65ed0 CLINVAR:266742 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7ffb0b9-7368-4fa1-8a64-c87ff24ed5d9 CLINVAR:266741 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8d3e66c-cdf4-4771-bce1-2b3620415680 CLINVAR:266741 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f75b03ae-b1e1-41f8-85ad-3893e01aecc8 CLINVAR:266740 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df2f7a11-3c3a-4537-9c38-4c1c54a915d6 CLINVAR:266740 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7016258-fdd0-406a-99d6-1f4dd471eab2 CLINVAR:230529 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df5d3f9c-e750-4900-8296-6deb8fa8bd48 CLINVAR:230529 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1692b02-2b1c-4232-800f-42b83907dbc3 CLINVAR:266743 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d066663-4f84-46a6-b527-5ff3ff25c5b8 CLINVAR:266743 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51379a00-daa7-4b17-866b-94520f39432f CLINVAR:51434 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86b57785-30fe-4688-a456-f6089490ae53 CLINVAR:51434 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8226aa26-f8bc-40b9-90fe-3c38f55bcbbf CLINVAR:37830 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa2e80e3-662d-4e81-95d4-2f35d7db4aa3 CLINVAR:37830 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca75f6b8-1392-4258-9def-4d68890a43f3 CLINVAR:51436 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d81e6ef0-13f8-4d2c-a732-c14bdf573531 CLINVAR:51436 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f640abc-134f-449f-af0e-de3ad65b762c CLINVAR:51438 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 908c7bba-2180-4fde-a1e9-0033b3544e6a CLINVAR:51438 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58aec21c-8893-4b3d-bf49-a45b99e7db06 CLINVAR:51439 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63da2d45-1d88-4b5a-8967-2ff81369452a CLINVAR:51439 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f56f65b-7214-40eb-8ff1-dcd6b89814f5 CLINVAR:51440 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64c46f2a-40c0-4046-a797-1fd160b803c5 CLINVAR:51440 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60c1ee0f-8cb4-4ae2-a3ad-f823dcbabafa CLINVAR:51442 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6f352d6-bff5-44d3-bf2b-212832400792 CLINVAR:51442 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efef48fc-9524-4566-8877-3f64a4177549 CLINVAR:422129 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4656c2c0-8ad1-45a9-a375-8a2ca729d248 CLINVAR:422129 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9efd5607-b4fd-4def-b978-25606c78f0b8 CLINVAR:51443 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5108363a-0e49-4f8c-a3df-40d94f9f6626 CLINVAR:51443 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab990832-edc7-44ba-8c9e-61f20339bab0 CLINVAR:162102 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e64558e3-a803-4dfe-b67d-00a6ac718c17 CLINVAR:162102 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8d395c6-b9aa-4bde-946e-27331eee8fa1 CLINVAR:266744 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b39d069a-97e8-4617-8837-5311ba635876 CLINVAR:266744 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d4fe13f-2554-48ad-88be-df58819751cc CLINVAR:51444 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78c7cb62-fb82-4816-994f-9f29f84069f4 CLINVAR:51444 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f84a9a11-7085-4b99-b9a2-42dc3cb3afde CLINVAR:162103 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e9d2756-7f00-4387-b7f5-4fbe5612ca6d CLINVAR:162103 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7933ac7-e92d-4815-a5b9-129926629149 CLINVAR:254515 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9108e13a-2b54-4323-83c5-0562cdc7b3cb CLINVAR:254515 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16ea6b46-87de-4b6a-aa34-1245f4a42fa3 CLINVAR:254516 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f47e2c40-b55e-4974-a9d3-aaad4fb9b43b CLINVAR:254516 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23a8b8a5-a80f-4b60-a2c1-d691d09df4de CLINVAR:142309 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d78425bb-0ad5-440f-a662-08c14985052e CLINVAR:142309 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bb5a0d6-106d-465f-a603-a5e61fe3a72b CLINVAR:51446 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62c0e39e-f34f-48d7-aa76-80dd2886225f CLINVAR:51446 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9abd4923-e130-46f1-bd6d-35a1e0c4a5de CLINVAR:266745 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3e998c3-fd5b-42b6-be86-e67ad17a7847 CLINVAR:266745 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88285cb0-9ef1-42b4-8bdb-7da00e3138f3 CLINVAR:440426 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d420f767-497a-4722-a397-7c2efed43026 CLINVAR:440426 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 626dcb87-7437-487f-86a2-2d534594817e CLINVAR:433774 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c79efe4f-5794-4933-b68a-0d607c61dbb9 CLINVAR:433774 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83619b19-a0d4-4e4f-98c5-265036f8316d CLINVAR:37834 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 820d43e7-5fb1-440a-9b48-4cec5118030a CLINVAR:37834 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27404166-2009-4541-a047-03bc1ea82639 CLINVAR:51449 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0abe1bef-f2be-4c71-998c-9f5e771add9f CLINVAR:51449 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdfec5b6-c71e-46a2-b35b-07d8ea04af2c CLINVAR:225716 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1ddcd22-8194-4fd5-b1ef-ca2599b8248d CLINVAR:225716 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35c4d3da-1007-4ef3-8b6f-fcfa7b00c2c8 CLINVAR:430599 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e881f76f-6058-4d89-9c67-f1c4f0f59521 CLINVAR:430599 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35899fc0-04e1-42f9-84b7-77a04bb0f458 CLINVAR:91797 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a01e537f-a95c-436d-8a4f-9de57a5b5321 CLINVAR:91797 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55d54dff-c202-4218-ab9f-a9a5d65d9c33 CLINVAR:433776 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7010cb47-d865-4dcc-ae11-1c793e9c2ac5 CLINVAR:433776 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64400a24-2e3e-477d-86d7-20c75928b408 CLINVAR:266746 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a00f9457-246f-497a-8d82-5258956c74d5 CLINVAR:266746 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9be0e083-271f-4a87-bd87-ee2a5ad86b92 CLINVAR:91798 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b6aa9ca-0158-4ce1-adbc-9ca65af26865 CLINVAR:91798 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17be4a26-d19b-4f6a-8ddf-92d53c53f59b CLINVAR:266747 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9907e7f2-f371-4f05-81e5-56717116c478 CLINVAR:266747 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab570dee-71d7-4136-98e9-32fd03639d1c CLINVAR:548369 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f551f83-4f86-4899-a4ad-ec77f110524d CLINVAR:548369 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 557b6a32-e9a3-494a-9102-9b7496f58618 CLINVAR:431304 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 786c0ea6-d749-4190-a6b8-73c7d785ab14 CLINVAR:431304 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3cb367d-a9a4-4cad-8542-ceebabe7bcc7 CLINVAR:548364 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7ef2f40-b14e-482d-a84f-17576133caeb CLINVAR:548364 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07794d68-f8d1-436c-a22a-d14894327b2d CLINVAR:266748 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90c1ca32-c2d7-4a0f-8dfb-f40d0ddbd06a CLINVAR:266748 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c067b7cf-9de3-4dff-93ba-580a3301bf17 CLINVAR:236849 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5bd97d4-3a8a-46e4-b525-e306d929fd53 CLINVAR:236849 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90e125d9-6883-4f3d-bc81-45ba4068283c CLINVAR:141015 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a3200f9-4cc7-4f09-827f-4743beb6cc7d CLINVAR:141015 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1bbf56d4-e39a-4d39-922a-882afd41b666 CLINVAR:51451 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4063c001-6b21-40ca-91e3-252aec1f63bb CLINVAR:51451 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 484f780c-eacb-4f5b-a6db-9f1a5f336782 CLINVAR:186927 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1e78d05-1921-4923-8ab9-5baca0976772 CLINVAR:186927 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b51cb05e-6ba7-4d4c-bb23-66b9bf1f5f33 CLINVAR:51452 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6f09da0-cd5f-4c89-a1b8-94801b006c79 CLINVAR:51452 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 573e8bd9-f5fd-4318-9dee-63cd13114e20 CLINVAR:142722 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 517911d2-b5a6-48d7-9a69-cfc70f419b24 CLINVAR:142722 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 630ce7c5-725a-4cfb-9c5b-cc149384ffbe CLINVAR:126007 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8fa6d76-033e-4dda-82cc-63224dc7113e CLINVAR:126007 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8d0adef-424c-4efc-bcfc-870aff44b121 CLINVAR:51453 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3f07864-61d8-49d7-8bc9-cce281b14976 CLINVAR:51453 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4c898c9-c67a-410a-a4fc-48fd1945caf1 CLINVAR:185422 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ece0b9b6-6fd3-42d1-b821-eaccadbc07b4 CLINVAR:185422 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1983a794-cc80-4d15-b8ec-2848a45134f8 CLINVAR:51454 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 597496dd-0eef-4028-8f22-4e975dd11664 CLINVAR:51454 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd78c46c-7f48-48c2-966b-bfde5dac20fc CLINVAR:438970 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1711647e-141f-4ce9-adbc-4f8d14b201cd CLINVAR:438970 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8f9c4c1-cfef-41a1-a1de-fe269097d986 CLINVAR:51456 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce20ca0d-777d-49cc-ada8-a1b1a33d3277 CLINVAR:51456 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de04dc65-53f6-44b3-ae32-8efc2f50aecb CLINVAR:96789 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80b206da-66dd-4bdb-8ea6-af30da180c5c CLINVAR:96789 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03378e90-cf87-41ee-9781-36b9c07e7763 CLINVAR:266749 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c259527-e9a0-4c81-a80f-894689a7aa16 CLINVAR:266749 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82a5bcdf-7b1c-403a-b127-b63876310232 CLINVAR:230170 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be3d72ee-1362-431b-8fe5-5fe44e0efc1e CLINVAR:230170 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea03af2b-5381-47ee-9e93-2250a128d7fa CLINVAR:231604 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87a45e16-8533-4e45-b283-cc731178d3f0 CLINVAR:231604 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7056ff7e-b401-42c8-9d4b-dcfc18bc72cb CLINVAR:266750 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c984a8c-279b-41e7-b1f5-b15c6a104703 CLINVAR:266750 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3382574-51a3-4829-86f4-851c383e1c7c CLINVAR:141573 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9697da27-bfc5-4384-805a-bb854017498f CLINVAR:141573 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e289cef1-65b1-4bb4-a219-1f6e6c487bb1 CLINVAR:142648 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dad77847-16d8-4039-a170-59ba487d98c3 CLINVAR:142648 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b65bdc76-3cf5-4aed-8158-8ce308518917 CLINVAR:252426 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c32ef6c7-19d8-46ec-9717-f86b3fe56b6f CLINVAR:252426 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36343aa6-5146-45fc-bd42-10714228f99b CLINVAR:441504 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2cfdf2d-52ba-4147-91b4-29b86c36ec0d CLINVAR:441504 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06bea37d-4ccf-44c4-9940-e8b5a37dfc6b CLINVAR:51464 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 866e5814-239e-48e3-ae63-7f8f2f22e877 CLINVAR:51464 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dde1beb0-7fec-405c-a3fa-8472f783f4c6 CLINVAR:548437 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f5f86a0-b4ea-49f2-8529-864ca0f6eb72 CLINVAR:548437 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a179a8f8-bc8d-46ed-980d-62c0036bcf0b CLINVAR:419825 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0da6f4b7-0a82-477c-bfb3-bf8e559ce7db CLINVAR:419825 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33d0a34a-4eb8-43d3-838c-2f2468c01709 CLINVAR:266751 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cf7c350-c416-4919-8004-a68a221c5339 CLINVAR:266751 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bff19d3-8ff6-46be-908d-1754e7adde82 CLINVAR:51468 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48c8c198-d222-4a72-984d-0c1f501c229f CLINVAR:51468 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 343ef83f-bb00-4d6c-900a-c90b37a714fb CLINVAR:51469 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8cb5eeaa-97d9-4782-9650-d0f3be0e0e2e CLINVAR:51469 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d5bd487-dec9-4cc3-8490-1afd52a0adf8 CLINVAR:254517 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95195d17-b3bd-4ce2-86fa-10219d3a5939 CLINVAR:254517 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 513921cd-bcef-4558-b464-2c2a403440ea CLINVAR:433777 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfaa562d-fe78-4ee0-9b25-d5fc3e9ca3ab CLINVAR:433777 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4d99617-da3b-4228-9ace-0557e809d988 CLINVAR:229781 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5794b852-8eff-4f0c-b60b-21498aa5f305 CLINVAR:229781 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bda51065-21bb-4a5a-8382-96cc2b28d472 CLINVAR:51470 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c860864-4da7-44c3-9e4e-bd2488b448a5 CLINVAR:51470 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d37ba48-9457-4b63-ab1d-96690c45b447 CLINVAR:126014 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3b9b008-f52d-43c9-97f2-84b420af6958 CLINVAR:126014 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8a98e3a-d766-46a0-be5b-a2f67040f3ff CLINVAR:51472 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed293d9c-9db2-4623-a6a5-abff5e37c9f5 CLINVAR:51472 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f31b6af-3ce2-438d-af42-8378be91f4f0 CLINVAR:51473 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22bdb37c-383b-4ef5-9073-e60abce5e80a CLINVAR:51473 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0974d82-aa4c-4ff2-bd12-89a61209a1ef CLINVAR:96791 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64edc17c-6695-43e8-8e4b-236bcb1bd208 CLINVAR:96791 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 744238a5-5eb1-4c1d-89ea-95066c2b6565 CLINVAR:236851 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5befad3e-726c-4f3a-b5a3-d7adecefd39f CLINVAR:236851 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c98a55e-0a6a-42ea-8007-421ed90f53e2 CLINVAR:409476 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c775914c-d520-4599-b61d-68a836a35d32 CLINVAR:409476 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3be3503-c329-4ef2-9cdd-7e76a089c975 CLINVAR:433778 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf566509-e189-434e-8496-50e6ae4010ab CLINVAR:433778 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12b97a20-4bcb-46b1-8318-88c17efb65b3 CLINVAR:51474 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8968211-5d36-4c99-9581-8933e2cbfc96 CLINVAR:51474 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc1003a1-815a-4154-9b60-935fe15cd9d8 CLINVAR:266752 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01223e29-35b1-4ad8-a657-5528150b721e CLINVAR:266752 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e76bf1a-0f15-48dd-996c-514c5410fc27 CLINVAR:266753 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb267be0-f5c3-4b4a-8970-c50dcf255744 CLINVAR:266753 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fc4af25-b2c3-45fb-bf29-6f2c1440338b CLINVAR:266754 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00d0cca7-1fab-4faa-9b5d-9aef1664a4df CLINVAR:266754 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1fd84a4-e058-4ba7-9273-f59fd33d9e3a CLINVAR:51478 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2466e87-9c0f-4677-ba4a-0ddf5d892932 CLINVAR:51478 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65822e7b-c819-45e5-8623-dd06d9786a93 CLINVAR:266755 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0b868c7-98be-457b-abca-385380b75baa CLINVAR:266755 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86cd8d8d-72d3-421e-b370-88c8ae015bf4 CLINVAR:409595 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d80f32fa-2fc3-4b57-8c51-d4923631f43d CLINVAR:409595 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e051dd8-1564-4eed-acf4-df2581a6b529 CLINVAR:266756 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5481b160-39f6-45dc-ba7a-0ef49cb442fa CLINVAR:266756 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4bee8c6a-a74e-4c4b-bafa-382b33ec2a42 CLINVAR:266757 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1707eef9-90d8-4592-99e1-423f96ae9552 CLINVAR:266757 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b088e0c-6bd6-4a98-b31a-ae0d59824a67 CLINVAR:51482 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db2e3700-13e4-47c4-b236-1dde76b57c58 CLINVAR:51482 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12ac56fa-7427-4b40-aaca-ff0eecd8780b CLINVAR:266758 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ea07fb9-b4e9-460f-b9dd-21b9011ea3f7 CLINVAR:266758 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85643e12-d949-4f34-aa01-6220869812e3 CLINVAR:37846 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a199e5b1-c6a3-4ca2-b956-3e291a01c010 CLINVAR:37846 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bcdfb72-add8-425d-abd2-713ed820d404 CLINVAR:51485 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a35ea1e-cefe-4038-afee-58c19f6431ed CLINVAR:51485 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4df6e31b-336a-4878-bb47-e9b142d29163 CLINVAR:51486 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7de56303-1bbb-4c31-9a4f-6a81e037754b CLINVAR:51486 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29d248a9-7677-43ab-9c46-83593b84c0bc CLINVAR:51487 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb677cd3-657d-4024-b381-e902aafae6f4 CLINVAR:51487 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b960a2a-184e-41d2-a08a-c478946569c0 CLINVAR:266759 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48ae2252-ab38-45eb-a6a4-28a9b8e6ddcb CLINVAR:266759 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dcffa1d0-c916-48b5-92ad-412abcdcbcfa CLINVAR:51489 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffef4cc3-ddbe-4e06-84e0-8405fc9e4f94 CLINVAR:51489 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3b4070c-abc1-4a0f-a54b-569bc2333139 CLINVAR:254518 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fad2844-9717-4dce-b0d2-31a456e55b87 CLINVAR:254518 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed52f1c3-e43c-47c7-a9ed-b85d18ffedb4 CLINVAR:51491 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bb5535a-d988-4845-a9fe-55d2b1806dda CLINVAR:51491 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd4a109a-d03b-4def-ac3b-5b50ed04991f CLINVAR:266760 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39f3d02a-0ece-4c47-bd39-5cae4b835d4d CLINVAR:266760 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b625340c-0c8a-4a05-93f3-33e9708c93b5 CLINVAR:51493 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea1783f6-feb4-4f71-90f9-8559e743578e CLINVAR:51493 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15080571-733a-4e5e-a6f7-2d997fb9952d CLINVAR:254519 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ab369e7-ea7b-485e-b1da-5be8773da917 CLINVAR:254519 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b3b895b-b191-4dd5-bd98-3ffd539bdd7c CLINVAR:266761 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5e022ad-8ef0-4dc1-acb8-e12a0e545aad CLINVAR:266761 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1332c154-811e-4f78-aca1-f94f38229656 CLINVAR:266762 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1cae8eb-6c31-4d85-a939-39454b8aa72d CLINVAR:266762 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38c3de25-9d5f-458e-9949-40b9746a8cbc CLINVAR:232261 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09706adc-a01c-42b9-9b3e-583096b03b34 CLINVAR:232261 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f03165fd-0b64-4c30-bf26-03fa36790754 CLINVAR:266763 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afce2996-a9d9-4521-90ad-5686dc2338ac CLINVAR:266763 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16a6d1a1-9db0-4f7e-a195-4af78c7394b3 CLINVAR:254520 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65181930-6b83-4144-89d0-10dbec27296e CLINVAR:254520 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f9b0e37-fb64-497a-8cd2-d8dd2cff5e93 CLINVAR:254521 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1fd269e9-5816-4e87-abc3-61db430a74a8 CLINVAR:254521 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8bcf2614-dd80-4a59-b662-06a9cef5a4d6 CLINVAR:51497 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2a24f8f-2f2d-4806-b465-f252c0e607ed CLINVAR:51497 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be2831bf-e1da-473b-9803-ccdaef13f673 CLINVAR:162105 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 091b0c4c-fd57-48cd-93d3-86a3a3d943e1 CLINVAR:162105 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df9a7aa7-6a5f-45ab-80f8-37f72db9f4b3 CLINVAR:51498 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbed4c33-5b40-4446-9d84-50c8256ec044 CLINVAR:51498 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0abcb156-89b9-4cd1-b0ab-de05debce507 CLINVAR:418080 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd56af9e-3a23-42f5-b9af-36a792349185 CLINVAR:418080 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71e4a06b-af9c-4329-aa0b-359d3db1a97e CLINVAR:219514 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00d21363-57eb-4918-8f06-d3ac6c99169d CLINVAR:219514 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5ee3e75-019a-48a1-9f41-95bc7f2c23c3 CLINVAR:51504 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f34b69c9-e34b-4be3-ba89-4e4b5e0eda2a CLINVAR:51504 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a4362c0-edc7-4551-ba41-4ba2c77e1b02 CLINVAR:51505 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41a8c008-d715-488d-af1f-60b590316b2a CLINVAR:51505 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db39ee3a-0d04-4804-b9f1-ebb061f8c65f CLINVAR:254522 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb0f01f4-a9de-46cc-9707-459c65118644 CLINVAR:254522 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e8adfe1-e3c8-49a3-b416-4a17844e10d4 CLINVAR:433780 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e235adbd-3e90-4589-b529-a813494acf86 CLINVAR:433780 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c63f27b-8744-495c-bee7-78b6d7e9b645 CLINVAR:266765 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4db92b72-de61-4b78-b63f-1043db1503c3 CLINVAR:266765 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0058b14b-a261-4f97-b7e5-d07405855ffe CLINVAR:51506 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e4c8409-7d11-4f7d-af80-a5173aa2d2bc CLINVAR:51506 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa9a90df-608a-4cd6-9155-eb09d94c2539 CLINVAR:236855 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d82ae2e-3c08-409f-9a68-27ac46f5c9e9 CLINVAR:236855 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9895c1ff-acd7-4ae8-b097-6462c8935864 CLINVAR:224523 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b4e7a33-b7cf-451f-b270-c3ef5fa1457c CLINVAR:224523 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa36586a-165a-4b99-af79-b8817e253f2a CLINVAR:37853 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3b8260e-b4e8-4a86-be6a-89f1530e8642 CLINVAR:37853 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd83b7e8-7a69-4a65-bce7-d4926191ed6c CLINVAR:91805 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 742556f1-ae25-419b-b994-97ac0ac109b1 CLINVAR:91805 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65f77cc1-4802-4fb1-bb49-873a9333dff9 CLINVAR:441458 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ceb7258e-6e1d-4f69-9c48-aa388c074b5c CLINVAR:441458 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0221bcac-2612-40fe-b98b-3cb4d83a4a34 CLINVAR:37855 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b76c19d1-f010-44ef-ae84-5b0752b1a720 CLINVAR:37855 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89665427-a7e9-4e4a-8394-8ba927c3ccd5 CLINVAR:440430 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16fd35a2-76de-4e3a-bf48-7fe66084576a CLINVAR:440430 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 357116f7-32f8-4606-af3f-355f520b8729 CLINVAR:254523 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 590fd349-5b63-4119-bf8d-ca8fc720b0bf CLINVAR:254523 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a58cfea8-6378-4dab-9efa-16716580752c CLINVAR:266767 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c75ad287-2cad-471b-a073-41fc8c69f788 CLINVAR:266767 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 70595046-506e-43c5-9d1d-05e980d7f774 CLINVAR:266768 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1b7c337-120a-4092-97e0-bc3088cd8d33 CLINVAR:266768 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2090abeb-c970-4919-8afe-405fc368b707 CLINVAR:51511 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a6e7287-47af-4254-8205-6c0589663c34 CLINVAR:51511 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27ade949-099c-40ba-abec-06c003dd765d CLINVAR:266769 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c24bb23b-aedb-42e3-8e9f-66a459ec3556 CLINVAR:266769 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5eb0219-a98b-478a-854b-f3a5ea847e58 CLINVAR:51512 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 886c9c97-65e8-4056-a4b9-bdda88976f41 CLINVAR:51512 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 832bf32d-bd8f-4e8f-b60e-65fb236437f6 CLINVAR:266770 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3e1112d-cbe9-421a-9a50-0d5d7f1eff07 CLINVAR:266770 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c66df56-1001-4544-8884-bb230ff60c10 CLINVAR:266771 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf8fa201-fbb2-49d5-b928-a17401c54e47 CLINVAR:266771 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b6a057c-6f1f-4209-a59e-518e183afab7 CLINVAR:37856 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06c3f6bd-d739-4d21-a672-4a914c230200 CLINVAR:37856 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90688804-e90a-49a9-b8a1-af464d47db24 CLINVAR:51516 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d46d644-1104-4caa-b779-d06f926853db CLINVAR:51516 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68becfc0-ca9d-4580-acec-5235faa2a42f CLINVAR:51514 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 135718ab-2c1c-4ddb-8194-2ad9ea0f783a CLINVAR:51514 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2c7266c-f5f0-499d-9a36-d72264f497a8 CLINVAR:51521 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba38e279-a8cd-421c-959f-4e1dfe5ed98b CLINVAR:51521 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63cd0e31-d4bf-412a-b078-46ac584f7212 CLINVAR:51522 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8ac6af7-4912-46e6-8688-68633e6ae7cf CLINVAR:51522 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1139655a-b377-4848-80fd-2505f1f0c84a CLINVAR:254524 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db3d4460-1907-411e-89ad-a82b44ad3b7a CLINVAR:254524 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96fffcb8-7e50-4376-ad84-cf9850792d8a CLINVAR:266772 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bc941fa-be57-4166-b1ed-9aa2e6dc50ca CLINVAR:266772 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e568bda-9364-4fc5-97cf-e82af494f7f1 CLINVAR:96798 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f33ea8a-59aa-4e87-a1bb-fb945edf0452 CLINVAR:96798 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a585d754-9451-474f-a983-90a5bff45ec7 CLINVAR:51523 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87d9a4c4-9942-4336-8719-0c9ccb677ab9 CLINVAR:51523 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0dbaba6-c42f-402d-a068-276ff47e1447 CLINVAR:51525 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14e766e4-1396-4686-acd7-b801d87cf4c4 CLINVAR:51525 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 40a90596-c4b0-4ec8-ab4d-b07d14d8f07c CLINVAR:254525 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bebddd73-2ad0-402b-951a-939598059b2f CLINVAR:254525 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cee86384-7ec8-4e5c-b792-536ea72abcf9 CLINVAR:51529 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3aba2ad-43b8-4f92-a26b-c7040354685d CLINVAR:51529 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b259950e-b98a-48cf-b445-2a9c0cf83fcc CLINVAR:266773 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c8e433f-0b55-44de-b5cd-bb8b78210272 CLINVAR:266773 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a65b703-a9c9-447c-9969-1f3085355e7b CLINVAR:548435 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43470228-07ee-4c97-9d44-bd23b6313f7e CLINVAR:548435 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c810234-aacf-442d-82cc-3bf1d8c1817e CLINVAR:266774 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed1e2568-1a7f-43db-b639-dc0623035460 CLINVAR:266774 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64743b99-6096-453a-a8cc-6872757aeb14 CLINVAR:266775 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b135711d-35f1-49d9-bc5e-77ee707c7d4f CLINVAR:266775 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e58fa481-c65d-4756-ad4f-65465863bad2 CLINVAR:182327 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df1788dd-6331-46e3-a1a5-dcf0d76f2d9b CLINVAR:182327 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 982a0702-450a-4a92-83aa-53731867fa29 CLINVAR:51532 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5087a389-0568-4703-b947-bc4c44356364 CLINVAR:51532 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ee379dc-42cf-4d8b-ac8d-117659bcad84 CLINVAR:51533 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae411293-fad2-485e-91e9-199d87645c16 CLINVAR:51533 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91017350-21f8-4651-89de-c0264185535b CLINVAR:266776 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fbb0cdd-9918-4102-b166-e0d3268d419d CLINVAR:266776 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a78a5d5-7e69-47d2-a6b5-2a2a14991c27 CLINVAR:224445 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90ba901b-c8b1-4850-9652-2b94c3b812ad CLINVAR:224445 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11a99ab0-e5ef-4d8f-aabc-221ed5569afe CLINVAR:187186 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1643e9a2-fb12-4540-83e4-b711f188c566 CLINVAR:187186 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f63c7dde-81b8-45d4-85a4-e0696d0a3faf CLINVAR:51535 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fed6ee4f-2953-448c-8d70-a849f1d5dc70 CLINVAR:51535 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f117c340-d0cb-43da-b88b-5708185d2866 CLINVAR:51536 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe679731-9799-454f-bbbe-dab9e7498183 CLINVAR:51536 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd8074ed-b3c8-4b0e-97ea-60bf60288260 CLINVAR:37859 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bdac1dab-9558-4c4b-ae26-beeb05e9b8b2 CLINVAR:37859 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38f41cfc-0451-4ddb-9fda-b92dd7993b60 CLINVAR:51539 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed4b01e3-4224-47c7-a111-33f9a59227ff CLINVAR:51539 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78375b33-6d86-49a6-83ae-b59ba7297b18 CLINVAR:51541 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 003c33be-5c38-46ac-aa67-46a72edad32d CLINVAR:51541 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9a5a225-3779-47d1-a69c-84b8369543d8 CLINVAR:37860 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48169389-5bd7-484e-a13c-f77843537f3d CLINVAR:37860 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67025d79-d828-4369-b88f-73fdb32a4840 CLINVAR:254526 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d82da0b2-2991-4d68-ab3f-154dada2dacc CLINVAR:254526 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27c40ae5-503a-468d-b680-8d4126ea8fcb CLINVAR:51546 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7ceb39b-c4cb-4b32-9cc4-c4d2379177eb CLINVAR:51546 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bfbfc549-32bf-4ed2-b375-ebbf3404ac7b CLINVAR:51545 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aaffd4ad-f642-4224-b519-879a11089917 CLINVAR:51545 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf20bc7c-e650-4d4e-8df7-ec5fce6a0bae CLINVAR:51543 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a60048c-15b6-4f86-a63e-4e65884bd585 CLINVAR:51543 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99d03955-601f-4363-9b46-aacf9e1692fa CLINVAR:254527 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05c07023-b31a-45f3-bf0a-0df1f49d9088 CLINVAR:254527 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 132c2ba7-7ca5-4b0e-9429-55e7cf62eaa1 CLINVAR:51544 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6dba78c-74c9-4653-9276-20b43d11a19d CLINVAR:51544 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c81c84c-7e2c-440a-946d-729241360292 CLINVAR:266777 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 845fcbbb-2ef6-48f4-b4f0-b46f71b9c0a4 CLINVAR:266777 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 739a862a-9dc1-4ac2-8373-edb0d6ce0519 CLINVAR:51548 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f2db645-748e-4105-9f88-45db8645a907 CLINVAR:51548 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8052412-ec5b-446c-b3fe-7cb2054c1078 CLINVAR:37862 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e12dcef-227a-4df3-ada5-b4b30a2a85c6 CLINVAR:37862 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b18e269-3262-455d-b471-ea10115db4e4 CLINVAR:254528 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfa79112-e261-40b8-8d2d-7b96705de7aa CLINVAR:254528 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36972316-f39f-4643-9526-2fb2a73eb759 CLINVAR:266779 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d30ce8b-36e8-4ffe-a68b-11831d1100aa CLINVAR:266779 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22ddc391-c8ef-4fb1-adf8-261f58b5c2c2 CLINVAR:51549 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34344472-9486-44e9-b8ae-30245c19fffd CLINVAR:51549 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6be0d18-be3a-4151-8f8e-ec6902beb32d CLINVAR:441397 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c78c7fcf-437f-4d28-ae12-dc5ea4ee091d CLINVAR:441397 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff8d1f71-8ae6-46af-85d2-8127596ef010 CLINVAR:266778 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c4d8081-e223-4073-a03e-79daa65fc8ad CLINVAR:266778 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a8088c0-556e-416f-946b-b68690afc7d7 CLINVAR:51550 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70151278-a0f1-4a01-889d-a6bdef60e486 CLINVAR:51550 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03f1ca98-f501-4707-8fb3-5bab1179c079 CLINVAR:91809 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd559a48-0bd3-401c-9c08-37926c6eb689 CLINVAR:91809 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0768b9dc-f442-4bc5-91af-0d887a1c85ee CLINVAR:421118 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cffa2e20-ed30-4b6f-8842-cd27c4a1471c CLINVAR:421118 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1951b58-c80e-45cf-9b67-d879ccc7d1c0 CLINVAR:51551 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f02a6f7-a212-4b9e-b5e7-f7f56c82b128 CLINVAR:51551 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ffc9783c-fa6f-4613-8d0e-55823e94871c CLINVAR:266780 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19242356-48ce-4c37-8b88-c3e5de4041cc CLINVAR:266780 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18948c6f-e353-4967-b891-b7ea62a11466 CLINVAR:252424 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9dca5d98-a56f-4cea-a523-78d75a317e9f CLINVAR:252424 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9296907-add0-430e-8c80-1e8b3c07df84 CLINVAR:51552 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50cf98ce-479b-4866-b765-4bc287a925e6 CLINVAR:51552 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 446920f1-12d5-4fef-8392-eeed195e1ecd CLINVAR:51560 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7325f30-0df6-4bd4-9253-fd7eb9bade65 CLINVAR:51560 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f83ead06-d123-4368-8f89-398e19d0d35a CLINVAR:51562 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a8d54be-2f14-48ed-9144-a9c407470c43 CLINVAR:51562 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 986b5beb-1f9f-4a6b-94d7-b9843f0c1085 CLINVAR:51564 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfa39004-49e4-4090-9760-0a675559e398 CLINVAR:51564 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae0c2583-6329-49d3-ab76-289ea8636b5c CLINVAR:266781 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5bef601-aff5-4b18-8100-131c61b43b69 CLINVAR:266781 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fdda5be-1d78-4750-afba-c92c14853d2c CLINVAR:37867 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf618bc1-9d48-4a6a-8d66-034f33e8debe CLINVAR:37867 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0da9e22e-d1cf-4fb8-aa57-a50ed877617b CLINVAR:51565 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d3c5eff-93a3-40f1-b846-4190f2b8140b CLINVAR:51565 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6859d8a0-cbde-4178-928d-188559b38f87 CLINVAR:51566 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fecd9e42-65f6-4b7b-b8f0-650ae0ae6a67 CLINVAR:51566 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25e4f456-e212-4e17-9ef0-fc6542f39fe3 CLINVAR:51570 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2cfda29-0ba9-4a54-8db9-ec4e28ca6279 CLINVAR:51570 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 317f538c-1db7-4b9a-9d67-7f99ca715b41 CLINVAR:51569 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ec72d23-5f9c-4fa6-981c-924d8dcde8be CLINVAR:51569 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8097fab-0d4d-4302-8973-fc53767d38c7 CLINVAR:96801 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1e80a2a-1c4e-40c9-8b5a-6e8d601afb8f CLINVAR:96801 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a50b45dc-c864-4b32-8bec-8845575152b5 CLINVAR:254529 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4201c72d-f725-4a06-bbe9-707a5100e34c CLINVAR:254529 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b6bd332-7881-4ffb-b5b5-2a793a8502de CLINVAR:266782 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb9fd900-e4da-43ba-9462-dad37202abe7 CLINVAR:266782 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36f22ea5-c73a-4461-8ece-ce5f031c4eb2 CLINVAR:51573 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3db04a17-369e-4994-9577-b15a15db0fc1 CLINVAR:51573 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4eadbee1-3345-4aed-b20e-dca237619b46 CLINVAR:266783 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4c88962-2e0c-43e5-8993-22f723bd4aa7 CLINVAR:266783 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8bcbed0c-9f34-4905-9494-81d020fb04c4 CLINVAR:51577 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc62ca61-f6df-4cdd-b58f-8df8dd8d9d93 CLINVAR:51577 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e9542cb-04cc-41c6-9060-2c3ff21529f2 CLINVAR:266784 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d275c3c-e960-42ad-80e8-fda60a1051c1 CLINVAR:266784 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f69b92d2-14ee-40b3-8a42-7a02c4100ff5 CLINVAR:266785 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7e6e383-801e-46e8-82b2-e4fa5b267402 CLINVAR:266785 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc155016-f864-4851-bcb4-e73a0a34ec9a CLINVAR:51578 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93c59a0d-7125-47c5-94ce-f54ecd6ba0b9 CLINVAR:51578 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd27f094-28c6-4074-a0e7-15cb1212726f CLINVAR:266786 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db02d9a6-363f-4066-9fea-789390f78f36 CLINVAR:266786 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99ff8d2d-ea65-4a54-b005-0d4f6659000c CLINVAR:91812 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b08feec-a04c-43b6-9b01-b4f947531b61 CLINVAR:91812 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b788db5d-ca7b-4792-8a88-8dda21186573 CLINVAR:51580 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a905e1f-bd51-440c-9330-601d2ff14f7e CLINVAR:51580 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f621031a-6c89-45ef-bec0-0679e5e3d19d CLINVAR:51581 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e604fc7-9dae-478d-844f-e7ebdede3aea CLINVAR:51581 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91c9e929-5f21-4fdc-bf85-ea13326f8510 CLINVAR:233112 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e16bd421-d67e-47e4-befc-be4a205c0be6 CLINVAR:233112 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2240f9f-1163-4364-b376-1514554e6776 CLINVAR:126031 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbc5e678-e2e4-416b-8355-e4914cbdc4d0 CLINVAR:126031 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa14e818-f7f7-4257-9468-9158b8ee3ce6 CLINVAR:548352 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eadd7d62-33ce-4378-99b0-358cdd05aac9 CLINVAR:548352 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3c77d48-a855-4117-bc13-46bbedaa7e48 CLINVAR:236860 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bcd5a8c-bb08-495e-a6fe-5e250db89e1a CLINVAR:236860 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1bb2c5e7-218c-4167-80e2-e7634634f649 CLINVAR:126032 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b0b77fb-f685-43f4-9e66-5233925ab701 CLINVAR:126032 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee15d1db-b3fd-479b-abec-7bc70d31fc8b CLINVAR:548428 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c947afa-1627-4a8b-ba88-9a1ff23e36c6 CLINVAR:548428 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6537b89-0a1c-45a0-9839-f25c788fa5d1 CLINVAR:37873 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bdc98ad-76db-49a7-ac33-3c015826a532 CLINVAR:37873 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f84c3d3c-84fe-4a66-be19-73d4e5a5ff75 CLINVAR:126033 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd21a533-2cd7-4ce7-9578-2a3fdf7cd90f CLINVAR:126033 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5656236d-93a9-4cc6-845c-e7037a57b127 CLINVAR:266787 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f96130fc-c590-4d7c-8514-e26280af5ac4 CLINVAR:266787 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b49f1e3-64d8-4d4f-b093-a3b61ca74f0b CLINVAR:51582 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c06740e-8585-499d-9a12-a209974f7929 CLINVAR:51582 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04e1f01c-b599-496d-960e-5e361aae9f8c CLINVAR:431307 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eee6d68e-21bd-4ff9-804a-76877328688b CLINVAR:431307 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17547c82-9f07-4ad3-bdc6-5c030ed40634 CLINVAR:266788 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe5e4326-d2ed-460e-8c81-ceb3f3399b0d CLINVAR:266788 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63f28eeb-a430-4005-8598-c94362df954e CLINVAR:438976 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 989cd3a1-4bdc-45a7-85e3-f123aa6c71f5 CLINVAR:438976 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 382ea2ac-adf6-4c1e-8f27-1f4e3a4767e8 CLINVAR:51584 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8db0e55d-9e5c-443d-abf1-ca1d03788fe8 CLINVAR:51584 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0e544dd-3d3b-4764-b90c-fd233ee8d421 CLINVAR:254530 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07e2c0c1-ca4a-43e0-8c3f-ac13be70d4e3 CLINVAR:254530 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 280d50b8-c12b-4e50-a7cd-0980accc6da9 CLINVAR:126036 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e97763b-c503-466d-a652-a7e3c84f615a CLINVAR:126036 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 249eee0a-b32d-46f9-af6c-25d3101a26c5 CLINVAR:51587 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08a07b85-fec3-40e1-b9ee-d5fc1ea1ba5b CLINVAR:51587 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 887573e4-df12-4d3e-9001-669cf23ee1d9 CLINVAR:266789 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c446cf59-3cf7-4f30-90e5-4362ad014974 CLINVAR:266789 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81530bd2-92d7-479c-95b9-06ee4cfd74c0 CLINVAR:37875 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5192566c-5e5a-409c-842b-4f148a5f9e16 CLINVAR:37875 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 589fb135-bf40-4427-8e90-e76dd3212500 CLINVAR:51590 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48c0aa30-fda9-4956-986b-d134f37fb171 CLINVAR:51590 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d28b836c-26cc-490c-844e-cd0334ff4c1f CLINVAR:96802 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b5afc87-9011-4c2a-bc8f-481303e1e10c CLINVAR:96802 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b934ccb3-9c80-4ebe-b1fc-34edbae918e7 CLINVAR:37877 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd37c763-1a92-4276-bd84-a26ccbf535a6 CLINVAR:37877 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f659b34-b0ef-408c-b7aa-dd11dd18db08 CLINVAR:266790 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a368f74f-799e-4ed4-bd67-faee5f94ace7 CLINVAR:266790 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab46cea1-7286-4dd8-ab04-92480b671399 CLINVAR:230007 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0204dc4-05fd-4572-ba3c-496ff759d47c CLINVAR:230007 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90c8a265-d1a8-4cd1-81c8-d71fe500c26b CLINVAR:548367 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25a2b331-6cea-48aa-9285-ccdfb95ace35 CLINVAR:548367 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46385d9c-0df8-45ff-96dc-28a904cc69fa CLINVAR:51594 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ea861e7-b407-49a7-a36f-275edb77eb90 CLINVAR:51594 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe0d03bf-52e3-4b92-91be-0180d0651e75 CLINVAR:51593 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c7b3339-32ba-4c18-b40c-5558d5a76cd3 CLINVAR:51593 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb012a88-baab-4505-b699-737a02d219ab CLINVAR:51595 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a621554-a8aa-45e6-aefc-7302ea3ed6b3 CLINVAR:51595 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 777759a5-30ad-4c94-bf3c-3d77e8d9bb4d CLINVAR:51597 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e80bf25-03c1-4558-b82c-2a713e2724ac CLINVAR:51597 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87185572-d407-4e36-aed2-d71531fc99b6 CLINVAR:266791 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88af3cc8-50a6-4db9-b9dd-f2c27eb67180 CLINVAR:266791 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08315966-e02e-470f-8795-8baf98fa1802 CLINVAR:51596 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 832732cd-f6b3-40b9-a5c9-2ee1e6088893 CLINVAR:51596 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8dce27dc-2979-4e33-87ed-ae47c1ecb5cf CLINVAR:440456 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eccf19a6-a807-48a4-b570-34d93ac5a79d CLINVAR:440456 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3bc92dc-049d-4a19-b957-a6539ddf5659 CLINVAR:182313 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c35229c3-5263-4746-8bbd-6b271514f6e2 CLINVAR:182313 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b3785d5-e5e1-4d98-82a5-cbb715efc7ef CLINVAR:51599 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19820e5f-8392-48ef-b1d7-d6cb9698bc2b CLINVAR:51599 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f0ee675-69cc-4bed-b436-633e27a52076 CLINVAR:51600 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44c8b146-0978-40f2-822e-63bc491b5d4f CLINVAR:51600 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c5f256b-fa1d-4fe5-b6a9-1e0287258670 CLINVAR:266792 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1bc3091-0125-4818-8f0a-9f065ff8084b CLINVAR:266792 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04116630-11f0-4cc5-a570-ad2c2ef6fad5 CLINVAR:37880 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df29c574-75ce-47cf-86dd-1a65b831d858 CLINVAR:37880 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc2fb4d1-ab1f-4b70-b718-49bafe288ee4 CLINVAR:51601 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b04aef50-c06a-48e8-9ac8-d32bcd409e4e CLINVAR:51601 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 825ac8db-865f-4a34-b25f-d10e91d47312 CLINVAR:51602 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0207abe-87ef-46c7-8b3f-312b9a22e334 CLINVAR:51602 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96b08a0b-0c74-49ec-b913-5667234d3855 CLINVAR:126037 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c02a402-5623-4812-a2df-f10465c35c7a CLINVAR:126037 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1430e77-fa64-49c4-9918-694f9ddb5555 CLINVAR:441521 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8c32b7c-8f7d-4a20-badc-37b06ab531ef CLINVAR:441521 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 610f786c-494f-402c-af96-4470bac61762 CLINVAR:51603 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d0876c0-65e1-4465-91ae-03c99059e235 CLINVAR:51603 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4a02433-5c65-4a37-992a-4a6cc92c62bf CLINVAR:51604 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4be3fc5-0a20-4506-bdc8-65289c6659ad CLINVAR:51604 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17be60ef-9d81-4075-ae4a-0e59f23723b8 CLINVAR:51605 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 691e3a60-98ca-47c4-9a27-476379cf3756 CLINVAR:51605 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7bb5dc02-2f10-44fc-81c8-a2eacad3692f CLINVAR:266793 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 487023f0-0772-47a8-81ab-177484d90381 CLINVAR:266793 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1fc997a7-316b-41d3-80b1-3b9989476eba CLINVAR:224441 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2234491-6d6a-480d-879a-209f6dd0b62d CLINVAR:224441 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f8e6095-7c73-4f53-bba4-f539153066f8 CLINVAR:51606 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee81ed2b-3652-4fe7-8aba-06578b18d1df CLINVAR:51606 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91f65a91-4fbe-476a-90d0-2b7747110d34 CLINVAR:37884 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77728383-3acb-4ab5-9659-b7511ee1b33b CLINVAR:37884 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e0d6fb3-298b-4894-a0f4-65579babaafc CLINVAR:254531 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc34edf4-a4d1-4889-96c7-4350eb17a144 CLINVAR:254531 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4498c31-f8e2-4e89-b9fc-5094c617db98 CLINVAR:548397 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc476e45-79fd-4527-a2ca-4addc151d8ae CLINVAR:548397 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2370591-de70-4b4f-a307-1e9f01806bc5 CLINVAR:254532 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c62f52b4-34ca-4db5-a77c-ee8e355ba38f CLINVAR:254532 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8812eb90-167a-4351-a81f-f42f8a630ec5 CLINVAR:266794 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c17e185-68fb-4c43-b692-e23a1845da69 CLINVAR:266794 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 432b1b27-1029-4b50-999e-eb490d7406c3 CLINVAR:37885 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78a2323a-a33b-4cfc-a04b-6374a1be302f CLINVAR:37885 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67b2b622-8519-4ec7-8852-c54d8dbce748 CLINVAR:51608 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f93180db-6379-4f1d-99a6-c6d5726645d9 CLINVAR:51608 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7e58d7f-ba78-47a5-abd6-8e0110991c06 CLINVAR:182314 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87df69b0-cc01-48ae-9c9e-a574ad240fe0 CLINVAR:182314 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a71b7363-eddf-4491-8d5d-64e52ce16e3b CLINVAR:51610 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71713dd1-7890-4e4e-862d-8790ced3e091 CLINVAR:51610 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d6cdbb9-7abe-4c43-b545-6ed3efdbcec9 CLINVAR:236863 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aff30b53-bd8b-4a47-9e95-109a7c42ac6a CLINVAR:236863 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5548b6d9-7283-4c72-9181-40f15ef6da57 CLINVAR:216853 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eda8ec6b-ae5d-42d1-8b6e-3afbe51876fd CLINVAR:216853 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fb41e58-287c-462a-8c42-a788a21e14bc CLINVAR:232764 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad0c58df-d8aa-4fa1-bffa-e74671ce98f3 CLINVAR:232764 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b45070d6-2023-4986-8d19-8ad16af9a8d2 CLINVAR:51612 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 132426f1-b751-411e-bbb1-a3f56670c485 CLINVAR:51612 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8a7bee4-8a8f-4fe4-8e0c-7c27b9044c6e CLINVAR:186940 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2407d09-367a-43dc-b4ba-160cfccf852e CLINVAR:186940 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a552958-1469-4313-b756-63739ae0d1fd CLINVAR:91815 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 321df6a1-0796-4031-b1fb-bb1f31d6bbfa CLINVAR:91815 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58f1e6eb-6b54-4978-8362-fd31d40337fc CLINVAR:266795 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64f51b7c-acfd-4ddb-ba76-4b929f158802 CLINVAR:266795 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12747bc1-90cb-4a40-94b2-0b1ef5c52e83 CLINVAR:51614 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5e21eea-4349-478a-8f9a-9e27a39bbade CLINVAR:51614 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96258516-22fb-416e-bb52-3751c9431978 CLINVAR:266796 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c580dad-5c6d-48ff-8ba5-bb3014b775a3 CLINVAR:266796 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d226d2c0-dfb0-4109-b045-d50fb149a0f3 CLINVAR:37889 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ba1cb0d-6642-489c-ae27-d8023eff4fcf CLINVAR:37889 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 563deafe-d9e2-405d-9ef1-93e21a763a1d CLINVAR:51615 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be75ba34-dc9d-4e77-a657-1292a4327420 CLINVAR:51615 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c25079e-edb8-4606-8ad5-8a8a33b1c155 CLINVAR:379540 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62e77198-9d20-4ec0-ba9f-7687ad233561 CLINVAR:379540 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c823f8d-8cad-4753-ad39-af5baaabdabe CLINVAR:252830 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0207cd51-771e-4585-92be-055bd5f0790d CLINVAR:252830 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dcadcf89-1c0e-437a-851d-836e53a48989 CLINVAR:266797 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0dd9cd36-ca18-4897-88ce-485d8a37bfdc CLINVAR:266797 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc0c2294-5092-4f78-bf2c-db163d5bdbc1 CLINVAR:37890 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cb4f0cd-0c59-4f2d-bd0b-a582bc202532 CLINVAR:37890 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6af9015-7ba4-46a7-a6a1-7818ba5f5cd2 CLINVAR:232359 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a8ccf97-189e-4b8d-b0cb-2a196631df7f CLINVAR:232359 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b40e448-8c4b-499f-98ab-045c6e822184 CLINVAR:185745 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6a15196-e77f-4427-b305-d860fe819961 CLINVAR:185745 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a577a23-aaf1-47be-9f84-c8d246f8e7e5 CLINVAR:254533 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71d32f83-0c0f-434b-893e-d07e70552224 CLINVAR:254533 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4911c78-536d-4247-b7d6-950a3f76cafa CLINVAR:51617 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38c0788c-2b57-42e4-b5f3-d2d7274395ac CLINVAR:51617 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2fc18c60-bc10-4c24-87e0-e9b21dbb79fb CLINVAR:419134 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14d306a8-2d7d-4ae5-a395-c7c226787081 CLINVAR:419134 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0226b05-8c9e-4ee4-a6c3-ab5bc53eb9dd CLINVAR:266798 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffb7be6b-1b5b-48dc-a61a-394d0f58c7e4 CLINVAR:266798 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eae70ea6-c15a-4e61-bb91-d91081d6b918 CLINVAR:51624 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b0743dd-bebe-47c5-8523-d736c26f38a6 CLINVAR:51624 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b3d4838-d057-4d12-93a6-1b7380d878b1 CLINVAR:409487 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e80cc4e-c86f-41d9-8de0-8cde5d4ea698 CLINVAR:409487 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14a31cc3-5625-45cd-8d29-04cfb0dd52c1 CLINVAR:37891 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e91d02f0-804c-4528-a9c8-4a08655afc95 CLINVAR:37891 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 476ebeae-1496-412c-947f-b61921a4c412 CLINVAR:182315 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96451976-23dc-4f0b-8e72-b8131288a7a7 CLINVAR:182315 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac55019b-0a92-4f41-b661-35a725806ec5 CLINVAR:37892 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b75eed88-4164-42f4-b5de-9389b3d035e2 CLINVAR:37892 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff86702f-9e2f-4050-ac1c-46b4fe657eb0 CLINVAR:266799 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4679183b-d66f-44b1-9a66-3411af0fd70e CLINVAR:266799 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 95a3e3fb-0525-4d9d-992d-2455536a447c CLINVAR:51627 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea60308a-f4d3-4ca8-9c0d-4a5ea814c548 CLINVAR:51627 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a42ae86a-b3c7-4107-9785-792c0227f8d7 CLINVAR:266801 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46c226c9-6acb-40cf-9e84-e0f66028b1d7 CLINVAR:266801 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eefb144c-8de6-4cad-ba88-fc4866490e2e CLINVAR:266803 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30784673-d0da-42de-b964-8eee28f81f28 CLINVAR:266803 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de52dd26-b956-40f7-ae8b-98901a6f28dd CLINVAR:266802 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4d7f51e-fcc9-410d-be51-82efbd5f2296 CLINVAR:266802 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4ea1b1a-c85e-4b9e-b24d-bec76d53092a CLINVAR:419879 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21d1c078-1287-4fcd-80ce-8142a34fc77c CLINVAR:419879 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7056ccc-fde2-435b-aa04-4ed2e6668340 CLINVAR:51629 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f86345ab-b792-457c-a649-e569b0bad535 CLINVAR:51629 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d73f2fb6-181a-4263-852c-161832936f76 CLINVAR:37894 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd02abb6-487b-49e9-888d-7ba8716990ea CLINVAR:37894 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf74abbb-e57c-4213-867d-873cfcc73b81 CLINVAR:51633 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d6f214c-ba90-4f3f-914d-0f59664e7109 CLINVAR:51633 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 527348e6-dd22-4760-a28a-9eb302fab0b2 CLINVAR:91820 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e74802af-6a3f-4537-8e15-a5364f94755a CLINVAR:91820 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 478929bd-549f-4a8f-a3d8-7724a1d03c07 CLINVAR:266805 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54cd93b0-8c0f-4444-a9e9-1382f1dd1d30 CLINVAR:266805 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6da507b2-6374-489b-aa06-7aa9dc7f1579 CLINVAR:51634 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar baa1a742-230c-466c-8c77-5399669466db CLINVAR:51634 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4492b6b-406d-4fc1-9b7f-268bb5e61fbe CLINVAR:438978 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3addd1e8-9834-4675-9a74-1afbddffb4b1 CLINVAR:438978 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02989328-a29a-4375-a165-7453ec4ba791 CLINVAR:548434 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae07a7b9-b9d1-4f9d-b834-2aff1a7b481e CLINVAR:548434 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1548263-3ddd-4c3f-ac2f-f4d139240769 CLINVAR:379780 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c310a87e-f70b-4ff2-a356-862a30031beb CLINVAR:379780 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ca94af7-7872-4fba-b299-f2519b29701e CLINVAR:266806 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f2208ac-253e-4ff0-ab67-e280caa0b340 CLINVAR:266806 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5402bc3-7353-4d88-95c6-12f0dcf4c18d CLINVAR:438979 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c85f250-7f6e-4c55-a0e7-d1356f723cd0 CLINVAR:438979 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d687fa8-39e1-4699-938e-65c58fc1bdc2 CLINVAR:51638 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5816ecf5-5362-4336-a18d-8ae6e8977051 CLINVAR:51638 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a765a7c-605f-42bc-8850-675dfc6deb34 CLINVAR:233598 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a982bb7-3496-42b5-a92b-1f2ae02b05e6 CLINVAR:233598 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ea63ba8-3b1d-4077-9111-5d4adac06977 CLINVAR:266807 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50ccf1e1-299e-4bcd-a919-8409a1d08b41 CLINVAR:266807 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a3da62a-11fc-4278-bd72-bf8459acf2bb CLINVAR:236278 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78c7c8be-200f-40ca-95d8-fb21133d89f3 CLINVAR:236278 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ebf7228-9541-4a0a-8576-d9789e4b6bb6 CLINVAR:51640 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fcb98d10-37a3-43ff-88f9-1a98b195415f CLINVAR:51640 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43c16abb-5f2c-4802-a3d7-7aa5b492f884 CLINVAR:266808 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2d83acc-ba9f-4528-b7c5-253ed58d7877 CLINVAR:266808 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbae6957-b7f7-4f1c-97b9-88934ee21ca2 CLINVAR:548412 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adba97db-5b0d-4273-b057-d73728583146 CLINVAR:548412 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2fb3637b-0d62-4484-9110-53c78ede6918 CLINVAR:266809 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 685407d7-5022-4a01-a730-fa883b87889a CLINVAR:266809 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9153dba1-cedb-45ad-956b-4d8644e7d2fc CLINVAR:266810 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3980dfb8-c9d5-4467-a45f-5363f779fc6d CLINVAR:266810 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ef1bcba-1c47-4dff-b41c-a1998257eecb CLINVAR:37899 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7654306b-4c32-4f94-949f-c954f6425926 CLINVAR:37899 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2363e7ff-be3b-4705-9905-f22b8b9cb7db CLINVAR:51642 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4ef15f4-1c71-40d6-8f52-5b87d6cca70e CLINVAR:51642 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4567a1b-3bbe-482f-a771-6e3e38f90065 CLINVAR:51643 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 151f4499-fca5-4e23-99ad-27bf7a8b1262 CLINVAR:51643 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bf285c2-3d22-4a16-84d1-2b730089b39e CLINVAR:37902 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51cffbc8-5444-446c-b044-56a43844841c CLINVAR:37902 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37c76552-5926-43fa-a61e-cd93ae79856f CLINVAR:37901 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7ae8c7b-60e5-4055-b133-4617c79a856b CLINVAR:37901 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 631d81b7-bb6c-4e22-8529-9de3efef2959 CLINVAR:254534 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7953ec05-4d02-4ed7-b753-084848165c5f CLINVAR:254534 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42be11c5-1811-43bb-b01f-4f74bc33bd89 CLINVAR:420191 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88dd8175-9154-4401-a0a2-a58fccb496a6 CLINVAR:420191 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 402644ef-55ce-48fb-bfb4-22cd22986271 CLINVAR:51646 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bce544f0-7268-4c37-b2f0-358f790d39d2 CLINVAR:51646 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9dbcbf1c-2ad9-4180-b4eb-c5b9b94b9559 CLINVAR:266812 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ed51ab9-6e1b-46d0-8e1b-fa0b66d0f675 CLINVAR:266812 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf6bfd1c-9dfa-4393-a77f-ce6972555d4e CLINVAR:266813 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52f4bbc6-e5e3-4e5a-b9d6-9fee62219b33 CLINVAR:266813 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0b60749-9b5f-4381-9328-389e55d328db CLINVAR:51649 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5c5f20d-6a76-42ec-bd95-b2695d771af9 CLINVAR:51649 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d4402af-1c5c-4d20-83af-8408db83ce5d CLINVAR:233953 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbdca696-c383-4bd3-8981-68382dcf1eb7 CLINVAR:233953 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d09836b3-adff-4402-bde0-4d1f87efa906 CLINVAR:37904 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e16f6b2-23a6-4491-836f-592a6ef6a4f6 CLINVAR:37904 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86455a43-6140-4dd1-8db6-09d01fdb22c7 CLINVAR:51650 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0903eda-d146-45c3-934c-0a85e4359be7 CLINVAR:51650 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb894977-7d94-40ee-a4a6-9d4e36da5a94 CLINVAR:266814 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92615bcf-ddff-45d2-91ae-7d6a6ee2ecc1 CLINVAR:266814 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1d4ca86-b508-4c6a-8451-24a001ec1eca CLINVAR:232850 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 256fac5f-838e-45c1-bda4-1d8c1d2b0647 CLINVAR:232850 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 742bd4e0-6b41-40b7-b2b5-1fe4978592fc CLINVAR:51651 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67ac76ba-0d1a-4dc7-8814-18a14aa3e40e CLINVAR:51651 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e40895d9-ae01-461b-ac04-5ab1b8873304 CLINVAR:254535 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d7a346b-8990-4820-9f85-afbb36d48a3d CLINVAR:254535 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fac364f-576a-4e32-9d3b-4f3408730598 CLINVAR:266815 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6441e338-7f79-4ef0-94ea-eb7bb8c22664 CLINVAR:266815 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1a31b82-d493-4519-98ef-be5dad984dcd CLINVAR:37905 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb4cdeee-a75d-45a2-8383-cdfabe7b4c0a CLINVAR:37905 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47cd3f03-9a69-4f10-bf8b-6ffe272bd060 CLINVAR:51652 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfe2cbd0-c436-4287-a67f-abdcdc9f750b CLINVAR:51652 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bfe67012-66de-44e7-bbdc-6650e396e848 CLINVAR:37906 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2193ec6c-9ac3-4293-8b5e-c85474f5a3eb CLINVAR:37906 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b3f5fee-f1d9-4bb5-a8f2-fec1c6a0b107 CLINVAR:51653 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69b705d3-bd1d-47f4-91e6-9b66e7d29348 CLINVAR:51653 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb9bc8a4-8d6a-4f00-83a7-d0ed4f13cc26 CLINVAR:266817 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 299d1683-3ee7-45d9-af45-98c019ad688d CLINVAR:266817 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dee9e421-e153-4576-8e54-ddedbd6ed901 CLINVAR:266816 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 491d5771-52f1-479d-ac6d-9fcd5e150d5b CLINVAR:266816 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e10a8b6b-c00f-416f-a26b-6155bf2445ad CLINVAR:187125 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c038179d-c047-4389-9326-5c027eb2c7ee CLINVAR:187125 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56485324-bca0-4fd1-8a6b-7056b75758ec CLINVAR:51654 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20c546dc-ce36-43d1-a151-62a8f45e9106 CLINVAR:51654 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f00c50f4-866a-48f2-95ce-2f48d0aaa64d CLINVAR:254536 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76c4371d-a4f3-4973-900d-3ca99a0ad7e8 CLINVAR:254536 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a550dbc-077a-4463-b675-dfa932c34330 CLINVAR:548375 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03a3ac48-d0db-4763-adf0-a56f153129cf CLINVAR:548375 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e60eb360-9f35-4742-aca0-cf6c420af551 CLINVAR:216855 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27903261-a2f4-4977-a51b-288d7ab0b541 CLINVAR:216855 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f0a3ceb-8090-4ef1-801b-71dcc69cc02f CLINVAR:266818 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66c1dd39-5d48-4861-a47f-a8e43fd98db9 CLINVAR:266818 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96c4f6e3-4f52-4b03-b659-6fea0a908fd9 CLINVAR:96808 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89019c34-d6a7-4984-aa19-ebd7add613e2 CLINVAR:96808 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c004c2ea-e404-473c-a21f-e5ba9f591f38 CLINVAR:51659 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f94cf1b6-30d3-4c80-a4a4-aa0b4ebf3c1c CLINVAR:51659 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77f56066-f1d6-4628-a8fb-a7b70b1e634c CLINVAR:266819 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b34d247b-bd4b-4eaf-8aba-d249de8ec57d CLINVAR:266819 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6be3a3c6-a305-4031-8c51-b6bacb688d97 CLINVAR:254537 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0a5747c-1a80-4592-a1da-a13ca2819a97 CLINVAR:254537 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f6ca4e9-fe60-442e-8e04-896910c9872b CLINVAR:51662 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 152b635c-18fc-41af-9213-8729160e3f47 CLINVAR:51662 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 560524f6-10a2-4f71-b08e-9a9d41a7c2c1 CLINVAR:51663 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61ef94cc-aad6-419d-a842-fa3e394d23c1 CLINVAR:51663 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a3aa0265-12ac-43e1-99ef-5c6babbff655 CLINVAR:548399 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2baacbc2-041a-45da-ad31-4870ccfb982a CLINVAR:548399 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17f3be26-bffb-4669-90d2-a4cddbb49487 CLINVAR:438981 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f337dedc-cff4-4558-b3ee-1fac1c5582ec CLINVAR:438981 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d019e55e-d0b8-4417-b696-d759a90f553b CLINVAR:266820 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 177e5390-5b2d-4603-9f64-7e748ea54d31 CLINVAR:266820 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1cd89b2b-5180-4ebb-a229-cc71e8163a77 CLINVAR:51666 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83bcd97c-f4f5-4092-88b0-01c4143d0197 CLINVAR:51666 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 430f74d9-d9e0-4729-8a6d-2c95ed5762fb CLINVAR:51667 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19afc80e-6272-486e-a77f-a239832b0a48 CLINVAR:51667 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7dcf5bfe-b13d-44fd-acab-d3930f63f40f CLINVAR:418759 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f0639a0-5772-4df9-b604-7f8f9afdf31a CLINVAR:418759 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22e59d81-2335-4232-9163-c036faaea5a1 CLINVAR:51669 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4155eb25-63b8-453b-9cfd-2badfa1ad44b CLINVAR:51669 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e663ff57-509c-4aa9-8557-162bb37622cb CLINVAR:91822 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51b92972-bafb-465f-a65c-b4df5c6f569f CLINVAR:91822 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b0773f2-17d1-41d7-8e27-ab12bbaf6a5e CLINVAR:51670 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92c93db7-5d7f-42ed-a0e0-ee86540feae7 CLINVAR:51670 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c2714f6-14ec-4f70-900e-30caa924f362 CLINVAR:51671 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 681af5e7-8546-415f-af7d-bfe190c73869 CLINVAR:51671 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39596ad7-7a68-4ada-bd91-0122ab571008 CLINVAR:51672 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2995e062-21db-436a-b64f-6f5d51cbe6cc CLINVAR:51672 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44ba59cf-3923-444c-b8bb-1a323e2d7742 CLINVAR:126049 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f95db20-942c-40f2-888b-f3a8e6967b06 CLINVAR:126049 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6d42e95-a64a-4021-baa1-6f7fcc8817b9 CLINVAR:266821 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7d86b43-7b5e-463e-9848-0e0de27a2e86 CLINVAR:266821 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af2c6c3b-8885-4d57-9647-056e3795e5ec CLINVAR:216856 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 974cb547-ad5b-4c37-ad79-ad630ce08487 CLINVAR:216856 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45a8e7f9-9a4d-49ee-b08b-27815350271d CLINVAR:51681 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d44d6815-011f-4f9b-a9e6-785be32ead3c CLINVAR:51681 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54a3987b-56ab-45d9-bf44-bdfab31bbc8b CLINVAR:51680 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01eeb8f9-43a9-4e05-9113-d1b583bc68a8 CLINVAR:51680 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f5b644f-f5bd-4175-bea5-b63796b7bd41 CLINVAR:51678 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7616cce-cb5f-45a6-91e1-68ce683eb1d6 CLINVAR:51678 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 874e2c7e-db56-4b5c-8523-01e02e570834 CLINVAR:246173 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09b1801d-9231-4129-acd3-a9f6ca9d7548 CLINVAR:246173 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9489b7ce-3e44-4908-a42c-35016c5047c7 CLINVAR:254538 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3685762c-acea-4090-8163-97edc7fcf5bc CLINVAR:254538 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1318db0f-3fce-4add-bd54-d98b05cc48b6 CLINVAR:225717 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14d37e4a-b16e-4037-be85-cc73084093f8 CLINVAR:225717 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc9c8b87-e612-4b83-a962-d8a9a76397f1 CLINVAR:225742 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60157376-2456-41b5-ac76-a7f8538781f8 CLINVAR:225742 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05d9c979-658d-4215-9ea2-53da5c797e7c CLINVAR:266822 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9ea4a28-69e7-4005-977e-b444ed067d9c CLINVAR:266822 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 736d0796-4892-4fcc-b801-8a858afda4dc CLINVAR:37912 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6f8f984-c798-4fa7-9762-72d16a72e728 CLINVAR:37912 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2dafc79-8dc8-4253-9859-c3c338f3baa3 CLINVAR:37913 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a119183c-5b22-47db-801e-d92e77cd44ae CLINVAR:37913 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 606032c4-2261-4dff-9605-0106cfe7b90e CLINVAR:230589 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3536c6df-82c0-4bc5-b527-62ad7b4afd6b CLINVAR:230589 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 40b654b0-237a-47d5-ab75-272a070ab9a1 CLINVAR:51686 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68962f03-29e6-4fe2-b19c-4e85a35d96a1 CLINVAR:51686 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91c85037-e240-42f0-9a73-da1fb80b8305 CLINVAR:37915 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b162595-6f38-4f94-87a8-def13823c28e CLINVAR:37915 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5a7e07f-28d8-4ada-806f-8d9abb217159 CLINVAR:266823 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c577c311-c6e3-449a-bc5d-c4bdc42a823a CLINVAR:266823 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6a49204-2807-4e64-bcbd-0ad83863e130 CLINVAR:51687 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d651567e-5a19-4422-a294-9efc5c13d8dd CLINVAR:51687 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 363ce7b9-9b7d-4a71-95b3-a675bb1ca6fb CLINVAR:9344 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9dda6701-4a61-4c13-8b50-2499aef9c4c3 CLINVAR:9344 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b2a750b-66b3-4ac7-855b-79639e9d069f CLINVAR:234524 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90f563e7-8350-444f-8fa7-f1c5e3c2bd2f CLINVAR:234524 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d25b9b91-001a-4ae9-add0-8701ee7b9c95 CLINVAR:548415 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5bcf9d9-4f04-4a4d-9b74-80b3b73f171f CLINVAR:548415 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfd67203-7f6f-4a2d-aa13-6fcdbf95e170 CLINVAR:420798 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66f60815-252a-4451-aceb-31b99c4ca457 CLINVAR:420798 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b11bd57-6460-4d98-b3bb-925e2c0b417c CLINVAR:51696 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da8e5774-8848-4024-b5ce-1bf48f8daa2c CLINVAR:51696 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c8a31ee-d4ed-409e-b4a9-154f542bc30d CLINVAR:254539 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 190d3db2-455a-4de4-819e-35a0f29f96f2 CLINVAR:254539 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f8de857-2b3a-4dc8-a54a-e748653d0b52 CLINVAR:188309 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5ef6b26-4de6-45e9-b70f-3209ab7adaf9 CLINVAR:188309 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a30ffb31-a811-4a03-9a5e-4be41fe456b5 CLINVAR:51697 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3bd4870-2f39-4dfb-8fe7-3cee25d342f3 CLINVAR:51697 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9f167f3-ed67-49ae-a2a9-eff52b5545a7 CLINVAR:419021 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33ca97a5-b5fb-41b3-8dc8-a95bb1cd9cae CLINVAR:419021 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be9862fa-1226-436b-beaa-50434236e517 CLINVAR:441486 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7826cd58-7cda-4023-83f5-b123c8b454a2 CLINVAR:441486 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37556cf3-84d0-4984-b4bd-a7391b6f6628 CLINVAR:236871 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb381898-486f-4e5c-b4fe-338edf0d723c CLINVAR:236871 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b4a65c7-4d97-408f-a84e-a008e55996d8 CLINVAR:37919 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f22d93d7-de2f-4522-b00a-5f91263a757a CLINVAR:37919 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05684dc0-2121-44ce-ba84-eb0d62620e5c CLINVAR:440431 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fe58935-bdac-471a-bfe9-45046c78424a CLINVAR:440431 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6685ae39-1de5-4da9-a9eb-6b9cb3beae4d CLINVAR:252833 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72e5d30d-8668-4e38-9941-f4c76ab48da7 CLINVAR:252833 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1745d02b-7d84-492d-8ded-8ce276b6705e CLINVAR:548325 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8f64935-ea72-4c8f-bbb9-e5a6852dde32 CLINVAR:548325 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96391785-73a9-472f-9ffd-754876187574 CLINVAR:252834 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd4e35d0-143a-418c-977f-f938c7a5167f CLINVAR:252834 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28db5425-4d2a-4618-9bf2-e490885bf57f CLINVAR:51704 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75ae0511-16f7-4efc-a610-8e53e0aa3c19 CLINVAR:51704 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3300463c-cc3a-46a8-96fd-b31e94caf1d2 CLINVAR:220160 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1032b506-3890-4f84-baa0-7a703acdc868 CLINVAR:220160 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5550b1ee-6b86-4b55-bd66-4b696f3e22db CLINVAR:266830 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf3188d7-1147-4e28-8839-896cd1bfcdb9 CLINVAR:266830 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90415c28-9118-4575-b9b5-68a216e21122 CLINVAR:51707 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4abe2f3-9782-4e64-8bce-7d54ac81db84 CLINVAR:51707 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c98ff0ca-f5ac-4afc-9f23-bea7a520cc86 CLINVAR:438982 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a97e57c-53a7-446f-b013-14fc0bca3bdd CLINVAR:438982 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a919700c-a461-48fa-96af-8da00c667ddb CLINVAR:51713 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38b27c9b-1b6f-4bfc-8806-88ddde1ebce2 CLINVAR:51713 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d84aca5-46a7-45c5-b3d9-5fe033ffc31c CLINVAR:252444 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0390bbb-08f1-478c-a2bc-54784a837e72 CLINVAR:252444 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c5f3013-0d62-45ea-a781-c8eff236efcc CLINVAR:266831 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 946f2456-e7b8-4bc6-be92-a13230f956d1 CLINVAR:266831 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6919347-6b8b-4360-9aa9-426c7b7df038 CLINVAR:51714 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a796912-0168-4244-a825-566e43c5354d CLINVAR:51714 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 468e9c3c-c1bc-44a4-a11e-845cba155303 CLINVAR:266832 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 173dcc0c-e2eb-4ea7-a2ef-1da5ed2810d2 CLINVAR:266832 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba80d47d-44a9-4a37-acc0-4f7fd432693a CLINVAR:254540 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 854c615a-6602-4437-90cb-3617bc6205e8 CLINVAR:254540 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e65c5e8b-ec9a-47d6-bf92-30ce85e0be0f CLINVAR:51715 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ea15f67-d599-47ac-8a84-92b8561043ed CLINVAR:51715 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0758a4d9-2331-4ed3-86eb-9818bd4f1264 CLINVAR:266833 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ce33fa0-cbfa-4cca-99de-383371c53755 CLINVAR:266833 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68a6a935-5a68-4ef6-99a3-c0a51e95d2ce CLINVAR:51719 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c76f2054-644f-46b5-a66b-f79fcd47db49 CLINVAR:51719 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86b62791-c725-4e09-a5d6-11f1eb029573 CLINVAR:51718 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2a39bd4-ad2c-46f4-be83-8ce3c2299f55 CLINVAR:51718 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf462694-0d26-42c0-9152-f7b9ef90b50f CLINVAR:126053 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aba84cf1-da32-4ae8-8ca8-a5415fc5b633 CLINVAR:126053 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5db9de72-66d1-42e8-bae8-74c00d6b01a6 CLINVAR:254541 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21834880-b955-4341-b618-c9211b85bd0f CLINVAR:254541 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67d3a725-4e47-4306-a6fb-5e0fafa3cc27 CLINVAR:142963 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87f5634d-c382-4524-af3f-6e87dcaa6439 CLINVAR:142963 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d86c7a12-d7f6-458e-bfa6-f635f494a017 CLINVAR:182317 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd0947eb-02a5-4c05-afae-6e3c6eb83020 CLINVAR:182317 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 61887bca-d7aa-4c18-9d1c-b0d6080b70d8 CLINVAR:51721 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11e4be3d-70ed-48bf-9e43-2d7dd14fb379 CLINVAR:51721 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa4a59a5-4503-4a21-8e15-54ede2bab4e4 CLINVAR:51720 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa43529b-5e33-4778-a63d-63fea8287bf2 CLINVAR:51720 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c218a74-6670-4f41-8e95-f7f41776537b CLINVAR:51725 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da35a4b7-7b1e-4c43-a644-7e00c8b46544 CLINVAR:51725 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed3c764c-a0e4-4cc3-a028-f1b78cff4eb3 CLINVAR:431309 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c094857b-5419-41e8-b9e5-7eae39166997 CLINVAR:431309 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2291baf2-7d48-4529-bc4c-df4bae67cb4d CLINVAR:91826 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a75feec4-2bad-4a50-89b9-85fe6de5f75a CLINVAR:91826 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b64e5b0-dbe5-44a9-806a-835343109246 CLINVAR:51726 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bef41a55-3341-4ebf-894f-36f6e251f2f8 CLINVAR:51726 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48e5b991-eda7-41ea-b5c0-c5e3df968d73 CLINVAR:266835 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e66a09ce-554e-4774-a98b-64502582bc49 CLINVAR:266835 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e16c3e2-2d24-437a-8033-5976be214ae9 CLINVAR:51730 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac451433-a22d-41b7-a7ab-5a319e16fd8f CLINVAR:51730 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea35790f-1fee-4d72-8bd8-8ceca73b3fd5 CLINVAR:409426 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc5a50ec-2f3b-4dae-ac70-8e2d78249a04 CLINVAR:409426 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b890e2c5-1495-48c0-ab8f-7e3d0f518714 CLINVAR:37929 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa6a29d2-5660-4136-9d95-377301ecbd9a CLINVAR:37929 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dddbbf20-2cf8-4218-8248-cc48bf8eab80 CLINVAR:51731 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96036f43-ef2b-4419-9d3f-3381fdfc7a1e CLINVAR:51731 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2424ec6d-558b-45bd-b576-8857ee447673 CLINVAR:51732 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f92b493-b0c8-4a13-8ffa-e1efd0228f4e CLINVAR:51732 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf87880c-79fd-40aa-a7b7-81e459493ce8 CLINVAR:441371 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f16e095a-00e7-4cf1-93af-8d8f9f566308 CLINVAR:441371 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 438ea41b-1383-4a7f-906a-b9598609f194 CLINVAR:51735 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fddf2d29-4ac7-4924-8f78-96a5e961ac57 CLINVAR:51735 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b827def-f0e3-4bcb-bb57-6bb213e92349 CLINVAR:126055 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 833660f3-fb9d-4f74-b425-5642a680a574 CLINVAR:126055 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e059af23-fbb0-455e-a8aa-44fbfb6b6206 CLINVAR:254542 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1505fbc0-0382-4289-b209-bc1890ff605c CLINVAR:254542 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6edea41d-3f73-41c0-aaea-cbaf7439b4ea CLINVAR:420258 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0fca20c-dce4-4dbd-b29e-abc2fb3bf48b CLINVAR:420258 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 976d47d5-4a48-451c-ad11-0eb9328b5a2e CLINVAR:187127 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 008cab37-8336-4571-b3b9-f71d1d14e98b CLINVAR:187127 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41931658-8535-4539-a12c-fc43fee75e1d CLINVAR:266837 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0041479e-ab79-4638-a3ad-2a82176cb80e CLINVAR:266837 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d71e1fc0-ebfe-4c5a-af30-3475ac443654 CLINVAR:51739 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9306526d-b9bf-4038-b97f-949680dbc041 CLINVAR:51739 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f94cba2e-956d-422d-9810-bbbcbcddca2f CLINVAR:37933 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b695b560-263d-43e8-90c3-1e7b152e035e CLINVAR:37933 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28d126d4-8bba-435a-8273-04418d8511ac CLINVAR:51742 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c0efa3a-0850-443c-b09f-8d6cbfba9c54 CLINVAR:51742 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6cabc59b-a180-4cf6-a779-d8bf1c3f92a5 CLINVAR:266838 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e5ffde6-ba29-420d-9a20-84b59738ef50 CLINVAR:266838 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb7cdcf9-91e2-4e55-8cf7-8b0a745261e1 CLINVAR:51745 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d063683-a9f4-430e-887b-7adadeae4d5e CLINVAR:51745 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08547e29-ddee-458e-a1d7-01f5200c3c4c CLINVAR:37935 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4176b7c7-f384-4985-971d-2239701cb976 CLINVAR:37935 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 890d6e2e-6265-4138-9837-c13f5bae0524 CLINVAR:51744 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar daf2b1d7-73c2-4e4c-b9b8-2a283ff9eb90 CLINVAR:51744 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a287963-6f52-427f-bd3f-5400bfa17a19 CLINVAR:96811 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f450bf08-2a25-4bd9-ae55-37f67f8ade26 CLINVAR:96811 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ff0f3cf-469b-45f8-88b9-d9971a60b356 CLINVAR:548324 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 425b0abc-db45-4132-8672-fc2e52444b2c CLINVAR:548324 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1fa2fb98-d3fc-4e49-9c5f-ed144ea3b717 CLINVAR:266839 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f43aad8-36cb-443e-8b6a-40328185153d CLINVAR:266839 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6fb16a2-d34c-4c42-87a2-cc9dba883cd3 CLINVAR:254543 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84813398-7c8f-46c0-964d-357b467c078d CLINVAR:254543 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e86abb9-2f31-4acd-8702-63ef5b7963e9 CLINVAR:51746 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar defbc67b-8542-40e7-9bb3-ac78608db7bb CLINVAR:51746 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8860ad1a-5736-4e49-aa95-e92b6d9c8e40 CLINVAR:254544 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a62bcfd-6568-49be-8fd6-e9887c206932 CLINVAR:254544 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 789dc07d-75bd-4f80-b654-b63590edc7b7 CLINVAR:51747 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a62f4be1-66c5-430d-9476-0133d6e91f43 CLINVAR:51747 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b6348e1-3cd7-46db-a774-c4c217ddd75f CLINVAR:51748 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec422d1b-710d-4897-b003-fe478215f5f4 CLINVAR:51748 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76c7fb9b-7fa6-441a-bd77-5a7e4d84695e CLINVAR:266840 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 242708a4-d1b5-47cd-9629-e6aa91f3da30 CLINVAR:266840 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8578e45e-431f-4fdc-b9ae-bd089f54f44b CLINVAR:221620 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81193a18-da8d-4b5d-8af8-556a67b81f94 CLINVAR:221620 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae5ba02d-b55d-4128-beeb-566d8c5b929f CLINVAR:373825 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d629a70-17af-4c28-9115-d7ff3ae0173f CLINVAR:373825 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22fe8e68-5344-4654-9391-fe72359ea364 CLINVAR:91830 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ecec99e1-ccb0-4633-bd3b-f458d97f052a CLINVAR:91830 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 909e3d6e-6d61-4c8b-8884-975adb5caffc CLINVAR:51751 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b66a76aa-24ce-4a25-930f-e5b7eef708fa CLINVAR:51751 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e4e560c-5569-496f-b34e-aadff3b9434f CLINVAR:51750 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 142134a4-4160-4e67-a4c8-33656d3d0504 CLINVAR:51750 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2891dd56-f8ab-47a3-adb0-f12353d2cded CLINVAR:37936 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9f14cf6-4628-4306-8ecc-8e016b490342 CLINVAR:37936 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96309855-24a8-4230-8dcd-f33b6f4ac8b0 CLINVAR:254545 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc95cb42-4610-46da-b971-baa38af4abe8 CLINVAR:254545 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 464802d1-ef98-40c1-afda-df2606f63777 CLINVAR:254546 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f590548b-af22-4c59-b42d-a9c2caaba168 CLINVAR:254546 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel caffe092-e0fe-4d65-91e0-2c3c453374c1 CLINVAR:548385 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 901ba990-3a8b-4970-a01e-5731f93a8105 CLINVAR:548385 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d9e79f0-c605-4c18-a82c-6a7be3ec886c CLINVAR:266841 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e274edb-a283-43b5-a996-4956db600fc9 CLINVAR:266841 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12e800bb-efed-4ff5-88cf-6ad6d758293a CLINVAR:548414 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30e4543c-fdd8-47f4-8133-ca45dac3e8c4 CLINVAR:548414 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f321a3a-e0ba-454f-9798-dbeecc13fd0c CLINVAR:126057 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8e7db4a-2ffc-4811-b14f-a67125290073 CLINVAR:126057 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 037346cb-a7cb-4474-8d01-65f36885cee9 CLINVAR:417624 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 798732ee-70b7-401c-a9ab-1784502d76b4 CLINVAR:417624 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45b3aa9e-427b-4040-9c95-c319b00b4be4 CLINVAR:51752 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1c72838-1e26-4686-b83c-f8d3e7987d88 CLINVAR:51752 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f005f52d-25e0-4984-b75d-5d8a12e3bf5b CLINVAR:266842 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffc5a7de-4439-4e47-b7df-ef7931a1907f CLINVAR:266842 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1974242-057f-4221-ab39-23324df1205e CLINVAR:91831 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7aaf5173-8312-4ea8-83ee-b151469db47c CLINVAR:91831 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91588eb8-70f4-4f83-93c8-0525a0dba77c CLINVAR:51753 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0302b806-6160-4b5f-99b4-09c0c0bdd63e CLINVAR:51753 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb4a4ea0-59ed-4e48-8730-1cb82a481169 CLINVAR:37938 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 008056f1-506a-4c23-ae5d-cf663d124846 CLINVAR:37938 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e427b43-347e-49cc-a72c-10ac3b856a7d CLINVAR:51755 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ce8c4bf-1689-4de9-84a0-f4d284cb7f77 CLINVAR:51755 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5b72a64-b072-4882-a620-5fc25d08f142 CLINVAR:219406 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 957a7616-6300-46fe-aefe-bf53b5a0663d CLINVAR:219406 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a1bd3bb-4c46-4ae8-bd94-34dac3ca5119 CLINVAR:37939 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a7349e3-9ca9-4635-a797-8b3ed4621bdf CLINVAR:37939 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0fce1ac0-2de4-4a8a-9508-6063e235331d CLINVAR:266843 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a923249a-bc8b-4c01-b535-3a07bf8d001b CLINVAR:266843 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 172b6d58-364f-4b14-9875-d1b7d3ce51d4 CLINVAR:37940 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 733f7bb6-1126-4044-889f-c66a4a930e08 CLINVAR:37940 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 905fca1c-4a0d-4bba-b5d6-62911d1b9937 CLINVAR:51759 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 860673f3-8cc3-47d1-8b90-82d0e981de8f CLINVAR:51759 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac4fe41f-a779-40f1-ad72-a40978bb7c00 CLINVAR:266844 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e72586e7-f9f0-4c30-93f0-82d931083e98 CLINVAR:266844 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0aa8785-fcab-44d7-b973-4daa873964f0 CLINVAR:266845 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2345795d-2113-470a-b35a-7c3eafcd4cdd CLINVAR:266845 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79473e82-f5b6-45c6-93c5-e6de82f4ea01 CLINVAR:91832 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8506d151-8ab4-4f05-86f2-9924ba62cdce CLINVAR:91832 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eab9dd28-ee2d-4315-a040-4215bc435d13 CLINVAR:254547 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60208ea5-8411-4b63-9f18-4312490a44cf CLINVAR:254547 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7233b0e5-1028-4670-8840-efc356bdc2b7 CLINVAR:51761 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12c1f381-b755-4652-bcb0-d899a5a08c93 CLINVAR:51761 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c99419e-e210-467c-a642-8a4c6f458cbe CLINVAR:37943 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4888c07-1247-46fa-8b35-341269d6e085 CLINVAR:37943 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6fac948c-28f6-4ba3-bce6-63b4962b4bec CLINVAR:51762 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19d714fa-d5fd-4cf8-9ca1-f419bd85b278 CLINVAR:51762 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 979a4d20-b41d-4eba-b14f-2fdd898a0571 CLINVAR:254549 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bffa422d-88f8-452b-aa4f-516f1c7cf37b CLINVAR:254549 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 284fbefc-ce73-4ed2-a126-e779b50e4ce1 CLINVAR:254548 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0a2aabf-cbad-4ebf-a772-d9170cd51ffa CLINVAR:254548 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 564a3640-0496-468e-824d-6e091d2d9703 CLINVAR:126059 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ffa169d-1a7f-4831-b561-95315801a3fb CLINVAR:126059 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cda0029a-cb0f-469a-8435-0113520f410f CLINVAR:233618 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 614e7fb8-652d-4a1e-b73f-9eaba2e46429 CLINVAR:233618 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2b7b49d-52b0-4d4e-9fa1-598d65021803 CLINVAR:37944 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22dcb714-1b4d-4bfc-9cb1-810149a70dc5 CLINVAR:37944 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6abf2ac1-f2c0-4887-bc23-48b0fd5276b7 CLINVAR:548327 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40791812-8b15-4406-9b91-b9fd43fcba37 CLINVAR:548327 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 151cc23b-5957-4b45-9303-f9769e0dd9d0 CLINVAR:51764 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1d501de-c77b-4484-8909-a544b6b025f1 CLINVAR:51764 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4fb45985-84bc-4661-b48b-b766f7032770 CLINVAR:51767 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 488a559a-9978-4b45-ac1b-4f0074f888a2 CLINVAR:51767 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 179c26ed-29bd-4aae-8131-5115be37cdbe CLINVAR:246151 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2642f897-f116-4068-b37f-cc649a464252 CLINVAR:246151 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb88b29d-a75d-45b0-af70-b7b8423a54e0 CLINVAR:51770 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d77ed565-ccaa-4e44-9ef2-72a15d82e0b4 CLINVAR:51770 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da1fdf81-e63e-47bc-a53b-9ef9c611fc19 CLINVAR:266847 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0e861f9-3f95-4820-8ba4-08728658c32f CLINVAR:266847 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6509a925-204b-4d06-a482-de81dee0f241 CLINVAR:422242 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ad33183-6e14-4f1b-b7c9-00b731b3ae63 CLINVAR:422242 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b429cf8a-0126-459b-a41f-76c69ad0e33b CLINVAR:51773 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26f8d742-bf04-48f9-8454-aa3cc04921f9 CLINVAR:51773 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bc6666c-145c-4b9b-8356-b310c7c94326 CLINVAR:51772 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91e82cdd-4882-42aa-a3c6-7d5bd1e168c6 CLINVAR:51772 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d04613ae-14b4-4360-bf6e-729f275f2a65 CLINVAR:266848 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ef5936c-312d-4204-8f39-95120526e0c4 CLINVAR:266848 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7fc031f1-09ca-4a9e-9da0-a9885cc5d32a CLINVAR:266850 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3ead4ae-9b9f-4971-9b5c-44cb9c1cf4e0 CLINVAR:266850 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1394330-8bfc-4fbb-982c-914cf6933e0e CLINVAR:266849 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9d662cc-d06b-4956-a786-f5b8fd32afb3 CLINVAR:266849 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5af2a050-da4f-49ab-9fd2-3685bf756392 CLINVAR:265057 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1526b6c9-3ab6-48f4-bf69-1edb1423fbb1 CLINVAR:265057 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96656b39-e338-4c36-ab96-2e3b316024ff CLINVAR:266851 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ae23e7e-dd6d-4802-9ade-cfbc36598666 CLINVAR:266851 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c53a7a78-8026-4f45-b525-fb349c3793ab CLINVAR:51775 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9d6ef69-be64-4715-8974-d08d135aa989 CLINVAR:51775 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24ad1071-584a-40e1-8505-9ea06edcae28 CLINVAR:254550 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d78c90a0-d341-4559-97e4-2d294ec24c66 CLINVAR:254550 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77cb8b80-80a8-4936-8850-6242de980d52 CLINVAR:51777 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5595abad-107b-465d-9619-3978e0983426 CLINVAR:51777 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ba72c0a-3908-41e6-a2f2-3ad43008f9b4 CLINVAR:254551 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0bb123d-8d4f-44af-a558-894e67098c13 CLINVAR:254551 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d4206df-5f60-4481-8a61-6b982b8c564e CLINVAR:234506 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d679516-ad45-4020-bbe7-9df2763195b3 CLINVAR:234506 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e821bb6-9bab-443a-bf4c-6379ac8a73ff CLINVAR:254552 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b946ab2-5a34-4284-86b3-b275b61b7dab CLINVAR:254552 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b434fb1-e769-4b2e-a1bd-860de1f8b5f5 CLINVAR:51778 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c35cf5de-5d74-4e39-ba80-cd05871db88f CLINVAR:51778 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 141942b9-33c8-427f-8018-7e83c776cd87 CLINVAR:51779 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 174ee383-b21f-44a6-a6c6-ea8655445027 CLINVAR:51779 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2ebd7b7-109e-418e-9159-99b6e0511b62 CLINVAR:266852 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55a9e840-96f6-44be-958b-63715b2a187a CLINVAR:266852 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c2716e1-a131-48c6-bda5-62365b4e5dfd CLINVAR:266853 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1497fe34-eab1-42ae-970f-5bf67dd623d6 CLINVAR:266853 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7050e258-e788-432f-a638-4ca6c4894971 CLINVAR:51780 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6c56a1c-0a95-4bcc-81bc-4026d2d000b9 CLINVAR:51780 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6bcfdd5-ba2d-4eae-828a-937e75c9c390 CLINVAR:266854 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6368aac0-09dc-4dfa-8379-88d1b85fe5dc CLINVAR:266854 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02b4f8db-63eb-4658-a1ae-da4c7c349bb7 CLINVAR:51781 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8a6625d-7666-4ee7-b4c3-6541921cd085 CLINVAR:51781 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e45b5d9-413b-4400-a2c7-8b7797cc41a1 CLINVAR:375547 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2845fb3e-fcc5-4b85-9b96-6c1c4d918f29 CLINVAR:375547 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 620dc8dc-240b-4465-9cfd-7d87d64a0526 CLINVAR:142608 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 993e8c47-9fa2-4cd1-8b23-ee376bf6e5e9 CLINVAR:142608 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8441636-20b0-4073-b458-93ebc660ea75 CLINVAR:51782 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc8aea77-48e3-41a4-aa2c-85bf2aa0944d CLINVAR:51782 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 956a3f72-c761-4808-ae69-488c0cb371ac CLINVAR:266855 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3beb936-b888-4c1c-827d-fb56d683a2d2 CLINVAR:266855 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 73e71a6c-850b-4dd9-ac44-b52906c01e12 CLINVAR:51792 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 305c4666-88fa-46fb-bd8f-3d27a5fcc2d1 CLINVAR:51792 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5d6c6e9-6d94-4503-ad69-35b0cef779db CLINVAR:51791 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82639b97-61bf-4cf6-9deb-52b0fb22b17d CLINVAR:51791 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9a7521c-a2a8-43e7-9702-ebb3967d08ea CLINVAR:225744 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 889a7863-edc6-4266-bdfe-69b710b091e7 CLINVAR:225744 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3a1e342-a16d-4940-bb5b-01eb4b4a7618 CLINVAR:141872 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c79ce67d-fd93-458b-b6d3-d07b274957d6 CLINVAR:141872 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82ad2a38-dbe7-4eec-b37a-3504321d06b8 CLINVAR:254553 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 154713d0-5c75-4852-b8e1-b25ca9addbe9 CLINVAR:254553 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62bbf263-aaa1-41a5-864e-cd0975f2009c CLINVAR:51804 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81c7008a-8402-4c65-aa66-dee3e663a9c8 CLINVAR:51804 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f77d0f13-4fe7-45f0-876a-9ec63f7bc262 CLINVAR:51807 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dece8894-75ac-465d-80ad-02cce57bc2ab CLINVAR:51807 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b1b42eb-bcb1-403f-a6fc-d91f1c3fc6f2 CLINVAR:51806 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c4fe341-12db-44be-9cef-467b32c217b7 CLINVAR:51806 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2204e22-2d65-415e-9644-88bf5274cb6c CLINVAR:441526 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 769aeb5b-1cbf-4d9b-bb24-a37919619b64 CLINVAR:441526 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 611796a0-49e2-4ffb-826e-62763b88fa21 CLINVAR:233155 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4694d459-909b-4b4b-b0cd-5dcd728da6d1 CLINVAR:233155 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09601ce7-b9fd-422b-9fbf-75f050c2a09c CLINVAR:89048 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d11b3955-beb3-4d89-b617-c298d417bc29 CLINVAR:89048 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7308669-ce48-44a3-a0b2-27b7c699428a CLINVAR:51812 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21add48e-3158-4313-8691-7ad4be58fa19 CLINVAR:51812 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c15eecb0-09da-4cb6-9d97-2d2973522736 CLINVAR:266856 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b82f0789-db72-4697-803c-ca1065da864d CLINVAR:266856 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 690b9889-de7a-4a22-9339-85381c47f72e CLINVAR:254554 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d60c3f4e-9085-437d-9276-b8b2d735237e CLINVAR:254554 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc68c76d-330f-463b-ae9f-a6f23eacd907 CLINVAR:266859 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4c45aed-00ee-4cf2-8760-deac69fd187e CLINVAR:266859 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3170a19-94f9-4d6f-ba08-202d02047048 CLINVAR:438988 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cbd13bc-5c9e-4976-af1b-0c9721a72fbb CLINVAR:438988 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfb411d0-c153-47d1-865b-c5e5b3d4be50 CLINVAR:266858 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fde7cec0-5aaf-4930-bb94-fc081d69c7af CLINVAR:266858 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fab5d7eb-a824-4161-8cf1-7ab609a25511 CLINVAR:224444 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 371900a0-73b7-4471-ae00-e80ac0b520c1 CLINVAR:224444 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efffc872-d0a5-40dc-9e05-eac53ebef59f CLINVAR:51817 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21d0f03f-3795-48f2-97db-4de5b218298b CLINVAR:51817 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93c0f70c-7452-41d5-aae3-4d1721c1175c CLINVAR:51816 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89a39679-ce7f-47ea-8274-f94950f79e5d CLINVAR:51816 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4b293ab-4fe4-44b6-ad31-635877bf47b3 CLINVAR:37951 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19706fd5-dd1b-402c-a206-2396bd911831 CLINVAR:37951 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f1f0f64-c9db-4e3c-af53-d73ffbce3200 CLINVAR:266860 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c1ec452-8f35-4d1f-9056-abd881f1aa62 CLINVAR:266860 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97dbf399-c449-476c-92c0-cdb9000ef097 CLINVAR:91839 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 040f0c6f-7ce0-4b66-9780-0076be0bb2b8 CLINVAR:91839 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5804ddba-52ba-458d-869a-1960d2999464 CLINVAR:51820 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba74ce04-66e8-4115-98e6-ff3e6714dd7a CLINVAR:51820 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39afa4db-a3cc-4bab-9852-f3c724810968 CLINVAR:51823 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0548d2a-fce8-4f12-bbb5-5c162472268b CLINVAR:51823 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3f6a5c0-e089-41b3-a83b-1c4142b143b0 CLINVAR:266861 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e150b700-a27e-4a73-a8fb-6968eb740beb CLINVAR:266861 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eef6b10b-42e2-41ce-af3c-c77dd23c2c3e CLINVAR:51821 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24e01a46-8244-4ace-979c-8af699a5bda0 CLINVAR:51821 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel acc4cf2b-fc39-4172-b3ba-c4a847ca74ce CLINVAR:266864 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8bebfdbf-8dc5-4a78-ad86-0ad8953c7950 CLINVAR:266864 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e34ffce7-6128-472d-a0fb-d697b5ab4a10 CLINVAR:266866 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea46098c-fa00-4cb8-a4dd-83c2e30dd850 CLINVAR:266866 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec5c3108-b6da-43dd-8c6a-0594be8153a1 CLINVAR:266865 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a497347-7d46-4842-8714-1841c1b84273 CLINVAR:266865 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 957e8793-5f20-4508-b526-7e4f82e9ddcd CLINVAR:51822 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9461254b-61bd-462d-ad1e-821214b2a5aa CLINVAR:51822 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c97f8f7-d847-4815-acfa-d84e792a1aad CLINVAR:51819 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49e9674f-f629-4c05-a772-5f83d572502f CLINVAR:51819 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26923584-8eb3-476e-82b1-fe25941b7a86 CLINVAR:266862 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0cdf9270-ef11-4217-bdc7-269f921cc02f CLINVAR:266862 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7f7ddda-bd16-4cf6-8cc4-9dc592a7325d CLINVAR:266863 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4a77c63-ba6b-44e8-a4be-110c89e5d773 CLINVAR:266863 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28db186e-3221-4227-a24d-4242fa9295a5 CLINVAR:548344 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a0fcd7d-ba91-43f9-8d05-09cc90a6ced8 CLINVAR:548344 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef088882-503d-4a3f-ae38-71f57b62c697 CLINVAR:126063 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d106806f-1c6b-40b0-a259-b11386ae9f52 CLINVAR:126063 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62abd10f-4a95-40b0-8edc-911d647df76f CLINVAR:186235 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3df77d66-dc0c-4f06-81f9-a97b77c92e68 CLINVAR:186235 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c2408f7-7c42-4c39-97c5-b2478258ad2e CLINVAR:236279 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd79d38f-dc9d-470c-95f9-d0aa9d7097e0 CLINVAR:236279 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5e4c354-f96c-46dc-8c26-387406bd1f85 CLINVAR:37954 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c9d82c6-37b9-4bdf-b182-e55ca363a6b5 CLINVAR:37954 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f4fc7af-9a4a-4246-affb-048cd158c01f CLINVAR:548382 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7178b947-8e0a-40e9-bb82-00f643572cbb CLINVAR:548382 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 553da855-7c1e-4eda-9663-c81bbf27a0d3 CLINVAR:126064 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3cb61e4-ced3-473a-abb6-6c7333fa6859 CLINVAR:126064 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 61217fa4-09f1-4eeb-990a-20642222b221 CLINVAR:252837 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c2b2a93-2ce5-4dc0-91c9-eadf64c43ff0 CLINVAR:252837 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21b4c757-c986-4ca9-9f2a-6f5957e7983d CLINVAR:254555 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a2ff852-9b73-4457-896f-e88bec1d4eb2 CLINVAR:254555 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39369697-0e14-4c09-a55c-3a692b11786e CLINVAR:51829 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e82058cf-19b5-4163-817a-7ba1183f595d CLINVAR:51829 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 998c29d6-4269-456a-b397-4c24251254a9 CLINVAR:51831 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37516624-9c20-4d93-92b3-3b0ec8a2e2d1 CLINVAR:51831 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 30000ca3-a903-40b5-a472-522975cb28f2 CLINVAR:548433 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f49ca67-c275-402d-8f7a-f5f7045d86f0 CLINVAR:548433 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 73256bfc-375a-46da-9aa1-fae2b4605a89 CLINVAR:266867 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc462d32-fec5-4b80-9622-d2545628185a CLINVAR:266867 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1eee869b-6a51-461d-8aea-f9495095776e CLINVAR:37955 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d541501-305f-486d-857f-a6a93a09410f CLINVAR:37955 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2b554c6-d35d-444b-a0b6-4eacd2ae21b9 CLINVAR:126065 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57c3fa39-1ff9-4775-9247-807657d8b041 CLINVAR:126065 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f30423b-24e6-4a97-912e-5a49a0316a0d CLINVAR:266868 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 788696fe-f3d3-454d-b60a-a1a186e7e3ec CLINVAR:266868 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2959d445-8c5f-4d98-9707-2152a2cc5d90 CLINVAR:51833 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df545dd3-c8f6-4547-a5c7-3eee74acc3c3 CLINVAR:51833 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b421106-3b95-41a9-a42b-87e2c2e8038f CLINVAR:254556 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12d7b039-200b-4ec4-a9c8-7292b23619db CLINVAR:254556 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d064ef7-207e-4f6c-973f-fb9f8d1bfa2e CLINVAR:37956 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fb315f1-5b7f-4171-8faa-e73db33e1ffa CLINVAR:37956 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e258b5c-0271-45dc-a91b-94cc657c02f2 CLINVAR:51836 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe598dbb-7ba2-4258-8523-4f6d6769e9df CLINVAR:51836 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3850efee-dac4-44c4-8ddf-fe321e69e4bf CLINVAR:51837 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8f45bef-8601-4098-b345-e74de65a5b6b CLINVAR:51837 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3066df2e-739d-4134-98ce-a95e719a1903 CLINVAR:252838 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 944fc314-fc3a-4cf0-ba97-7cae8e6ddf1f CLINVAR:252838 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67fde61f-d1bb-4684-9444-efbf029cd9b7 CLINVAR:422009 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83a48404-c285-44cc-9e17-09df40852c85 CLINVAR:422009 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6c645c8-d889-4a02-8463-dcd80b8e4e47 CLINVAR:266869 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 312d795d-8efb-4523-8a62-c74d3aaefb7d CLINVAR:266869 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 399b076e-2fa8-4a5b-8f61-d5870210094a CLINVAR:254557 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 749bb6f9-67ba-486d-879f-2a4cb7d05c94 CLINVAR:254557 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8003621b-d658-4225-a479-ea9d6a843799 CLINVAR:37957 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eda29b99-339a-41b3-869b-083dc1a41bd7 CLINVAR:37957 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77e71e2e-d855-4bfe-ac6e-384894bbe5b1 CLINVAR:266870 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfb27d58-7b90-4854-8d8a-f95470d0adf1 CLINVAR:266870 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ad1a345-9237-4a16-b8e7-8448aaa458e4 CLINVAR:231574 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e6a6d3b-fbcf-4045-82ed-49ce83788530 CLINVAR:231574 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8038da13-fba6-4fd0-9c0c-a85be9aa45df CLINVAR:548408 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d81d3ad-7d5c-4e34-b33e-8c7d86158996 CLINVAR:548408 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b77815c7-2629-43d8-a22c-70bfaad8dce0 CLINVAR:266871 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a29f0b0a-a579-4a88-a137-f6500ff1e081 CLINVAR:266871 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c49ac57e-430b-42c3-a812-3685388dc001 CLINVAR:230991 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bdcbdb56-cf5a-4563-84a7-c5d654b2b9f8 CLINVAR:230991 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36b5d233-8da8-4640-aae8-eda32a3fd253 CLINVAR:266872 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc307d0b-bfdc-43fd-a844-a97c1131a3ba CLINVAR:266872 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b7c91f7-fe34-4880-9849-0f2b4ef380d6 CLINVAR:548411 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8cd85575-4684-404c-b1f4-47345f403ea5 CLINVAR:548411 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a186902-6f07-487c-8e9e-fe3bd18d750d CLINVAR:51843 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b192d956-9eaf-4b63-a276-260892b50b15 CLINVAR:51843 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 490f5731-62ed-4c6e-af79-c73d0b70ab1d CLINVAR:37960 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5137230-f3c5-4bcf-a078-83bd2e25165c CLINVAR:37960 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71a0ef8c-7613-4e62-bc3f-65353d3f660f CLINVAR:266873 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79731df9-a063-4ff5-b45b-6f2e2162a72c CLINVAR:266873 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cceeb206-246a-42e3-9618-d942ae40e459 CLINVAR:51842 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3aaebe6b-9e47-4c31-b6e0-10acaa549a5c CLINVAR:51842 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0f2fe59-df33-4a36-b0c5-ee6d5ae919d1 CLINVAR:37961 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83b5d882-8a2f-47cf-9473-6ab7db5b9a2a CLINVAR:37961 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f10091f8-5b35-49ac-9dec-7d6e6f0598c4 CLINVAR:37959 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2457d670-74a7-4860-ab69-4e4bbaaa8db2 CLINVAR:37959 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d473954-13a6-4025-a9aa-c2807eea8f8a CLINVAR:51844 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4d41e92-a43d-4c7d-b5fb-33afae850cd7 CLINVAR:51844 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3621b76-eff1-407e-ba88-80ee3683de66 CLINVAR:51846 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94abc6e0-be87-4218-ae9c-e1e63d71b842 CLINVAR:51846 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0abcf4f-3a67-4b09-a269-bc9436459ad5 CLINVAR:548420 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52171312-f699-4a51-a819-ec77f1beb71e CLINVAR:548420 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f4f63d2-33fe-4b29-a3ec-21b1604028c4 CLINVAR:91413 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26e28cc9-0978-4b93-9997-89443c133f83 CLINVAR:91413 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6822bec-fb32-4574-8cd7-5b9c0bc075a2 CLINVAR:266874 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20cd5f22-eda7-42f6-9f8b-577596ff6827 CLINVAR:266874 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8df16314-d75b-43e6-a304-db8f40a9cfa8 CLINVAR:185697 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d565e59-4b0b-41d1-bb77-5eeca95e9cbc CLINVAR:185697 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6b3077d-5ba5-497e-9d0d-ed11a6bebcfd CLINVAR:51847 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16494b2c-7611-493b-8410-1a8d8c82d8ad CLINVAR:51847 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53f755dd-f07f-497d-a644-b05c0c30290d CLINVAR:441483 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1765e27-4b7e-41f0-a4f9-760422f4110c CLINVAR:441483 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac0ed1fc-1768-4e37-bbfc-04264735ba33 CLINVAR:231996 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fc54714-8457-4e18-8bdc-31c5be88b2fa CLINVAR:231996 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24c3e023-0585-4656-a7f0-15c3fa5420c8 CLINVAR:141572 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8d67446-25e8-4b7f-9356-ac4d50e992c9 CLINVAR:141572 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 540d6463-7372-4f98-a9d8-e478904b9368 CLINVAR:89049 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d3bc271-9960-456c-9f8c-f685d330fcce CLINVAR:89049 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25745b5c-f5ba-488c-bd0c-0edc571cfd56 CLINVAR:266875 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e6258ac-7a15-4329-82fe-d99db221379b CLINVAR:266875 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 19540f12-9420-43e8-9332-819468aa7638 CLINVAR:96820 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3d34f46-11ec-4667-842f-f4c3dc7f7e7f CLINVAR:96820 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c0ca70e-40ec-4ca7-bc15-995010ac81e6 CLINVAR:252445 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6202ae5-12ba-44d7-93cd-1a8e8b011830 CLINVAR:252445 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a06ae10b-4aa0-46fb-a2d2-f105dae1658e CLINVAR:51848 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30737b2e-276b-4b74-9627-882aa5097046 CLINVAR:51848 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6431ee1-6348-4137-ad60-c50e3ab991c0 CLINVAR:142629 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a02024f1-0414-451b-8c01-88c8cd73087f CLINVAR:142629 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8bdaa682-c013-4845-bf33-9b737d48c1ee CLINVAR:156171 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb3c6e29-fd48-471d-80ee-17ce515200ac CLINVAR:156171 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad03c423-8539-4d19-8e04-15adf36ee21f CLINVAR:51849 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a13c4369-954a-42cf-9b54-a4576c49fb68 CLINVAR:51849 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5a9e210-d60a-4b6e-9773-378e5233e2ea CLINVAR:183184 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d913eb99-47e7-4da5-896c-01721286d350 CLINVAR:183184 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 784ebd21-c7a1-4e88-8618-ff99db62dd55 CLINVAR:423402 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0239d356-61cc-4ea2-a111-d50c9e4424e3 CLINVAR:423402 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc2f4d1f-c188-42dc-bc2c-0fcf83b26ae3 CLINVAR:51856 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 335ac109-6677-4ab7-a85c-1224adb1719b CLINVAR:51856 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4749d327-54c4-4da3-abb0-d8112080c406 CLINVAR:37963 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a135c1e4-3f64-466d-b22c-2718472fb298 CLINVAR:37963 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b804ae45-47f5-4327-8e71-e264367a782d CLINVAR:548337 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec27e0f5-d60d-438e-b4b7-756da6b1d6bb CLINVAR:548337 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59111c2e-5787-4391-af84-e9fc348b1cb9 CLINVAR:141219 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d73b1c80-b033-4b5f-ac34-37266cfb28cd CLINVAR:141219 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc28e156-3e4d-4a57-ae98-928d5cd7644b CLINVAR:51861 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ebe3e90-8b86-4799-950f-579255787596 CLINVAR:51861 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f45b934-27cf-4b66-b186-8da43064caf2 CLINVAR:51862 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c3bcfe0-11d0-407c-9ec9-5954f64b4b3f CLINVAR:51862 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fe0f443-ed7c-4d84-9443-62bcf75eb685 CLINVAR:37965 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c1a9a74-c36f-4ca4-8378-055a468eaec1 CLINVAR:37965 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a772b3e-0192-4212-826f-818163e2d9b9 CLINVAR:51863 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f0f65fd-bf3e-4fdb-9a0d-e3abafb63256 CLINVAR:51863 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9dfe2de7-8910-401d-8452-08953e7d42c2 CLINVAR:266876 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 940aa2a3-c488-4788-86fd-f6d156c05ce1 CLINVAR:266876 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37d4ecc4-10d4-4ea7-8bcb-02871e29f472 CLINVAR:51864 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 590decdd-2781-4d83-a8ee-3da4324b091f CLINVAR:51864 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc6862aa-3351-42c8-b282-bc0b0575f509 CLINVAR:266877 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a7ce111-31dc-4181-b5c4-7344b87bacd4 CLINVAR:266877 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b24fd58-6942-4877-867f-3fbe34222c16 CLINVAR:420664 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f9f9825-9f27-4df2-b491-cafaafb93b81 CLINVAR:420664 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d0f4400-5615-41b1-940a-1d8dcecac359 CLINVAR:51866 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5698496-257a-4272-b1d4-6145dc8293fd CLINVAR:51866 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d0f9880-3704-4a3d-b359-bba409dd7437 CLINVAR:37967 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2726677-56d9-4ff9-897a-b830ee093da9 CLINVAR:37967 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 735acd2c-cec2-4d49-a3d9-3739b63bdcf1 CLINVAR:51869 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e5f5f0b-ae32-4973-be05-273d3594c793 CLINVAR:51869 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2facaa6e-35d1-4ab1-8d29-d8999c2d987f CLINVAR:142638 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30db7bd9-4f31-42ae-9b7a-8f7d05ca2031 CLINVAR:142638 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c67101a-a600-458d-868e-42de7119851e CLINVAR:266878 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5781536d-77a5-46ce-8423-b940277d0367 CLINVAR:266878 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f867068-4a4e-408d-a5f2-6d608fe9fdec CLINVAR:41553 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65bbc529-7fe5-4ae0-99b4-f57edd6dd41f CLINVAR:41553 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52ecffe5-94a3-45b8-9f03-603946470c61 CLINVAR:254558 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74e57d18-d062-4f93-b9d4-fec4a31c6213 CLINVAR:254558 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e35966a7-b0d6-4491-856b-a84b9f520709 CLINVAR:126069 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11e35adb-0496-411d-ba3d-ed3f499216ec CLINVAR:126069 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20a0292b-d6b2-48ef-b0da-76a9dde63534 CLINVAR:187597 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c8334b4-c5b5-4e48-90a2-c1edd1111ad5 CLINVAR:187597 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18d245fd-a341-4af7-a96d-7259332e9595 CLINVAR:37970 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 205d98f5-8914-40dc-9492-e7c573fb287a CLINVAR:37970 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50ca869a-9c17-48ac-b796-faef9d256c89 CLINVAR:51877 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9416080-3cf9-4407-9eb6-b6bde5d78bec CLINVAR:51877 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02683a2f-b5be-40df-a459-9d1cdd6a6e00 CLINVAR:51878 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a91b1e8b-d1a0-4f30-a4a4-7e89fe7b12d6 CLINVAR:51878 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29618994-f39a-4e0b-8744-6f220da5632a CLINVAR:441413 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 859b7feb-99ee-4143-9ac5-946a25676675 CLINVAR:441413 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93c094f2-9a01-4115-a59f-149e4e6a50b4 CLINVAR:266879 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05d0bc8c-441a-4aea-9d34-9c4e73764331 CLINVAR:266879 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2ed0f85-719a-48e3-b69c-3cb6e67f0d1d CLINVAR:266880 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f53897a-46d1-44bd-b043-cb2e1e3ab5aa CLINVAR:266880 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21918ae6-7ad5-4390-9ead-ee59c7108dc8 CLINVAR:266881 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8bd9f16e-52ac-4aae-917b-c3454b9e8c31 CLINVAR:266881 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2912b0c6-1f87-4f1c-a7c9-e28a009ee987 CLINVAR:280750 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99352e5d-5b64-42c3-9d8e-3d4254aa5747 CLINVAR:280750 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06cfffda-83bd-43b5-a0b3-58a48a136462 CLINVAR:141788 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 286e8d82-87fc-497c-8bc7-4a991e5fb7b9 CLINVAR:141788 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 202d4472-4191-4326-9a62-8482ccf7cf88 CLINVAR:51879 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 064331af-6e4c-4b25-a639-c411018cc84b CLINVAR:51879 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3005071e-9b7e-492a-8b96-17a9afaa792c CLINVAR:254559 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb983719-02da-431a-be2a-14642e63b840 CLINVAR:254559 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0acbf0ee-ba0e-4f2e-93df-d6359a99ca78 CLINVAR:51881 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1489e779-cd1f-42d2-b95a-9dac277509a0 CLINVAR:51881 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e554783b-686a-4c52-8582-6f35e006f61f CLINVAR:51880 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd30f544-efdb-4c6f-bc4c-b34efa130e48 CLINVAR:51880 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d94f62b5-3ce6-4110-acdc-ed5c286fce23 CLINVAR:37975 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 580a8c47-ca48-49c9-bb6f-07e2d116e624 CLINVAR:37975 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1347cdd6-c42e-466d-a5fd-2aa97f1df633 CLINVAR:37976 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2e190be-3b99-4771-8db3-8f99ef6e6f15 CLINVAR:37976 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0576623d-b390-4b4d-9cf2-dc201c07a793 CLINVAR:51882 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6fd05f03-83b8-4a72-bdc5-cd8f6ab8c4bd CLINVAR:51882 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e35ac5bf-621f-4ccf-9de4-7faa406596d0 CLINVAR:51884 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9243aa7-53a6-4323-870a-77f029072b8c CLINVAR:51884 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a99fb105-a863-4e9f-97c6-f1bdb3bca80c CLINVAR:141989 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9891cf0c-049b-4e2f-b039-a0a20bd7d7fd CLINVAR:141989 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef98b085-f866-41d0-a5be-e83edb4c8c6d CLINVAR:266882 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63fd6421-0aa5-4470-867f-1e074defac83 CLINVAR:266882 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c0bf0c9-ca9f-4fe0-9e99-61ff841413fc CLINVAR:96823 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 531b4521-709c-4361-b48d-3083dc1a7b73 CLINVAR:96823 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c4a0b84-6f8a-47bb-ad84-2d6df31d1e6b CLINVAR:51883 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1fc15bad-14c7-4680-8fbe-dc0ccb6d4cdb CLINVAR:51883 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 354e4f63-b3b2-43f4-a0d8-cf7f3778c6cf CLINVAR:91418 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 266dc829-b89d-46f6-9b41-41d8f6f94430 CLINVAR:91418 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4cd5bd48-6c18-40a3-b6ce-75914539ae99 CLINVAR:51885 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31585991-3618-4a4b-b22b-a14c1bbec869 CLINVAR:51885 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03bef902-92b6-4e86-8ab4-c120f15a1c0f CLINVAR:266883 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7642633-e21b-4c07-9596-dad91b7bb201 CLINVAR:266883 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 451e282d-9afd-48e3-aa94-5d152ac9e4a7 CLINVAR:252840 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a9eabec-1c1d-4e8e-a2a7-0e301a5cc845 CLINVAR:252840 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4526189-44d5-4add-a5e2-e9a6a706e52f CLINVAR:51886 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f770e7e2-9f5b-4ab1-b088-6287ff549cc7 CLINVAR:51886 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5de678d7-b3c4-46f1-b184-3f555f41b3b3 CLINVAR:422453 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb12d167-a0d9-409d-b00d-202628516958 CLINVAR:422453 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6355cedc-dadb-48cd-ae75-7a0e5479df0c CLINVAR:37977 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 906dbc38-0fea-4dcc-ac65-d76337a0feea CLINVAR:37977 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e3934e3-8c5a-474e-9653-498fe5b11f87 CLINVAR:208421 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbcc7f30-a0f5-4515-bc11-34e610618aa3 CLINVAR:208421 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99b01a66-9f6c-4d28-9eaa-e8c9840fa6f0 CLINVAR:37978 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28ede495-88e2-4d20-b7fd-77a9deb0e026 CLINVAR:37978 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0faa0768-b6c5-4843-b767-ed19fdfd6950 CLINVAR:254560 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar acf8414d-5481-4ae9-9c81-ac41643d1e16 CLINVAR:254560 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f799959b-4174-4816-8447-018b90681762 CLINVAR:548416 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1173ea19-a470-40ed-b460-16d9ed7017c4 CLINVAR:548416 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f4a166a-d7fe-4dbd-8915-c02e461bda49 CLINVAR:266884 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3eaaf1bb-a749-48dc-a77d-0ecaccbfd860 CLINVAR:266884 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb72db8a-72de-4321-8604-1b81bbf68dca CLINVAR:51890 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d19b869-9255-4eb5-92ff-7dfaefa9e4e8 CLINVAR:51890 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6b4f682-9a0b-4fbf-b789-d89d75541bb9 CLINVAR:51892 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d586fe95-8c1d-4a9f-bfe2-081de98cc82c CLINVAR:51892 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21684208-22a4-43e2-ae88-a160d8355183 CLINVAR:37979 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f265541-547a-4d4d-ac8b-c8bfd58289c7 CLINVAR:37979 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ff16fff-ba7a-4ed6-a1fb-fd5b850a87ae CLINVAR:37980 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2572f6c1-ba74-4e70-8b9e-884fa0b215f0 CLINVAR:37980 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75b181c0-bc26-4fdd-a6b2-6da16ba2943c CLINVAR:51893 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f8ee11c-7c1b-423a-87de-d4855ae15801 CLINVAR:51893 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 445ddd7e-7502-44fa-8a4f-4d7e438f2928 CLINVAR:266885 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eadafde2-d3a1-43a5-9460-cf94524d2e7a CLINVAR:266885 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aeb5c687-8c72-4855-b39a-6e805b308fa0 CLINVAR:51894 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56554aa7-98b4-415c-a8c5-431f39acebdb CLINVAR:51894 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 663bd571-ab7f-473d-87f5-3494b5efb4dc CLINVAR:233780 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82570dbf-1a07-46b2-8202-f4aa70691a2c CLINVAR:233780 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fde2c60-ef88-4956-94ca-405ca6fe27bd CLINVAR:37981 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fea4084-866b-4d45-98cb-a5f2b7274edc CLINVAR:37981 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43faf6e7-b5f8-42a8-a52e-d887d035518a CLINVAR:185961 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e05a0955-0bcf-45a2-aed7-ff7c65d8b5ed CLINVAR:185961 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4093a26-3002-4cfd-961a-facc1243028a CLINVAR:51897 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d42a9e72-3533-4981-8f93-639d533977f5 CLINVAR:51897 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15458e6c-86b4-4b2d-87f7-3054c393d71b CLINVAR:254561 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f610a17-d22a-4fb2-b646-edbfe8e115f4 CLINVAR:254561 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5675ef4-70d9-4761-ae2d-5b3409a8fd61 CLINVAR:37984 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 379d75b4-45c2-49c8-a5c1-15d704122434 CLINVAR:37984 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6fbad766-75d8-40ab-976b-6026f1921eb5 CLINVAR:548378 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09528d02-89ca-4707-84a3-c9cfd0fa4658 CLINVAR:548378 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef77f3d9-085f-4276-a97a-2fed3dc50ca8 CLINVAR:9346 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ae518a5-385c-47b2-9f98-36796291b94a CLINVAR:9346 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4953cf14-17eb-416b-a981-fe5d444ded34 CLINVAR:51898 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7b88053-888d-466d-91ca-64da5fcbc5c6 CLINVAR:51898 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23e3bcd0-f357-4d92-98bf-9d25b9b7f4dc CLINVAR:266887 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d0a556d-b42c-4431-b631-046a4ca2638a CLINVAR:266887 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c405fc55-ac7a-4edd-bad5-0a4f97072709 CLINVAR:409491 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80a5e84e-da5c-475e-9411-4a3611a36998 CLINVAR:409491 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04a2ea2f-1df2-4f9e-ab18-a64a7becab9f CLINVAR:266886 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b4bcaeb-ccb2-4464-9747-49b3daceaa5a CLINVAR:266886 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 209c2b83-2317-45e4-ab78-eee133087c12 CLINVAR:254562 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55110fa1-579f-4d4d-a37f-53c0f22856b7 CLINVAR:254562 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce6bc9d6-b339-4a25-93a2-bb958d481d9a CLINVAR:37985 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38fa278e-4157-492e-97d3-cc15390fa671 CLINVAR:37985 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77cd8edc-0813-417b-a5d2-ecd34456c302 CLINVAR:51900 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f41f46d-d485-4de1-991a-88e5eeba5433 CLINVAR:51900 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55bc60cb-eac0-4c6f-b1b4-31f61353eea0 CLINVAR:51905 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c71a78f-0513-436f-bf3b-f34b46a41a4c CLINVAR:51905 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98303921-4cce-4dd1-99bc-d9d187b77357 CLINVAR:233291 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c6b179f-a1ff-4d9c-9c5c-5267e85865de CLINVAR:233291 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71b4c696-cbbc-4f98-93fb-aa9fb3bd697f CLINVAR:548351 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6a24f97-7457-4bdd-bc71-66f707bbabe1 CLINVAR:548351 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9974e6d-1419-46d9-bdef-3371ee120f12 CLINVAR:266889 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 440c8522-045a-49fd-b141-47693803c4b6 CLINVAR:266889 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c44dd40-4089-4834-bfac-e30cca29a6e4 CLINVAR:37988 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 294ff51f-699e-4d09-810d-0eddd702d5a6 CLINVAR:37988 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f3a976d-1fd0-4026-b015-94134cb6079e CLINVAR:126072 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90bf3762-ed51-4942-ad3d-ab717aea322e CLINVAR:126072 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2373e47-1b9a-42b4-8e41-d90f67930552 CLINVAR:37989 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52b42955-0fc6-44eb-b87c-a95c302ae093 CLINVAR:37989 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd4407b9-fb17-45d5-9f01-0593fa32e2e9 CLINVAR:91423 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89f6b8cf-067b-460a-975d-f50d7a7351f5 CLINVAR:91423 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48cf7821-93e6-48ed-9569-f369ce242140 CLINVAR:266892 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd0339cc-d6df-4ed5-80c1-8fbb654c4e02 CLINVAR:266892 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f36521d-6716-4015-86dc-f780ce981c8d CLINVAR:51910 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3930f825-e5cc-4e9e-ac3f-235b4d4de0c2 CLINVAR:51910 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 84670f04-34e2-4987-a7f4-4da85cff2527 CLINVAR:234187 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cb09ad5-f269-41ac-95bc-75c9e1f4581d CLINVAR:234187 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce565f69-3fac-4382-8831-1abc95653a93 CLINVAR:51911 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ef463b6-c105-4110-892b-dc21e3d6911b CLINVAR:51911 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4dc78469-4898-4954-898a-3f10cd470eac CLINVAR:143024 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f954387-5a98-4e2b-baeb-24db0f6f301c CLINVAR:143024 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e21dfab3-eabe-469c-a662-6197c4f8937e CLINVAR:51914 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12db815a-c49e-4566-86b2-233962823e02 CLINVAR:51914 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d06a23ab-0545-45cf-a4a8-134916fb0543 CLINVAR:431321 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3910a28b-07e3-4fd9-a3f5-9572c0b8fd25 CLINVAR:431321 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01d5b50f-0538-45f4-af7c-59d237a013ba CLINVAR:9320 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 176aa02a-b75d-4fe7-862b-72aa4593857a CLINVAR:9320 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e126a3c0-1735-47ac-92ea-050227caea7e CLINVAR:254563 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e107d2c1-a242-4f50-9c82-2a8ba9d2b663 CLINVAR:254563 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dafad094-fe32-4cc7-8255-d88f1e3b4ccc CLINVAR:266893 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b1635d5-cd1e-4a93-bcff-757bd7638124 CLINVAR:266893 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e950a250-0902-4c9a-9ec0-2a0850e0816e CLINVAR:193789 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c74adf4-137a-4ea1-aec3-e68d54cf6719 CLINVAR:193789 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d5a5af2-3aa9-4e6d-90a1-bd4adf67c3d7 CLINVAR:51916 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e698bab-d207-4965-9c07-8fba6b61d92f CLINVAR:51916 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eaa55087-7d50-46fb-9412-a48c3f849e30 CLINVAR:51923 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0b1e44d-ab7a-4197-97dd-1c058ece7b6f CLINVAR:51923 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a91ef231-88fb-4692-9b12-f2cbedc80432 CLINVAR:51924 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85c0775a-ae14-4100-947c-86056c57b273 CLINVAR:51924 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8cb9a3c7-005f-4970-87fc-6cd471ff4204 CLINVAR:266894 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 964b8280-ffc8-4ca4-b560-d2c5cf08881f CLINVAR:266894 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4cb99c7c-a94d-4cf6-b2d1-c14e7cadf0c3 CLINVAR:51929 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94347a4f-cd52-4628-9c0c-9fe9810108ae CLINVAR:51929 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 929ecfb0-d136-4bf1-8e39-9b615b794547 CLINVAR:51931 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e81f0fc-8810-4f87-bb9a-efb3e6fff178 CLINVAR:51931 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09785609-b834-4491-8b10-814c4f7108b6 CLINVAR:185292 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17b9676a-d1e6-491a-a370-527c01629e1c CLINVAR:185292 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 980a65b3-7a84-4814-8b68-9e24d962eb9d CLINVAR:51932 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8079657-45c3-479b-83b7-3a10667f5ec6 CLINVAR:51932 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bfe33227-2a62-468e-a785-4a1f0dd6d4ea CLINVAR:51933 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96ef8f5e-0a85-4ef1-9f97-2bc0a6464e7c CLINVAR:51933 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4adcc435-e693-4175-8045-44fcb12d3099 CLINVAR:51934 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41277705-f9f4-493c-b7fc-00c1f2975e9e CLINVAR:51934 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ed45d69-cf40-4efe-bec0-d01cb20923b1 CLINVAR:51935 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9972c03-765f-4886-8ac7-a5d4beab1515 CLINVAR:51935 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 681b1e67-b7e3-49ca-a551-dc7fa38fdeaa CLINVAR:254564 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 429d693f-b1e4-4f4a-a648-6589e40de352 CLINVAR:254564 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ec8753e-bb0f-4207-a577-858ee4d40422 CLINVAR:254565 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7bbd391-72db-46bb-a581-560b9f3174b8 CLINVAR:254565 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1152019f-8e09-4987-ba2b-241fd3bfb2ec CLINVAR:37996 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38fe6cec-0b66-4608-b9b9-1fdbf3e4bf83 CLINVAR:37996 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e967bbf-56dc-476b-b1cd-8ba47e97e7c5 CLINVAR:51938 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9783e835-3701-4e33-9c64-e2146690b209 CLINVAR:51938 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 311cf1cd-4c0a-4d68-ac1b-2695793583e7 CLINVAR:51937 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b3db2fa-f9d8-4382-a30e-fbe73fb99625 CLINVAR:51937 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12632628-047b-4271-b3aa-3601f97a277c CLINVAR:441453 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0846a48c-6697-4e32-bfe6-a3112b7e5e3a CLINVAR:441453 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6b4d451-4887-4bd7-8573-b4e0da13bc3b CLINVAR:51939 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5afb7abf-4936-4979-91fa-9ea01f04a18d CLINVAR:51939 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 170888b1-4470-4f37-be66-01a176b77d83 CLINVAR:51940 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db5bf328-c10d-4eed-9d7f-b83349c857aa CLINVAR:51940 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1f4128b-3fb2-494e-bd77-9e11b528cfdb CLINVAR:37998 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88925ff2-be90-499d-884b-962239f4c523 CLINVAR:37998 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e46f014-e250-4f82-ae5e-bbc94d50b24b CLINVAR:51941 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67a33bfa-ebb7-4910-bfe4-75bf06d458e7 CLINVAR:51941 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8173b338-e169-4ec9-9a17-f62082142e7c CLINVAR:266895 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0978b1c9-a9c7-4f48-9c3a-2a5cb05ff067 CLINVAR:266895 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b591026c-1ce3-465b-b6b5-0c6b788c8621 CLINVAR:266896 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e675dabd-18b4-435e-9ee1-f8168a8f7590 CLINVAR:266896 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46b7910e-ec67-412d-9228-48ce08339755 CLINVAR:266897 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3104ecba-f024-42e9-ae5a-8c3c85f87d59 CLINVAR:266897 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91710110-02bd-43d2-8ecc-063c6f7a839f CLINVAR:51944 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 553c6342-d7f9-4e2a-8546-5995bafdc8f8 CLINVAR:51944 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be3d7d95-f916-4dda-ade2-a31c705b8a6a CLINVAR:51945 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8cce435-15f0-4bee-b80b-7f40660a7e8a CLINVAR:51945 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a3335c2-e1c0-42a8-8fba-ad415c22b46c CLINVAR:37999 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a27cf27e-441d-4e0b-a0d3-7b2355c4037a CLINVAR:37999 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2448a267-d0b3-494a-bc8b-84a4fec5cf32 CLINVAR:51946 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e82be066-1085-422a-b3f9-539d8267b992 CLINVAR:51946 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2375a85d-75a2-4264-8139-27f050a63710 CLINVAR:548401 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a69e05c0-7399-414b-97d7-012ee5112f6a CLINVAR:548401 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5b104d1-ed2d-479a-8b42-5f372e010a32 CLINVAR:266898 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c757cd7-98df-40a3-9f31-3823c860b300 CLINVAR:266898 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62b07ff1-fd0f-48a2-b770-cea0475563ff CLINVAR:266899 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0a475da-a981-439d-b972-bbeb3a976a68 CLINVAR:266899 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c19e8a0-3e6f-4e13-bbf3-a2df30f40b51 CLINVAR:51947 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ecabdfa-c307-4fde-a58c-ec1a4b6ba2ab CLINVAR:51947 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c380364-2bd3-45b5-9a7b-1ea708194434 CLINVAR:51949 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 173ea92f-3d31-414c-a252-bf39868467a3 CLINVAR:51949 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72b291be-cd09-4bed-9478-a478dbca429c CLINVAR:91426 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d8bb609-3da9-4126-adf9-03653200869d CLINVAR:91426 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b0a5865-c20b-48c7-b30a-7dc8ff574cfd CLINVAR:441475 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8f7e5c7-676c-4985-bae9-dd84642662db CLINVAR:441475 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11ecdc0b-d5fd-4fe0-a705-35316a73830f CLINVAR:51951 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09858f8e-0da5-4cef-8aba-0c229bb529ca CLINVAR:51951 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1116a72c-d467-414d-b814-0cee1fbf96a2 CLINVAR:38001 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 028f4a98-2d09-4a84-b27e-0ea80edb6ae1 CLINVAR:38001 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e98cfae-5254-45f3-9871-42b004cb64e3 CLINVAR:266901 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bcda892-3f9c-4023-9527-e9fd46fc7182 CLINVAR:266901 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a4e0503-ef22-4b03-83c8-8dbdbe90ccce CLINVAR:38002 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92e9e6eb-13b6-4ad1-9519-74b13bee6008 CLINVAR:38002 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02b68424-6651-47a7-8c61-deefeb24dfc8 CLINVAR:51953 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f38be14e-276a-47e8-8621-9484ef06bd77 CLINVAR:51953 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92d73feb-4841-4b9d-8252-02f50ba92539 CLINVAR:51952 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ba37c80-ffd1-4573-aff9-35979e34fe43 CLINVAR:51952 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4a0c6ba-fede-443b-a6b7-39593768fe45 CLINVAR:126082 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04409a7b-9309-42b1-b783-9d8022539359 CLINVAR:126082 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c692f3af-3cd1-4681-aa06-94b5283e8ad5 CLINVAR:186109 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d8d9db5-bf4e-4400-8d91-6774c9591a59 CLINVAR:186109 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05d7d687-f789-4c7c-8332-27dca72834f2 CLINVAR:51954 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89866e8a-ebf5-4516-950d-922f14660067 CLINVAR:51954 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d3dd95c-c105-4460-a9c6-b9b14ae0da04 CLINVAR:51955 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12a3047b-e558-4e75-bb3d-384610b6a626 CLINVAR:51955 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc58cba0-2047-436f-9256-134816fb4622 CLINVAR:254566 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5bc5c82e-f35b-4b7c-9b9b-d83a85d276c2 CLINVAR:254566 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d52ca01b-2542-4fe6-97a9-9a3c1f0617dc CLINVAR:51962 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5e590c0-6d23-4f9f-a25e-b711584b7ced CLINVAR:51962 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c116f027-a5a7-4e3b-b6ad-0ae92ceb7a19 CLINVAR:51963 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6af4aeca-ed33-4996-8ba8-f80169b5b586 CLINVAR:51963 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9267511-86e2-4309-aaa9-f2fc38acbca6 CLINVAR:266902 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 113d562c-14e5-44b3-98e7-7410ab961871 CLINVAR:266902 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a4d9baa-3402-4659-9c02-021cfb2d1233 CLINVAR:38007 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 304d2264-b6b6-4692-9ec0-a8bb90eb0a08 CLINVAR:38007 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81f3b06d-806b-4a55-963d-362674f65bce CLINVAR:441471 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a74e58e6-6ce1-40fc-baf5-db9f0c216aec CLINVAR:441471 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a5d883c-511a-4ef8-a4ce-b8a16db933ff CLINVAR:441293 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62a82601-f6cb-4392-92f9-62cbfad1db86 CLINVAR:441293 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d064454-8ef7-48df-a896-d6579baa35b2 CLINVAR:266903 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar daa5fd23-35e9-4dbc-9e1a-4f7f725f71b2 CLINVAR:266903 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 665edf1d-e978-4268-bab3-1ba28cc7bc92 CLINVAR:266904 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d6b4b5b-4a56-41cf-8fb6-5a1e6aba53b1 CLINVAR:266904 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62872d3b-2d38-4700-b1e4-123a0ebce3ac CLINVAR:51964 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81d46780-edb4-4ed9-9b51-74b8a0ed6eac CLINVAR:51964 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4b5bf50-19a8-4926-a775-f219c8122e9c CLINVAR:184841 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7144a71-aa92-44f5-b323-7d1c3174c713 CLINVAR:184841 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13e4c308-e1c7-4f2b-a16a-e6c94313f3dd CLINVAR:254567 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d920026a-8446-4c0e-859f-b9b2faed192b CLINVAR:254567 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4880b1ee-f7a8-4c9a-bff1-daa654e0d4f0 CLINVAR:51967 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6eec7538-95a9-4451-b23f-5050c882d889 CLINVAR:51967 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 094e84f8-c884-49b4-9d4e-c0b426936832 CLINVAR:51968 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70f71190-575a-4359-8dfa-30411db4b1f9 CLINVAR:51968 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0d4e4c8-807a-4de5-a59c-787936309591 CLINVAR:9325 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 478e1c50-6c3d-45b5-8125-2681b7a5703b CLINVAR:9325 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 466ae130-81c4-4e21-83a3-7782fc63d16b CLINVAR:51969 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6a81321-f45c-441d-b5c4-4933cac53633 CLINVAR:51969 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a7aa8b8-f5c2-4395-bd64-5f10a46a9519 CLINVAR:51970 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 678ae0ae-f694-40c6-901b-e0814ae88983 CLINVAR:51970 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d16a967c-1256-41d9-bd31-46b674b763a7 CLINVAR:266906 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2310d60-0d2f-414a-a60a-532574e9274e CLINVAR:266906 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23642486-ef1f-4f8d-b840-02b714d51b66 CLINVAR:51971 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ffc5cd6-bc84-4b14-a097-c475c10a1679 CLINVAR:51971 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b4204db-3e1c-46bf-a845-f191361b51b8 CLINVAR:51972 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79383098-6456-4369-a7f9-b24a80f07e4c CLINVAR:51972 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aeef1fc2-f838-40bc-9e60-45b9794591be CLINVAR:51973 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4b162e3-ded5-45fe-a318-7b7e857c8d0c CLINVAR:51973 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e9cc12a-050c-4340-952e-88eb6cec5b61 CLINVAR:234818 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 936fb559-6e9e-475d-896b-56410c1ea530 CLINVAR:234818 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 314a9421-1712-4219-a1d2-93ca44580463 CLINVAR:51975 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a1aa1f1-ca6e-41f6-b977-6e5302980819 CLINVAR:51975 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6cf32a1c-bf45-48e4-b431-5270b3fef1de CLINVAR:266909 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b17633a-b4c4-4cd7-bd42-833d26fe340c CLINVAR:266909 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2f6b94c-18aa-4f64-9607-90633fef7569 CLINVAR:254568 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae551d8c-a997-4638-965c-02ea68cd2511 CLINVAR:254568 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfac49a5-5dc1-464e-adc0-00cd0f602f90 CLINVAR:51976 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b94a0b30-a914-4640-83e4-65d09629eb83 CLINVAR:51976 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83c91cb0-4783-4214-ae6f-5fa6e37ee252 CLINVAR:266908 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc2cc794-e321-4ebb-81a7-39cf66aae3d0 CLINVAR:266908 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f95153a-33fb-4d2c-8c28-4a8bf9a3fbed CLINVAR:51977 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05348430-588f-4b03-8bbd-291766219009 CLINVAR:51977 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cea71826-0d78-4d1a-ae30-0e0808a1f072 CLINVAR:254569 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b60cc0b1-fd99-4d8c-a2bd-253cd0228717 CLINVAR:254569 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 413e9449-1d74-45db-ab7d-77a83abd9032 CLINVAR:266910 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b234f1b0-6e52-4301-81da-1998359ecc1e CLINVAR:266910 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ef8561f-11a8-40ed-b87c-12dfec0102cf CLINVAR:254570 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37b75a28-befc-416e-832a-593869617719 CLINVAR:254570 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ea657a5-5567-4955-b162-35b7d1e077dd CLINVAR:51981 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b2e9bd3-ba5b-423d-a569-2320cf1406ce CLINVAR:51981 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2124b9fa-8def-45e5-a16e-c554a0a0c245 CLINVAR:38011 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 963766ce-1799-41eb-becd-ac519b384174 CLINVAR:38011 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5260103-ba69-4ffe-9d5b-55d8c8a5c0c4 CLINVAR:266911 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09800e94-e1f3-4a75-8687-f31b6db9a045 CLINVAR:266911 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e9897fa-9fa8-4b4c-bb78-2f818f154b22 CLINVAR:51983 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef1a154b-970f-4809-9e66-3a63597414db CLINVAR:51983 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7afe6a4d-3511-4496-beee-bc01d2af1c9f CLINVAR:266912 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2524e6c-9b8b-402c-8044-bf9d8fc1ee70 CLINVAR:266912 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58f0aff7-2bbf-45a0-80b1-7c73cb9f7575 CLINVAR:254571 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aed6e62f-963b-473a-9e39-ca5e064303f7 CLINVAR:254571 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9392878-eff2-4c38-8248-de605a41ee4e CLINVAR:548335 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5981ba8-6e69-424e-b787-a10b6ea1e3f8 CLINVAR:548335 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fce1c45-7f43-4d01-8c31-0405efc21472 CLINVAR:51986 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba09acfe-272f-4925-889b-63ec68b46980 CLINVAR:51986 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06ae7c12-b252-485e-a594-69e036f773d1 CLINVAR:38013 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60fd68ed-267c-42dc-99b3-aaa952e58857 CLINVAR:38013 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f76c998c-4940-4f23-984f-8562f98fee56 CLINVAR:254572 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fb10a34-7131-4fe4-bc36-1ec6e2e31dfb CLINVAR:254572 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 656ed480-08bf-44a4-8483-929e970410a1 CLINVAR:266913 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2736b1d3-32ae-4115-a08d-ecb13ae15228 CLINVAR:266913 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a06e28c-e366-4923-a9ed-e579643ed649 CLINVAR:266914 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c01df00d-f8d1-4455-af20-09519158aa5d CLINVAR:266914 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04f8a450-7539-4aea-ba66-bd780a9aa6ff CLINVAR:373822 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28f6bf81-9787-4531-bae3-d1551e92d5a5 CLINVAR:373822 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac714624-c61d-4b68-a5db-d1592052d35f CLINVAR:266915 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbdfbcb8-7fd9-4727-b6af-74399d87f647 CLINVAR:266915 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14da7bfe-c3e7-45d3-8b27-7f093cb3ba95 CLINVAR:91434 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97508f90-241c-475c-baf1-dc291d124a5d CLINVAR:91434 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ac69d87-02bb-4aaa-954a-0d55082a9166 CLINVAR:216029 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9701e369-4f95-4a25-bdb7-177174c0681f CLINVAR:216029 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2db83e9-0289-4a64-87ee-066739185840 CLINVAR:38015 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5443a33-f182-43a3-aee6-4599fbbc0ba3 CLINVAR:38015 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc5f59da-4b9e-4412-b89f-b6a2fa2b0011 CLINVAR:51990 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9599210-7012-4633-a0aa-03bee54e0c5d CLINVAR:51990 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c563eedc-a929-43ed-b276-3dee9f4fd297 CLINVAR:440429 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e83916c-b049-4540-9ad0-643b1b575257 CLINVAR:440429 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 240dc0bd-254d-4fc7-91ec-47173897dd6c CLINVAR:427240 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce053793-0210-412d-8d78-d50f4f99c793 CLINVAR:427240 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 158c1494-da5c-465e-9ed2-285d88d97ad4 CLINVAR:51993 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7208d9b-0414-4311-a579-8cce7ec69c42 CLINVAR:51993 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 626ad5c9-3360-4ffc-b8c5-75f72feaf35b CLINVAR:548330 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 597bb2bd-85ce-49a0-8bc7-9a6ce7b2c803 CLINVAR:548330 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 40b2c95c-a990-4753-8537-f31cac0c3aba CLINVAR:51994 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5de0a4b0-b1d4-43e9-bccb-06194fff0c48 CLINVAR:51994 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3dad92de-585a-4c2f-b35d-59a67a356d2d CLINVAR:441327 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52f395c5-57b9-43f5-adb1-b6ecb6b0a404 CLINVAR:441327 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba779be9-fc00-4bfb-876c-42122e3efbb3 CLINVAR:233786 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9077de75-afa6-4d60-8acc-6b8ffe7a0c65 CLINVAR:233786 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c77e8d84-f40e-4ed9-ac6b-5d6dcee3f49f CLINVAR:38016 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e6debbf-d76d-431e-8cc8-d8bd160cf5bf CLINVAR:38016 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da6a2438-018b-4e02-877b-ab3a9c83b8ff CLINVAR:156172 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19b53d59-6c58-419e-97b4-a4e93de4f55f CLINVAR:156172 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51277503-f3df-48d2-80a4-34ff4776fb54 CLINVAR:266916 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ed5d4b8-9d94-4bbf-b6a2-ad8ef32766e1 CLINVAR:266916 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf4af7d0-98ac-456c-a96f-50b2ae5d48d7 CLINVAR:266917 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0daa77b-3030-4e1f-ad97-5db8b964f33a CLINVAR:266917 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8923fbfc-16c9-4f36-8cbe-4e4159f38412 CLINVAR:266918 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6890d0ec-d835-44e3-b12c-8ea7e7d8f24b CLINVAR:266918 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2e09e7f-bb4a-4f2a-bf4e-27ad4d7634e3 CLINVAR:51996 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35ca5d53-a963-4168-8936-caa51f89d388 CLINVAR:51996 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad0522cc-8942-4716-bad5-4760028b62bd CLINVAR:91435 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c775ecf2-81f3-45ca-8d05-d1534b033cd6 CLINVAR:91435 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72d53a28-8a25-41ef-a48b-0c791244fa23 CLINVAR:51997 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3aac9cf3-d4c5-4d33-aa4e-7354207ecfb4 CLINVAR:51997 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06a480a8-e7b9-4aae-8684-8af82f7cb2b1 CLINVAR:266919 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78740efb-be7a-4f33-b6ab-b77c805badcf CLINVAR:266919 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b3889ca-83b0-4125-9157-16eae16aee62 CLINVAR:51999 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23ec3641-8845-4991-bb7f-5ce97fcec290 CLINVAR:51999 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 712a527f-65b8-40a6-b6eb-13cf6c302e04 CLINVAR:51998 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b295e16-0840-4bb4-b694-a2a7f757bc93 CLINVAR:51998 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce15e524-0c7c-482a-9da6-7f6a55fbb5c7 CLINVAR:52000 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9ca66aa-7afb-4727-979e-0d5028936ba0 CLINVAR:52000 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 80f4d294-9a5e-498e-b14f-390e6b2be28f CLINVAR:52002 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cac6151c-8eb3-4abe-978b-584bb3b54bde CLINVAR:52002 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab455419-8a32-4103-a76c-3c38f5b00243 CLINVAR:409513 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41481bb2-48b6-4836-b1d5-bbc9f3199181 CLINVAR:409513 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aac051f4-b779-4cfe-b220-bbcc5c1a8445 CLINVAR:52005 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bb9ea41-5006-4047-9488-41ae3bc8eec9 CLINVAR:52005 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ffa64e9-a61a-41b7-8460-3a774fa4bf6d CLINVAR:52003 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52d9ff22-9df4-475c-b765-c6a46f3baae2 CLINVAR:52003 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a414b1f-17bc-4023-a481-5440de5467de CLINVAR:52007 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8eb9d27f-d49f-4858-82d4-c18025332510 CLINVAR:52007 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4307aed-e538-4da7-99cc-6c578cefd9c0 CLINVAR:266921 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33f0ee32-7c89-45e1-8491-4bb66254cfa3 CLINVAR:266921 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ffdbdbec-e85e-41b3-ae77-c178303ea967 CLINVAR:266920 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0114547a-8a3e-42a1-9f98-4763515ac53d CLINVAR:266920 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e59fd76-91bf-42d2-9571-d0b7e188d7b9 CLINVAR:52006 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05438bd4-272d-48a6-b9e9-528a6f55d226 CLINVAR:52006 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c269e20c-fc34-494a-83ae-edfc7977d6d1 CLINVAR:266922 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7588a867-6d03-4d6f-a3d8-5349a897896e CLINVAR:266922 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b04f243a-ff71-4bab-8503-6e27a8f4a98c CLINVAR:52008 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae6e0b51-bb25-45c9-a349-72c8a00be19e CLINVAR:52008 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c8533094-994d-47ee-a59d-3451e5b7b918 CLINVAR:142787 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb773b32-13c8-4a71-b4eb-599e5a323d66 CLINVAR:142787 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c2a7aa5-f3f8-4d7d-bbff-08ef9ecde406 CLINVAR:254573 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 422aafb1-b3a8-4974-83ef-d7dd3dc3b0ca CLINVAR:254573 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8dda1e89-a368-490c-af7a-6112e488ef7a CLINVAR:52010 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f3b01f9-ed1c-4eb1-9626-e2f403a58623 CLINVAR:52010 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4be0319d-a1a2-4f81-8e86-20641da3ab6c CLINVAR:126089 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52bd784a-cd14-4e23-a85f-ee4d933e6dfb CLINVAR:126089 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9692612-4667-45fd-95ba-cb1c71b16bba CLINVAR:266923 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e3e8daa-ef77-41df-8036-401dcc50b5d2 CLINVAR:266923 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0de61081-bd16-46c7-8086-caa54c5c6b87 CLINVAR:52013 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 779d7618-ffdc-4933-9e72-3d172b7ec358 CLINVAR:52013 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4f7c49c-08ba-4e39-a70a-dce0374070c4 CLINVAR:254574 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05d49d8c-16e5-4436-92c4-309a4ddc1275 CLINVAR:254574 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f219037d-470f-42cc-a3a0-8302bcdc4767 CLINVAR:52018 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8e8f67d-dcfc-4994-84cc-e4d552f9bcb9 CLINVAR:52018 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72d03239-f9a7-491e-b4b4-4036a4935038 CLINVAR:52017 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f113aca4-1840-4197-b88c-032cd22436dd CLINVAR:52017 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10821543-5f8e-4f85-a7a0-178b33ccc671 CLINVAR:266924 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38b434f4-57a5-4a1e-b623-c1cf0861f104 CLINVAR:266924 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd487843-1567-4ab7-913a-392b2a604c03 CLINVAR:254575 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a0d914f-6f8e-448e-89bc-c4bc20428ecd CLINVAR:254575 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50ad8210-acfc-49c0-998c-a03d8043fc6a CLINVAR:266926 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0bce212e-0829-478c-9756-8c946686a388 CLINVAR:266926 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82e94e4f-e449-4688-8c1e-d0bc59470f30 CLINVAR:548425 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64dc69d2-5b6a-4fee-a7ef-8e476ea7aa58 CLINVAR:548425 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78215b90-2a4b-4a48-a25f-685d4a5b8001 CLINVAR:266927 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7be0b650-7489-4724-b384-19e23180f3b0 CLINVAR:266927 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d783de1-952a-4777-830c-0f7796f2228c CLINVAR:254576 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee83de64-9e06-4eeb-b594-cd511e8e05f6 CLINVAR:254576 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d8bf554-ed5c-4576-9a93-e2e0f2a95a9f CLINVAR:52020 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0b195b8-5f32-40ec-a780-8161dfb0c8d3 CLINVAR:52020 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5635ba56-abb7-4bbe-9d05-bb74dcf5bda3 CLINVAR:185793 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e18967e-27fe-4605-9e03-04d53ef13f38 CLINVAR:185793 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83e7e620-2bc3-47cd-ad81-062abe168958 CLINVAR:266928 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fcc9617-6642-4686-9af2-85d7fa2baf65 CLINVAR:266928 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4556611-ffbb-4a91-943b-f17808d44f45 CLINVAR:548380 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e22ede28-faaa-4815-b2bd-5ae9837dd72c CLINVAR:548380 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 181d10f4-883c-47fd-b2ed-8a05b36add52 CLINVAR:52022 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2af0b7a-8b74-4032-870c-8a88722e9dbd CLINVAR:52022 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b1ca42a-e876-4369-86a9-babb8a6fcaa8 CLINVAR:52023 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71eaa5d4-0dce-4b2c-8bf0-2e9087278762 CLINVAR:52023 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0dff64a-a890-4107-be4c-4604f2f50f12 CLINVAR:188434 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4961caf-3b8e-4e42-a199-1c4f5fc8fddf CLINVAR:188434 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7398a3f2-0e9c-47dd-afd5-338296447281 CLINVAR:52025 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84e5c386-d60b-4ead-88e9-9da48e3d833f CLINVAR:52025 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ce07558-f85e-472a-b893-d5f553693061 CLINVAR:266929 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9b4f266-1e10-4a24-ada8-e34609d048b9 CLINVAR:266929 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5517763-f7fc-4010-a6e3-f64afc685982 CLINVAR:52027 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e394410a-c241-4fba-b1f3-91abc08a3ad1 CLINVAR:52027 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0dbd903-ce1e-4b0e-aa01-eab1d5b7c5ff CLINVAR:52029 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5b797fa-7057-45e6-898d-1ad6009dc740 CLINVAR:52029 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85ac22f1-54e6-4086-a3ae-74664c711821 CLINVAR:52030 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3164f7f0-99f4-47ec-a259-2b9db3f490c1 CLINVAR:52030 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5cefb81-79a8-4c34-b154-07d902f5aba0 CLINVAR:52031 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9583576a-80fe-4fd8-adbd-4e03e85ae87f CLINVAR:52031 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24ab80ef-30e1-4735-af31-e1b899f458e0 CLINVAR:126091 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c9fd37b-3eb9-4e44-99ef-ae215dbddd96 CLINVAR:126091 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d3e4262-299c-4e8d-b1ab-77b8b3735460 CLINVAR:38026 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8aaf6916-aedd-48d2-b84a-651505544bc5 CLINVAR:38026 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46b4a5ee-de80-47b0-9506-dbc1fdc73f18 CLINVAR:52032 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42a58a63-310d-48c2-acea-3b2408477fe0 CLINVAR:52032 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b940e411-476a-4322-a597-a9fbee600f70 CLINVAR:96834 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ed0a099-5071-48db-9271-6746090e97fc CLINVAR:96834 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f94e90a-a38d-496b-810f-b3408412f39c CLINVAR:52035 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar baf5a9cd-a855-4fe9-8bd9-207570200380 CLINVAR:52035 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7936d337-4c1f-495e-ab1d-eca05d8757cb CLINVAR:126093 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d74a288-30d8-42a7-8742-17c887fbb2a2 CLINVAR:126093 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bbcd7b6b-665d-4bb0-8978-c66a1b15d7ca CLINVAR:409450 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 726afb54-532f-4c40-b1e3-f4857914017f CLINVAR:409450 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 868d906c-d5e9-4e9f-b240-bf1128cc6820 CLINVAR:52036 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d128c83-a858-4245-8b89-8cd3c0c8b0bc CLINVAR:52036 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c8d77bb0-e80c-4b2e-a464-d27b5da9fd59 CLINVAR:266930 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e4c5852-916a-4413-bf00-34be872df327 CLINVAR:266930 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44c48a31-c494-4fe8-bbd5-a22c1374aebd CLINVAR:142889 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bbcf60a-9380-4b19-b8d4-fb34faaf805e CLINVAR:142889 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5269ba05-673e-408b-9869-0a2e84296c7c CLINVAR:236888 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37909c5d-da71-46a9-a51a-02ff385475db CLINVAR:236888 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ba5d364-9d0d-402b-80cd-8625e7940bfe CLINVAR:52037 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81038f69-52d1-4825-935f-57f3af028d05 CLINVAR:52037 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0cc848d-b55a-429f-ba70-8b66f179bf83 CLINVAR:254577 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a22c15c-0393-43e9-8aaa-9fd051cbbf58 CLINVAR:254577 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71c2b0a8-758b-44b5-8690-91131ef895bf CLINVAR:52039 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3ec6bb0-f52c-4a46-a2e9-c852f13b28b1 CLINVAR:52039 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20cdb7c2-65c9-46af-adc0-ec4954bb2f14 CLINVAR:52041 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a321da0f-b71b-46e9-86a1-f91383a26194 CLINVAR:52041 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca5134f4-a7f5-44b0-a43f-142a849d8c4e CLINVAR:266931 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7776b167-5ad5-40b6-a4bd-be696ce8f614 CLINVAR:266931 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09daa542-ba48-494e-84e9-526cbf1ff259 CLINVAR:266932 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1f1d1c6-2091-4b53-b3dd-0684adca8d58 CLINVAR:266932 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c29a68d-150d-43e2-bb5f-2d28393a2767 CLINVAR:219426 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57609f91-39d4-4805-af98-fd3f6ee36a46 CLINVAR:219426 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6cf4e25f-b4a0-435b-90e0-4a39cc9317ae CLINVAR:266933 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ee77929-7db4-421a-989f-43834d36b1ff CLINVAR:266933 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c94e82d9-80ef-47d9-9363-fe2685d69978 CLINVAR:266934 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4f65ac1-2a10-4c5b-9bf6-8eb04308a99d CLINVAR:266934 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05cd7b9e-8d8c-4b26-ab6e-ce3efd88b113 CLINVAR:266935 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a031749-ff73-4ede-be8a-9a9e4f6ca821 CLINVAR:266935 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03cd00f9-4c1c-4f13-a3bc-9c9c6b014bb6 CLINVAR:420701 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e357515-6061-4a8f-b966-4b0e1e637ff8 CLINVAR:420701 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 936deabf-3e8d-4945-bc8a-aa566984ca7d CLINVAR:182318 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31340852-f689-4dad-8fb8-36fdbbab0da2 CLINVAR:182318 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cbcc7864-096c-43b9-b5b8-51eb07ae580a CLINVAR:266936 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12ce1a99-a28e-4c38-8950-9e185e95bd7f CLINVAR:266936 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27105aa7-017c-44b4-961b-abbe917871a7 CLINVAR:230167 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9d18d15-e97a-44ba-acac-2147cf51ab9e CLINVAR:230167 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 832b260f-c3b4-48cc-9613-8bcb8e376ead CLINVAR:38029 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18396cf7-5c22-47c6-a8e4-28e6d39666fd CLINVAR:38029 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7149d5e-8600-4a7a-ad5c-27726cbb8ab2 CLINVAR:52042 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31560edc-3f8f-4cd9-ad1c-6b04365ae185 CLINVAR:52042 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81ef2775-c588-4fd5-adf9-13fbf498fa0c CLINVAR:52043 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c430df2e-b5f5-4228-8df1-0f72f92503b0 CLINVAR:52043 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c246f2fc-1224-4592-b6cd-c6414759f860 CLINVAR:548326 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32577a55-fb91-4a22-bd87-d5fcf8c76e39 CLINVAR:548326 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af4c99e1-147d-45ad-b81f-65dd18da3356 CLINVAR:52044 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0abcc78c-261e-41c9-83d3-04b7e43a17ba CLINVAR:52044 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec737830-f159-42ae-9013-96f596aba9ed CLINVAR:9318 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c40f0e1d-1d2f-4577-a048-5c2cd387982b CLINVAR:9318 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ed605e2-fd85-4556-9a5b-d85da6731fcb CLINVAR:52045 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e9960e7-a05a-46d1-8d7d-fbb64ed9085b CLINVAR:52045 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2808674b-f8c0-4bc1-9cc2-a312c4c479ee CLINVAR:254578 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 072e5d53-3c5e-4278-a3eb-830897792042 CLINVAR:254578 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e53afb30-b208-467d-ad98-52e4c33099c7 CLINVAR:52047 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 797ca09f-a1ad-4fa9-8818-6191638cca0a CLINVAR:52047 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f6c8b7d-d4fb-442c-be95-016c4a70e8f3 CLINVAR:52050 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efd8220f-cc39-4c0a-aab2-8dc7fb6c39d6 CLINVAR:52050 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ccf01004-e95b-438f-ae29-9faf40cbb2cd CLINVAR:266937 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 136f7f24-5880-4e17-bf0b-9037e37b0ac1 CLINVAR:266937 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 30bba295-ae71-4024-8459-04dd736cc8ce CLINVAR:441299 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ac78215-a343-490a-aac4-17f467905c67 CLINVAR:441299 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 789dc370-82b4-4079-92f2-92d49cd0ae40 CLINVAR:52052 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7184816-6e40-4304-9161-5237040f9de6 CLINVAR:52052 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 69869afc-e061-474c-a4cd-0bc52932e79c CLINVAR:141213 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdfdc297-d3c9-44fb-87f4-a13b70c9537b CLINVAR:141213 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29386fdf-4f84-4bda-89dd-f053c1428a79 CLINVAR:266938 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f55bd2d-3492-47c5-960e-36d5b5d0ef80 CLINVAR:266938 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5938aa9f-437a-48ef-9c51-98cbabe4337b CLINVAR:266939 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c779c749-76ab-475d-ae79-c8adebf0d922 CLINVAR:266939 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f70f732b-9ab7-44b9-ac4c-dd0bf3801105 CLINVAR:52066 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7418acd-56d9-4056-a949-a862613c1178 CLINVAR:52066 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df45d4a3-5411-42e7-8ba2-c9a7942cf15c CLINVAR:232206 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06a1a146-0e0d-4a90-a54b-08d5cc8b0531 CLINVAR:232206 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a669496-c66b-4b3a-a893-6106a13a3a44 CLINVAR:141068 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94522710-a12c-4853-9881-1188be3a9dcb CLINVAR:141068 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4062776d-e255-4478-9c5b-cf408a34dc7d CLINVAR:38038 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee9185b4-1427-4b12-a8de-52adafcb9dc7 CLINVAR:38038 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48f232d5-3654-4f81-bedd-bddbd386d7b5 CLINVAR:52069 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cf88b51-daf7-4701-b48e-e21ecbcb0f74 CLINVAR:52069 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3a25aa0-cd28-45c5-b0a9-dbb24cf750a8 CLINVAR:266940 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee62c05e-56f2-44df-9218-16e2b5884fa4 CLINVAR:266940 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d8287f8-f47a-448b-ac7d-1a3931337188 CLINVAR:141195 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49767910-5ada-4c0b-8531-937718a386ee CLINVAR:141195 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f10c11e-2030-4d60-a72e-5c5019469a99 CLINVAR:52071 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa5438d9-a733-4299-91e8-f692271f6439 CLINVAR:52071 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a7b248a-34fe-4312-b7f3-a60707699666 CLINVAR:52072 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc002cf2-56e7-4501-9e2e-6ac0abdda0f9 CLINVAR:52072 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 580c8336-8666-4456-a08b-abf16bb456d3 CLINVAR:231792 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb283dda-349d-43ac-bfdb-1c395ba59dff CLINVAR:231792 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 986f79f1-e4c1-437e-9a77-87aaa2174780 CLINVAR:266941 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38744201-b88a-4b02-a6c1-4fe626588383 CLINVAR:266941 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6df24c48-7c16-41b2-a736-86d1ccd52e1a CLINVAR:52073 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85c78f9c-7699-4f07-939f-edab1ca3d824 CLINVAR:52073 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da86ff70-c0ed-40bc-b9e4-07f961aff846 CLINVAR:254579 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 712729ac-51b3-4f07-bc89-1f0bd0d1eb72 CLINVAR:254579 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5cf4daef-2cb9-43fa-8617-d6ec72a6a06d CLINVAR:187046 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3030af9-65b7-407f-a842-a10a58a97b0b CLINVAR:187046 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 188e930f-a352-4d13-b76c-54e78551abfe CLINVAR:38041 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1de5d6c3-97d6-4497-b886-a47489ddf08f CLINVAR:38041 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e30b80e6-584a-49b8-8b9b-ab21475ce496 CLINVAR:266942 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d433a1c-9c56-4456-8ce0-08748bdbe016 CLINVAR:266942 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5048923-aeb5-45d3-b1e4-8e821c1f65a7 CLINVAR:52075 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5282698-69db-4a3f-939f-50c1c8d4e82d CLINVAR:52075 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 025d66bc-eb70-4c5a-84ad-ae8904a83b8d CLINVAR:438996 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ae397a9-6739-49d7-8d73-2a3311f1a069 CLINVAR:438996 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 857f3d9f-f658-4a9f-8cd8-3341b87a9c3b CLINVAR:126099 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14c7e04c-8e4c-4422-99bd-d9c114ffd6e0 CLINVAR:126099 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41804cb0-7ea0-4a36-a2c9-057d25c033e5 CLINVAR:421570 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4b4520b-0366-43b0-9c97-12509d15bdfe CLINVAR:421570 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60b6ec78-8b0b-42d5-a57f-20e626585e69 CLINVAR:52077 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3a1d733-dd7a-4c5d-a570-c2d247c2c83c CLINVAR:52077 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23a5b9c2-1862-4e1e-b7cf-adba2c88c0c4 CLINVAR:266943 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 330e731a-f12f-4417-aa24-8e0de9c3b65d CLINVAR:266943 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df82cb23-95dc-4704-9195-55919578fc0d CLINVAR:52079 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d530a6ef-5202-49e6-ab65-91c74a6c492f CLINVAR:52079 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 597f0e74-aff2-4e39-8b38-e6abf11338ac CLINVAR:91447 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b88a683e-5c95-410f-98a2-3ffe59ead59a CLINVAR:91447 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6559f81-1574-4450-a2aa-25325d315b5f CLINVAR:254580 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84b8b4d7-b689-42db-8a27-8e6ebe9a807a CLINVAR:254580 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 40371492-6f42-4704-a127-8c00f84f219f CLINVAR:126100 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57975190-a9b6-42a4-a47d-fe149db87944 CLINVAR:126100 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 30c2c0bc-85ac-4a38-bcca-7b682e8c017d CLINVAR:52080 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 604979e2-843d-48d8-8594-eb2802c643a8 CLINVAR:52080 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03f54567-070b-448a-bdd5-fdc8de266240 CLINVAR:479358 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff9ca6e7-be8f-4c79-acf7-afc2627272ee CLINVAR:479358 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af8de975-1042-4902-bcce-d439b35ec281 CLINVAR:266944 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e68f4a73-8152-4756-9e8a-e3402b0a3589 CLINVAR:266944 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a170f432-3b52-4944-b5e2-cc2f929df976 CLINVAR:96838 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a8ea9f8-551e-4d26-b07c-bb5d5aeaf92e CLINVAR:96838 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ed5c984-b1da-422c-8e3e-10b0d89137fe CLINVAR:52082 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9d111d3-8a52-4b6c-8d49-3ec53fbe57f6 CLINVAR:52082 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0e050ca-2e07-44ff-92de-ffbb70b774c5 CLINVAR:38043 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90ead8e8-3e63-4ede-b188-41b1126a3b7e CLINVAR:38043 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e22c6ae7-513d-49d4-bc76-90cccc45c2f7 CLINVAR:91448 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3fb7e0f7-0d99-482a-83e3-280dde900a3b CLINVAR:91448 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1092b5ca-6389-445c-9809-86a34db123d1 CLINVAR:52084 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0607aa62-9996-49c0-937f-4aadbc7359a5 CLINVAR:52084 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1b6cb5e-8200-4879-be1e-ab9cf59cc1cb CLINVAR:52085 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 166ac57a-62a3-4efd-a190-02bf3d056f97 CLINVAR:52085 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4cf31151-bebb-417a-9f28-85eed3ace1eb CLINVAR:52086 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83c4610e-5cce-4a91-9a5f-7f49cbdcd392 CLINVAR:52086 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a850cca-5339-4528-8bf5-dc87e7fb9190 CLINVAR:254581 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0199029-699c-4214-9b13-daab33fbddc0 CLINVAR:254581 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34bd2cd4-d4d2-482c-a8ed-9bfd1e544bc8 CLINVAR:266945 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1da40b30-55e5-4b93-9c72-3be6a172f43c CLINVAR:266945 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ccd65d9-2aae-4f62-8c93-69f0607ce005 CLINVAR:266946 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2e3d192-4c5a-4cf9-9977-66990adb98e7 CLINVAR:266946 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05ff0b15-1277-443e-8e2a-a6e6ac6b1595 CLINVAR:548392 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d529e1c9-becd-4d43-a90a-8a596ce228b3 CLINVAR:548392 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24909036-5691-472c-a223-7b55bbb6f5ee CLINVAR:52090 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ec0f957-cf15-4528-9167-5cbf4fc6cfb2 CLINVAR:52090 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f00aff5-d83c-4f51-9246-f2bcf0c504c6 CLINVAR:52091 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43213d80-580f-4144-bcad-89c0f65590bb CLINVAR:52091 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ceae653f-7743-4fed-91a5-f606d14f783a CLINVAR:52092 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 096a0bba-72f2-4b8c-8c52-e56d25abb65f CLINVAR:52092 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 501de9cf-f00b-494f-9ba0-326eb09ff043 CLINVAR:236892 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 372a55d0-8df8-4866-ac2c-092cddca3429 CLINVAR:236892 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c617cc42-e788-439a-9049-fc68c6d599a1 CLINVAR:266947 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a766c43-8d25-4322-b9f4-5377ad67ede3 CLINVAR:266947 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbfb96e5-5d23-4c79-8a1b-4d0129c66242 CLINVAR:254582 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc8e81db-dcd7-4951-9449-9973f961d2d1 CLINVAR:254582 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88cb9c42-8e44-4dbd-a6dd-73f486d240dd CLINVAR:38044 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar feb9f0e3-35a1-43e7-8695-ed6f3740900c CLINVAR:38044 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f296c497-f21c-44e2-a634-07cadae10016 CLINVAR:52095 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97b02f3b-9e6d-4168-9158-f382330f1aaf CLINVAR:52095 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d14c7c3-098b-445a-9ab5-afb7f58638a5 CLINVAR:52097 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68d0b6ce-9641-44cd-9587-6779a5a9bcf4 CLINVAR:52097 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d5886af-dba0-4a72-beff-011de679f1bb CLINVAR:38046 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ede12a7b-1378-4b35-9c9d-e71a9b85a9f3 CLINVAR:38046 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 043560a4-651b-4a41-b85d-e1c4a406fed3 CLINVAR:91449 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5731b19a-730a-463b-bcac-c0b0887c8563 CLINVAR:91449 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfcdb6ae-4a61-4521-acb5-11d12cf7fb6c CLINVAR:52100 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa251447-947d-4b5c-86f8-a11723fc655d CLINVAR:52100 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa5015dc-1be9-4e8b-984b-20eb6d1a982a CLINVAR:52098 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6fe388bb-138c-42b4-8da6-1352d5459ff2 CLINVAR:52098 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b24ecec-72d4-4b63-a79b-58184a0cdee1 CLINVAR:52101 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f41c7ab9-f417-4ebd-b8ff-d314ac332ee4 CLINVAR:52101 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48d1461d-645d-4d39-94d8-492848a553a8 CLINVAR:52102 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f33df8e-8e2e-47a9-9580-71546f4c3ce3 CLINVAR:52102 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8212315-7d97-489e-af46-72f4c5a235c0 CLINVAR:266949 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dedbdc38-8569-489b-bdc8-1ba7d36a1a08 CLINVAR:266949 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3939edcd-4152-4ab9-9e9a-167616f8c041 CLINVAR:233457 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3e4a20f-c67f-4199-ad5f-7af9de632bb1 CLINVAR:233457 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3480f94-6675-4ee7-be0d-c0a7368b60e5 CLINVAR:52104 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1467643c-ab09-4905-8057-4e21ce8ee289 CLINVAR:52104 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6741e200-8d9f-47af-a1ca-686b07e7c78a CLINVAR:52103 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6014fa00-33d7-49e4-ae81-bb81d680d2b6 CLINVAR:52103 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 887b6d54-0420-4865-b363-90143d4901c8 CLINVAR:52107 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8489c253-01a4-4616-ab2b-9db7395ece92 CLINVAR:52107 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 751dc0e8-b0e5-4bc4-991a-bdfc37e43ffe CLINVAR:254583 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19119c20-45cf-412e-af7e-e37d26261c69 CLINVAR:254583 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb2f3d52-52e5-426e-a8ca-a2989769c9c8 CLINVAR:52105 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e07408cc-1655-40ea-8509-bd950646d57c CLINVAR:52105 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37e50745-77b5-4ac2-9782-859aad42c44a CLINVAR:126102 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15141fec-5b05-4634-b3c5-cb5987f08c96 CLINVAR:126102 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5886ec69-d671-4e87-9641-ea67ad8b8746 CLINVAR:187346 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bd43db1-ecb9-48b8-a097-6cde54b437b9 CLINVAR:187346 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39bd2aa0-4f89-4da0-9890-34d880ea9118 CLINVAR:433803 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cca3e5b6-ccd1-470f-b7d9-8d5ce03de1ee CLINVAR:433803 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fd0dba1-2c60-4aa0-8bf6-51ea08ac8dba CLINVAR:38047 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b58ce3ec-e004-418c-ae5b-33df46e1b8bf CLINVAR:38047 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1bd2ae5-f9e9-4cea-860e-995854f8eb5f CLINVAR:252446 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b7e5416-ad0b-4d54-ab23-b54ae4a823a8 CLINVAR:252446 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4cbb3116-57e4-47ad-be90-1eea771d6cf0 CLINVAR:52111 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6768e59a-15ac-43b8-976b-fa3e228d4c14 CLINVAR:52111 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb5566ca-13ae-49db-9ad0-a4d508242e52 CLINVAR:52112 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2375503f-0ec0-422d-9d37-6d9d83d8b8d5 CLINVAR:52112 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c79efcdb-b3b5-4ad5-b923-e6292001d8ff CLINVAR:438998 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7504fec0-bca0-4b89-b576-456350d297d9 CLINVAR:438998 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a294e5b-f40d-4ebb-984e-a98ef295fab3 CLINVAR:186784 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7143b48a-0750-457b-b5c3-7041e4f72ea8 CLINVAR:186784 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d85dfb4b-9ff5-4494-9542-d24518f0f79f CLINVAR:266950 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0940b93f-c0b2-4c06-a046-8153dd08afc3 CLINVAR:266950 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01636baf-19cc-4a8a-a882-81710653e7c1 CLINVAR:418845 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c95f8bfd-9a27-4132-9d18-6259d0377cb7 CLINVAR:418845 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50a1f2c5-5728-4c40-ba63-dea3b63ea94e CLINVAR:265058 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9d6901f-34a1-4025-bfb3-3820132d7850 CLINVAR:265058 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2162607a-9791-4a97-aa84-ebabc7f9728f CLINVAR:38048 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64a3577c-409b-45b7-9a32-cacd6524962a CLINVAR:38048 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db597d34-7c28-4430-885f-44ad7a74503c CLINVAR:266951 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0916eea-430f-47be-a4d4-216174f24a96 CLINVAR:266951 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14e7fa7b-bc5d-4af2-8ee7-7304298c3701 CLINVAR:91451 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b892e44-e28f-4c30-abe8-23636cbe9217 CLINVAR:91451 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0506a570-123c-4758-a270-7e0abfcad95a CLINVAR:52115 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87fbf36e-92e0-45d7-902b-2fedb5194439 CLINVAR:52115 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 505f0627-2bc0-4e44-abf0-b82409d955f7 CLINVAR:52113 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7335ef05-2b01-4f4b-8042-6934ac62503a CLINVAR:52113 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d90fb29a-4706-48ee-a8f1-28d411a5a50b CLINVAR:431328 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c9ff468-ec9e-4805-819a-bd4521d17683 CLINVAR:431328 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c332f3b7-4d62-451f-8f00-288cf91a1382 CLINVAR:52114 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e13b0c48-df32-4cba-b92a-cdf6a25f44c7 CLINVAR:52114 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efcd51e8-61cf-47eb-bf94-221ca728786d CLINVAR:52116 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8096b5cf-f8e0-4569-80d8-e3a901d1d587 CLINVAR:52116 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31b3e460-16ac-4794-8244-d220cb1fef1b CLINVAR:52117 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17512d44-6dd1-4324-8224-18ac4f9065a0 CLINVAR:52117 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fad83a76-c202-4948-84b5-283b194d265a CLINVAR:52118 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fdd1e816-1b19-482f-a824-1e133a7603d4 CLINVAR:52118 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f8de454-0159-446d-8cdc-58c76dacf163 CLINVAR:266952 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a67551d-48ca-44db-89ec-fb31580b7dc1 CLINVAR:266952 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63590715-0546-46df-ac56-c998953f8864 CLINVAR:266953 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de84aea3-24e2-47f2-803a-ea77aa02966d CLINVAR:266953 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdd68611-503c-4150-8e9a-01a5fc7b2305 CLINVAR:266954 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa714635-400a-424a-8801-8d35b560811d CLINVAR:266954 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c300311-9151-4257-8fec-5c91af7689a8 CLINVAR:52119 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d36d41d-8f8e-463d-88fc-323fd70e6feb CLINVAR:52119 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ccc88cb0-24be-48ff-8718-2f0939cbec5f CLINVAR:266955 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c44654eb-9bbc-401e-8d78-47cbb280bd93 CLINVAR:266955 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27ca4c89-82e5-4ad8-ba19-65c0aeafc93d CLINVAR:266956 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca174b33-adc2-4e8f-ae9f-92c658b7c813 CLINVAR:266956 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b86c0180-8123-4067-a9e0-d50dd836caaf CLINVAR:52120 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54ecaf09-1935-4f38-b54b-c42ebdbf3220 CLINVAR:52120 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79a2076b-53da-42f4-93aa-5d8c7352deb1 CLINVAR:266957 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8205a1df-5f0b-439c-bcce-76b24f399d93 CLINVAR:266957 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f363fe7a-9b84-4285-a16c-44e721bf40a5 CLINVAR:52122 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98944089-fc66-41e0-8454-0a65e81fe636 CLINVAR:52122 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c56c62fd-1aa8-4e7d-b8b4-26f29d5dd3f4 CLINVAR:266958 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4d32b3d-4dac-48b8-ab95-7a261e86ad5e CLINVAR:266958 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2e4b7e4-4ab2-4a29-9fef-f8a2f970ce6e CLINVAR:224440 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5849651e-84c6-4659-b5f1-b1d6173134ee CLINVAR:224440 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0609f98d-211b-4d0a-b3bb-ae283a5d10f9 CLINVAR:266959 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ab1fb37-aea0-452c-9d44-9a51e3a5b439 CLINVAR:266959 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e802029-cf6a-46aa-bc3b-0406808eb19c CLINVAR:548341 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57967e4d-2419-43d5-8733-36c2564a0ed5 CLINVAR:548341 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9802648-180a-4da3-b29d-5cdb2e9c7add CLINVAR:126109 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad6f7e50-fe91-46f8-94ad-863a01ba4113 CLINVAR:126109 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf1b1b3d-09d5-4f31-9a05-c8bdde7148e8 CLINVAR:38050 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b32efa25-94af-4f5c-828d-aa4678c9e2bb CLINVAR:38050 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0a2aef4-c48f-4bfc-977d-dac88cf8e99c CLINVAR:266960 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0c8ca99-620c-4a8a-b09d-7e87224ded98 CLINVAR:266960 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4775e8f-bfe0-4e11-821c-10e5e2e0417f CLINVAR:266961 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9a70bf6-207f-4f96-a20d-62adcbb61c24 CLINVAR:266961 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4568e2d8-c389-48be-aaef-5eb567a1b90b CLINVAR:52125 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9521efb7-45c3-433f-872b-00b10e25c661 CLINVAR:52125 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ebf8ab5-61b1-469f-b29d-4b65e203a701 CLINVAR:373829 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7452dc73-83c9-4ec1-87b9-6b8d376be6c4 CLINVAR:373829 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf47b6b5-8f22-43ac-ac94-89a967188497 CLINVAR:52127 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8807cf8-7ea7-4789-80dd-352bd85ef2a1 CLINVAR:52127 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d14261fc-0cea-4f4c-859e-2e9cb894ab2a CLINVAR:52128 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 997134ff-c0c8-4670-87eb-6c774ebbb7e3 CLINVAR:52128 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62191fe4-85f4-4727-9cc0-2d2acae3edbb CLINVAR:266962 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31c77849-fac1-4d00-a4cd-d688fb6149ae CLINVAR:266962 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5db67a3-a471-41b3-9898-b18b6526cddd CLINVAR:38053 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97177028-ee86-4381-bba3-c3b257a1f100 CLINVAR:38053 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7de98506-1528-4cde-8a61-b239c961f817 CLINVAR:266963 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6228eb04-66ba-4ee0-8f9d-aff8a6dfa044 CLINVAR:266963 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08c0a322-efe4-4afc-994d-d67af7ad7b03 CLINVAR:233840 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2b955f0-58bb-4665-9ffa-a59505868327 CLINVAR:233840 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03520280-2bda-4969-b33d-2242625b2177 CLINVAR:409434 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b2ce0c8-adb7-4a31-8a7a-1585ad464ca6 CLINVAR:409434 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd8fa049-495b-4944-962a-509c9111ddaf CLINVAR:266964 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4683fbd-1532-4ba9-aa4f-e3319121f48d CLINVAR:266964 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2d775aa-a687-40fc-bbcb-3c980126e102 CLINVAR:254584 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ba046ec-2baa-4b9c-968f-42da937690e7 CLINVAR:254584 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85a1bc6d-26da-4e3c-8b31-ead025ca715f CLINVAR:266965 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 704cdd13-b49f-43d7-8dde-729b18530138 CLINVAR:266965 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 032d2ded-4c80-4f20-a895-219121cdcd00 CLINVAR:266966 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34fd9b9b-fbf9-4828-9ecd-a3afa7bf2324 CLINVAR:266966 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d1ef340-7693-4d52-8caf-f429aedea0fc CLINVAR:52130 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1031e8f-ff25-4967-aa99-c556bc702492 CLINVAR:52130 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68d5e2f1-dee6-4a77-b978-7ac6c34fdd57 CLINVAR:236280 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7787a0d7-ad74-4e49-8dd2-04175f6014f9 CLINVAR:236280 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f803e93-62d6-4ed3-bca1-7d2aea043d15 CLINVAR:91453 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1d8a1f1-5f1f-4471-ab6a-3bb49cb0277f CLINVAR:91453 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a3d6728-a1cf-4eb4-be94-85a0e11ece94 CLINVAR:126110 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e254441-7b5b-48bd-9c0b-93d25549b010 CLINVAR:126110 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a2f5f3f-bbfd-40f0-986f-503a9441f93f CLINVAR:9319 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb858509-e0fc-47d8-9858-7548069246bb CLINVAR:9319 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c33bae58-4ad7-4698-a023-73060f4e7ebb CLINVAR:229950 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75a58043-9139-4d92-aeea-bc7cee8f56d1 CLINVAR:229950 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6dafce99-f954-4f10-8c87-2659d631ec10 CLINVAR:52132 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b40f531c-e0fa-4de9-904a-23da6c0934cc CLINVAR:52132 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a36e56c-5ee5-44d4-b480-6694aa9c5397 CLINVAR:52131 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 918517f5-6566-4fe3-bd58-14f585133f9c CLINVAR:52131 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 501bdb2f-7187-4ece-b76c-02a12ea4fe72 CLINVAR:96839 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99c682bb-b3d0-44df-8018-9852639bedd9 CLINVAR:96839 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fe199be-79ee-40b4-b90e-3d91f54a9d02 CLINVAR:52133 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b12392d-4864-4124-b6f0-7b9e0132c32d CLINVAR:52133 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f29a8c42-1bcc-48be-85dd-79f732eb4b6f CLINVAR:440424 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 154c482d-02b0-4bcf-8d1d-043bbb1de1e4 CLINVAR:440424 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 19caf7f5-3fdd-4540-907b-c9ff6ebea1da CLINVAR:254585 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85a813fd-e37b-4ac5-b1dc-c4a9061517f7 CLINVAR:254585 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f58b0ac-10ad-4665-97c3-4e1ecea4f0df CLINVAR:91454 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a6b1203-2863-42f9-96d7-159ae3a9494c CLINVAR:91454 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b33a3b92-81de-4e7a-9d22-ef7637af2458 CLINVAR:52135 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abef19a8-51bb-4eda-965b-d9fdb20b582b CLINVAR:52135 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5a6c926-3904-4c37-8f7a-e8ccc2ef897a CLINVAR:266967 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3f8b79e-861a-43f4-b675-ed0d7fb21f42 CLINVAR:266967 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f83bf871-8f70-45b3-9548-a572487df390 CLINVAR:52136 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f37e7c2-23af-4a8e-a9c4-d4e80e2bcccf CLINVAR:52136 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67da6304-cc50-4af0-9a5e-40b9707dfff2 CLINVAR:52137 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7dda5f4-fe2c-494e-9dad-f09326450381 CLINVAR:52137 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dacadf81-1e09-4c12-8579-763423dc343c CLINVAR:52140 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1673029c-4f06-4cbc-b9a6-40c0c73b2ef9 CLINVAR:52140 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c38b9ab-dc52-4637-b96b-bf69bf5ed42b CLINVAR:52141 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c953b8d4-5c21-41be-bfb2-cc8f2d171a08 CLINVAR:52141 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b6740505-62fa-46a5-84c8-0cf1f3849aee CLINVAR:52143 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b451f1d-c193-41b3-be60-90dfbb974e99 CLINVAR:52143 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9164f1d0-e46a-4496-a86b-699f5bf753a0 CLINVAR:38059 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81242ab1-e1a6-440a-a210-b15c31145465 CLINVAR:38059 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0eb8ca3-bb36-4718-8f81-3e23a3bcfcc3 CLINVAR:52145 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd2c64d6-263b-4a81-ae93-8bc40589b2c9 CLINVAR:52145 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59a521cd-e1d2-4eeb-a78b-5270af020ca9 CLINVAR:254586 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71dd79ec-b9de-4a1f-b762-1b60af9b4cd6 CLINVAR:254586 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a5f0b9f-d8c5-47df-8398-a0daddf51a6a CLINVAR:52146 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c77e3e98-5396-409a-813d-29ce2cf5cc98 CLINVAR:52146 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33ba6ddf-e3d7-40fd-91a0-d84098e1d976 CLINVAR:38060 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbee94b2-0cb1-49cc-a019-77d7ca70dd07 CLINVAR:38060 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47ee4ec4-8d33-4e7c-8d33-099272534c29 CLINVAR:254587 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 903cb11a-4800-4811-8a58-5beb3baa004c CLINVAR:254587 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 998e05e5-96c1-47b6-b73a-8ee83cf6565f CLINVAR:266969 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1936848-802f-4926-9aa3-0c3f8ae9d96f CLINVAR:266969 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5212ad6a-ff16-44ec-b13c-2420c8ff4bb5 CLINVAR:126113 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96291bb0-375c-4175-92de-848b363a6bb0 CLINVAR:126113 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a19582c-b243-428c-8015-2f912fc80a75 CLINVAR:427241 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b31dd5a3-0628-4a1c-81c3-11432609aa65 CLINVAR:427241 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 394876c6-749d-4f4d-99ba-93378972c744 CLINVAR:52148 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ec0daa7-2afa-42c9-9d8c-f2439ec8b2c7 CLINVAR:52148 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ca7e3c0-a300-412d-836b-5011228a6b5f CLINVAR:427242 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8517d48d-a2c7-41e3-9fed-9b38a8a6d0e6 CLINVAR:427242 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42ef1d60-5a86-4b88-9fa8-dfd9ea9bbfe8 CLINVAR:52149 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c60419b-6e38-4f91-a018-0f6b1b2c1a9f CLINVAR:52149 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29173a2a-edf7-4ac3-951e-61467c503b5a CLINVAR:52150 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e732fc52-79d8-4995-aa4d-284bc75bba1a CLINVAR:52150 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc60c283-de39-405c-8a83-89a34b25ac5e CLINVAR:126114 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5a9c3d7-28a9-4925-9c18-de13fc666d06 CLINVAR:126114 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45c6e5e5-f3bd-41d6-b871-e6cf9e5a3785 CLINVAR:420953 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f35012b5-20f4-44af-b47f-1cbc2626e35c CLINVAR:420953 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9481c9f-b565-4824-a8f9-51947cdaecd0 CLINVAR:548374 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b2196d9-03d2-40be-98c7-45289f801519 CLINVAR:548374 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee0c0d89-d428-4f19-aa12-3ebf1d478d53 CLINVAR:185417 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ce045ad-9a85-4f52-9ac3-fb74cea19d54 CLINVAR:185417 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0fae24b-de40-46a1-bf8b-f46577ba6b17 CLINVAR:52152 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c186bb4d-609f-4916-a053-b7f943bac69f CLINVAR:52152 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d527b767-aa0f-42e8-95a0-7534e83b6ff6 CLINVAR:52153 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ebf3b84-abc2-4c45-a8ce-acab4c3458da CLINVAR:52153 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a1fffd4-74e6-450b-b2e1-494ad0062075 CLINVAR:266970 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bddec11f-3b1d-4355-a502-3067c414ecf7 CLINVAR:266970 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe680ca9-bb2d-4f38-b333-07eabee888b0 CLINVAR:52154 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbc89b25-a4f7-45a8-b9b1-6d23ed709022 CLINVAR:52154 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be6c0b64-1223-4a2a-91b4-b9540261ee60 CLINVAR:441419 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 051bad5f-3203-4ea7-9445-6b61153f54a9 CLINVAR:441419 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1bdead76-e634-414e-9ec7-12cfc1307b6c CLINVAR:52155 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0e4e44d-613b-407d-aa36-e4e21ab3048b CLINVAR:52155 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86eb12d7-3da4-4936-8854-36826a9f8742 CLINVAR:52157 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6e5ba58-d30b-449b-a353-94a443fc2bdd CLINVAR:52157 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc95847f-c62c-4a41-a7f0-230145528b17 CLINVAR:182231 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eaf4e7fd-3293-47f5-a791-89cd1d9ab618 CLINVAR:182231 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e1a26dc-5425-4590-b1a8-89f97f7a192b CLINVAR:52158 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20a92e31-2532-4816-bc2f-6d181d444972 CLINVAR:52158 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1922edec-81cb-4980-9217-412b25c944ad CLINVAR:254588 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar feac0b30-46c2-47c2-9201-befd1e89d3a4 CLINVAR:254588 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbc1f6b9-ae7a-46c1-8d66-7ea0ee6dc1c2 CLINVAR:236281 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70fdc343-53ba-4391-be1a-36b353354e61 CLINVAR:236281 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 616ebd83-adb6-4c12-ba99-2a01b6f01343 CLINVAR:266971 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97af523f-5d92-4a65-bbec-10fec5b83758 CLINVAR:266971 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb1fafe2-ef80-4709-80eb-f5bf182fa98f CLINVAR:233640 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edfada1d-621a-47ae-bc60-b12b99f6258f CLINVAR:233640 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 178a3370-f18a-4b1f-a29d-c50bb521fc55 CLINVAR:141129 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8326aa21-0c39-4da5-bb85-08013bae2ba5 CLINVAR:141129 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b265adfb-57b6-43ee-a6e1-50a4b250eeb9 CLINVAR:142717 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ced86e4-a31a-45b5-a3bc-9ff7e54bf127 CLINVAR:142717 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 220eee6c-dbe2-4d96-be9c-44de2a7e203f CLINVAR:52168 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cf6055c-e2df-4ca0-870b-5b7e0787e4c3 CLINVAR:52168 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5670312d-5791-4b15-b2f9-fe52646c4462 CLINVAR:266972 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e4b7f34-4c11-4a21-a3af-5740cf75420c CLINVAR:266972 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea5dc920-d380-4894-b5e2-63f6bb8bc7e1 CLINVAR:548373 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aaecbbd6-c296-4852-9800-dce2b706ff1a CLINVAR:548373 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d07b2acd-fb64-42f1-a00c-7dad6eaea994 CLINVAR:38062 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f90eff0-0939-4395-a2f9-bf6ef9733680 CLINVAR:38062 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbe9e969-a62e-425a-b7ae-1b35317f6199 CLINVAR:265059 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0e4b4ff-f2f1-4903-8bd6-1a402f09580b CLINVAR:265059 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1a84191-d1f0-48fe-85d1-2d95464356f7 CLINVAR:52171 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0616ac03-00b4-476c-8e41-e7f953335acf CLINVAR:52171 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1576ba36-17c3-477e-8261-0adb4faca337 CLINVAR:266973 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49e323a4-9288-4b94-a8f6-e012d27ebacd CLINVAR:266973 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc71042d-2c17-4446-8ad9-c5da3a117758 CLINVAR:52175 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c3d218c-8ae4-4fcd-b850-491c7f5114cd CLINVAR:52175 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7bae5bec-12d4-4a33-990b-92e21398fc5b CLINVAR:52176 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 702d3b6e-3a7c-4de7-b4e9-e759b43d50ea CLINVAR:52176 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e57aef41-0916-4909-baaa-3641d2ebd610 CLINVAR:266974 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7191772d-8cb6-4454-9136-3fd4c45bf660 CLINVAR:266974 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41c1cfbb-8e24-4b61-b6c7-ee14d3e7afeb CLINVAR:52177 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8249e7fd-fd33-4dee-bffa-4e95e46fe730 CLINVAR:52177 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0338a3c-6da5-4433-b323-b5c3242bcf26 CLINVAR:254589 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d958387a-809a-408a-bc39-a12e126ae8dd CLINVAR:254589 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 572cec19-eac5-4aac-8abd-406d2e5d9d40 CLINVAR:245827 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbbc31b3-75b1-4545-b7b3-6abf65be4ebe CLINVAR:245827 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 307525c2-4277-4010-8db7-6609f033e63f CLINVAR:52178 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4f42a24-2186-4573-b940-30e3851a074a CLINVAR:52178 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d293c74e-3d86-484d-adae-4bcccc7c4dba CLINVAR:254590 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34485d0f-79e3-45aa-a851-65750a89c269 CLINVAR:254590 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3560e90e-e3e5-4408-a43c-df76cda8b047 CLINVAR:52180 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a8aeecd-68aa-4891-a555-e2d0477979b2 CLINVAR:52180 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e3fa349-9c4a-45d9-a28a-5cf552b10779 CLINVAR:188435 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aea9674e-eefc-48e2-be93-f4e22413105c CLINVAR:188435 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1edbe04-ac4d-4bf4-9987-02eb65f6f3b7 CLINVAR:234042 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26cd9847-83cb-40d1-b11a-c231327f6b2d CLINVAR:234042 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5e6cbac-3eff-4f21-bd75-bc728f6c62b2 CLINVAR:52190 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ecd06ec8-57e6-47a3-85c1-1e49b6ffadd7 CLINVAR:52190 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43572b34-8be6-4666-b6af-8f3ab6f2304d CLINVAR:52192 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2205a6b3-c6e3-4fd6-b501-04671f2d2d19 CLINVAR:52192 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e943f2e0-7ecd-4274-ab75-cc8619fd7767 CLINVAR:52196 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aded6550-70a3-4162-8a06-7cc2ea3f2f63 CLINVAR:52196 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e07c439-7a6e-481c-984c-6b57bc062ead CLINVAR:252425 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2632391e-42fc-40f6-b830-9bc0bc1cac48 CLINVAR:252425 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f00b32a-d5d9-4aaa-bbf3-6f29d0b45ed7 CLINVAR:141509 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5590737-520b-4e16-aa83-c64ba412a717 CLINVAR:141509 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5da00897-4fab-4c85-8cc8-2d94692a420c CLINVAR:52197 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f356f825-52fa-4a07-b325-b0db04a734c8 CLINVAR:52197 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0e6ca48-15fe-440a-844f-18eb0aac2a13 CLINVAR:236282 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e14073a4-7253-414d-bbfc-44bf98f8b34b CLINVAR:236282 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c8716389-0003-409f-8c33-c02dd1f83dbf CLINVAR:52203 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7370ff32-0498-4ce2-8b01-c54e4fa64a87 CLINVAR:52203 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b5a8f00-452a-4c06-8708-fdda3d4b8c2d CLINVAR:141082 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bcbdf826-8558-459c-a31c-45dace0f50e5 CLINVAR:141082 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4bcedbd-5951-4bd3-a928-b6d20ee88867 CLINVAR:575178 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb3767f0-0c73-41dc-92f4-f5fa4ce7b251 CLINVAR:575178 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd4a1c72-ea34-423c-9c4a-c1f8ac113ad4 CLINVAR:52222 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4104b6b5-2221-428e-9667-a0cca66f4371 CLINVAR:52222 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f6645d9-7d71-4c60-8708-9818a01a05bc CLINVAR:38074 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7911f289-5d2d-47a7-9f3c-ca262009e017 CLINVAR:38074 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ead2d1bd-1f84-4bc6-ba43-83f9c707124c CLINVAR:38075 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b234fb1-16fd-40d7-b851-6f6b422e4423 CLINVAR:38075 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef23eca8-e2f3-4074-a8b8-3f5fb01a8b9e CLINVAR:254592 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9ce5b37-eab3-4323-8cdb-c6e2650829a8 CLINVAR:254592 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7cdd811e-4303-466e-940a-8493d834941b CLINVAR:548357 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6724e5c1-a49f-4c59-aaea-c925721014b7 CLINVAR:548357 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0f81f94-cf3d-4338-bf2e-73ef0bba7492 CLINVAR:254591 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4ca22be-70dc-4a0c-80d1-a3606f33a68e CLINVAR:254591 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4550511c-8f36-4de4-9701-a146ecab5889 CLINVAR:38076 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16ffea14-5893-4585-ada4-5c9dcb8075a8 CLINVAR:38076 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4c42a15-4549-43e8-a411-4faf41d63026 CLINVAR:52228 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a73f7b32-75c0-4c14-b3d9-a4d3f7ddb6b7 CLINVAR:52228 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ae92aa5-473a-43f0-9ba7-dd898280c34b CLINVAR:96844 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b4f68f9-9d3e-44a1-856e-febdee69b948 CLINVAR:96844 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9602e8ed-d424-4da8-aae1-3bfb7e723bb5 CLINVAR:266976 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5adfbafa-6105-4335-a8e7-ef56cf0a4c8e CLINVAR:266976 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83d4153f-175f-407d-a479-674f3763ce43 CLINVAR:266977 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c69b0eb8-be02-4b7d-bfa3-94b7ad7ba3cd CLINVAR:266977 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 473c6d1b-6fa9-418a-9b39-7215acf3df50 CLINVAR:252419 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b25e521-69b7-4a89-b1a7-3cbde3ef2f8e CLINVAR:252419 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 003d2ba3-d874-4fba-9d7e-497fc7acda85 CLINVAR:254593 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9058dd5-7cc3-4ea3-a949-ed9d2197b110 CLINVAR:254593 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0945415-fe64-4962-800f-f3d4fab3492a CLINVAR:421487 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa2a923f-a5fb-44f9-af90-27e8955fab79 CLINVAR:421487 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5091000b-6238-4bf5-b83f-82ea501a61e8 CLINVAR:230814 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5da3585e-abbf-4993-97d8-c8fe64d44279 CLINVAR:230814 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28e070af-d0f5-4a29-9115-37c1ff8f4b9b CLINVAR:52232 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46faf09a-f66e-48da-a436-f743e010203d CLINVAR:52232 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24721213-f23e-4668-a16c-b5af7d81d6c4 CLINVAR:52234 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1aaa1093-9021-4139-b664-13d74471863f CLINVAR:52234 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54ca77bf-1e72-4ee0-9b50-24ae0fc631d4 CLINVAR:219496 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 165e5dff-9418-4069-8b0a-032eb1ad815e CLINVAR:219496 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87236046-56ae-4fd6-bccc-3398eb633074 CLINVAR:266978 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e731c8c-edd4-4803-baa0-eac67943ea70 CLINVAR:266978 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a35d1c1e-8799-4ebb-8195-5cbb77852d64 CLINVAR:266979 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29da7a2d-84fc-41ce-ac27-1eb361d84477 CLINVAR:266979 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88ebbf3b-b72c-469f-a7e6-7aa791161866 CLINVAR:52235 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4bd7d9e-50cb-4f3a-b781-4f815da286cf CLINVAR:52235 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0452016c-00d7-4cf0-bfe0-53fe4e785da0 CLINVAR:266981 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b698620-9a4c-4970-8f2f-b91b31821bc3 CLINVAR:266981 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d50c69f0-6360-4a9e-a75b-b29818e598be CLINVAR:266980 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 920f866a-d174-48cf-b0b0-9a8892e92b36 CLINVAR:266980 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 732b1624-3c71-4b0e-bce2-a477e45af62d CLINVAR:38077 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08fd6e0e-c40e-45ac-be64-89a535684fbe CLINVAR:38077 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3df487be-2989-4d87-bb6a-6c0d07a5ff2c CLINVAR:52245 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2c55de3-5c51-4f09-81ac-343458b82d92 CLINVAR:52245 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 751d9bf9-b80a-4b05-afd7-426cdd60502b CLINVAR:52246 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cc07f33-6377-42f5-adac-594a83f1bd5e CLINVAR:52246 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45728f57-64b4-4822-b683-e9e98a064210 CLINVAR:188436 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dddc7ef-0301-4193-9482-a6c96fb60586 CLINVAR:188436 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e570d59f-93d2-4b55-9240-7b863ee5331f CLINVAR:548361 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29bee290-3367-4111-a959-25ba9a58272e CLINVAR:548361 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7865749e-1bd4-483d-864a-e19a151e4125 CLINVAR:52250 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 108aefc0-f197-4482-b14f-b1df9f9725f8 CLINVAR:52250 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f1ef583-c38f-4206-b59d-483de1522884 CLINVAR:187200 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33da0dbe-2c14-4821-bb0d-267f1750413a CLINVAR:187200 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a68a1a18-88b7-4295-86a0-2fca5673431a CLINVAR:52251 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57b7639e-f72a-4442-b153-501c49a9685e CLINVAR:52251 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98e9b523-c7c0-41a1-b2e5-cd47dd54690d CLINVAR:266982 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab0d053e-6049-4f70-a0ee-23185cf5cc80 CLINVAR:266982 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 348754f4-4dd1-4129-8770-20ff3d3ab7d2 CLINVAR:52253 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 209eb356-7e26-486b-8720-0b4f05a7a261 CLINVAR:52253 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bfac005f-94fd-4f71-abe8-8b3e30db5aea CLINVAR:266983 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d58ab351-e881-4d5f-84a6-de81fe0aeed2 CLINVAR:266983 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d07e46f3-68ce-4a7c-8051-19b4e3c69a05 CLINVAR:254594 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64f201ba-64aa-4020-930e-5dfac054890a CLINVAR:254594 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e43aefad-3f27-4b58-b79c-0b8fd3c667b0 CLINVAR:52255 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0e70535-3066-43d0-b3fe-ff8006966396 CLINVAR:52255 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 80fe30c8-e30f-45d0-81ea-14edd2b3e84d CLINVAR:52261 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1a6d957-136a-4050-8730-bff0b86463a6 CLINVAR:52261 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c840ac5-3b7f-44e0-8e5d-9f09e56534f5 CLINVAR:254595 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d27ca018-a411-4623-9c5f-4116e1912194 CLINVAR:254595 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b0272ba-22d7-4f13-9425-8e6cf1454974 CLINVAR:52262 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac3a80b8-22d9-43c3-9f10-a18da70dbbb8 CLINVAR:52262 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e631456-f70e-42dc-a4fb-e42cbcea0627 CLINVAR:38082 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f47ba837-511b-4252-b45a-1133c49ee8c2 CLINVAR:38082 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54f55db1-fb08-4850-b2fb-1c1ab727926a CLINVAR:52264 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3814256e-7c8d-48f0-8a0a-8d485994ca96 CLINVAR:52264 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 090c2a06-0e76-4936-a144-ddde8ce56252 CLINVAR:254596 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc9e9697-43c0-4d1f-b9d4-b98c55e5247e CLINVAR:254596 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 949f0ef9-ee5d-412c-82d3-1500c1ed67f2 CLINVAR:266984 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d82db90-ebc3-4926-88fa-bddd2d7ccb11 CLINVAR:266984 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e5303aa-64e1-44df-ba9e-9509f4cfdee0 CLINVAR:52267 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6320880-a918-491c-b730-894bacacd36f CLINVAR:52267 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26b6398a-ce6c-4104-bdce-ee1194aaf057 CLINVAR:185971 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a59c14ac-e4f2-4c98-bdb6-30f73599c71f CLINVAR:185971 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eed931e1-7ea7-4d09-aaaa-194d928f56bc CLINVAR:266985 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 029470b5-4df0-4572-a1dc-ab0be28690c6 CLINVAR:266985 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18d05e8c-b9e8-442f-9a44-3907d84534b4 CLINVAR:52270 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b254f618-4064-4d89-9eb8-7676215fd499 CLINVAR:52270 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5767dbf3-9427-4434-952a-9d2fc723a92a CLINVAR:254597 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 897a2726-c0df-4661-bf91-adfcc626c934 CLINVAR:254597 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4917789-cafc-442a-8f96-7f75dd619814 CLINVAR:441507 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e7d38b4-70f0-4bad-a138-daffa946d041 CLINVAR:441507 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1143345c-8528-4312-a142-7906da1f8f27 CLINVAR:52271 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9da7870-e05d-4dfe-a4ae-19a916c329df CLINVAR:52271 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21e2e55c-6769-4a22-b1e1-4f3c3c8f347a CLINVAR:409498 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1d881a4-047e-4ebb-be8d-475f2e967f2d CLINVAR:409498 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2eaff1ee-683a-4f87-9afb-1fa14442faee CLINVAR:266986 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 921f05f7-4471-4b63-ba7b-63bec524fc2d CLINVAR:266986 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2fbd991-dba5-4646-8e32-7945d3cae430 CLINVAR:38085 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46f1e492-7a0f-46e2-8734-2f43fdf75da8 CLINVAR:38085 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b5f4ece-5203-4094-8af4-695de16601c4 CLINVAR:91471 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07ff3353-c558-430a-8c21-1a0e580c4190 CLINVAR:91471 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a30ac160-e371-4336-84d1-6c91dd50e56c CLINVAR:236897 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43e84831-fb43-4906-a3e0-691a394d5cab CLINVAR:236897 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 485f20d8-3d25-4d80-a05b-d00af9fe4ca2 CLINVAR:266987 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca55e1ba-683e-4356-b496-e08ebe4fa094 CLINVAR:266987 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23e1f660-3bc1-4421-a89a-dd9259240ea7 CLINVAR:52273 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34c1dca1-0125-4781-90f2-994ef5c68e6e CLINVAR:52273 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b5f1006-b03c-4565-8152-916938d4bd3b CLINVAR:52275 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 454a0082-4bcd-4cb3-8c63-0e415eda77e1 CLINVAR:52275 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 70ee90fd-65b6-46d5-af28-0d408f4b6449 CLINVAR:418086 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f6a2efd-ac68-421c-b4cd-8dd6a0004c3c CLINVAR:418086 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4981f85-369e-4d35-ab85-dc08a2634993 CLINVAR:52276 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5ee6c82-809f-450a-8f94-7856b2b07719 CLINVAR:52276 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5d62ca8-522f-4511-80e3-22ba0e1eb24b CLINVAR:52278 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5afe244-9411-4392-a3bb-a0fead2d9aad CLINVAR:52278 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dca7fd6e-029b-48ea-8414-b2986df3f593 CLINVAR:52279 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc162cd8-65a1-45f6-9e42-c239135f8e8f CLINVAR:52279 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f89e2e8b-9775-4a3f-830b-f09fe0ac57d5 CLINVAR:52281 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b9cc0fc-1921-45f9-8aa5-ce6b2541e5b8 CLINVAR:52281 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fed34d2-29e4-4598-9ef9-83dcfd67650d CLINVAR:254598 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ddae90c-24c3-4696-9da2-b58b1b7a7204 CLINVAR:254598 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09ab7339-1ad5-4519-b655-5f26a889fbd2 CLINVAR:52282 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 420ace6b-ba46-4f9f-b2aa-22940c4eca28 CLINVAR:52282 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a2f8cd0-6aad-438a-91d2-6616aa901841 CLINVAR:38087 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 748428c9-7f54-4769-b6a7-f79de2366763 CLINVAR:38087 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 49baf3c8-b8f9-4f50-a34d-ee930cd2f3c3 CLINVAR:266989 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce2b07cc-a9f1-4ce9-bb6f-aa9e8e3064de CLINVAR:266989 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 826a578a-64c8-4e2f-a935-379b7244a1da CLINVAR:266990 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a5468c0-b50d-4104-8693-315d1e250238 CLINVAR:266990 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d9e374e-2fd9-4b31-96c3-0d1dd310d651 CLINVAR:52287 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e8f54a1-f3e7-48f4-b9a1-1a0dc37062f0 CLINVAR:52287 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7fb6ad0-53ab-48cb-aa26-5f403b3c8eea CLINVAR:266993 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3a1fd47-7f2f-4ce6-8bb7-6db47624a0c6 CLINVAR:266993 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b80e4e6-cbe1-4c06-99bf-30f4c554334d CLINVAR:52289 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc971c93-4687-4089-be16-c5546eae5850 CLINVAR:52289 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d04a20d-ffac-4ca9-a741-93c46a144c95 CLINVAR:232446 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d4815f4-dc95-421b-906b-978e465e6d04 CLINVAR:232446 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 19a8d6a8-3132-4920-aacb-b50e7dea373c CLINVAR:266992 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4628832a-d97f-40ff-a4ac-936da7b55dae CLINVAR:266992 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16a3062b-fb85-458c-8325-71eb7bd7f613 CLINVAR:52288 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd9ed165-63b4-4252-9055-c979fce5bdf9 CLINVAR:52288 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0ac3a88-30a9-40c0-8deb-b70f8ea08f58 CLINVAR:265550 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 313cfb42-772e-456f-b944-d505d012e74c CLINVAR:265550 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 098abd2f-e919-43ea-9a5a-bfde0b9b825a CLINVAR:231762 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b11e4007-748e-4bec-80f2-09cbec43bc77 CLINVAR:231762 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b2c449d-fc11-4a4a-96e9-a7e272b9b262 CLINVAR:266994 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f5ad689-1612-4ae3-8af0-44e254ef7e0f CLINVAR:266994 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33ce7556-1a10-473f-abb3-c2b85fa860db CLINVAR:52292 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3fdd01c-1610-4607-848f-fb430205a843 CLINVAR:52292 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9aa444e7-1244-4523-8dcb-649820228eac CLINVAR:52293 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c589655d-fce6-471d-b236-9e275ce4cebc CLINVAR:52293 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a98fd21-f346-4da2-b2e3-1ff17b60ae59 CLINVAR:485430 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cc120a8-b078-4744-8dc4-f1f65e5ae551 CLINVAR:485430 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8dbbe77d-d286-4714-809e-d1b66f5409b7 CLINVAR:431332 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 594c095c-4eb3-411e-9190-f278c7cad92f CLINVAR:431332 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b830a556-3b0b-476a-b064-5711bb79fbc5 CLINVAR:548430 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1682b8f7-65ca-465e-9a88-df39183fd9b4 CLINVAR:548430 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 535619e7-e355-42be-94c8-bff82b5d737a CLINVAR:52295 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39e37059-a655-41e1-9b71-a587e4b38346 CLINVAR:52295 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe97a8af-6a64-4e79-b8ec-985bc14f1c9c CLINVAR:126132 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f20b7346-dd55-402f-8c17-a35b64cbed80 CLINVAR:126132 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88ba1ab9-4410-4e57-8477-0a632f1f7351 CLINVAR:52296 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fb8b795-2794-4262-9d2b-78ae49054f28 CLINVAR:52296 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c6ee9e6-459e-42e9-a9e0-d9cd695758fe CLINVAR:254599 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9cb99e0-e901-4938-a2ef-d7d252bc8d34 CLINVAR:254599 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a74f129-2589-45f4-b0fa-db282cc8fed7 CLINVAR:52298 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1b305cd-e976-4f7e-a866-79f55f8a6f29 CLINVAR:52298 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4243e10-6712-437a-ac41-5b57ec85ed96 CLINVAR:52300 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe068b5d-1490-460f-8569-a33f36a80efd CLINVAR:52300 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4a8ff51-d39e-4f07-a663-87bfe360fb16 CLINVAR:38089 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03c24d16-4dc5-4b8e-b43e-8ddd819265ac CLINVAR:38089 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76b0e05b-9e80-4130-9e4e-f7b3d45b6fcd CLINVAR:52301 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 416d131c-c7aa-44bc-9521-5ef8cf0cd54e CLINVAR:52301 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9641d2f3-7f1e-4ed2-9ac3-dca26ce95422 CLINVAR:183185 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dde735f-43f3-4507-b74b-732fb4bd1bf3 CLINVAR:183185 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b5562bc-f308-498b-b324-6de212a61e96 CLINVAR:266996 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8807fbf9-31ee-4843-bdbe-73307272b0b0 CLINVAR:266996 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 164c0509-b655-4d1c-aae2-7e0e48ebec44 CLINVAR:126134 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9de6831b-f433-475d-938a-7083edf456b3 CLINVAR:126134 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fdd2f98a-39f2-45b3-b3cf-4ae77ef3d0ac CLINVAR:266997 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50ff313e-09ef-49fa-8eb6-a5a2521e64df CLINVAR:266997 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf3e9748-c0b2-47fe-8538-6e7b92fc4f1d CLINVAR:254600 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b91ff86-ef32-4514-b4b1-36f8202af2aa CLINVAR:254600 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b43bdde-a5bc-4a22-9b08-08116b190862 CLINVAR:185769 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7512056-ce21-4859-a423-dd614a2d632c CLINVAR:185769 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78a66b60-fcc8-430a-b652-bb1f2f7846fa CLINVAR:52305 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab0804b0-4c1b-4554-8add-4e01a5460f1b CLINVAR:52305 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9436972-bab2-4e8c-8ce1-f1d1ff94c774 CLINVAR:548398 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05fd4d2e-4139-4fd1-9eb6-e76f647b9b14 CLINVAR:548398 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78bcfe13-8a68-4594-9807-01d2dea3eeed CLINVAR:267001 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f833381a-cfb1-46b2-a308-cf716f4f81b9 CLINVAR:267001 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 834e6c8b-afb0-4473-9962-c8a5367e6e9c CLINVAR:52310 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97833fe2-11fc-4823-8c0a-bebca02e100b CLINVAR:52310 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b70df5aa-cd94-4d17-9681-7123ac03db7c CLINVAR:431333 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f80cbc45-9aec-4d05-8ce1-6bf2f9baf917 CLINVAR:431333 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 619bb54a-c798-4114-a0fd-e0c8cca0c051 CLINVAR:188437 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2178ac7c-6fcb-42ce-a875-3e6f79c37950 CLINVAR:188437 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6617a34f-70be-41db-82a8-48d41ea9e01e CLINVAR:233672 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 681c73a8-57d6-438c-996d-e768bbebfc89 CLINVAR:233672 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82dad5f9-fd09-4fad-80c5-a2318224846d CLINVAR:38090 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2128358c-4f9f-4b6e-abec-d05728bd483e CLINVAR:38090 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b774f5bf-07ee-4663-a58c-72d9db371ee6 CLINVAR:254601 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4112e434-20fc-484e-aa57-0b0573b41ae6 CLINVAR:254601 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67ab7edd-0300-4200-aba2-9898e18fad68 CLINVAR:267002 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddda05d4-6a17-4d1f-9c07-e0359b076d00 CLINVAR:267002 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9dab9376-90df-42e0-8d1c-2dc6cab54978 CLINVAR:52312 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e966da2f-2d7a-4d64-926a-130de9cccc0a CLINVAR:52312 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1132bbea-8501-4fed-af7f-4aa8c49f98e1 CLINVAR:267004 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dac01d3d-e2db-4792-a46b-e7729e2d3a4e CLINVAR:267004 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c561629-3d53-41b6-9929-fbc199857183 CLINVAR:233359 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4477c60f-2af1-47b7-92bb-51b544c3b508 CLINVAR:233359 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b798f837-84aa-46dc-88f8-9336ab1161e2 CLINVAR:267005 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a0428a2-82fb-4467-9cc6-407bed71295f CLINVAR:267005 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2bbbe2c-2972-40d0-bac1-9ff2596f1f7d CLINVAR:52315 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 102d6766-d2ce-457a-b80d-f3e092a39378 CLINVAR:52315 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3dc41be5-67ef-40da-83e4-974fa04f12c5 CLINVAR:52314 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b72fc6da-a7af-48c0-8e37-e2cca4f856b5 CLINVAR:52314 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28375364-bf38-4286-85c4-6a9a9dc04d2b CLINVAR:38091 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 130f5f73-7b74-44b4-bbec-54addc9cfdaa CLINVAR:38091 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8084e5b9-c5ce-45a0-bcd7-70aeaf0a97bd CLINVAR:548354 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d137c8e5-e85a-43e5-a19d-c062651a9f19 CLINVAR:548354 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bfa83188-123f-481e-b222-273721fcf828 CLINVAR:126135 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9047b42f-14f6-4e84-ac8a-73e1c64bd160 CLINVAR:126135 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ab46044-7562-45df-a607-cc8a77703640 CLINVAR:254602 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77d4c202-a89b-4c4f-ab51-76786c009c9f CLINVAR:254602 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2f1152a-78f1-4b13-aaf0-282ae1a5639b CLINVAR:267006 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c01d11ef-5785-4983-86cb-c0b2b611ae58 CLINVAR:267006 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2205e1bb-fd14-42fe-8203-696daa105b7f CLINVAR:52320 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afc1c5e7-e6e7-4379-961a-bae0696928c3 CLINVAR:52320 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eeb5c09a-cce9-422a-ba41-a498aae496dc CLINVAR:52319 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6af6ab52-bf0b-474d-9d3c-72d2b6f9dfd0 CLINVAR:52319 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb958dbf-72ab-481f-8249-e09257577eb5 CLINVAR:38093 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45d93826-32a7-470f-8c54-9ab7b21fb32b CLINVAR:38093 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b647b027-ebfe-40f4-aadd-0fd84cf39561 CLINVAR:254603 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55029d67-3726-403e-87e6-b3169e319c48 CLINVAR:254603 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90da264f-5f16-407b-b3a6-6c17381c82b1 CLINVAR:38094 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be14830f-a66e-4793-813a-2d0c4e763486 CLINVAR:38094 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1aaf4678-ef2f-4285-89c5-7474bd98212e CLINVAR:38095 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a2a71cf-93d8-414c-b732-11aa18c4557a CLINVAR:38095 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e3f3caf-c529-47bc-8ec3-2fa44fc1ec6c CLINVAR:267009 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08461dd6-2050-41e0-a045-73c29f783f63 CLINVAR:267009 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5fb50a7-c9e3-4b06-9503-364611ec2738 CLINVAR:254604 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2c636d0-f91a-4291-a857-bde2ef94425a CLINVAR:254604 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 265e289f-81b1-4743-9775-6af24c2d3c32 CLINVAR:267010 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fdb2542-ac29-48aa-85d7-823ca7f74133 CLINVAR:267010 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14a2530b-351b-4c63-8e35-9d4f3c8ccedb CLINVAR:52333 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ec47e72-b615-4326-869d-0aa2fb208622 CLINVAR:52333 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c1bdf0d-fdc0-4ad6-ac58-b95254dc5e61 CLINVAR:409586 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ed59736-5e3f-4116-ae88-61086d33c349 CLINVAR:409586 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1266f7eb-76ce-475e-8175-f7b779b1bd5a CLINVAR:422598 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2e0522a-d767-4c4a-b8cc-9b54c3adbd97 CLINVAR:422598 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f89d5e4e-e31e-463e-8bf5-899212e4692d CLINVAR:254605 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ea8c27c-bb32-4e37-888d-a43f550188a8 CLINVAR:254605 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fb27faa-07bb-4f99-8013-9c3101a496fd CLINVAR:548429 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfb31f6c-8daa-423c-ad5d-143e4a327707 CLINVAR:548429 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12c7fdee-46d2-4304-82cb-66c1fa2e206b CLINVAR:52338 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbf712df-46d6-4746-8181-7f7156b94465 CLINVAR:52338 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b5962a6-fc01-4ad0-97b2-33b7066b0408 CLINVAR:126137 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d30e436f-2879-4822-8645-215adbbd4441 CLINVAR:126137 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d755a0c-4bce-4913-aae0-cb78a181a0ac CLINVAR:267012 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8807523b-c01a-46bd-9b37-a45ec4962c10 CLINVAR:267012 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72ef2698-9a61-4471-b8dd-8054a59d784b CLINVAR:254606 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffd5fa47-9e7b-48c2-ab99-8b70635552be CLINVAR:254606 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 167f471d-cf60-4239-9bda-901389e0a803 CLINVAR:52339 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41ff2b42-c957-4523-b985-d6723429920e CLINVAR:52339 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ffed8cb-f442-472b-bbf8-c39a9ee3548f CLINVAR:52340 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33038363-aca5-4214-a49e-499edb162bd4 CLINVAR:52340 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dad14455-0ff8-495a-9508-76285b3e882d CLINVAR:38099 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff2ea93f-b5b6-4cf1-b07c-d32186fa3f26 CLINVAR:38099 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91e2bcd6-b590-40fc-9450-7f0b32efa7cc CLINVAR:267013 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7308d31-3fe0-4afe-9f25-8b91a472e961 CLINVAR:267013 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20b99fd1-669d-4adb-9714-68a6f2e3c0bb CLINVAR:254607 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee792c6e-c76f-4278-b253-9e0abc6d429e CLINVAR:254607 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eea51c12-36b3-4c06-8df7-06a1d2a0d68f CLINVAR:548406 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 236d2512-b185-4f40-abf6-de7f30eac518 CLINVAR:548406 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c300776-6e51-4d4f-8bd3-20ed8f604f5f CLINVAR:254608 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6466fea4-b8f9-418c-ace1-9323c3f3ddba CLINVAR:254608 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d302dda5-b5ae-4eb9-b4f3-d3b281bb2db9 CLINVAR:267014 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82877bd0-5539-4dc7-ac18-10a3033b2798 CLINVAR:267014 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3301744f-c001-4e7b-a287-d70c37b50e64 CLINVAR:267015 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cb0caf4-edba-42f6-a9ce-e5b204db5d44 CLINVAR:267015 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f548e21a-c8d4-44f0-8e96-696488425b52 CLINVAR:267016 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2287ff67-4863-4f90-ab21-b3b36ad9d151 CLINVAR:267016 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7892fdb3-56bd-4890-926b-c38db03d584e CLINVAR:252447 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ef1504d-187c-41b0-bad1-db12d05c4318 CLINVAR:252447 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d40deb57-98c1-4203-a657-71fa5105c1d0 CLINVAR:267017 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc07c3a0-3dc6-4053-b5d4-306cda0e3602 CLINVAR:267017 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d204c7e-1803-4f2f-b8f1-cc8fd29e3cc5 CLINVAR:230556 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c3727c8-348c-41e4-92c9-2f8911b9c527 CLINVAR:230556 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48e71089-c602-44ff-9c27-bbb159b33d1c CLINVAR:267018 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd9ced73-aed7-4125-ac65-fbaac29788d1 CLINVAR:267018 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eca43ab3-d715-41cf-8921-e1354f8ed266 CLINVAR:91481 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3cffb5e-e9b3-4faf-9c73-d0cb351949e6 CLINVAR:91481 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de379385-2fcf-412f-80dc-b65fb4859bcd CLINVAR:548359 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08fcea03-1cd6-4e4c-861a-bb2fca3d4abf CLINVAR:548359 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 870a6033-5705-4d75-9d24-798b8e1268fd CLINVAR:267019 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5595659f-109a-44ff-aedb-beddc69ccf36 CLINVAR:267019 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f048c68-1e54-4d32-ba3d-c8b671780506 CLINVAR:52350 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc509790-55d5-424d-87f0-f6a105dd9eda CLINVAR:52350 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdfdbaf0-d434-4f99-8acd-c9eaf36ddfb6 CLINVAR:38101 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cba3915-cd6d-4f5c-a4a0-187b5acef7ef CLINVAR:38101 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38504737-1d53-4b0e-bf9d-64c958c7cc9c CLINVAR:52351 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b32bc831-118f-4001-8cb7-5a49d879c2ee CLINVAR:52351 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07ea001b-8a6f-4d52-b07f-b2658239c83d CLINVAR:52352 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1e81911-517c-4cc7-ba15-03c3b4596ef4 CLINVAR:52352 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2fc27aaf-f257-4f69-b63a-827f65e3504d CLINVAR:254609 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b091e828-68da-4bcc-a4fb-e2b55633f4ac CLINVAR:254609 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e6176fe-67d9-4cdd-85f1-04500e17b35e CLINVAR:91482 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffa149c9-d555-4671-9ccc-fb12c8ba6997 CLINVAR:91482 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 275e31ff-a316-4e19-a143-68929a5dde76 CLINVAR:267020 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d715accc-6fcc-40f0-a487-cb2995261143 CLINVAR:267020 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1976ca5-f133-4c28-afa3-1e4c3b42614d CLINVAR:52353 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 367cdf33-ec6b-41ce-adf9-434eeb9fb9e5 CLINVAR:52353 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f5c5cab-ce5e-4f53-8ed6-56230c9f6708 CLINVAR:267021 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e4abd2d-0a79-4afb-9d54-bda72a9a5aa7 CLINVAR:267021 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0d3f9ab-2266-4274-808e-979bbbcabffb CLINVAR:38105 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33337fa9-dab0-4929-b695-848e23df3221 CLINVAR:38105 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8804a96-0575-4d12-94ad-85b9952bede8 CLINVAR:267022 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c744313-c40c-4f3d-99c1-54c4db1bd25f CLINVAR:267022 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07386a48-a9bf-421b-aa57-339c139dc1ef CLINVAR:225751 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cb1bf38-aa21-4141-98d1-362a34673d11 CLINVAR:225751 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7cf2edc-a9f3-420e-83aa-fb20bf0e0354 CLINVAR:433816 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a35bd651-b70a-4859-a772-9966edbaabaa CLINVAR:433816 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f67407ed-b473-4582-80ff-099fa0cc74d3 CLINVAR:182320 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f8ab932-dc60-4564-bc22-ea1ee82c8fae CLINVAR:182320 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55cd95a1-42d8-43ba-99c1-c036fbaa9090 CLINVAR:52359 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55f74e68-5a2b-4295-812d-adf66331d24c CLINVAR:52359 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb33bfcd-262d-446a-982f-d147f7c0f557 CLINVAR:548334 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb1dc928-01dc-4dc7-916c-b2a5258f0afe CLINVAR:548334 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d25bdcd3-b918-46f6-a633-217f853e9d1b CLINVAR:126141 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbe0dfbc-c67e-43d9-ac87-6a1afe6c2699 CLINVAR:126141 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9cb0c73e-29db-461b-adf7-2c9ff89e54ff CLINVAR:126140 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d706e98-8cf8-4561-9ff7-5c4a28008cc1 CLINVAR:126140 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04714e8f-f9a3-4490-b03b-44abdf5742ea CLINVAR:230259 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6fe783a-d2b3-46ff-840c-e0d105394ce3 CLINVAR:230259 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5115e6d2-b4df-46da-b741-d484fbdb1062 CLINVAR:52361 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f139e6cc-8a7a-45c8-979b-b78fc23a3218 CLINVAR:52361 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bfc84b55-e759-4319-b28b-9dd6cfd104ee CLINVAR:267024 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39c80050-5694-437f-bff0-2f8f949f8c06 CLINVAR:267024 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8df687aa-7e46-4591-8377-9d56669f8695 CLINVAR:52362 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7203a61f-15b2-4732-afa4-ce93ff02d15c CLINVAR:52362 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a748141-8313-4f23-8116-a3571e6e9500 CLINVAR:52364 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc19233d-662c-47c8-a53d-4c503495e1f5 CLINVAR:52364 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6ec6d99-5985-444c-bef8-5dc5d72c4e30 CLINVAR:267684 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 768eab9c-974a-4aa7-ac14-7567122e80d5 CLINVAR:267684 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86fded13-8f93-492a-89c4-7f4f306ac31b CLINVAR:38110 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3dd76273-630c-4a8b-b72e-3d4962d9538f CLINVAR:38110 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a757697-c1d7-4ef6-8402-acad8f48ea7b CLINVAR:267025 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8749807a-ab98-4745-9911-c3a6bdf08c0a CLINVAR:267025 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee467ade-f5a5-42f9-8d28-0c957d5b86a4 CLINVAR:126153 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc328aa9-7195-4baa-b9a8-7f5a6023f1fb CLINVAR:126153 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b65a235f-dbc4-4412-a31a-1204a81c8b57 CLINVAR:420500 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c75a4a2-502a-486f-a161-278960eaff9c CLINVAR:420500 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c354e4a-b1d2-4d72-8b7e-e701a18b76e7 CLINVAR:267026 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d93af27-95e3-4bc0-8ada-2b248ac78532 CLINVAR:267026 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 985a82a2-1e37-4efd-9e45-60396413c66a CLINVAR:52375 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4263b195-0f21-436a-82c5-f90eba5545d2 CLINVAR:52375 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bada773b-c76a-427f-9a0f-52ff4915dd73 CLINVAR:267027 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be9eeebb-6bb5-4c8f-a5ee-d445f6cc446d CLINVAR:267027 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e1ce19f-d27e-4068-ad27-045ab3174518 CLINVAR:267028 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68358cdd-ac9a-464e-b4c7-cca5b5ffe190 CLINVAR:267028 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58e911ed-0487-4752-8188-a7e6c96277a4 CLINVAR:52377 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e58ad50e-44f3-427a-a88d-de0e1e9eb730 CLINVAR:52377 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 679a4593-9192-426e-8f60-038458442d57 CLINVAR:252846 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d587bfd8-b280-423b-9903-03dda3a99e7e CLINVAR:252846 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2904af4d-dccb-40de-a44a-e7c00a1c7cb9 CLINVAR:52378 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27b5943e-d3b8-429c-b1cc-caf0c5ce316d CLINVAR:52378 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81def944-7794-476b-a42f-b3c67609295b CLINVAR:236283 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3eb44ac4-bcbb-43f2-b81e-98f4c56ee603 CLINVAR:236283 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0cf2849-70ee-4a30-8723-fa415e37e5a4 CLINVAR:267030 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar baa36eff-01f8-4c9a-9798-e3c7850e39f1 CLINVAR:267030 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b460b64-42f3-49df-a58b-6d0839964625 CLINVAR:267031 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52f3b271-368f-4e8f-840b-8fecdc0f3a52 CLINVAR:267031 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01e13098-70b1-4e71-b8c0-93186d946425 CLINVAR:254610 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2204d74-43c3-4a46-a3f0-465ce2ed735d CLINVAR:254610 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b84318b-dbb1-4b8b-bf63-dd5a54aade70 CLINVAR:52379 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf75364d-c3e9-4a63-a2eb-41ffe48836b0 CLINVAR:52379 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel beb8e0c4-9814-4833-bb1f-b8d78791ca59 CLINVAR:38113 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20191c96-d721-4578-b2de-cf05387d8a53 CLINVAR:38113 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e6dabdd-01cf-47e4-be08-865bfb09578b CLINVAR:236908 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1061e720-14f6-437a-8f61-143ed47af8ce CLINVAR:236908 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e220315e-1692-4bd7-b5d4-f6b66647e2f3 CLINVAR:548353 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb4e4fef-66ec-4ff5-9a1d-8b5dea29f652 CLINVAR:548353 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad173a11-353f-41fd-a716-c6717ed1f3d5 CLINVAR:52385 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f103a75-60f0-477b-8f89-42e73154536f CLINVAR:52385 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb924c15-affa-4209-9f5f-64e347638ab8 CLINVAR:52384 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 794b87b6-34c9-4e31-b981-28a55e4397f3 CLINVAR:52384 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b6d1a4f-31bb-4844-83ea-987b7993539f CLINVAR:52381 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c21fff8-cf14-4c58-a9f2-5273f296c95d CLINVAR:52381 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77ce62c3-68d9-428a-84be-845e7d5fa7c0 CLINVAR:52387 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2abc1d47-669c-4ecc-8ad7-df16702d5f29 CLINVAR:52387 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdd588e6-1c41-4e3d-8936-51ce4e504d28 CLINVAR:52386 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ceb26315-e02a-4251-a421-7bc7070a4d7d CLINVAR:52386 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f8ba6e58-5670-4c7f-af60-9ff7d543ca54 CLINVAR:254611 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 366960b7-47f8-4dda-971c-70f86ca2ed1a CLINVAR:254611 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bac9531f-cd22-49ad-8e36-062199f0e91b CLINVAR:142784 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea6aa275-e7da-4aa9-8936-4de74da6ad3b CLINVAR:142784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 08f95f31-3913-4410-b329-b3a9aaa2dfff CLINVAR:52388 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 718aa93a-aa2d-46e4-ab63-6434105a79e9 CLINVAR:52388 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 870257f4-1129-400e-a98e-9c17a26f57ec CLINVAR:52390 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f898a934-716c-42f2-b4a2-7c5d3488f9d8 CLINVAR:52390 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5df47c4-7778-4c67-9c76-64788b9d84e1 CLINVAR:254612 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1c550f8-45f7-4129-9519-d4f884064555 CLINVAR:254612 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88e329e8-c9b1-4f61-8826-6219d0832281 CLINVAR:52391 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab88d294-293b-4afb-9823-b911e30008c7 CLINVAR:52391 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d27f9e06-93e5-471d-a85a-7b52646f5cb0 CLINVAR:267032 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3897fd4-54be-48b2-b632-d043272e0b27 CLINVAR:267032 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a137e750-7858-4471-b97b-bdad3d431175 CLINVAR:187368 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b43e9d1-a3df-4d5c-9e78-aa39264f0953 CLINVAR:187368 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1f6eaa2-3f64-42ac-9f24-2bd350922cf6 CLINVAR:126155 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33c6a620-69a0-4142-9c04-af261b6c5ca0 CLINVAR:126155 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97c3c98b-d419-49a1-a39d-ffc0359693ad CLINVAR:52394 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29469e42-b40e-45c9-a55e-b134b28c48db CLINVAR:52394 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2de8db40-c7e4-4be3-9dda-45b5380ad5e2 CLINVAR:409496 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd859b4e-5cd8-4124-91c4-2b3962da6759 CLINVAR:409496 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa5dd71f-8a2b-4532-b930-4870e4110d54 CLINVAR:548396 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e86f56e-f692-4abb-a403-882a34310e9e CLINVAR:548396 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51062b08-44c4-4edb-894b-f5e8040093cb CLINVAR:52396 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e68f3bb5-16af-413e-9ba1-6cfdc603a771 CLINVAR:52396 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c066fff3-19b1-4c39-a8af-dd2990ea4e6b CLINVAR:267033 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 621e3c29-8c8c-403f-8603-32b69a8caaa7 CLINVAR:267033 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bce14397-e11c-409b-9907-946984db0b3f CLINVAR:52399 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a899e737-ea55-457e-8a91-ee181b7e9465 CLINVAR:52399 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 300c333c-d8cc-4895-b7c1-956aaf2a6641 CLINVAR:52400 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f4fc0fc-2991-4054-a289-593b13efa972 CLINVAR:52400 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 95e8c16d-19f3-42a1-9061-e02f63d3d3b1 CLINVAR:52401 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbf82ff1-6769-43cd-a502-1012045ba23c CLINVAR:52401 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8e04131-af71-4db3-90a2-ee75c4de480f CLINVAR:421028 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bae733c-4010-463f-9b53-081d79c93227 CLINVAR:421028 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c86cd27-ee22-4bf1-91bf-5414795b1a8a CLINVAR:38116 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3b14434-ff94-4c3f-859a-ba939749042a CLINVAR:38116 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 30a8f68a-791f-4468-9d45-567c7bd51410 CLINVAR:267034 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ccf3574-09b2-4956-9ff1-037f64e1a513 CLINVAR:267034 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de33e389-64ef-48cc-b27f-cfea113a9f93 CLINVAR:52404 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b22162b1-c3ba-42a6-8f02-8762eadb68e8 CLINVAR:52404 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9040a6ef-ac66-45b5-ad37-df7b3160b6e7 CLINVAR:52405 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2386b476-801a-4c1f-ac74-d9b23125eae0 CLINVAR:52405 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44596fb6-c6d2-43ae-acdf-edf02236e0eb CLINVAR:233493 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14981957-a316-4cc6-a829-1d760500568d CLINVAR:233493 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2012d919-379e-42e8-a506-d90d54781bad CLINVAR:141811 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3be3c78-ce4f-47d6-8d1d-96c164f16aa6 CLINVAR:141811 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfe4c163-b3f9-4a9d-ba1d-bb6a455c9dfb CLINVAR:267035 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 815e6a06-409c-45fe-9716-2e1d1861c0c9 CLINVAR:267035 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a15f4061-7733-411c-becb-6810bfb1df80 CLINVAR:421439 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26efe62e-ac22-4b0c-a46f-712a81323d5b CLINVAR:421439 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3201ab46-0c34-41fb-88db-cc19f0c1889a CLINVAR:126157 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e14c17dd-f732-4516-b747-4f1b894dc21c CLINVAR:126157 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3702c14f-40b4-4680-8aa6-73b961753053 CLINVAR:431335 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7ce6100-3823-4356-a05c-1ffa59d7610b CLINVAR:431335 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d321e7a-d7c8-4d8a-9489-62a300599e5c CLINVAR:267036 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8cf72a33-3ae6-4808-9514-d942a839aa11 CLINVAR:267036 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7db74e21-29dc-4173-b704-e723554f0c4a CLINVAR:483130 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5315285-c4a6-459c-9394-c812d670687d CLINVAR:483130 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1fb4779a-e9d3-4a2b-b5e3-e6104ffe52de CLINVAR:52411 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 606ec8fc-3c15-4981-a92d-94ff4013109a CLINVAR:52411 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 929faaa0-d908-458a-b71c-9e0fa142cf96 CLINVAR:812555 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0d0a15a-7c04-4ddd-b583-f02b9166d5a1 CLINVAR:812555 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21a9ac10-5925-42b3-9460-3cf4e21208dc CLINVAR:52418 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56b9e780-f001-4582-ba69-9c88e038ff81 CLINVAR:52418 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78b734c0-8f26-4809-9796-3cbdb0df98cd CLINVAR:52421 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04e66711-9247-4357-8ce8-be8d8605e6e2 CLINVAR:52421 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83bf96ab-3ad0-4a83-9c76-648b4ceec409 CLINVAR:267037 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4d5f2bb-5ad7-4c27-b6f7-3cfe3df746dc CLINVAR:267037 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17c4f2de-76c9-453f-9dcf-4613d7b25c27 CLINVAR:96859 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3283b815-3e8c-46c3-887a-526a0147f676 CLINVAR:96859 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f110633b-8489-4617-94b0-6de72d464b5e CLINVAR:126160 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31607b7b-e49e-4729-9223-0e4a62fe627d CLINVAR:126160 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53ebb6ed-9418-47aa-a8ba-b5612595f2be CLINVAR:409578 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c4a9c67-40d2-4f3c-aa6a-38b3642dcf71 CLINVAR:409578 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a229c18-242f-441f-a971-90ed87c2d448 CLINVAR:409596 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4e79a9d-ecb5-4fcb-ba8d-7a38cff18dfd CLINVAR:409596 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eddb2d9c-c69f-431d-afa8-39d33d348104 CLINVAR:232537 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a81e403-2a05-48d3-92fb-1b90b1ef1ab8 CLINVAR:232537 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d9459f8d-6417-4893-ad25-4d61d5817391 CLINVAR:440432 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f624f72-645f-4cfe-9dfb-0ddd62978872 CLINVAR:440432 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ede25000-f565-4079-a7d6-76f6717445f5 CLINVAR:267226 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5805845f-89a2-446c-b18d-99cdc65b5408 CLINVAR:267226 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5529da0a-72e0-4d76-ac4a-6442371f585a CLINVAR:52425 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf819c00-907c-46b3-b677-b8678a1859d3 CLINVAR:52425 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa32440a-3f2f-4d81-9eac-3d2172abc1ad CLINVAR:52426 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffe4183a-44f1-4f8a-bbb8-65a9b312609a CLINVAR:52426 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1f06cf9-7e6f-490d-afda-8e95430c87cf CLINVAR:141334 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47592106-9fbb-4f0a-88a1-a41160a6dd71 CLINVAR:141334 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 690776d2-fd9a-42f8-b187-4b39ccbf25fb CLINVAR:254613 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1d212b4-0ccb-4b2e-8677-c609bc69abdd CLINVAR:254613 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce0f4410-68d5-4b08-b7bd-8cc327af133d CLINVAR:52427 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7907d98a-44bf-40ce-9cb9-6234db815a9d CLINVAR:52427 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57ce6384-db1c-4ab5-82ae-a37de1be05fd CLINVAR:38122 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb56155d-e589-404f-b155-d0dc923afd54 CLINVAR:38122 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d11505b3-072e-4ca4-b835-a6120adde5ca CLINVAR:438744 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26bd49d9-e98a-4f04-8c02-2d7266b9e552 CLINVAR:438744 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 096e85af-1b28-485a-932c-d79d89be82df CLINVAR:267038 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4490a87-50e2-4bd3-b771-0a5d904ea848 CLINVAR:267038 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38744223-1834-4f17-822b-7de11052aa55 CLINVAR:52428 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62c5ff24-8733-4dfe-bf39-7c191f74a827 CLINVAR:52428 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db94817d-a038-4b81-a205-2d9bf9ca5076 CLINVAR:267039 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b1ccba6-6425-4cca-b5ce-53a1d9dc5d7c CLINVAR:267039 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1d673d2-ed7a-469f-a459-2a9b4a3736c5 CLINVAR:52429 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee3c408d-cb56-469f-9126-9d1108f8ec80 CLINVAR:52429 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2cd143c-7f55-4dfc-b1ea-f7dd6c65d4aa CLINVAR:216031 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d954a95-dfa9-45b8-b1bc-a035e86746a7 CLINVAR:216031 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6833c72f-6dcf-478c-9ada-3f2ed2e43fac CLINVAR:419217 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e87c7737-d47e-467a-948a-d296613e298d CLINVAR:419217 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 400d275e-fdab-4420-986d-54b2faa4087c CLINVAR:441339 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39418e17-a68f-4309-ac9b-7c2c7a9c8f82 CLINVAR:441339 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a14f7eae-2ca9-4fab-8e29-54510d8689d8 CLINVAR:141118 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar feb47963-1c9e-4b0f-a96e-8511d7856f36 CLINVAR:141118 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28efd994-4c22-4934-98f0-6ec1641079ab CLINVAR:267040 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39984cf6-259e-4f97-9d08-35e8a86f464f CLINVAR:267040 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d323b03d-9aae-4722-bb46-3ea72641a050 CLINVAR:38124 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9367c31d-d266-4bf1-ac51-7414c640887b CLINVAR:38124 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac1305ba-09b1-4e14-8a78-183ea2233e23 CLINVAR:38125 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2de90766-7b3f-443f-bc72-7229140428c1 CLINVAR:38125 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 254b00b3-6d3c-4854-a027-f439a1eec5ed CLINVAR:52430 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e21e8055-8fd4-4baf-80e8-fcb4d1d15b6d CLINVAR:52430 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d2d8a05-1513-4474-93c4-61e1659f64d3 CLINVAR:52431 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6be8a4d-83bc-46c3-a61d-53d4de6e9f70 CLINVAR:52431 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31872a27-a339-4d56-a8a8-ae59ae0f68f9 CLINVAR:52432 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0c7dd10-bc92-441d-a944-dc1fa1d298a7 CLINVAR:52432 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83882140-ba35-4c10-b68b-c94af5a72741 CLINVAR:267041 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ed64077-7118-44b6-b8e4-0f854ffd7d6c CLINVAR:267041 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c34a69d6-f0de-4155-a518-899514594c66 CLINVAR:91497 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e78e129-5032-40ee-98f5-06b616a0a971 CLINVAR:91497 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 379e2dd4-2417-4a72-9b0f-7c7f8cea33e9 CLINVAR:52433 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5511ff85-1a24-40ee-b152-c7a0d4d3b766 CLINVAR:52433 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bbb77ea3-15f6-4cf2-804b-d65335d517a4 CLINVAR:38126 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9914b166-bab4-4afd-acae-03a554da3f2e CLINVAR:38126 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21efc316-ee59-40d0-8ab8-18769000727d CLINVAR:548370 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f577ea8-0079-4b6c-8936-9f6268bf1d1b CLINVAR:548370 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0c03263-db82-4b01-83ce-2cdf630d1455 CLINVAR:267042 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d93e4c2f-a9a7-46d9-a641-6ea841735db2 CLINVAR:267042 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d93aaf3-81d6-4f06-b030-3c3e203e3220 CLINVAR:252448 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a2c3b94-13bd-4bbe-a4c5-0c4195054588 CLINVAR:252448 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11c669c0-1e26-43bf-8f41-d2df11586c8c CLINVAR:252449 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13f977fa-77e8-470c-9592-290d82d4851d CLINVAR:252449 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5544d049-435f-4a68-a986-53739597c4bb CLINVAR:254614 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ecd20797-550e-409f-8110-a1905145c510 CLINVAR:254614 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05a7165b-bddd-47c5-ab91-7780565a12dd CLINVAR:126162 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 108fffce-b570-44fe-8d98-f06544502028 CLINVAR:126162 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9686638-60fb-4e15-90a5-1c842d022e41 CLINVAR:52435 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df9399cc-7790-426f-b2a7-8a9963881e32 CLINVAR:52435 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7712e519-a25f-4ca1-b306-0fd6fa73f74c CLINVAR:267043 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 789efa64-0439-46d9-95d3-53aefe514360 CLINVAR:267043 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c30ec72d-4f04-4e1c-859a-40afee776888 CLINVAR:52440 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76a4f037-4d22-4694-adb0-83c8d851ac92 CLINVAR:52440 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3ed3efc-7613-41e3-b4ee-903568040588 CLINVAR:548339 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fe6c7f7-cbfd-4447-a042-6df68e8a3422 CLINVAR:548339 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 318c2de2-07d9-42b0-bab8-b953492a59de CLINVAR:236284 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c66852af-3e50-4d01-82e6-a56a4e10f369 CLINVAR:236284 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4308b02c-3f17-4717-b490-a6a8023a9f5d CLINVAR:216857 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e640d7df-28b2-4604-9ac9-489bc3e7102d CLINVAR:216857 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c5e3ff6-9112-42be-8c33-11ff88c198a2 CLINVAR:267044 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d484420a-484f-471e-ba86-1ba8193fb237 CLINVAR:267044 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a9f338f-a7ef-4592-b050-880509c55ee2 CLINVAR:254615 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73ebb164-da9d-4d8e-97e9-94b5d427a8b1 CLINVAR:254615 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59e0f04d-2544-4e1a-8306-d397275eede3 CLINVAR:52446 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 186adebd-c9bf-428e-bd13-d29be9f4f6a3 CLINVAR:52446 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27e3e809-8e64-4ea1-8885-a8bcd0939f4b CLINVAR:489784 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2324133-c173-4a08-af73-05f2d99c0ad0 CLINVAR:489784 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c20ca58d-7985-4a8f-9a75-b380f1725bc7 CLINVAR:52449 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20c91a04-8a7b-4f20-b214-68cdbef31328 CLINVAR:52449 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d83000b-4fe2-4ba0-bb45-febc3ab3a47e CLINVAR:38128 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 820b8e18-cab2-43d9-9422-2881aa505967 CLINVAR:38128 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0fe96568-d1d0-4a46-9692-c130871b5b0b CLINVAR:409564 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82dc7191-5669-4877-8659-0405709c5ee3 CLINVAR:409564 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4b91649a-5487-4b4a-9517-72aced3ff32d CLINVAR:267045 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 076514af-361d-49ba-8ffc-e877a88c85ad CLINVAR:267045 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a74ea525-b5b3-4c13-bfd4-4e145d3c87a8 CLINVAR:38129 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c50d9e56-8700-42f5-ad27-47f57094e618 CLINVAR:38129 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c533062-f3f2-4ef8-920c-1e00aa3db097 CLINVAR:38130 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eab58c36-4e24-4d96-a0b1-ab07ac5c23c6 CLINVAR:38130 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e9b1ba8-224c-4924-9202-41325d4dc9ea CLINVAR:52455 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22ea367d-1289-481e-bed3-9969501ea1f6 CLINVAR:52455 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 299b5ca7-5d59-42eb-b459-c07aaaa694be CLINVAR:52452 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9b19be9-b805-49b1-80d5-18a396157359 CLINVAR:52452 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89123c0b-9a39-4fb9-86d4-62c3dc3d1b51 CLINVAR:52460 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78cf968d-f3a1-4df5-b387-83d5dd8962cc CLINVAR:52460 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 708cd38f-d0c2-490e-bb77-cd2cb8611ddc CLINVAR:38132 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba99af1f-ab2e-40af-a5d0-54e0e63bc815 CLINVAR:38132 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56b28f8f-e149-423d-b8ef-9fa2e5682428 CLINVAR:182321 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15b186ac-6cca-4a68-ab66-9c3b120465a1 CLINVAR:182321 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1efa9a20-fd3d-477e-b1b9-69bd89ed224a CLINVAR:431339 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6d6952c-cfa7-402d-b7fd-6ddeace34c34 CLINVAR:431339 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab97ac42-c84f-4dd0-a36a-1f8e69bf589f CLINVAR:52459 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4dffbc22-ccd3-415d-86ff-0eb28d59afa9 CLINVAR:52459 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92104eef-ca3a-4724-9368-f30cc1549971 CLINVAR:267046 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 381448b0-8598-432a-83da-ea3094f3dd34 CLINVAR:267046 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dcbb3115-9198-4181-9be7-e642291e43fd CLINVAR:267047 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2857bcce-0291-40e2-97b4-faeb30fd0015 CLINVAR:267047 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a003e753-a902-47fe-87ec-afb5f01307b2 CLINVAR:254616 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7dc91fc-0d9c-4fbd-8bfb-de88931042c4 CLINVAR:254616 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 864b1515-c091-4403-94a6-dbaf7bf63f17 CLINVAR:254617 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63bbc2d0-862f-4f5f-a4c5-23ef3db6d7fe CLINVAR:254617 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 628b3ea1-c6d7-400b-8891-78b8cd05557f CLINVAR:52462 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d815bbea-4606-4268-9579-091db5679d47 CLINVAR:52462 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04683d99-3a63-4a0f-bd52-7b7b63ff7ef0 CLINVAR:52465 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5d22f9d-3167-49d3-9bd3-0226f829e21b CLINVAR:52465 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74b806a8-53cd-4a31-8ab4-9e4a168833fb CLINVAR:422131 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7648f7e-87d9-4235-8c96-de1d26ec9470 CLINVAR:422131 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 623f03bb-be38-4a71-aa46-f2b40701b8dc CLINVAR:52469 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0509cd34-20ab-4834-9561-d4fa6a9355ac CLINVAR:52469 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 156c11ef-5ab2-424d-95c8-9f62b91f2e72 CLINVAR:52468 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6648a87d-2ba4-42d5-a6bf-2899c29aac84 CLINVAR:52468 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03f6f9a3-1cd6-4d29-a2ea-537e2d1589ee CLINVAR:431340 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80217bb0-11c6-4d52-826e-8a1adb26d97a CLINVAR:431340 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29d6999a-d920-4658-9f86-b704df6d1453 CLINVAR:267049 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36f24c00-4197-4e38-8e82-c7fbe2c07fd9 CLINVAR:267049 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fdabb0b4-2335-4b2b-b201-67974ce923e9 CLINVAR:232186 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09a24c10-f059-40ed-a73c-39913b2450a9 CLINVAR:232186 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ecc85c12-4997-4bee-8d88-ac7ced4e7ccc CLINVAR:52470 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 066cc671-c613-483c-8ca9-f8a1bbe74a64 CLINVAR:52470 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ba31304-69f8-4b7b-b13e-f683289861e8 CLINVAR:489785 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b8aa5e3-d299-475b-b19b-1a03b1715dbe CLINVAR:489785 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2754c22a-2760-4bb6-8166-082f6dc7086f CLINVAR:254619 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74af9d78-000b-4326-b5be-6ecbfa186ef9 CLINVAR:254619 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8631b4d8-0624-492c-99ce-110af8f398be CLINVAR:267050 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd0b30ba-182c-4116-9be6-eaf51c815f27 CLINVAR:267050 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d473783-4dae-47c8-a174-429de2e11498 CLINVAR:52474 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e77c6f95-5d6a-45c0-9f93-a9a5941edc08 CLINVAR:52474 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ffdea025-037a-48f6-988b-d03d22c6783c CLINVAR:52473 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7dd308b7-383c-4686-8bf6-0537b91e0436 CLINVAR:52473 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd8ff7f0-f4be-4e94-95f8-bc15054e3a94 CLINVAR:254618 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 707451e6-22d9-4701-add3-1259669c6c15 CLINVAR:254618 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ac47111-b3e2-4e10-93b0-7293c95899a9 CLINVAR:52475 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67a9f221-9f56-4987-9131-2e26a2adeb1c CLINVAR:52475 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e761e223-9566-4337-a5bc-5f0c55ab171b CLINVAR:52477 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c396719-26bf-4097-9c1a-873e3769b673 CLINVAR:52477 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1cb1adc0-775c-4154-93e7-90b4ab18dc5c CLINVAR:52476 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99f15811-befe-4927-b81b-d24635b10cb1 CLINVAR:52476 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1468fea2-b269-48a7-9ce0-0617a61a1698 CLINVAR:52479 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08201a43-992e-4cb8-b114-3e977d035901 CLINVAR:52479 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e76cca0-f9f2-411e-88c4-1cfaffe6330f CLINVAR:52483 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f09710f-d461-407b-9aa6-7177773d598f CLINVAR:52483 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01b7e6d9-4b75-485b-a7de-604ec8ed1644 CLINVAR:52484 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfb0193a-d157-4973-8903-59c746b06adb CLINVAR:52484 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16b51ccb-8ecb-418a-a41d-56e7f678b339 CLINVAR:52487 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce62ee76-bba0-40d8-abec-b8031d65541f CLINVAR:52487 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c13623cd-adf5-41c2-88c0-69ba745cfc63 CLINVAR:548384 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03ad399d-fd98-4084-a9e3-5b2b06afd09d CLINVAR:548384 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f269551-251c-4b8c-b458-1c9ed427f4f2 CLINVAR:52486 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0770404-d203-4a8d-ba4e-3fe93e493711 CLINVAR:52486 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d51ada6-02dc-4593-8118-15571c507701 CLINVAR:267051 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa51d4f0-2afe-4e1d-886b-fb8325889bc8 CLINVAR:267051 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f032a9fa-946a-4747-8984-eddd83f24c0f CLINVAR:267052 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2b1035c-1eff-4be4-ab97-f3c0dd1e6c30 CLINVAR:267052 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f705660f-ce68-4ce4-be50-2bdf638cb9df CLINVAR:52490 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da74d008-bbb9-4e63-b560-b0d02d8bd12d CLINVAR:52490 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f55661fd-a405-4fc6-950b-6df6f6dc7e6b CLINVAR:52492 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7711d2e0-08bb-482f-a060-a3547d43b114 CLINVAR:52492 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47288f44-da1d-4102-ae49-9e33a94185f5 CLINVAR:52495 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52e1f9ad-fa1f-4a93-9d46-2178eaf50113 CLINVAR:52495 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2f2833a-2081-484c-a80c-e3ddef912dd1 CLINVAR:267054 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbbfc603-863c-4775-a0ee-cb105b4be484 CLINVAR:267054 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58c8966b-7746-4b66-b344-dbbdd8116930 CLINVAR:52494 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9f5a65e-48b0-4d13-b324-72643ff79a49 CLINVAR:52494 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6731c7ce-f23c-4c25-8947-9361ed2a2873 CLINVAR:52493 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bf11f3a-d341-46f4-96ff-79c25d2cf68d CLINVAR:52493 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d05c7d66-117d-4db8-b31b-e7c5aabb0b1f CLINVAR:52496 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55e4d86d-007d-46a3-b8ca-e8bfeb260b3f CLINVAR:52496 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 770f58b1-0cc4-4c3e-9da6-32724931cd9a CLINVAR:52498 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b8629f2-0e63-45aa-9b74-bcc44f83a8ce CLINVAR:52498 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db13eb1c-7589-497f-b6ee-9a4c008e3695 CLINVAR:52499 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 452fdc5b-6e70-47e9-b4ed-9703b06ec228 CLINVAR:52499 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd961ad8-6125-4fc7-8844-813876fae962 CLINVAR:52502 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfaedab1-72d8-422a-aace-2b64e1529876 CLINVAR:52502 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7338fa8c-bd86-4efb-9761-ca3cf1f289e1 CLINVAR:440425 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52bd0395-446d-4357-93c7-e9e7d7630eae CLINVAR:440425 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e075bf2a-1305-4851-bd50-d97f51d2b23d CLINVAR:52501 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0022e1f1-db51-4983-a9ab-136ee6c45bbc CLINVAR:52501 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 040574cf-9412-44ea-bc16-6f5ce6fd5407 CLINVAR:267055 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 766b43ea-7a67-43f2-b22d-d32176e93315 CLINVAR:267055 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 870ad9dd-1c60-4201-a60a-919a339bcaa6 CLINVAR:52508 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e525d258-b0bd-455b-b70f-e6de85cf48d9 CLINVAR:52508 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1874ffc-690d-4d31-8ea8-85726c270436 CLINVAR:52511 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f323556-1d1c-4810-a198-a1546e4e3d95 CLINVAR:52511 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f65746b8-b8d0-4d4a-a5a0-dfd62117ce8c CLINVAR:431341 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8e115bf-29c4-4c9e-9f02-281a050f24ec CLINVAR:431341 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f13e020a-70c5-44e7-b86f-4fc682cad204 CLINVAR:216032 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2977d017-e96c-436b-b56e-a8cb9bfc8679 CLINVAR:216032 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e659034-e574-4a89-a97d-84f6266f36f8 CLINVAR:267056 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9be10dbd-b6f0-4c03-a944-b79630a09a80 CLINVAR:267056 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1dbb1353-3ead-4f07-a47c-0dc7a361bfa8 CLINVAR:52513 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d3f38c0-3146-4dd8-adfa-89b076be6008 CLINVAR:52513 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7ce65299-2785-47d5-a6ac-70052b15e067 CLINVAR:267057 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a809ab1-12e5-42ba-a531-a4a373a5d69e CLINVAR:267057 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 504a6cab-fe48-49ba-ad24-c99c87af7c96 CLINVAR:479367 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9070cb2-f7a7-438d-a3cf-f798c243486b CLINVAR:479367 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1e8963ef-751e-48f1-8bb7-c2394e40961b CLINVAR:9340 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e6a0be8-76fe-4ca5-b0de-32466f63596f CLINVAR:9340 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb055a1f-473f-458e-ab7c-39c3bb87b7ca CLINVAR:545487 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7aac2b53-7d3c-4978-8834-afb071aa1adc CLINVAR:545487 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8eb69fba-737f-4692-a23d-2add0c5a2338 CLINVAR:52515 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5474693-6f9e-4cac-a2b8-a0d6ead7bdfd CLINVAR:52515 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff1988be-1c4d-4442-976d-f8db44d71516 CLINVAR:52518 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cd0cd1c-7834-4985-b264-61bdab4d029a CLINVAR:52518 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe066f73-a3f5-4cb7-a4aa-3c6a5251a1de CLINVAR:52516 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89656303-0e27-4434-a766-1d3c08ef1e28 CLINVAR:52516 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel abb3b23a-90d8-46b7-8144-d807500a8920 CLINVAR:38141 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bce06c13-36bb-473b-89a5-6f5e84f56239 CLINVAR:38141 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02f69b99-d3a2-4db9-be08-ded702b7f1f7 CLINVAR:182273 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69057c04-cd21-440d-b430-01cb7a75baa4 CLINVAR:182273 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 361759ad-62bb-4d1d-ac18-5c257309e687 CLINVAR:182322 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90e846c2-2d9e-4d02-9eaf-287d98bde9e2 CLINVAR:182322 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41de8438-0aef-4a46-b016-bb1eb18e20fc CLINVAR:52519 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfd45b89-1482-4f0c-a339-e5b3d28a481a CLINVAR:52519 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 30e0e0f1-077f-4b0b-a152-fb6d7735d9ab CLINVAR:254620 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39ce7fff-c220-4f32-a75c-29f176fe49b2 CLINVAR:254620 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f66d41f-4253-4f7a-befe-6c23f8f2454f CLINVAR:126168 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef8cccff-7855-467d-8d9c-d11e038f0850 CLINVAR:126168 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f2eabde1-e104-41c1-835c-4845fa481571 CLINVAR:52525 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83ad074a-c349-4cd3-bb8f-6bf23041d599 CLINVAR:52525 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 169ce9a1-17f0-4067-b709-4a8c9e0054a4 CLINVAR:267058 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d2e324d-4add-4802-b6f0-e67a59a9316b CLINVAR:267058 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ff56fbc-3ed0-47af-8bfd-16f5c1b5c602 CLINVAR:267059 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 553cf338-66cf-4c65-b6bd-d92dbc577b0f CLINVAR:267059 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d3a0e77-08d6-45b3-952a-9a61691cce9f CLINVAR:52526 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0c839fc-2c84-4a7c-b5a5-6b2dfe640db4 CLINVAR:52526 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ce8bbfb-e7f5-47cc-9db4-c4498ae1b1c1 CLINVAR:91504 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bea8acb7-4f23-4805-bdf1-1cb951860eb7 CLINVAR:91504 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2763b291-7e97-4116-95e9-d9d319723133 CLINVAR:267060 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e68761e1-df40-4dee-a308-3fca4bbcbcb6 CLINVAR:267060 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64566557-f419-4062-b090-111afe296b35 CLINVAR:52527 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55aaddf3-32df-41c9-80c9-673cb914b8ee CLINVAR:52527 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f6ebd6e-f442-4680-8118-80c7a2ea2bd9 CLINVAR:430598 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83c6185d-7356-49db-81e3-7eabd40583e7 CLINVAR:430598 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50ba3abe-eebd-4b12-a691-eed3be3ba54a CLINVAR:38143 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ad28e64-e3f4-4f1e-a6a6-1ad787fe5099 CLINVAR:38143 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1a81f84-eeff-4d79-845b-dddc4d1bf7e8 CLINVAR:52528 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf18071f-23ab-4bdd-9f80-e41e7f9f607d CLINVAR:52528 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0b46ea9-0b29-487b-b62c-8f252bcb4dfb CLINVAR:548393 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af61fa3e-7575-4c40-9566-9cb3b1efdc8c CLINVAR:548393 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32230384-eb17-4c8a-8423-9ab9173d224c CLINVAR:126169 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e558a3c-8bfc-4e31-b1b6-8e2af19a145b CLINVAR:126169 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efe37f3f-e5c6-4b4b-b45f-27e76e66a8ad CLINVAR:126170 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b13c7a1-cfdc-4430-b73c-0062304006cd CLINVAR:126170 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ed37b96-9321-4d95-b4c1-ed9fdf0a1f7e CLINVAR:9343 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae1689e1-7004-4367-a420-f265a6f1b28e CLINVAR:9343 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e96b1c8f-ff30-4e6b-be42-51ade941c771 CLINVAR:236913 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad8470fa-c6e5-4095-87a5-7f7f619014c1 CLINVAR:236913 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 780efc6b-5ce6-49f3-b826-d73c1226438c CLINVAR:548418 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf241e40-4aff-42ea-8ab1-6c96bb8f127e CLINVAR:548418 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15639455-f4e5-4e86-95cc-4f0f73c3921e CLINVAR:52532 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fdff716-44c2-40d7-9125-d70f91ee2cf5 CLINVAR:52532 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 360e5555-0dd7-4166-908f-13d95301484d CLINVAR:52533 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 056819aa-414d-4f0a-abd0-7cdc0a534841 CLINVAR:52533 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5481aa72-fa6e-4dc0-9038-c185cd232cd2 CLINVAR:52534 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2c7a244-6bfc-47f2-a266-c2fa4b6785f0 CLINVAR:52534 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb86ac0e-7db8-4f87-97da-904c142410fa CLINVAR:267061 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bdb58123-2a54-40a7-a791-d8067c8dd1d7 CLINVAR:267061 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c06ec03d-1d53-407d-b31b-ac4ec5bedf9a CLINVAR:52535 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 955aa65a-1feb-498f-bcd0-fd61c8cfcb1d CLINVAR:52535 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb483464-e630-4003-a470-70f473606bb9 CLINVAR:431343 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d10a4aac-cebb-455c-9218-b2fd61a4f0ba CLINVAR:431343 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5bfc49b4-d615-45f7-ab65-71e017dbe8c0 CLINVAR:52536 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 453f5987-4380-485a-a920-36ddea32d825 CLINVAR:52536 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d77eace9-31d8-475f-89b5-902f38801b98 CLINVAR:548390 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14a9978c-f343-4ba9-be54-d6a1dfcb04a1 CLINVAR:548390 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7510aee2-e3a1-4f32-bcdf-70377d9d0efd CLINVAR:38146 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b4d276b-640c-4e63-9c60-d858aa6f39f2 CLINVAR:38146 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2f0c176-d93f-46f1-8c74-2c48b1ec4dc2 CLINVAR:267062 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5eea8a6-b118-4b03-bfe1-66236246da3e CLINVAR:267062 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c137cc37-0126-4a32-9ade-7b28888d9af0 CLINVAR:267063 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d469f850-3d59-42b1-944c-9f132c0f93ce CLINVAR:267063 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae721887-3f0e-4a2d-ac5a-4efb34838670 CLINVAR:267064 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cb58ce8-8e10-4111-86a8-53486fb7fd1a CLINVAR:267064 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18d67a5b-86a2-47bf-8db4-106b4aef9093 CLINVAR:52540 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d73e3cc1-35b1-4569-8afc-98332d018c55 CLINVAR:52540 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 074a3708-db5e-4369-a5f5-f33cd4c667f5 CLINVAR:267065 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c797109d-cd5a-4fb0-a39b-6ead78099a05 CLINVAR:267065 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37ca6340-1bd3-45b8-9b07-9052abbdfe36 CLINVAR:267066 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe533e7c-185b-4e08-a029-c68ffc1dbd20 CLINVAR:267066 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa45eaa7-b189-488a-9ab3-a9872e9baaf3 CLINVAR:52541 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bd2646f-8bb0-49c1-afc6-014f4e4dc2b6 CLINVAR:52541 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3009c0da-8f0a-4362-9908-4fcd41ce290f CLINVAR:38149 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f0cd48e-1b4c-45cf-9faf-b03f7c6d8273 CLINVAR:38149 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ba2eb44-135c-488c-8955-318809964cac CLINVAR:267067 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48c937a0-c90b-49d9-9f39-70b3bdecadf8 CLINVAR:267067 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04e8918b-82a3-43c6-9b2c-1037d994ee1c CLINVAR:91506 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e59c9b0-9527-46f6-a825-81183aae82b2 CLINVAR:91506 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93fddcce-a1b9-4727-9c42-ce2dd17a2797 CLINVAR:252854 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b77b217e-95cf-4b65-b6cd-336c79eccd84 CLINVAR:252854 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63941c17-7147-466e-9269-8c4f616e41c5 CLINVAR:52543 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a24f04a5-b1bf-4690-bd3b-6cff38e875b1 CLINVAR:52543 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a56db3b-cf77-4593-9ebe-21a071cf212b CLINVAR:52544 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dbca8cd-d4bb-48b7-b85a-9a331dc94b9c CLINVAR:52544 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 450af167-ac5a-4408-8ccf-bf01767f52c1 CLINVAR:267068 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01d82247-552b-42a9-8854-931f700587ac CLINVAR:267068 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8cb7cd98-4c7c-44a1-b63a-97d6df6f1dfd CLINVAR:38153 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d4814ea-3e90-44b6-add0-194d203f2b33 CLINVAR:38153 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5cd3595b-c108-4995-b81a-83b1c39e84a6 CLINVAR:126174 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48922b88-bcec-43ae-a189-fd636cb30686 CLINVAR:126174 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22d576fb-468a-46da-ae3e-6eac684c3a99 CLINVAR:267070 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdfb6aa4-6a1b-4b85-a26d-9e8ee47c72df CLINVAR:267070 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59d72226-2d33-4a5b-9551-e8f31967b68e CLINVAR:267071 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4d046e9-f40a-4b37-a42e-be6f7405fadd CLINVAR:267071 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a814ba0-fdc1-4703-9c39-c23d2903e098 CLINVAR:52548 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f8dee75-6fbf-44d8-82a2-b110ddb2d9a3 CLINVAR:52548 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0299dbb5-ca00-4f87-959a-688f4538abea CLINVAR:267073 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84ef0e11-cc82-4975-b2e2-383ec5ca00e5 CLINVAR:267073 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5321cfa1-da1c-4e26-9149-8293b0a520e9 CLINVAR:267072 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7025dd0-72ac-4d8f-ac61-0317214c1318 CLINVAR:267072 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bad832ee-49b3-493d-a5e1-4760226d1f47 CLINVAR:52549 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb4a812d-9fd2-4e13-b5c2-bc4b4de39aad CLINVAR:52549 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1c8653e-8dd2-40fc-a12c-76d69ce243bc CLINVAR:52556 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50f8db7e-e7e1-4bdf-ba80-381d85b2c561 CLINVAR:52556 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1807a3a-7896-4263-9f3f-2c50feeb3ea9 CLINVAR:52557 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ccdbfaaa-4777-4ead-b66b-35e3c390cf5c CLINVAR:52557 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 69c8f42f-f007-4f18-b557-aa4da7684e01 CLINVAR:267074 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d155c1cd-96f8-4d94-8393-08fc1103d75f CLINVAR:267074 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12646377-2857-4e28-afd7-19a4d8114216 CLINVAR:52558 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38db56e5-b667-47c2-82cd-b5e2e776e1b2 CLINVAR:52558 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87f9b90e-0a76-42bd-8b34-c29325768221 CLINVAR:267075 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aed1e614-af47-48dc-8558-c7e61adb539d CLINVAR:267075 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d97cc901-152d-434c-8091-9afb5b8ae1f7 CLINVAR:232875 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ebc028ad-6692-4ceb-8d3b-fb9415bf79a2 CLINVAR:232875 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4746f49-3b76-4672-bac8-f9cc6cefe980 CLINVAR:267076 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e97521a4-ecba-4df8-9e1b-b662b0246030 CLINVAR:267076 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 074ec6ef-e93a-455d-9e25-3836466f0534 CLINVAR:52563 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f50b707-64dc-4dc7-a4af-f5d12dd7b38f CLINVAR:52563 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9a578da9-b9ba-408a-9aac-844c9e84f96c CLINVAR:52564 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7fc25a0-ba2a-417e-ad40-598937fbb5a6 CLINVAR:52564 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel adbca69a-ab87-4a64-a326-47af7a126fac CLINVAR:52566 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7b76e00-51b3-4c8f-8242-06cd56b899d1 CLINVAR:52566 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d94fbd67-19d2-43bd-a94c-b4d5207489e2 CLINVAR:91510 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d162248-6e5d-4a4b-8fb1-15db0e888c1e CLINVAR:91510 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3fc7fe21-bc9a-4608-8530-425d87f74e45 CLINVAR:267077 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec43524c-b71f-43bb-8c4b-ad91b8e5b118 CLINVAR:267077 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 628fbada-ac28-4380-bd41-a6e88cf13bca CLINVAR:548403 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52696978-781c-4fe0-9b00-fb0dc28026fe CLINVAR:548403 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a0954b4-01a3-441e-b107-a22fa9e2d1b2 CLINVAR:441402 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d49c501-10a2-4ab9-9b6e-d9ab87f91625 CLINVAR:441402 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28ef315c-72e7-4526-bd0d-43387465496c CLINVAR:52568 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f53d677-28ee-4c85-876b-3788298af4a7 CLINVAR:52568 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0bcfed36-2421-494f-9653-1f942e354f9f CLINVAR:481525 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06b58440-a1e1-4022-abf2-407f734d5142 CLINVAR:481525 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 17efd656-05a9-40d7-b852-2ed58ce9b925 CLINVAR:254621 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 302806fe-4a81-4f5b-90b6-9d2e07d76daa CLINVAR:254621 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88025f39-b63c-4942-8279-92f503c4ea29 CLINVAR:254622 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b754b4be-431f-4469-9b38-0998d2e8b777 CLINVAR:254622 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0e69b4f-51a8-475a-a1f2-e88d54a899ee CLINVAR:267078 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abb088b9-2a88-4142-9bdb-c3769b89b872 CLINVAR:267078 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02a8e503-e461-42e4-8fbf-250ba606db95 CLINVAR:141363 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 777f28b5-7dfc-42f2-9c45-cf6ca76d15d0 CLINVAR:141363 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 472452df-5655-441f-a031-ecd1459c8f64 CLINVAR:267080 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c3da79c-34d5-4616-96ed-9da5fac10a54 CLINVAR:267080 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3dfb05a4-37f1-4601-bcbc-82cd0f2494bb CLINVAR:267081 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c67ea36-60f3-4719-98e1-5c0e565d07f3 CLINVAR:267081 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2599299b-d297-467d-8330-9f6bc43e3b29 CLINVAR:267079 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c6c064a-3e15-42f0-be40-cb45a29a90c4 CLINVAR:267079 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1f77608-5cbf-4a01-a866-1b6ea4603dc6 CLINVAR:52574 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6aa4fd37-dda1-4791-b24d-5a2dc649fc61 CLINVAR:52574 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a87a250-deff-47bc-88a5-fccdb18df7f3 CLINVAR:52573 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e515dec0-0138-4bed-96df-3e09227a4d24 CLINVAR:52573 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 928d03b9-d0a3-413a-acf4-b9b432026eb3 CLINVAR:440435 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca71dd4e-85b8-4546-ba3c-a1dfd89750dc CLINVAR:440435 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5584b21a-0427-40f5-af22-bc8bff9e2d93 CLINVAR:267082 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 125638d5-ade5-4d9a-809a-29bc6b8a86c4 CLINVAR:267082 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6f4ce99-7dfd-458e-bbb8-68492fc065d5 CLINVAR:430597 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8443f352-2396-467b-9a71-e0eb9d67d565 CLINVAR:430597 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17308156-dc84-4da0-aa89-4cca6b5e6a14 CLINVAR:267083 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d324f18-a631-4dda-831c-2114be047f20 CLINVAR:267083 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 338a8ee1-47c6-48cc-ac15-c5bf6637d803 CLINVAR:52579 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff3fed24-58c6-4a0f-a51c-a64e9f4060b9 CLINVAR:52579 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 95fd6510-1b7d-476a-b79e-2810eca465cd CLINVAR:52580 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c924acbc-66c7-419a-a638-f715a6eb4f77 CLINVAR:52580 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 391914e5-cd9b-411f-9c56-81a44d64f779 CLINVAR:38159 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70a0706c-4d80-495f-8eba-9f57920c93b0 CLINVAR:38159 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00a8a9eb-ab62-4204-b588-e52a67173e3f CLINVAR:224524 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 995c2dd7-a0b2-4fdd-83f1-0bfeb5e4f9c7 CLINVAR:224524 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb046a19-3917-475b-be7d-6aa39b8a93cd CLINVAR:216033 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 531c98bb-329b-4bc0-8b43-6941bd164ff5 CLINVAR:216033 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17082ebf-7790-460e-9768-ef1db4f1b991 CLINVAR:409460 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a0ef57a-fbc3-462f-879c-b432b66bae86 CLINVAR:409460 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6139175e-6a70-4bf2-9322-3d98f428d3d5 CLINVAR:548391 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c283d0ad-1e5b-4f27-8463-0c0efcc5dac9 CLINVAR:548391 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df1cf6b8-5852-40a6-9883-df473f348eb1 CLINVAR:267085 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30270a2c-16d2-4758-bccc-cf3c6d22f536 CLINVAR:267085 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4b7b878-2f85-444a-9746-5edcd128fc52 CLINVAR:52587 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58689417-6a0e-47fc-88f1-e488d9b735bb CLINVAR:52587 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d74c53ab-e817-431f-9764-84a83bee0f71 CLINVAR:267086 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 757b9315-c34a-4eca-87c7-98f2522a9f86 CLINVAR:267086 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f1d9eff-05c0-482d-a082-b6031e15cecb CLINVAR:52591 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fce4d19c-73ab-4371-b8c9-324598910bc2 CLINVAR:52591 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e487032-ac48-4616-a167-f71f2021933c CLINVAR:52596 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1c17a68-3a35-4b0f-8312-ba6564b9cd71 CLINVAR:52596 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 317bffc1-06e5-4bc7-b859-1f3ce422f31f CLINVAR:96867 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9d13ea8-02b8-4bdf-b8e7-203da6949dc9 CLINVAR:96867 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5053635-2e74-4912-9612-6f840137449b CLINVAR:267088 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5868f78-e215-4250-b580-8114a95a749e CLINVAR:267088 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 756f8294-3cd0-437f-b449-a277bee7e6ec CLINVAR:267089 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64b18f45-802f-4012-bdde-dc64912aed0d CLINVAR:267089 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a70d3307-11b3-460f-9d38-1e21210a6788 CLINVAR:52597 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b978cf4e-cf51-444e-b6cb-639f49578b47 CLINVAR:52597 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd8c7986-0bf7-4b18-b36f-18673b946503 CLINVAR:254623 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47fec3dd-1e90-4a35-8d04-ee316fabe946 CLINVAR:254623 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 808c72eb-3f5d-43ff-9f86-6af173c47325 CLINVAR:267090 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cf042b5-1851-4927-b6c0-be452d579a09 CLINVAR:267090 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa9e7314-660a-484d-9f1d-867c22f3f717 CLINVAR:52600 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f25aba0-47e7-4ee0-a7cc-70f9ae4e31e4 CLINVAR:52600 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20e729c0-d712-4c83-8dff-93bf55c759c7 CLINVAR:52602 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff3c91ad-cbb5-40ff-9c21-b20b2540677e CLINVAR:52602 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cda3b9f9-9b6f-4996-a9e5-0b0a70122ce1 CLINVAR:254624 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79cbe132-4d47-478e-9e95-7e372a99621c CLINVAR:254624 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d67190c-debc-4433-9e83-1b87970ee499 CLINVAR:38164 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 135de7e9-8abe-4988-ba20-a8a8fdfd32e1 CLINVAR:38164 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb40f175-37ed-4965-bbc4-b60ab9d9f39b CLINVAR:52605 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb8ccf64-23b1-4cf5-a271-6137a6763419 CLINVAR:52605 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0eb56178-516a-4a4a-b469-81d47d8a9c51 CLINVAR:155722 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bea83e95-7f64-4a91-9e52-6bc8cd94dc1c CLINVAR:155722 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba5bf81a-d5b0-41b7-8658-c1b66fee8533 CLINVAR:441354 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 076965d1-d487-4cc8-bab6-e54c315e18aa CLINVAR:441354 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d7f84c1-e5b0-48d0-a9d9-6e67271a5248 CLINVAR:38166 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c639e7e6-9e41-49cd-af71-cf6b4d0eb446 CLINVAR:38166 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9856aa85-bf29-4520-95f9-c82b072ace25 CLINVAR:52607 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2e42482-40ed-4410-b237-c97181def670 CLINVAR:52607 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1dbf2529-5c1b-4817-b7a6-8ebe28379475 CLINVAR:267091 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fba80079-68bf-4f22-804a-cf6987cc1c71 CLINVAR:267091 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3d1a385-5bf5-4e0f-8130-91981b6142ca CLINVAR:52608 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb67b3ea-f091-438e-8459-1ea0c5faf6ff CLINVAR:52608 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1fe970d-de06-4d46-8dab-61d17e850670 CLINVAR:267092 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fadf23f3-5e2c-4f6a-a72a-fbbc5c9d2b4e CLINVAR:267092 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a337a7e7-017e-40e3-a9ec-fcb511a9409b CLINVAR:267093 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b2b10d3-220c-4664-91e1-04814a0552ac CLINVAR:267093 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ba104d3-46ec-4ce5-8453-301ec5be2911 CLINVAR:267094 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bd6b0e9-abf4-47e5-bb79-a73b228b9a42 CLINVAR:267094 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c219034c-5810-4f81-b055-3441a1de19fe CLINVAR:267095 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4a2a71a-de26-4f05-96aa-d7fd9f6e7436 CLINVAR:267095 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2ca124e-bcc3-4a1f-b4b9-9accab0cd52f CLINVAR:52613 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c31f650-ecab-429b-8050-65469d708221 CLINVAR:52613 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e20e29d2-a81e-4cf4-aab4-c26620966242 CLINVAR:438382 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af02e480-f4d6-476f-8cf0-02d3ad7913ee CLINVAR:438382 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b78c3ab-c4df-40d2-a989-658034be0983 CLINVAR:52614 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24d367ca-e31e-4c01-9013-29eed2964f94 CLINVAR:52614 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f620451c-a030-41ce-b5e8-c4f69a668209 CLINVAR:9328 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ef47486-123e-4a5d-8647-e822c91a418d CLINVAR:9328 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de71f7d9-5d0d-4fc3-a7f8-21df2b177842 CLINVAR:52615 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ed03e55-ba5c-46f7-aebb-0e3616becd25 CLINVAR:52615 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b08ce3b9-99aa-4ecd-a39d-3b95729c3d37 CLINVAR:267096 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b81b1256-362b-4a93-b250-2111c7c2b370 CLINVAR:267096 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65f42bef-b62b-43ed-a8a9-7d57bcb61d4e CLINVAR:52618 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65151764-6a7f-450c-b735-fbd2436a5bf6 CLINVAR:52618 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fdc18cb8-e89d-4e71-a08f-4dd82126d20f CLINVAR:38167 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ef32f06-cd99-4ca4-ac98-c887cf260fbf CLINVAR:38167 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ccebb339-357a-4765-9dfe-253cd2ccafb9 CLINVAR:372573 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5e40490-696a-483f-b18a-e70043db9c07 CLINVAR:372573 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0cef6e89-eced-44a3-a44c-cfd0621a84f8 CLINVAR:52620 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7d5192e-5729-42cd-b7a3-a0a90f874fc9 CLINVAR:52620 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6316123-278d-40ed-8e02-c245a51d79f6 CLINVAR:52621 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95b0550d-10b5-40f8-9143-6ab0b6d62bf6 CLINVAR:52621 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eba7b63b-bb7a-406b-bbc2-f14b5f2298a0 CLINVAR:267097 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 525c43b5-cd0c-48cc-8f57-25762830c692 CLINVAR:267097 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b679dc77-821a-455b-8d3f-4650dbde0e8f CLINVAR:267098 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cb867c5-c07c-49b3-8fba-fca688a63e93 CLINVAR:267098 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0fe7db8-3f16-4d4a-848e-d4f7bd618c4b CLINVAR:225754 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2267863f-f475-4849-bb56-6e0514cfa868 CLINVAR:225754 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7273b5b-3081-4f9a-9730-af28cc140c35 CLINVAR:267099 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d34a51dc-e8e0-4cf3-a940-fddd7e805cc3 CLINVAR:267099 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 973602fa-0f85-445c-acbc-35794e9c4762 CLINVAR:52624 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d82959b-28cb-43b9-a57e-40f641b726d1 CLINVAR:52624 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba0ad6ef-0150-4be6-86ee-f6316a6471db CLINVAR:38169 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0bb60d2-627e-4476-9ea4-8d83f8754284 CLINVAR:38169 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d14ec5a-6430-49e4-8321-968f2297bcf7 CLINVAR:52626 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c11e9bd3-8397-48ac-b22f-289008475901 CLINVAR:52626 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c45e68ce-1222-49f0-8b02-aa4e988fec41 CLINVAR:52627 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cd18ef9-b11b-46a1-bee8-806cfc7df681 CLINVAR:52627 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab2c072b-b021-4732-b6c2-f25ed02e7efa CLINVAR:126183 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d2e98fe-9ac1-48c0-bfce-b1e9edcc1342 CLINVAR:126183 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be7f515a-cd3c-4c79-ae43-a32073519f56 CLINVAR:91515 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ab8c6e2-0e0b-4575-b4c2-65aa0e107cf1 CLINVAR:91515 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 078ce80e-3a24-4b12-8b47-d4c2bb474b25 CLINVAR:38170 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd344cc4-5012-46ad-a69e-94dcfd095bce CLINVAR:38170 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b6468800-0aee-466d-9e64-f21ce7727c08 CLINVAR:236920 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 926eef98-9892-473d-aba1-3271a10df65b CLINVAR:236920 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1fc2c403-e49d-46b2-8200-cbc93c6a2f9f CLINVAR:548440 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0f57a3a-fb73-4048-b77e-a1b7587ecbcc CLINVAR:548440 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c2412a8-312e-442e-b065-a6359dabe434 CLINVAR:52631 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f4bbf3f-7eea-4be8-9a14-2949bafe3a35 CLINVAR:52631 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 987397b8-faab-408b-ab0c-c0f09b338124 CLINVAR:52630 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc143d3f-ad33-4e43-aca4-fc91b124d24b CLINVAR:52630 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel badc5bc0-cfa7-437c-8521-8112366d86b5 CLINVAR:52633 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ec02738-d3cd-4978-b5e1-6f3776ee06b2 CLINVAR:52633 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b2d0e84-e116-418e-a2ef-b5ea4392b96d CLINVAR:409569 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6940f39-43ab-44b4-80eb-90c2c7207b91 CLINVAR:409569 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d16303b0-c6ad-4921-bd26-0c546fb78fcc CLINVAR:141787 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64e0b0cb-03da-4c4c-8f23-13b260551bd5 CLINVAR:141787 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5184c952-1ce8-4f39-bb07-62f64806d495 CLINVAR:52635 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ccd18a2b-beb8-4e97-93bc-dd1efc1c00f9 CLINVAR:52635 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f06457f-cac7-4edd-bff5-0487725a8d89 CLINVAR:52636 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00204c72-1159-4fef-9556-45be148472b9 CLINVAR:52636 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 315e0f0a-26b1-4dc2-a841-dbac19dcf55e CLINVAR:52638 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 756c37c3-9508-461e-b54d-4bef22ce25e6 CLINVAR:52638 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0c2d3a4-4c19-4c72-8ebc-4da5d45d6b7c CLINVAR:267703 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72b9f133-940a-47eb-9ed5-90194f5662de CLINVAR:267703 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b407bb8-200f-4ac5-9f98-a6c98ee14ac9 CLINVAR:38172 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb1cec35-90d9-4a22-b72b-3205fe2b6f77 CLINVAR:38172 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 318225ba-b4ee-4f96-a348-92ac4c67a318 CLINVAR:52646 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddaa4f35-6bb3-4558-9a00-46418ad25a5f CLINVAR:52646 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24b9beb9-ea0d-4fa7-abbf-f4dfff61f553 CLINVAR:254625 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4661e65-6dc7-4f88-b30c-6b2bf44b6b71 CLINVAR:254625 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a19fac42-6c2c-49a0-b539-7ebbb9215332 CLINVAR:548427 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 337a5eae-911e-4c00-93c5-98baa671d42f CLINVAR:548427 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff6cd337-1d16-416e-a7de-fbf8e2bf571e CLINVAR:267101 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b85df174-5d13-4ac0-b0b9-d75b544e735a CLINVAR:267101 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb755b93-1562-4d39-b255-aa0b10271050 CLINVAR:267100 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 715bba97-ca94-4e97-9e92-41c4f376c0db CLINVAR:267100 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbe7bbd1-d6fc-4cf4-8cee-66c02ac3fe16 CLINVAR:52648 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1044ab6d-f802-4e16-a238-1cf64e4d32cd CLINVAR:52648 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13ae780f-1e98-4f01-926a-2d91dcbb4f6e CLINVAR:52649 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e113fa6-ab23-4488-828d-48ad235ee003 CLINVAR:52649 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b900ad26-29a2-40c0-b600-48b1385785b4 CLINVAR:254626 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ced1cb1-e703-4eb0-93b9-b7fcf0096955 CLINVAR:254626 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f27be0c-deb2-4d19-9ae7-3294b6891990 CLINVAR:267102 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c61a11ee-1a18-4fb3-87f9-cd9f34dcb827 CLINVAR:267102 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c7054f9-18c9-494c-89a9-c17413277b1b CLINVAR:431349 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78e295fa-7398-4620-b822-8df4344d51c5 CLINVAR:431349 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 299cb186-4370-4c77-8e7e-8ef15a4abf5f CLINVAR:267103 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bdc46ff9-fb15-4b42-bec7-d878d020e3ed CLINVAR:267103 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d71b6c74-4c35-4e77-b93a-de0299d6d3dc CLINVAR:52656 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1931b260-a111-4f33-b541-871b3469daae CLINVAR:52656 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb2480a5-f542-4a45-9faa-a40a2fa6e2a6 CLINVAR:52657 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a2925b1-da4e-49c8-8e34-30593278f86d CLINVAR:52657 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90cdc81b-0ef6-448e-a60d-06b70d83438b CLINVAR:38177 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9811e254-be73-4689-9962-9b1c9baf2c79 CLINVAR:38177 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 727a6095-4b34-4652-80fa-d8772ae73dde CLINVAR:38178 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0de012b6-2854-4b00-b761-8758945bad8e CLINVAR:38178 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb48cc0b-a8dc-47eb-b73d-637649048bb5 CLINVAR:52658 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b6d8969-7766-4cc9-b089-ad34675651d7 CLINVAR:52658 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b514227-5123-4e2f-8f0c-971f0629d96b CLINVAR:38179 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f90ca0a-171c-4b00-9e33-c9d0ebc01b4b CLINVAR:38179 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b460e082-7613-4ea6-af78-a04ee9342adc CLINVAR:548407 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 919f8d54-70f1-42cf-9a59-803c5338843a CLINVAR:548407 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b81aecd-4ae9-4bed-943a-a42e3e6d5d0a CLINVAR:441312 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22b08c23-1ba5-4e35-a599-800281727e91 CLINVAR:441312 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79bfa600-44ce-426a-98e0-d68a1daadbe3 CLINVAR:267104 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4a7754c-8db7-4cd6-9a63-cacae56242d7 CLINVAR:267104 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b8fbf22-b054-4636-b23c-9a3423ecdc25 CLINVAR:52660 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2548480d-5972-4c56-9bb4-d4c1012bc15f CLINVAR:52660 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 127a60d8-8a11-4b8e-9be2-5e9a887fa8b9 CLINVAR:52661 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9550553-c3bc-40ae-905a-06adf897207b CLINVAR:52661 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e087db12-4e4d-4512-b8aa-ac68c045bff4 CLINVAR:52663 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e6e26b4-0709-45d9-80e8-dac158cc0ccc CLINVAR:52663 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27be9f48-3869-4b3b-bb7a-46e8889a3772 CLINVAR:126189 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f8b5d3f-9184-4c38-aaab-785472474ca4 CLINVAR:126189 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 616e1515-18a5-454d-a1db-503321f991c0 CLINVAR:52669 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8441e803-b520-44e0-a769-15db00fbbd88 CLINVAR:52669 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4dd6c0d4-8849-4e0a-9515-3c68bfbdf7d5 CLINVAR:52674 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 514f6878-79b4-41b7-b4fc-b7439a2e2c60 CLINVAR:52674 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f8b14d6-15b6-4854-95ab-5d19163d1bf8 CLINVAR:38183 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06908517-8bcd-4e97-b8c5-ff8378a984ea CLINVAR:38183 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8bb6af73-e931-4773-8fff-bc7bb175bd9a CLINVAR:548432 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 101f8b96-d19b-4064-8a0f-cf3fe6192f92 CLINVAR:548432 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fae49031-083d-4cbb-950a-3880f309038c CLINVAR:267105 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a68ab69-e13f-4e40-a919-a69ac42c049b CLINVAR:267105 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1828e0d-157a-48c3-a6f5-b837a38c111d CLINVAR:254627 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 740d2a4c-5160-4b40-a5f8-a48ff7299e5a CLINVAR:254627 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 104c502a-33df-4856-83fe-917f6b13555e CLINVAR:52675 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad7bb289-f320-4b09-b620-92a5866bc4f6 CLINVAR:52675 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82c88329-f55c-4e93-ae88-a275b01fb92e CLINVAR:52676 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9bbec89-308a-4243-a039-cc8a10acfb27 CLINVAR:52676 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09b2de28-8fa5-445e-bd11-5dd4dbd7b20c CLINVAR:267106 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2ebdec0-e90e-49a3-a06f-fa0493c0f35f CLINVAR:267106 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0260294d-cf5e-4f27-a078-ffb14c1e7f61 CLINVAR:52680 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9d84356-eeb4-453c-88c0-14db7272770e CLINVAR:52680 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7842d3c-95d4-47e5-81ae-0fa1dc0acd5b CLINVAR:267107 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3915eb3b-954b-490c-b675-a1bc2cab52da CLINVAR:267107 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4447052-f71c-4740-9f64-1fc3f23d9218 CLINVAR:267108 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24a8cee8-b89f-4ad4-a5e4-b270ea6b27c9 CLINVAR:267108 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41b8983a-bf71-44c6-93c6-f92f5ead3a62 CLINVAR:52684 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38d519d8-7b20-42ee-bab3-0b32822023b1 CLINVAR:52684 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09d32fc4-9931-4003-90c2-f8eb6fc76d88 CLINVAR:52685 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf826782-1bdd-47b9-837d-ddede09bbd14 CLINVAR:52685 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f07f186-df31-4f84-8e7d-21a5c5a47563 CLINVAR:52686 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 983fe1a7-d93a-4474-9ce7-3a8ee33e2ab2 CLINVAR:52686 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3c3a102-d192-44b5-9d4f-56285a50d0e1 CLINVAR:548409 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8d01684-6ed6-45db-a5df-1b90a188090b CLINVAR:548409 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2a2ce9b-0a05-46c5-91bc-af7f14350a85 CLINVAR:52688 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c383963-8778-43c9-8bcf-c269504c70c3 CLINVAR:52688 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a7ff3cd-5238-4303-a920-a3baeab261d1 CLINVAR:267109 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d4096e0-57eb-4344-8816-fe72da9f04ab CLINVAR:267109 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 598c61c1-6fde-4a63-9db1-85c9800d43e2 CLINVAR:96874 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50da75e4-5a12-42e5-801f-d4be25013ba3 CLINVAR:96874 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1cc373b1-7021-4ad5-8ee0-1231293d3cf8 CLINVAR:91736 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07b44d51-8deb-4def-9f3d-78d7df3bf9c2 CLINVAR:91736 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89d1f17c-3f60-4676-9e83-c680bed68655 CLINVAR:52689 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 514e9589-cc35-40c4-8b06-82698f97694a CLINVAR:52689 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4a92a8d-f64b-42b1-81a0-7287a5ffc936 CLINVAR:52690 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe641cf6-da02-4e31-9930-418e8551f2d6 CLINVAR:52690 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6df91f57-a691-4e11-a76b-449257468b4f CLINVAR:52691 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 685387de-99d6-4af6-9917-bfc4d3d53048 CLINVAR:52691 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26a36443-6157-412e-a303-e372aaf9e8b6 CLINVAR:267111 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34535561-d3a6-40fd-8fcd-9fe29034a851 CLINVAR:267111 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2953ca5-fa2b-4711-9f26-3678d702fa9c CLINVAR:38190 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83a21bd6-3538-4cc7-a8fe-514d22713d85 CLINVAR:38190 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed6ac4dc-6f15-4484-b339-44863c08d7a5 CLINVAR:186398 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a5f939c-3677-4491-9bef-05b0207d6ace CLINVAR:186398 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8961d9a-f380-44dd-9cdb-9f22d69d51de CLINVAR:52694 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed8d0f34-39a9-445c-b660-12c0056d6cd2 CLINVAR:52694 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d309d1a6-18e2-45a5-a90c-83cd6d881da7 CLINVAR:267112 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d842878a-7780-4ff8-856a-9bab6237d5fd CLINVAR:267112 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5efc0f6-0066-4e4f-aae9-a8e28578d0ed CLINVAR:52695 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 321eb7a7-85b3-4eff-9444-81c5bd04033c CLINVAR:52695 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fb226eb-c8b4-4af5-8428-b34a01b2481b CLINVAR:267113 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a885e61-5e95-43d6-98f5-10994700ddfc CLINVAR:267113 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 091a2143-8624-4e2c-a54e-e11d47fabde9 CLINVAR:38192 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 459c687c-0d98-432f-8f85-7e682bfec6de CLINVAR:38192 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1402b4e2-bd02-4e52-bf0e-5252dacc5053 CLINVAR:221071 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 161759db-bd5f-4a53-bdfa-307120a30d7f CLINVAR:221071 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57809787-37ae-41f2-885a-7b82a01b8218 CLINVAR:267114 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03ed98ae-23cb-4ed5-82fd-2bdf6eb0e547 CLINVAR:267114 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea88c86c-c2f9-434c-b535-13ab34332fa7 CLINVAR:52699 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c485571d-20d1-4fea-87b6-15768af83c0c CLINVAR:52699 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01571af3-54e8-4172-a88c-1fb1d865588f CLINVAR:52698 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e34ddb6c-3dd7-4600-af55-47ce63d11861 CLINVAR:52698 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78c83697-6198-4eef-9638-dbd8f5374288 CLINVAR:254628 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e23f2a08-5341-489d-af62-eef988919cc8 CLINVAR:254628 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dee59223-37f4-4f7a-85d7-de72fb7e3a34 CLINVAR:52701 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10fa36d5-62a5-4e14-9ba8-e351d48b3e6f CLINVAR:52701 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b003e6a8-915b-4c1e-a3fc-b59bf089f6e6 CLINVAR:267115 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cead96f-f4f6-421b-87d3-8b2a4007e2a4 CLINVAR:267115 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33d8c4aa-ae1b-4ce1-bdbb-f3534921880b CLINVAR:267116 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7dc0d2a-0076-4bf0-a3da-40603a5644ca CLINVAR:267116 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51038a96-9a14-4253-848c-99fcf815e4c2 CLINVAR:52703 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b45ad3a7-8ad1-4606-b2f3-44518cbc411e CLINVAR:52703 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 486b51df-6f54-4f7a-b6df-17fbf09e79d1 CLINVAR:225755 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5483c187-7ecd-4cbc-8a6d-32ae1ed48205 CLINVAR:225755 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 376baf86-9ae2-4d7e-83f6-e6d049502344 CLINVAR:267117 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7597bad-bfaf-4707-bbcb-fa395a557a0f CLINVAR:267117 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a222e145-c213-4a06-9e4b-ce620856f0f1 CLINVAR:52704 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7dd100fe-3380-4fea-9e04-4554576d306e CLINVAR:52704 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6bbcb7e-8261-4a67-9ec9-2ba44866cad6 CLINVAR:38195 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05584ee3-0a30-4cda-89a7-c853fe9791b6 CLINVAR:38195 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a93a64c-fb5b-491e-ba9c-a61129cc6e62 CLINVAR:91737 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa74415f-df36-40af-80a6-d7be5539afb4 CLINVAR:91737 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e33d4d2-3c5c-4f98-8d74-406baf9376a5 CLINVAR:418600 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45fc0214-031a-4084-b773-9583b4e6bd9b CLINVAR:418600 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76ef4fbb-9da7-4d2d-99f7-aa54d6eba369 CLINVAR:267118 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d5accb8-1a7b-45f3-b54e-c26ed983d271 CLINVAR:267118 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 070172ed-9cc4-4a49-b782-fb713a8c7012 CLINVAR:267119 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6ce7933-5a8e-4a77-a745-c24723724108 CLINVAR:267119 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf97cd06-53d8-41ed-af03-04d08b8af029 CLINVAR:267120 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca5a6404-bd62-4da7-ad03-3234f0ae5f76 CLINVAR:267120 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 378ac8b9-6db2-4537-8e4a-cc1022f96ace CLINVAR:38196 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c4fb85c-bc36-40d4-bb64-85d2d3bba90d CLINVAR:38196 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63c5b734-5f90-4c2b-8c22-b9a17322c3f7 CLINVAR:267121 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a569f34a-01d5-46fd-9d67-0a71cf90207b CLINVAR:267121 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92ebe650-92f7-40ec-a7b4-ec6024a3ccb6 CLINVAR:52706 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3a21d46-0b20-42fa-855f-889f9551c984 CLINVAR:52706 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b46d52e0-eb33-4868-8184-0be6eaafc335 CLINVAR:267122 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f2a515e-17ac-4d8d-b45c-827a60e55bdd CLINVAR:267122 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c619d53-77b6-4796-9c59-721fb1b5a782 CLINVAR:52707 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52c6c72a-9ade-4f85-b4d0-26f3fcfece79 CLINVAR:52707 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f716170c-cf38-4e45-be79-f72e20fbbe7e CLINVAR:267123 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9019f8e8-d924-4908-8926-78759fd7e999 CLINVAR:267123 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab174737-3c96-4a79-9970-4dfd78c1ed1b CLINVAR:38197 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4b5c0f2-5830-4367-975e-7d66e5e406e2 CLINVAR:38197 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89feba78-444a-4200-8760-3243190d9eb9 CLINVAR:38198 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a46b907-5a60-4e2c-acde-e401c11d358b CLINVAR:38198 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9f7b390-11ad-40a0-a76b-746719825a04 CLINVAR:142095 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae611f24-aab9-4708-a442-10ff1379c361 CLINVAR:142095 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90524ae4-65ac-46cd-b596-623fa1f512bd CLINVAR:52713 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e62b34f-c01c-4213-910a-8689d579f694 CLINVAR:52713 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae4fb9b9-fe16-43fe-bd2d-f811930ea3e8 CLINVAR:254629 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8765f434-9c08-49eb-a77f-05b1c8fc088c CLINVAR:254629 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab39fb0d-9b7b-4fc3-816a-21f61dbdc083 CLINVAR:267124 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2248715c-f8d5-46ba-8cd1-7aff1e11e208 CLINVAR:267124 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4f0d41c-5885-4acb-b1e4-a18052cbc987 CLINVAR:52714 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d53ea738-4f8f-4fd9-ac64-e401b532ff69 CLINVAR:52714 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36b2fa03-30a6-46e4-b5fa-6c5ffbd69c82 CLINVAR:267125 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 527dbc6c-da59-40fd-a75d-43703002f4af CLINVAR:267125 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3562332a-1000-4c27-a6b4-0ba3928fea74 CLINVAR:126195 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2990c6c1-c2e7-4264-b287-28104bd2abc8 CLINVAR:126195 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57e0f5c3-e6f9-43ec-84ff-25f82f963d37 CLINVAR:52716 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e254856-7af5-442f-9caf-31d7f3edb0e7 CLINVAR:52716 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79ac9b8b-8706-49e9-8d1a-82b25565b8f7 CLINVAR:52718 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31e2778e-89f7-416f-884d-0d2a315badab CLINVAR:52718 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63bf2deb-544e-48fb-97ea-2e0774678021 CLINVAR:52717 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4908c875-24e3-483b-b526-fd21acffe3a2 CLINVAR:52717 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87b52f79-db75-4d80-9a9b-815c746dcc2e CLINVAR:182257 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90dcdb8b-6061-443f-880e-4777d36f3f0c CLINVAR:182257 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79c19c78-169d-435a-a6e0-6e64239e4246 CLINVAR:52720 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7fcfc5c-e84d-4fda-a398-6d2bf584e0b7 CLINVAR:52720 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae03439f-1df5-4c14-9ee7-481e654b9ced CLINVAR:548368 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97beb7db-eb0c-41db-88f5-9011686a2c1d CLINVAR:548368 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb389650-05e6-41f8-a538-f13b17534bdb CLINVAR:267126 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f5b4902-5290-4db6-aaae-e6965a4916b0 CLINVAR:267126 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da3be5a5-31d3-4363-b972-30ee62c4896a CLINVAR:219665 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6d6bb16-2b76-44cb-8c4e-dacaa3033dcb CLINVAR:219665 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d9ad570-6456-41e3-8741-f77a13dfd94b CLINVAR:52721 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1fe3c0d-7712-4364-b507-0ee9e3ba6d57 CLINVAR:52721 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45666d6e-c24b-44ea-9e58-146775768783 CLINVAR:267127 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9491d453-3cc6-4235-a7d4-1ab57745a649 CLINVAR:267127 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8714912d-2157-4761-a73e-e0ea2d4f5603 CLINVAR:52722 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87c8d266-0710-44f5-891e-19b0b15c1396 CLINVAR:52722 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2135d8af-ef4a-46a9-8d26-4bb30dcae5cf CLINVAR:185661 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25eb327d-3522-4a01-acac-72bf72440115 CLINVAR:185661 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e6fb844-f950-41dd-a9ba-9b7ad46849e9 CLINVAR:52724 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 797c17e1-035e-46f7-b3e9-6843c2822c0b CLINVAR:52724 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9845cd93-42a3-4c5f-9070-d0c2498c5748 CLINVAR:52726 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72af6b4f-4057-4e5d-b67e-c34d73bbd7cb CLINVAR:52726 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b820b400-3d9c-41d8-a3f7-6d61dea5f527 CLINVAR:224447 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 230dcd83-5578-4619-807d-533f6ee9d7af CLINVAR:224447 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82009e36-d559-4a83-89e0-5349b1f89498 CLINVAR:234445 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c9aee04-55f9-4465-8a34-2e1c84c3ff16 CLINVAR:234445 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ff068c3-3a0f-443a-866b-dde55ed56369 CLINVAR:433834 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e679227-1d66-4624-8e14-20a763a2eab8 CLINVAR:433834 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c14197e7-1ea4-4ea4-bf8c-fc3cb6a17fcf CLINVAR:52727 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b7f2e2f-292e-4d11-b7a4-aa164edaedc8 CLINVAR:52727 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a742b0a5-876c-471e-89d1-444ef73835e1 CLINVAR:548349 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f57571b0-3444-4639-b673-5671e4645872 CLINVAR:548349 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87549f00-55c5-44cd-a647-299c9728d783 CLINVAR:38202 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 215de7ee-2a84-4575-ae67-fdab7a99226a CLINVAR:38202 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7dbe431b-3c1d-41a6-b263-db36205354e5 CLINVAR:267128 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 348b1e79-e32d-4592-a10b-e4696543508a CLINVAR:267128 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57b7b748-c591-4843-b1a3-297243d74218 CLINVAR:431351 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbf908a3-4459-4672-8fa2-bf280bc3010e CLINVAR:431351 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48ba5288-0276-41e1-b77b-04f7834ecfb9 CLINVAR:52728 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47350d1c-b965-4f88-9cbb-bcfca2d8293a CLINVAR:52728 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d8c24d1-7d0d-4b53-8e0c-59c29dee9aa9 CLINVAR:267129 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6acb5d38-ce52-4c10-8dee-048089bb18ae CLINVAR:267129 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 146c13ad-2ed9-4e27-a312-920ef578a34f CLINVAR:52729 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01399313-6ddc-4411-a455-5fe42a0fa702 CLINVAR:52729 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0915782f-d16b-4b36-a610-baf6ba69b40c CLINVAR:267130 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d4c958e-4cf4-4bcc-85b6-d70a94d1a407 CLINVAR:267130 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be1e1131-caf4-4a7a-8892-83108628133d CLINVAR:267131 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84da2203-2299-400a-9788-967833501ea6 CLINVAR:267131 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff9619d6-032b-4519-acf6-8ff8f11c79a3 CLINVAR:187238 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c9a4691-a50e-47cb-bba4-3524b7c4a2b9 CLINVAR:187238 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3043c855-ef87-4684-91d8-8270ce35f4c9 CLINVAR:38204 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aed6a198-80f8-4232-b1e7-0681255e75a8 CLINVAR:38204 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16da5483-a910-4c5c-8f29-83e20d73c5af CLINVAR:52731 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a288d5d6-c099-431c-84e2-0bfcfb9b7472 CLINVAR:52731 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92005e50-774e-4175-a5b9-1fefee38b9e7 CLINVAR:220532 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67a558fa-8379-41fc-b193-c4d58a5639c1 CLINVAR:220532 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77d21c2d-9038-4d66-a093-064d67b726d6 CLINVAR:267132 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e038433-8185-4fa0-9d7b-93a4736656cb CLINVAR:267132 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d000715-43d7-4cb9-a9a7-cb9502dd6d2d CLINVAR:52733 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af728bfe-6389-45aa-b547-06fb4fca4c61 CLINVAR:52733 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27cf5ab9-6614-417e-b3e6-f88bf3c0d66f CLINVAR:141162 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c087c010-bd79-43ec-ab5a-4c5769c308fc CLINVAR:141162 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eca47d03-0b80-463a-a631-2828ce9199d2 CLINVAR:267134 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9db7f1e0-876f-4f5b-bdd0-65498b58c703 CLINVAR:267134 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fb4e51a-d6fa-473a-b48e-2616d5392f8b CLINVAR:225756 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 495f249d-3ace-4e02-89e2-dc63f09be0f1 CLINVAR:225756 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc8c2bd8-614a-4df4-a190-38beef27f647 CLINVAR:52734 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5524a50d-d527-4ce1-b389-c477c1da9c76 CLINVAR:52734 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f7d779e-6dc3-4873-8d0b-0222e85b0619 CLINVAR:52735 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a01c784b-4880-4038-90a3-6e1271a21fbd CLINVAR:52735 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e65c79c9-4cc5-41b2-be1a-63bd281e55da CLINVAR:267135 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59a2f5a8-c9b2-47fe-bf30-7794d9d57f93 CLINVAR:267135 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3fbbc55-a57b-442c-aa6c-16e99e1db725 CLINVAR:38206 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31ad7094-c4dc-433f-bca4-0ef838e90be7 CLINVAR:38206 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c5a30be-fa21-419e-82f5-b2a8fd1bb316 CLINVAR:91516 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 253ba211-af40-4b8e-9bc4-1e031f7fac1c CLINVAR:91516 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad4d2378-40ce-4de7-aaa9-c07d221b6540 CLINVAR:267136 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 829d4283-7674-4331-94c8-b3942f739822 CLINVAR:267136 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b873fe3e-185c-423e-8c44-9de3e84cb2b2 CLINVAR:52738 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 388f9497-42e8-41f8-8257-0df15f1eda9b CLINVAR:52738 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 992357d4-d334-43df-8718-42cc2672a79c CLINVAR:126198 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b659c08f-6c95-4597-8935-02980dbd7e38 CLINVAR:126198 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e513a83e-f47d-4efb-be3c-71b5bff6acc5 CLINVAR:52739 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e918409-aa06-4d09-819c-69156a70e6dd CLINVAR:52739 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51118e1a-c351-4170-a6df-5170152b3e29 CLINVAR:52741 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3ab4780-8b22-49cb-a01b-c50b093174dd CLINVAR:52741 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf1f7286-e708-4fef-9d50-5791f492cda9 CLINVAR:38207 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6560fbc5-5753-4e48-bcb5-19c2880ee4af CLINVAR:38207 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ab1ebfa-a44d-4d71-9529-f683d1c269ea CLINVAR:267137 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56f58fd1-793f-453f-a22c-6f4392088775 CLINVAR:267137 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91ec7010-f6fc-4efa-9d4b-17735ce6bbed CLINVAR:38208 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71da4f12-7fa7-41c7-a284-b03716a73165 CLINVAR:38208 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0627f655-7505-4752-9453-21c0acde4950 CLINVAR:38209 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b57f7b09-1b7e-48a8-a32d-36ccfe6f1af4 CLINVAR:38209 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c7d184f-d40d-4cb2-a152-ae1e4c51149f CLINVAR:52745 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34c666b4-c8e9-4f53-bac2-3aa5e3fac184 CLINVAR:52745 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d093df7-a514-4bac-a4b9-263aa4c8fd9f CLINVAR:233628 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4adcbef6-3635-4dcd-998b-4f24941f0a3f CLINVAR:233628 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c34f046-cab2-4992-9d5b-3dd26f73f947 CLINVAR:548421 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25fe6ee5-1384-407e-a7b6-16fc536d0312 CLINVAR:548421 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel acf7280f-0701-44ce-a8a9-8465e24cab96 CLINVAR:126200 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ac52073-fd64-4b74-91bc-1a3fa77a6231 CLINVAR:126200 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0acada59-bf41-440e-b0f5-04df6007e3c3 CLINVAR:52748 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1943fc3d-230f-46a1-a2db-ffef2abeb450 CLINVAR:52748 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2a80276-5673-4f2c-9201-65cdb0c04a41 CLINVAR:52747 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c428fa89-9c04-46f6-a38e-064dff0291de CLINVAR:52747 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 69f77074-d5cf-42d2-9e16-4934299e395a CLINVAR:52750 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6eb3f02d-8721-4e95-8ec1-dd11ecb0e0e6 CLINVAR:52750 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a63995b-2559-48c3-8f17-b5531cc65baf CLINVAR:52749 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2cb54202-621e-47f6-8e3a-0565cc4d0751 CLINVAR:52749 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a8e10f6-0f93-49ba-b982-82e2ea970b27 CLINVAR:433835 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9310e6d4-0a03-4061-8e2f-bf77aef428ba CLINVAR:433835 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3120216-4fef-41b9-b2e1-f330761795dc CLINVAR:267138 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7112fe6-2f93-4a2d-b1b3-c5a71dd020b7 CLINVAR:267138 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 982fc820-8633-4ab0-b4f9-7d6f34c06694 CLINVAR:267139 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4d9ad1a-af3d-4a26-9b5c-10b7b1be263b CLINVAR:267139 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0be08a7e-0f0a-4220-8947-4b5c81cb6935 CLINVAR:267140 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2223fa9e-82ec-49e0-9f9e-463726419329 CLINVAR:267140 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33dba48b-f5a2-440c-a958-41ca700ccfe8 CLINVAR:52752 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f87fe45-c4de-4f1c-a1f5-84547c0a0ef8 CLINVAR:52752 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4dc43ef4-f4b4-4915-b449-d8f531d1b883 CLINVAR:38215 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 710ae008-9238-4ae0-826b-ade87c321f18 CLINVAR:38215 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ee43b8d-23c4-4157-a348-571935c9fb95 CLINVAR:52759 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7adce7bd-9c64-49be-8d83-3f27ab4abfe5 CLINVAR:52759 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f480903-9c1c-4a76-a01f-b765d09813cc CLINVAR:91517 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33e3d043-0e3b-4e7f-be8c-f807abce7cf7 CLINVAR:91517 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 198140d4-f811-469f-8349-d4ffb0ecffbc CLINVAR:267141 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b26578b2-113f-475c-8a8c-28344d95de59 CLINVAR:267141 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2fd7d84-c247-4dc0-8a3e-208de98ca79f CLINVAR:267142 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfa5c6ac-d971-45bc-b30a-5bd67fbdfe94 CLINVAR:267142 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06da5277-1b0e-46bc-8cef-ee9427a9df5f CLINVAR:267143 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00e67591-ff51-427e-b0aa-fad5c50674fd CLINVAR:267143 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3424f00e-da13-4046-afbf-ec4c7e6d18c8 CLINVAR:52762 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58dfb152-b824-40af-b7de-7e615368fbed CLINVAR:52762 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f7823fa-62ec-431c-a3e4-a968bc39dd7f CLINVAR:127241 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5a89bb5-d39e-45d0-9a48-4391f421b0a5 CLINVAR:127241 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8dfeff0a-8a20-44dc-8d2b-ed06aa9bedf9 CLINVAR:52763 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee477f1f-57e9-4807-9865-7c6b81559982 CLINVAR:52763 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 392f7aa1-4506-47b7-8db4-30feca1c618b CLINVAR:52764 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1412308b-4c0b-43e1-bfe8-9a685498e6c8 CLINVAR:52764 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a94f9c85-c0ac-4a48-8b5f-8a84912c0418 CLINVAR:52768 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4064bf5-f62c-4dd2-945e-eb46f0c22e04 CLINVAR:52768 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b5779b9-61fe-4b66-89d6-6e7c415a6dc9 CLINVAR:52769 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7dd5a0e-5916-440f-8f35-6a35276f5643 CLINVAR:52769 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e9df139-62a0-42ab-bc23-df4eddce3248 CLINVAR:267144 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c85d4b8f-edbd-4a66-886c-ecfb63444325 CLINVAR:267144 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60740af6-fbda-43c2-8c7a-49046c7f84ef CLINVAR:441349 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea6a34c2-4ecc-486c-8878-8276d8502db2 CLINVAR:441349 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4623c5b-9996-4450-84b7-885f0b5469d7 CLINVAR:142316 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b075af08-99e8-4e60-957d-2a473f1856ac CLINVAR:142316 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cbf7b668-2758-400c-b777-d21733c8752e CLINVAR:548348 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54c7cf06-9a94-43a0-b8a0-3707dcf68a5a CLINVAR:548348 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25b302b6-b9d1-4dd5-abe8-016ac5fe015d CLINVAR:9347 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47ec59cd-2683-4428-9d08-e53d3d5c2f51 CLINVAR:9347 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e52742c-2296-4632-a8ea-a9207cedc429 CLINVAR:52776 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80e7bb3b-8031-4588-b1be-9cf470af588d CLINVAR:52776 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b11aa02-e865-4be4-a4f8-babd6887ff8a CLINVAR:548386 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c6ad2b9-4644-466d-8e6f-e8bb6c141772 CLINVAR:548386 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60a4ff99-c134-44af-8495-3ae7bc8e420b CLINVAR:267146 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00d46889-6680-4064-a44b-5663c90ba465 CLINVAR:267146 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea8f102e-8308-4d69-94ae-1531b1f747af CLINVAR:52781 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c2bbdf3-59a2-4c50-a9c9-414faafe71e4 CLINVAR:52781 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0bfbfbab-5288-4f67-9902-34e002f098f1 CLINVAR:52780 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1683beba-1c97-4c06-b929-d3e9aff005c1 CLINVAR:52780 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d1ec1ee1-942c-4d70-9157-0303f6b4639f CLINVAR:126203 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8e30ddb-ec1f-4b07-8064-4c21eccc28ab CLINVAR:126203 biolink:causes MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e272238-0c21-49fe-9a50-5346c2b5db6c CLINVAR:233724 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad156a65-ba74-4ae4-bfa8-7ee65a5438c8 CLINVAR:233724 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0682b212-e741-4830-89af-3dbf350871c1 CLINVAR:38221 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7b06a40-eec5-4965-8759-35ad0e9dcd7a CLINVAR:38221 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2230ac2e-f3b6-410f-8ecb-9b5224739baf CLINVAR:254630 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1050ffe-7047-4309-8374-1a49bb2686f5 CLINVAR:254630 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04df7147-4d8d-46db-bf5a-cfd58b611c90 CLINVAR:38225 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3c6d929-b7f5-4341-a752-784cb4c70af3 CLINVAR:38225 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4f6910d-0c99-44c1-83d4-367e88d94e5a CLINVAR:52785 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e76168fe-5cd1-42a8-866b-352d696568db CLINVAR:52785 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel afd952e1-a36f-44a9-889f-520c708666a9 CLINVAR:52783 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b41cd4b9-0edf-43fc-b279-0abce5d6a50c CLINVAR:52783 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e3c2b3b-3893-4b9b-bd03-f22cd43160ce CLINVAR:91519 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f577530-59fb-4f84-9f9f-148bc5582bed CLINVAR:91519 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa01d19e-7228-4c05-9f95-6431afa8d8ad CLINVAR:267147 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79873377-f50c-40e0-8d94-0fb1094d0b31 CLINVAR:267147 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 211200d9-655c-4c99-a727-6c73a9a29002 CLINVAR:52788 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0cba2f66-3e1b-4381-b46b-91ac077b6a5e CLINVAR:52788 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99666519-6a19-4788-b27e-76fa763d8e72 CLINVAR:52795 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c8162e1-ea85-4aea-8690-fd656b8e547c CLINVAR:52795 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1abe520-79cd-42c8-aaa8-e0c141d6e61c CLINVAR:187585 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b2dee8d-8cfc-4c9e-8534-b4f842863798 CLINVAR:187585 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6839aa27-8e40-41d6-9d3c-64ca878ebb5a CLINVAR:52797 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d8a3e90-bace-4558-ad20-fe8af67a17b7 CLINVAR:52797 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21db3dfb-940d-40e2-b265-92b1af50af28 CLINVAR:236929 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7cbccef-7805-48fe-a827-b857efc9e274 CLINVAR:236929 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57d827e9-8dc3-4ef1-b09c-1136e7bf1d03 CLINVAR:38226 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a22650c5-b7eb-43a2-9bc4-d9f5ac7af2c4 CLINVAR:38226 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0d15516-e9c9-47e9-bbe2-9b7982f3f490 CLINVAR:52801 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2528e5a9-280f-4e4b-9349-16868acfbcbf CLINVAR:52801 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7921070b-e533-4338-b336-31cd2afa608f CLINVAR:52802 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f71a3c63-96bf-4746-bca1-05852ba7ab82 CLINVAR:52802 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ebaef818-7c8a-42cd-97f9-974dbb141df8 CLINVAR:230575 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5bf2de90-1ce1-4bda-a591-9b6e174a0e4a CLINVAR:230575 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0fea5703-32e4-4439-838a-858889c1263f CLINVAR:52803 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6441d75b-d39d-45df-aeeb-8589871ce8dd CLINVAR:52803 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b657a06-79b2-449e-9b27-73b9b42cd3c0 CLINVAR:267148 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf161d04-1a18-4c2b-b45f-3a4673f8b4d7 CLINVAR:267148 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f6e8858-8b8e-4794-a5c0-1336e3410fae CLINVAR:188440 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96717b0b-93f2-4413-b075-c11946ce46ab CLINVAR:188440 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b909bc6b-bf8a-410f-9f10-e4c10ea3a5e0 CLINVAR:254631 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edfce99b-9a9a-4237-aece-893647af1bc9 CLINVAR:254631 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8b79598-24d0-4f7f-88ca-9a80df0dc5ed CLINVAR:52806 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3b6eefe-2617-4cf7-b77c-9e8b17b68c7d CLINVAR:52806 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62efd34a-c82c-4f8e-8202-3e9d53d3d552 CLINVAR:254632 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8af3ae64-143d-433b-a0c5-5e29b5f9e177 CLINVAR:254632 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b879ffd-4579-4161-94e4-d874d701cc6b CLINVAR:267150 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ea70136-ff4d-459f-9093-ad542c90cdfc CLINVAR:267150 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel adfd1293-d5c2-494a-9551-c0c1269f7127 CLINVAR:52807 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88319aa2-bb1f-4ecf-af35-e36a0b4050fe CLINVAR:52807 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1439ad5f-5872-48e3-a2a4-01a4b39b1fa4 CLINVAR:38228 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar effc4633-7aa0-42e2-88cc-b9476c0af8f9 CLINVAR:38228 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b39d062-879f-4b58-a3f8-48cbfab1baeb CLINVAR:38229 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd94737b-d527-4598-84cb-f4f3bd2734e0 CLINVAR:38229 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c42ef9a2-af15-4f0a-8e79-ef6da86d8243 CLINVAR:216263 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e33581a-fde7-4322-b7a5-1dc96542f043 CLINVAR:216263 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3718bec8-39ff-4f1f-b9d2-ca556f56500f CLINVAR:418091 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d653d05-9f3a-4163-8294-33906744fbac CLINVAR:418091 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a449b4e6-6111-4a14-8682-4f05b42bb7ad CLINVAR:267151 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b448ff20-4594-476a-ba2e-6466a40e63db CLINVAR:267151 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 108aefc8-06cd-4f2a-95fc-2d6b92d7a764 CLINVAR:52813 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6725e788-7626-4038-9dea-5341f0393411 CLINVAR:52813 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 784d3b19-b61f-4ab1-8266-702331869cca CLINVAR:548394 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a31bee39-d009-49fa-89a6-036fda565892 CLINVAR:548394 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0fbeabd-12a9-4762-9b7a-efb79438d16c CLINVAR:52814 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f6cde3b-95b3-49bf-8045-8a02af8b78ee CLINVAR:52814 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d4d3657-5fab-4e67-8cdb-ad4a17b70b06 CLINVAR:224448 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2d48d83-0508-42ef-8893-4922792a68b8 CLINVAR:224448 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4bf7e9d-d5cb-42c2-9216-c1c8d6805bb3 CLINVAR:548356 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 227c7544-a939-4495-9423-697e03db565d CLINVAR:548356 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7cf8cb7-727d-48e2-a27e-d4091928708e CLINVAR:422546 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31c04797-4fa9-4667-8d90-ae3b7dbfe0e6 CLINVAR:422546 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c653cf98-6ae8-42b6-8511-1a86b2ea23b9 CLINVAR:52816 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4d22078-8557-4ea6-8f12-63cbc3de4e20 CLINVAR:52816 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7bb7236b-b9dd-4315-a13c-373402e2dbaf CLINVAR:267152 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8eb6bae-451c-4c24-99f8-d77a5ac4f3bc CLINVAR:267152 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96cd2186-e5c4-41f6-a7f2-4712ac2c1c3b CLINVAR:548422 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92bcba95-15c0-4701-9f42-b071a02e365c CLINVAR:548422 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0973cbc6-828d-4e4c-8b71-54d0d239f691 CLINVAR:267153 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c09a0a29-cb70-4032-802a-5a930b177189 CLINVAR:267153 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02382e3b-d9b9-433c-9ed9-b97e90699566 CLINVAR:186912 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79217f49-10f9-4369-90d1-747fbc93d48a CLINVAR:186912 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 740317de-5f8c-4aae-a2a7-9c83e5ad3a00 CLINVAR:267154 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92b7e541-a658-423f-b0ba-c97abe41dd39 CLINVAR:267154 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0945ffa2-fd97-49a1-bdd5-d697a6716df1 CLINVAR:267155 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c24c3340-9ecc-4c6f-9acf-d02eb6a0c125 CLINVAR:267155 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4faa3527-10e1-43e2-a9f6-233dc5d6c5e2 CLINVAR:267156 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 625c2b0a-bc1d-4c28-83b1-fe8f6f909981 CLINVAR:267156 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 218a4c8d-7429-4531-bfb6-623255fbf1d5 CLINVAR:267157 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 723f81e1-2f17-4e7f-9f4a-bc43fa45f3fa CLINVAR:267157 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88410ee9-7c59-43ce-b823-0eec7ba786ef CLINVAR:232966 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a2c0cc9-c5cc-4b3c-aa69-20ff6f43811c CLINVAR:232966 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7f41088-22f1-414c-9619-0158a2871b42 CLINVAR:52819 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b399aa4a-2e20-45d1-9da3-d5349a49cb7a CLINVAR:52819 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 670465e9-8078-4229-8b3d-85dbd513d032 CLINVAR:52820 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aad89093-b88a-4a13-a9d4-af1c911f32b4 CLINVAR:52820 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b81bbb0-a7fb-415b-84dd-cb1c6adb284a CLINVAR:52821 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a927bc5-be92-44fd-a333-d6541afcc8eb CLINVAR:52821 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6aeb5b30-2b33-4da5-83fb-59177d062abc CLINVAR:439019 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2b4d933-ea66-47b3-98fa-af05d5a57abf CLINVAR:439019 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 76da5dc8-e77e-45d5-993d-f9fa9a152bce CLINVAR:254633 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fd767fc-54d6-49ff-9c4b-f3121ef6296d CLINVAR:254633 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ee25d9b-766d-4404-9499-4e41a78a0322 CLINVAR:38233 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ce2be76-8d3d-432b-9ce2-bc831510df11 CLINVAR:38233 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a9f2a88-529b-4fbc-8688-ca0224e3dbf0 CLINVAR:52823 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00370e1a-e481-4844-989b-21e223b7456a CLINVAR:52823 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel be8a4bb9-be0a-4ea8-ab32-0d102fc7af0b CLINVAR:91523 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 143f0e97-2dca-4727-a000-1d78b3b36042 CLINVAR:91523 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af34ad43-652d-4a00-a1ea-ca3fb7710a5f CLINVAR:52825 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97a241b5-ea69-4702-aa8b-f687248536e7 CLINVAR:52825 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50a99562-17b5-49c4-bab1-6f966bf5989c CLINVAR:267158 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94895341-ebb1-424b-be49-a209034cfec8 CLINVAR:267158 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90e32d05-3358-466d-880d-6c543981538c CLINVAR:38235 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5fcac68-121e-41f5-b154-b96195ea54e6 CLINVAR:38235 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aaead3ba-ab7f-4598-95f2-cd1685cc3a01 CLINVAR:234828 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a936e06-f70e-4680-a10e-754f3379206a CLINVAR:234828 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3a46172-1413-4e90-a1d3-dbe4ea3390ee CLINVAR:548426 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6745c00-8448-4370-9654-564736f337e1 CLINVAR:548426 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09359e3a-b6d6-4381-977d-984b35bb836f CLINVAR:52826 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4479531f-73d5-4b21-9328-ac0d648e177d CLINVAR:52826 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e261653-5221-4a17-8a6e-8cee85ec8711 CLINVAR:126210 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d51ce4c-e2f9-418c-b300-571060d47c0a CLINVAR:126210 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3c205b3-31a5-4910-a800-c473b34485d4 CLINVAR:548360 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9beb891-05aa-4a96-acde-fa2e16eb66b1 CLINVAR:548360 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a3d2c96-1d4b-40a1-a256-ecfab3ae80fe CLINVAR:52828 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a502cfe2-588c-44cb-b1f9-a0f03e308682 CLINVAR:52828 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fbc86e5-c771-4cca-8565-25a1554cfd6b CLINVAR:38239 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 810a6154-5bfd-4898-82f9-842005c59d65 CLINVAR:38239 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4464cf2-c5da-4c24-9d05-45b87f088515 CLINVAR:52831 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7801064e-c069-4931-b28b-dd71cc61a19d CLINVAR:52831 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15c48b67-894c-42d1-807e-2f7b29ef0bf6 CLINVAR:231532 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a898650e-f00b-4141-8b7e-b7a114133ff6 CLINVAR:231532 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 176a7821-9905-4dc7-a7e8-34753b996798 CLINVAR:52832 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edd30d91-f0ee-43bf-996f-dd1158d7e438 CLINVAR:52832 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1793115-c3b9-426b-ac0d-99d5fd71a78f CLINVAR:231901 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2570584d-0054-4169-a9bc-dfa0e5cf0af1 CLINVAR:231901 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25b338ea-cdac-4473-957a-d3cb5d14a853 CLINVAR:267159 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56e07f91-7d46-48a3-9393-6e3ec0d72f53 CLINVAR:267159 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b26699e-53b8-4096-877d-3b63cc8a43c5 CLINVAR:267160 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0b7675c-f01a-4039-9a75-59c255606c63 CLINVAR:267160 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d1b3184-2bf2-4168-b4fd-cb1b20aea638 CLINVAR:267161 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c000548-ff3b-40ce-9f21-d0da2075cb17 CLINVAR:267161 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89270dc5-5ad2-4d19-8736-ce83a40a4f67 CLINVAR:52836 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99de1f60-d86c-47cb-8ddb-c770e17b188e CLINVAR:52836 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fbbdc17-938a-4b79-9d48-a68f1cbc84a0 CLINVAR:254634 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e75f07ba-1b02-4ba4-821b-7a104eb00f1f CLINVAR:254634 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ab72a15-054c-4e9d-97b2-855323bccfa9 CLINVAR:52837 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7395162c-f541-4b71-800d-6594bd28cabf CLINVAR:52837 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9500a485-67a3-4a2a-bb4a-d5d80283a9ac CLINVAR:38240 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 838b366f-bce6-4b15-8c84-8dd1d628239d CLINVAR:38240 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 80416acb-86ff-4096-8cc7-deef42c1cb2c CLINVAR:267162 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1ab2fd4-cad0-4da4-9d72-cbd6e9190155 CLINVAR:267162 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad481914-7a9a-4f0a-8997-7b4e66a3fb56 CLINVAR:267163 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99cc4d9f-46d9-437c-ad04-77010ebad81d CLINVAR:267163 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e57e386d-bb1e-4c15-9494-e68e51f94768 CLINVAR:126213 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f83384b7-e109-47bd-b8c1-f3b488d5f4df CLINVAR:126213 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28c4d77d-5252-421a-87c1-0d7ee50b510b CLINVAR:52840 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea4ec62d-b4c7-497d-b3be-04bebbff7a27 CLINVAR:52840 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9db98a06-99c3-45ab-8ccd-ba1f8c0dfac9 CLINVAR:52842 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5bc20ba4-6666-42c0-a17f-66ae1724402b CLINVAR:52842 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f156888-4deb-440a-a60e-eb7a9138bd80 CLINVAR:52843 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25855603-d552-4acd-93aa-833490f9aaa6 CLINVAR:52843 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b873887-2cc9-4573-afb7-4150d6f6f40d CLINVAR:52845 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7d8d34a-67db-4616-982f-9ae015235e71 CLINVAR:52845 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8bd6b7e2-7faa-4b9a-b855-92c9a625858e CLINVAR:52844 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c573ddef-0a1d-483d-89cd-82ca2f122881 CLINVAR:52844 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6839cca5-1eaf-40d8-999c-745744406b06 CLINVAR:548365 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6a34703-e740-42aa-ba87-c05905f2d997 CLINVAR:548365 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 028fe436-183f-4a64-b8e3-5afe5cca3fb6 CLINVAR:52846 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb56da5f-81c5-4b8c-84fa-13570cbea3e5 CLINVAR:52846 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25b49e94-68a1-437a-a180-744cec561e46 CLINVAR:52848 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eacb2ddf-ce9a-4508-bbd6-75e454163ac9 CLINVAR:52848 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 596c1e60-13f9-4416-96c4-49fdec93dbfd CLINVAR:52850 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 650878b1-daa3-4e8f-b05c-4432da9318f1 CLINVAR:52850 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8de8a0a0-443a-451a-ab7a-509dd7e78644 CLINVAR:52849 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e25bb43b-fc0e-41e2-867f-970cffda583a CLINVAR:52849 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12292afb-e4c5-49ba-b393-7b2a44f3aa0a CLINVAR:52860 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b1f4b78-3941-499c-9a39-c51bacfca61f CLINVAR:52860 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82612c9b-fed8-4aac-9b55-c75210aff465 CLINVAR:52862 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 999c87ce-4b73-4c5f-a5fe-b892a1874082 CLINVAR:52862 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ae61325-47d0-4856-a9f6-3a38c0eca806 CLINVAR:548388 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0cf48641-ccf9-478e-b2b2-c137db1d8103 CLINVAR:548388 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2f766b9-a286-4638-8ede-f521beea4e14 CLINVAR:38246 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a4e1167-ff03-4f31-9115-7b6a060dc495 CLINVAR:38246 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d47829b-8ba7-434f-86d9-d70067d09637 CLINVAR:52864 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 863a1c1f-6e98-45ae-a0f3-e6bc96a2dbfa CLINVAR:52864 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 191310eb-303c-40f6-b554-4d24414596c2 CLINVAR:267165 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf65d337-19e1-4ecf-8eca-ddea6fb08432 CLINVAR:267165 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9864220-62cc-4856-84a0-4fc45c359069 CLINVAR:52866 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe3f30fc-5349-46b8-b1be-7d34654f519f CLINVAR:52866 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d91d0f97-6024-4d99-9645-859b52133a14 CLINVAR:267166 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a76d99c1-4cab-4650-916f-70a177b8d9ce CLINVAR:267166 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 203b1590-8b0b-4dab-9571-aad9ff161277 CLINVAR:52871 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25424dda-238b-48d4-9d38-a167327b6c80 CLINVAR:52871 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdee66bc-bb2f-4ce1-abb5-321c87bcf2c2 CLINVAR:91529 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56c69a42-bc7b-4b0a-a69d-b661923d475c CLINVAR:91529 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbb00cc6-a06b-4506-84d3-0650c87206dc CLINVAR:38249 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89c8fde1-f1e9-4d46-a309-ea58e876e42b CLINVAR:38249 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2191dd72-dbf7-4f68-b597-0ae387301c8c CLINVAR:234902 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 159a7781-c113-4ba8-8753-191dfbf8ab01 CLINVAR:234902 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd1a6c9c-7ba5-4e20-aa59-3f5af11ac1a8 CLINVAR:38253 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08d1b228-9109-41d2-bd79-64750a132fd3 CLINVAR:38253 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fafd4ef7-7a17-414e-9a1b-c126195b09a0 CLINVAR:421372 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c17306f-d7e0-41a7-a571-648b4e487970 CLINVAR:421372 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a95cf874-5449-4815-905c-656d35edc5c8 CLINVAR:52888 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bbdecdc-6b78-48d4-988d-607500be5012 CLINVAR:52888 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e4428ef-24aa-4e02-8c9d-d3d6a4881b82 CLINVAR:126217 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c785e0e3-f6a6-40a4-8cde-9ef49ce016bb CLINVAR:126217 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86433c57-e64a-43f5-a6d5-a83de09a01f5 CLINVAR:254635 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7312f36-b233-43ba-bbdf-06a4aa1439e9 CLINVAR:254635 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87d2403b-c94b-4671-bd5b-d8c1cc93f684 CLINVAR:52889 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21df7d4b-4abb-43a7-b272-698d28e1fd78 CLINVAR:52889 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4dcfeab4-7eb8-41e9-bc2d-b8e1276ecb96 CLINVAR:91530 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5de1d2b-3fab-422e-a690-d7a48001ad41 CLINVAR:91530 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93c2cebc-b91f-4508-a259-361d6b1cc0ae CLINVAR:254636 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 848cbe18-1dac-4f1d-97e7-836d4062f79a CLINVAR:254636 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc3b33cf-3a0d-4fd7-b30b-cf5547a74206 CLINVAR:38260 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f5de503-fb1f-46aa-8331-08962c031c7e CLINVAR:38260 biolink:associated_with_increased_likelihood_of MONDO:0700269 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0a675e5a-85ae-4739-88b6-8a577c897547 CLINVAR:548323 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a8289f1-1330-47cd-a67e-5fbde32ca8e8 CLINVAR:548323 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf47995a-b3e8-4ea2-8929-a0f47c177721 CLINVAR:548362 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a71cbd9-4094-436f-815a-db7c636914f3 CLINVAR:548362 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7204ca8-1c8e-4f0f-8155-b1a2bcf6e602 CLINVAR:182325 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb492a01-301d-439d-acdd-42ad7b133c7f CLINVAR:182325 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 002bab2f-8ebf-41d9-b0ba-2e5708589571 CLINVAR:267170 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a838d192-ff38-4d15-ba08-195c81a82ead CLINVAR:267170 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c96dac4b-3a4f-48df-83c0-034746e0b4f9 CLINVAR:267171 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b36fd80-1b31-41ca-95be-b4b49312f770 CLINVAR:267171 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52356a1e-2b0a-4ed7-854c-be2d93803aae CLINVAR:224449 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 823543a5-f524-4cb3-af12-6c014c9ed322 CLINVAR:224449 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c094eef1-da94-4983-8d53-1628502e0af3 CLINVAR:141469 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48504a9a-1017-4e52-aeab-2b197e740eab CLINVAR:141469 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7b5a422-4f64-4b74-a884-0a37270a7501 CLINVAR:267172 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 401e2591-c97f-4779-8328-9455fd208bef CLINVAR:267172 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c28d09f8-25b7-4b20-9e3e-7bcd05059f69 CLINVAR:91534 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77bbd483-5371-4f00-ab77-80c3b310149c CLINVAR:91534 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8b3b383-1b65-4004-b39a-765669ac8eb9 CLINVAR:91535 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fd48b32-d422-4885-9e18-a795fc36498e CLINVAR:91535 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6acf9de7-22bf-43e9-960f-543be49e55fa CLINVAR:267174 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0956d635-a815-4d64-ae28-5f6d2accdf0a CLINVAR:267174 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39aa5b18-db45-452a-b467-ce52ee561d58 CLINVAR:267175 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 494cedd3-c2d5-4c11-9c16-19963a3040f7 CLINVAR:267175 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37b82728-b524-458f-8e22-711e0a062740 CLINVAR:52909 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52a2d3fb-d391-4c13-8b44-02d5b896c164 CLINVAR:52909 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e230ac8f-21b0-48c4-b9d3-a896c5744362 CLINVAR:267176 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb41c2d1-a51e-4386-abbf-29ea0e6e6b1a CLINVAR:267176 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b878cce-099d-4bd3-b98c-595a290672a4 CLINVAR:52911 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f96d0dad-69eb-45b6-8394-8ab7748a8665 CLINVAR:52911 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6471fb2-8f78-45c2-8418-51b45f8235e1 CLINVAR:182326 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e842f29-29bb-4bc8-b8e1-74095fb9e0e1 CLINVAR:182326 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b6f4555-c63b-40f1-bc21-8b68f8517a6b CLINVAR:267177 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b94c1828-0d43-4d10-8077-40c82616c748 CLINVAR:267177 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc9aa135-2e37-4f13-8ab2-9f25420c2079 CLINVAR:52916 biolink:is_sequence_variant_of NCBIGene:675 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd0cac8e-edf7-4686-9646-507a3bad3f26 CLINVAR:52916 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ad8edc6-f284-4de3-9dca-c89843cfaa72 CLINVAR:43088 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f6cb6c6-58b2-4261-897a-942b6193c2b0 CLINVAR:43088 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6e74284a-b7c2-4a74-b9e4-fa0e401f0550 CLINVAR:43088 biolink:contributes_to HP:0001644 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 4f09b51a-ba69-4330-9981-f324763a24ce CLINVAR:43088 biolink:contributes_to HP:0001725 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar b6a65999-dba4-4f75-bc1b-ceadf7648570 CLINVAR:43088 biolink:contributes_to HP:0005159 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 60b54bc1-a888-465d-b89e-231429366461 CLINVAR:43088 biolink:contributes_to HP:0200130 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 209de59f-1920-40e7-8736-6bda9d8a7aa2 CLINVAR:43069 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87cd6267-5d91-4659-8af9-7210398d397c CLINVAR:43069 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f13ec05e-0dd8-4181-ad78-3fbcbbfe2fed CLINVAR:43069 biolink:contributes_to HP:0001644 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 8c5e52bf-43ce-42f9-9158-ac13402c324b CLINVAR:43069 biolink:contributes_to HP:0001725 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 03c03a71-7912-454a-95f5-5f209d792997 CLINVAR:43069 biolink:contributes_to HP:0005159 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 25a1281b-d436-4559-b3ef-12457c3d3c81 CLINVAR:43069 biolink:contributes_to HP:0200130 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar e43199ea-bff1-4060-9656-027e19aeabcb CLINVAR:36642 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5f1dac2-fdd1-4609-9e8e-8786692c1d9c CLINVAR:36642 biolink:is_sequence_variant_of NCBIGene:104564225 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b75ee0fa-73a0-4eed-8f59-a6c7e38c2ce5 CLINVAR:36642 biolink:is_sequence_variant_of NCBIGene:126861897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60902518-fd90-498a-bfa7-74c66790e9b5 CLINVAR:36642 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ac288c3-dc49-42a5-bb86-66ec1529ee13 CLINVAR:36642 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar bf9fbab8-5bb0-4586-862b-36ca1d058096 CLINVAR:14118 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6158095-23ec-4495-92ec-2580bfbdb745 CLINVAR:14118 biolink:is_sequence_variant_of NCBIGene:104564225 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ba73e53-9305-4586-8544-a5034b99032a CLINVAR:14118 biolink:is_sequence_variant_of NCBIGene:126861897 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01e6b661-d38c-4fcf-bfc7-e2c362065beb CLINVAR:14118 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e6676c00-097e-4640-a989-dc57d27ca9ee CLINVAR:14118 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 74968a07-1686-4728-bcfa-b3e20dcd67d0 CLINVAR:43003 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25491827-0e5c-4e74-a074-e0538549a41d CLINVAR:43003 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1991e9c5-34c4-438d-bfd1-f767cb08a305 CLINVAR:43003 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 8ae96d4b-faef-4ae8-89e9-950ec380e714 CLINVAR:42992 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f78148c7-4c09-41b4-b85a-4ee77060a61e CLINVAR:42992 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0cc9b038-e135-48db-8f77-efaa10868a4b CLINVAR:42992 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar c9f5211e-4417-4886-b30d-019b8f868afb CLINVAR:164294 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7bf879d6-829c-49f4-8bf2-069325173868 CLINVAR:164294 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62fef3b8-780a-4b38-9e4b-2884e60c0aa2 CLINVAR:164294 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar eef7cb9a-1c4f-44d6-a363-a44fa6d2cb4d CLINVAR:42965 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c24d43eb-2535-4ef2-a5a1-b4224397f618 CLINVAR:42965 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 66a1419e-054d-489d-8645-73dd5249ce7a CLINVAR:42965 biolink:contributes_to HP:0001644 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 353fa30b-bf85-46f6-81f9-10662ed789bf CLINVAR:42965 biolink:contributes_to HP:0001725 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar b6fe6e13-c1d4-420c-b2b7-65cb22bfe9ad CLINVAR:42965 biolink:contributes_to HP:0005159 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar ed190388-7d40-4f82-b728-33ef81c60534 CLINVAR:42965 biolink:contributes_to HP:0200130 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 85bab5c9-41bf-4e67-8799-f8fde5808752 CLINVAR:42950 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85e4589c-bea1-4d61-9faf-e5d8ec00e67b CLINVAR:42950 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2f9b7226-7193-4f0c-852f-514e9e801132 CLINVAR:42950 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar ad62eb91-2bbe-4885-a775-c5d49a270871 CLINVAR:155814 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df7f0939-9308-4cd7-b886-59142cb8304d CLINVAR:155814 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07fb446a-1576-412e-beba-d57e09cba7f1 CLINVAR:155814 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 216d1216-009f-4016-bf7c-708b6a678fb2 CLINVAR:42948 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb3bd26b-8d7c-4ad4-afcb-dc9f088712aa CLINVAR:42948 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2e83144b-c717-48a6-9253-228cc5a453e2 CLINVAR:42948 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 464de2d4-6d71-4ae5-8ce5-2ac01e1acb69 CLINVAR:14093 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 779b5c89-e895-410d-856a-1265fbc356b1 CLINVAR:14093 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 49a0cf46-02b6-4916-95ad-84df84177ec3 CLINVAR:14093 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar e702ed71-0634-4f3f-9c22-ef0f38e4c70b CLINVAR:42934 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0f0a84d-32a9-40b0-80bb-3cc5c52f58cd CLINVAR:42934 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4f1dcba3-172f-410f-908c-94f46e319016 CLINVAR:42934 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar dc78cc7d-d8cc-4837-84be-25db82ebe19b CLINVAR:14097 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9ba7b31-2717-4886-9a2f-70fd4bdeb4b2 CLINVAR:14097 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41b03921-17ba-4d3d-a8e6-7b43d138b9d4 CLINVAR:14097 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 6b7a2d10-1ea0-411a-9f5c-3c6462fbc75e CLINVAR:14125 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b21ea09-8c54-48cb-a791-6b59e5d53a0c CLINVAR:14125 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32ea8e47-a82c-470e-8b94-35bf82713dbc CLINVAR:14125 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 93e67cba-60c2-47ba-b7e2-8aa1e7c65aa5 CLINVAR:42926 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f0cdacf-d143-4317-ada5-a93b987b3779 CLINVAR:42926 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9a50a96-eb77-4e46-953c-73cef22f40f0 CLINVAR:42926 biolink:contributes_to HP:0001644 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar ef45cfe7-4e71-4bbc-83cb-09b0bf8ad4f5 CLINVAR:42926 biolink:contributes_to HP:0001725 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 9a559829-be8a-46f3-9456-79e86f227ddd CLINVAR:42926 biolink:contributes_to HP:0005159 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 26f44f1f-4426-4ca6-9b39-a6b094b6aa5f CLINVAR:42926 biolink:contributes_to HP:0200130 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar cc153649-536b-488b-bb84-61cd8bfebea8 CLINVAR:164316 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34be80f6-af2b-4233-8229-e6d810560e77 CLINVAR:164316 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0d0c405-88ca-4f11-baec-6c357970e4bc CLINVAR:164316 biolink:contributes_to HP:0001644 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 9c5fec5d-c10b-42d4-ace1-9e9a97b5bf8b CLINVAR:164316 biolink:contributes_to HP:0001725 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 4451b4d9-6a62-44a0-8a92-af90090b4a66 CLINVAR:164316 biolink:contributes_to HP:0005159 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar b5bbc4bd-7d14-49ed-a8cd-3f1e0eefe551 CLINVAR:164316 biolink:contributes_to HP:0200130 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar c42cede8-7989-4c01-905f-96184d84df84 CLINVAR:42922 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b241ef6-2b6e-4067-a5a8-20e2f1b98bc7 CLINVAR:42922 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e2d21fd-dddd-4377-9169-3c0b2670d795 CLINVAR:42922 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 3619dc44-70d8-4da4-a6c4-4c4f8e51bd28 CLINVAR:14120 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4112879-7d40-494e-9e30-325509534809 CLINVAR:14120 biolink:is_sequence_variant_of NCBIGene:126861898 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8bee20ad-e176-4ade-94fb-eb3dec8f5c34 CLINVAR:14120 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62aad0ea-0d79-4c77-a72f-0964d416ef9a CLINVAR:14120 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar cf63d278-2530-47fc-9db0-158b119be8e5 CLINVAR:161326 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34ef278c-d889-4a3c-a9f2-cba19e9bac4e CLINVAR:161326 biolink:is_sequence_variant_of NCBIGene:126861898 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5d40d5c-1fe2-4102-a4a5-d0db458d673f CLINVAR:161326 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6f336406-7dc9-4042-923d-c06b72a735ce CLINVAR:161326 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 2025d692-3b15-482c-8557-174c01744eea CLINVAR:177667 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15a4c42c-6cfd-4fcd-9d79-4d10b4433827 CLINVAR:177667 biolink:is_sequence_variant_of NCBIGene:126861898 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce0cbf72-2872-424b-892f-2dd8176086a6 CLINVAR:177667 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 69dfc4dc-de81-4312-8786-400f1ef17569 CLINVAR:177667 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 91a6890e-1ffd-49df-9979-46b07620fdf9 CLINVAR:177847 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 758a8347-51db-4c7a-a19d-2084d9d9b325 CLINVAR:177847 biolink:is_sequence_variant_of NCBIGene:126861898 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06177fe9-6564-4cc2-895b-46eda4a57a8c CLINVAR:177847 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3df8ba4c-593a-44bd-813e-172a779723e8 CLINVAR:177847 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 4de07a0c-8a54-4ce3-92f0-a388750732bf CLINVAR:181195 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f5a677b-4ef5-490a-9cdf-95d07a403bb5 CLINVAR:181195 biolink:is_sequence_variant_of NCBIGene:126861898 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c569f6bc-4f8e-48fe-b320-bda2655db874 CLINVAR:181195 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9a644230-6a6d-4e97-abfd-6fdfab4fc413 CLINVAR:181195 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 9e3c257e-5bde-42e4-b1be-575c724fa3cf CLINVAR:42913 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b068af34-bd66-4ecd-b360-2f804deb3be5 CLINVAR:42913 biolink:is_sequence_variant_of NCBIGene:126861898 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17387c87-7a9d-4c24-840e-c90cbc352de7 CLINVAR:42913 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8aae8e87-e066-4764-ba79-b156b67064f6 CLINVAR:42913 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar f74c61d8-dd62-4163-81ef-ebd45c7a2933 CLINVAR:177757 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4cd277f-d30b-4044-b6dd-ef2b3a9a2f2e CLINVAR:177757 biolink:is_sequence_variant_of NCBIGene:126861898 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99de6343-26fb-42d5-aa13-9368b0769409 CLINVAR:177757 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b6daceb9-fd5d-4f39-a519-2c40aa31ddc0 CLINVAR:177757 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 66bc2836-6b24-4ae7-8339-80acdd04a02d CLINVAR:42910 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f78352a-56e0-42e1-b783-89b4b5662d12 CLINVAR:42910 biolink:is_sequence_variant_of NCBIGene:126861898 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1349f8b-a52f-4834-a469-1b32f90becad CLINVAR:42910 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6c352b4-7af4-417e-ad59-6cfead5beddb CLINVAR:42910 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar db7dc0fd-87ef-4c53-8646-3b1b33a36a2e CLINVAR:177665 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77712b01-4781-4306-aec0-60393e29905b CLINVAR:177665 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18dcb597-d8dc-41de-b3d9-9dbb67bdd7b7 CLINVAR:177665 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 9abf0ea8-71ac-4617-8738-39e309046d7d CLINVAR:14098 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dceb034e-fb1c-4d8e-8032-f5433fdd28db CLINVAR:14098 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ced66b74-42eb-44b2-9f8c-be762ad29a47 CLINVAR:14098 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar eb9720ba-8c55-45d0-a40f-0da51339840e CLINVAR:164342 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0df70c5b-7529-4aa1-ad8f-973c063f964a CLINVAR:164342 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3496edb7-25b0-40a7-b4c2-f49606896ba1 CLINVAR:164342 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 504fe1f6-c3be-4d01-b761-813c92a67056 CLINVAR:14095 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c671ded0-564c-4c70-a872-c0c2f294943a CLINVAR:14095 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b01d6f90-2cf8-4616-b017-2cc0e8d40cef CLINVAR:14095 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 7ac79cf2-bb6a-449f-9974-fed6ddd87e1e CLINVAR:42885 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ed88258-a75a-4696-ac6a-e5b05046ac0f CLINVAR:42885 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74e7826a-8378-4810-a274-eb630370258f CLINVAR:42885 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a06f4ea6-aea6-4248-a014-960e4143f9de CLINVAR:14107 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 426fcdcc-6b7c-4ad5-952b-08690f4373e3 CLINVAR:14107 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c8647ea8-4544-4f53-8d42-515f7e3a5d3e CLINVAR:14107 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a7c71c30-356a-4b0d-8f91-cd2754c95091 CLINVAR:14104 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f41def0-fee5-4d69-ac73-23303a4140e1 CLINVAR:14104 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e589c679-c97d-4acf-bc86-935bcb79e711 CLINVAR:14104 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 69267c6e-8c6e-4b90-92c8-87db7f17efd4 CLINVAR:14105 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6886eeb3-427d-427e-90de-c37e33d3455a CLINVAR:14105 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel abd8c6e1-4d36-4efc-88a0-a68fa80bd213 CLINVAR:14105 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar c2965936-961c-4b71-9759-db6a70c51124 CLINVAR:177734 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de980199-9cd1-493a-abae-04d363ed4b3d CLINVAR:177734 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d36060fd-e4e3-410a-95b2-6d3cee69b49f CLINVAR:177734 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 82fd0aba-0991-4827-8183-21599b74c9d0 CLINVAR:42875 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dfe844a-0cb6-4ce7-854c-f73ed4a5adcd CLINVAR:42875 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ae81521-4707-40e0-adc6-216d2bdc0d75 CLINVAR:42875 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 5a086bcf-ac42-488b-9ef4-48a89592a51e CLINVAR:14090 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afa5c9cc-4ea0-4e53-9777-f014a501c42b CLINVAR:14090 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 94541f83-6431-4d17-8954-c370d93464c2 CLINVAR:14090 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a61ce168-81e9-4b6b-b3cb-7affd12342ee CLINVAR:14108 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7a1b0f6-ffe1-4d75-9c18-63cefebafccf CLINVAR:14108 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b355a58c-640a-4766-bae7-9e796eee3c5b CLINVAR:14108 biolink:contributes_to HP:0001644 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a204d331-5826-4b2a-8609-8fab5d5b64b9 CLINVAR:14108 biolink:contributes_to HP:0001725 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 8c537742-adb6-4076-9bbd-24ba10a4ba3e CLINVAR:14108 biolink:contributes_to HP:0005159 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 0521b0b2-b3d6-45fc-9887-659cf32d710d CLINVAR:14108 biolink:contributes_to HP:0200130 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 99aa364e-e5fb-46f8-8299-4b26899f18bf CLINVAR:42840 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b760d55-5883-4c4a-a8c5-012d36619283 CLINVAR:42840 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3aac99e7-7687-42f5-a914-cc2cf6054fea CLINVAR:42840 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 26f3856b-2c71-47c6-bc99-ee82655e0cb8 CLINVAR:42838 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d03a200-2b60-4857-93f8-95469853b6ed CLINVAR:42838 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e18457f4-2dad-4fee-8f95-b41832968e12 CLINVAR:42838 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a6e3de38-dafe-406e-be14-7dd97b5f1ce5 CLINVAR:14089 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b065cce-02ba-4e0f-8f62-2fb6c4bdbe78 CLINVAR:14089 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c66e99d-d1e2-41a9-b743-e37430ccd65e CLINVAR:14089 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 95de67ef-9b7b-40e1-b340-f6e6c1979eab CLINVAR:14129 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f662b02a-a427-42ea-8b08-3de79c9b95e2 CLINVAR:14129 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8256f71-ed81-45e5-afb7-8fbb7baa4ffc CLINVAR:14129 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar cd5c552a-6fa6-459c-a39c-1d122bba2774 CLINVAR:42835 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b141eee-f416-4ca4-b536-40fc48121d47 CLINVAR:42835 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fd6e56f4-d434-43a8-a09a-13b1d73aedc9 CLINVAR:42835 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 573f54b1-2cab-46dd-a15d-f49cfcd650c8 CLINVAR:14087 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf705d91-8f37-4912-a938-97e3d52adfd8 CLINVAR:14087 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c8bd9004-364d-46c1-8215-c9405f3cdac5 CLINVAR:14087 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 071100e9-637e-4443-aeb0-73e85136ba83 CLINVAR:14102 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed04b454-c6bd-484e-a3c4-75f6d7939d95 CLINVAR:14102 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d3b37cd-db86-4a2e-b618-898f29d9c004 CLINVAR:14102 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar ecf96ffb-d7a2-46b8-9a42-88f5b6454968 CLINVAR:164378 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71097772-61e1-4628-806a-bc1b361904d9 CLINVAR:164378 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3cd09805-9685-4f9c-bc9f-316e7203ec0d CLINVAR:164378 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 2769278f-33fb-45c4-be68-51830ef97462 CLINVAR:42822 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4cc9b28-619f-4a44-bdbd-d14f87ce4664 CLINVAR:42822 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7db6cf9c-3634-49ea-90c0-73a50a1a3d30 CLINVAR:42822 biolink:contributes_to HP:0001644 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar d17009cd-ca8f-40ec-b5e2-ab7da8c1703a CLINVAR:42822 biolink:contributes_to HP:0001725 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 683487ba-4a09-468d-80c3-306208985336 CLINVAR:42822 biolink:contributes_to HP:0005159 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar c223d1af-08c4-4251-885d-46c6d4830b87 CLINVAR:42822 biolink:contributes_to HP:0200130 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 87c90ad7-6797-4c6c-9a12-d55c595671a4 CLINVAR:164381 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0ca2f61-dcd4-46ec-a017-555f219e66fa CLINVAR:164381 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 26ad44a0-27bd-413b-aa00-1c8be8b3d959 CLINVAR:164381 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar d776fd5b-1059-4d7d-bf80-6b614f567f76 CLINVAR:43106 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e264ef2e-72da-4f2b-a88a-de999b952523 CLINVAR:43106 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2bf475ec-3f55-4d93-9fca-6870b2639582 CLINVAR:43106 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar a9df02b5-94ec-464e-8cd5-2e874c1231fb CLINVAR:43100 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2537e79a-de16-442e-8c46-9b1d687fa2d7 CLINVAR:43100 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f67da46a-1b7c-4bd0-a347-829c1b61c232 CLINVAR:43100 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 02d60d4a-1e54-4552-894e-d3b9d121dee3 CLINVAR:43006 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04890cdd-5fba-4888-9911-107df3cf370d CLINVAR:43006 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 072a09f7-3f22-4801-a536-ea3c5f8e2e2a CLINVAR:43006 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 1e031410-1b82-4047-99dd-0823bc01d204 CLINVAR:164401 biolink:is_sequence_variant_of NCBIGene:4625 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f49be7cc-560b-4c20-95b3-7c7fcad96701 CLINVAR:164401 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4fbf046-d1f0-43cf-ba83-e1302ae4fb7b CLINVAR:164401 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 5442900d-637c-47e4-9240-a8b4f1816b37 CLINVAR:451937 biolink:is_sequence_variant_of NCBIGene:2290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86a1b9b4-93c9-4411-a6d8-e5de95549782 CLINVAR:451937 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0478ed8c-c84c-4f8f-9478-135a19fecf86 CLINVAR:189612 biolink:is_sequence_variant_of NCBIGene:2290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9553f4a8-c53e-4028-9d68-6b232e0f33d1 CLINVAR:189612 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3fce9d59-5a9e-4a93-96a9-737a1738951e CLINVAR:95268 biolink:is_sequence_variant_of NCBIGene:2290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c542c07-8c19-41ee-9407-b195be2f27e8 CLINVAR:95268 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef8a2e54-007b-4709-bc01-11ecf95b15e9 CLINVAR:205485 biolink:is_sequence_variant_of NCBIGene:2290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed219e8b-3906-4131-822f-bd73bdb1a428 CLINVAR:205485 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1da5d37-2d23-4177-9da2-347fa5b0e001 CLINVAR:547390 biolink:is_sequence_variant_of NCBIGene:2290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79182537-056e-421b-a3f2-4ef7fd21cc44 CLINVAR:547390 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5a9db68a-0e4c-4179-be5c-60d92b4889f7 CLINVAR:452682 biolink:is_sequence_variant_of NCBIGene:2290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f0089f6-4ac8-4dbc-8ea1-60ceab513751 CLINVAR:452682 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c297f559-e1e4-483c-8fce-4a28da50a371 CLINVAR:985267 biolink:is_sequence_variant_of NCBIGene:2290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc908768-e65e-4b5c-bc06-416a5e98c980 CLINVAR:985267 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 97483474-b429-44e4-882a-cb6da3800e4b CLINVAR:167092 biolink:is_sequence_variant_of NCBIGene:2290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e8ed98a-74da-4f3a-a0f2-f56f360ac232 CLINVAR:167092 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 273afc03-e828-4de3-b617-9bd02ddd3eaa CLINVAR:425040 biolink:is_sequence_variant_of NCBIGene:2290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49683bd5-9639-4558-8f91-43f23a158b5c CLINVAR:425040 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 754277d2-d762-454e-a47c-d3d6c9a03405 CLINVAR:205491 biolink:is_sequence_variant_of NCBIGene:2290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e837c22-68ce-4e80-a33d-e662c1e3f5cc CLINVAR:205491 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53ed2693-3b09-4ad5-b90e-001c71273f12 CLINVAR:1878806 biolink:is_sequence_variant_of NCBIGene:2290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c985691-326f-47e1-8738-4f62399f7df5 CLINVAR:1878806 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a8365d39-74e6-46cc-8eb6-83c5862f5afd CLINVAR:2443586 biolink:is_sequence_variant_of NCBIGene:2290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c54abec1-ff7d-4057-912d-60da8c36e8b6 CLINVAR:2443586 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ecdd6583-02c0-4261-8e04-5f9d5bb14760 CLINVAR:158602 biolink:is_sequence_variant_of NCBIGene:2290 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87cedcf0-f230-4340-b2f2-a38984cdb51a CLINVAR:158602 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 40eeabe6-d209-419a-8d49-bc065e86c257 CLINVAR:6611 biolink:is_sequence_variant_of NCBIGene:1690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ad83b11-5487-4b7b-b516-d9484c0bc265 CLINVAR:6611 biolink:is_sequence_variant_of NCBIGene:100506071 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d7cdc1d-94d8-4225-b504-efc2490a1179 CLINVAR:6611 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6734ea70-4048-478c-91f2-569d9d4c26e2 CLINVAR:3620741 biolink:is_sequence_variant_of NCBIGene:1690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e8788ba-a7f6-4d51-8c4d-a15db6727e5f CLINVAR:3620741 biolink:is_sequence_variant_of NCBIGene:100506071 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7bf07d09-ab1b-47f6-8d23-fb13f098a879 CLINVAR:3620741 biolink:associated_with_increased_likelihood_of MONDO:0011058 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2fd9c43d-0fdd-4883-9df8-2e59dabd728f CLINVAR:209092 biolink:is_sequence_variant_of NCBIGene:6655 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6a41f8d-b364-4c8f-93c0-6ac5ef92139d CLINVAR:209092 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c9c3bff6-6bff-4130-85ff-1c81009c3565 CLINVAR:825804 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5729d3b-7d5a-4f39-851f-8f08d57d9462 CLINVAR:825804 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b0742d80-ed62-4d68-806e-2e0736ddf2e2 CLINVAR:477261 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ed8e66f-a020-42e4-a257-3bd851c90a3f CLINVAR:477261 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 033ea5bd-6988-41dd-ad57-6bdae87f56b9 CLINVAR:254350 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10532593-cebb-49a7-bdf9-72064932577e CLINVAR:254350 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e784e535-a63d-4ed3-b32f-74734f6e1c59 CLINVAR:429125 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a067e932-eddd-4b02-ab30-3c2d4712f05c CLINVAR:429125 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f0ecc541-69e1-480b-ba38-814874bad321 CLINVAR:412119 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07884729-cc17-411c-bf5d-957cbe8b8473 CLINVAR:412119 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc43e8e1-1328-4ccb-a6cc-55f108f8d5ce CLINVAR:933084 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c47d17e-eeba-4e57-aeb5-2dea4882d4ba CLINVAR:933084 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd7ed3c2-20ac-4d9c-a9c1-034d5c53b09f CLINVAR:933077 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 618036e0-81f1-4a44-b5bd-69e3fea9bafe CLINVAR:933077 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1960cecc-c23d-41b0-954f-1fb0535a6495 CLINVAR:661301 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f74c1cf8-e7a0-455c-bed7-d4cb735ff293 CLINVAR:661301 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5816d4d9-367c-46a8-ab30-2d2779236a61 CLINVAR:1713278 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8db539d-5b99-4000-a2a2-a680d321f244 CLINVAR:1713278 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c85ca7d8-8c0f-48ee-b003-1ed9518bd829 CLINVAR:690481 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1471be8-3676-4ac2-b37b-f80e7fd42bd3 CLINVAR:690481 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c285e4ca-1ada-46c5-a5d8-3c96530fdf3e CLINVAR:690454 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 975656f8-ae8a-4d82-91b0-efb646167516 CLINVAR:690454 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a7723c7f-a014-4e2a-8c9c-d79b81de92d7 CLINVAR:1687567 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b8f9cb9-eb2c-451b-8aef-af9654d9fc8a CLINVAR:1687567 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 35b2e825-fc96-4b87-afc6-1bd288e8bfeb CLINVAR:690480 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb8d5b4c-3dd8-4c52-b960-688bd09b4ce5 CLINVAR:690480 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8b69f73-7467-4d7d-8791-b55ddeafe960 CLINVAR:932987 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5b54087-3b22-45d3-8ef9-2ea1fcc4b658 CLINVAR:932987 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d520291c-96f6-48ff-afde-dc8cd031bb2d CLINVAR:254344 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d6566cd-cf6a-48db-9f17-9cfb0e7156b2 CLINVAR:254344 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b954689-129a-4e21-bf2c-c1891b6737bd CLINVAR:580203 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e78a0b8-7f30-4dce-a483-f35362656fa9 CLINVAR:580203 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4cce6568-ce13-4b05-831c-b5a6d969617c CLINVAR:4468 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7bc09e2-b2bc-4c39-b969-f5431529c56b CLINVAR:4468 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 04d72974-8f31-43cb-9d45-afec2633c8da CLINVAR:429113 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa589dcd-24f4-40e7-81cd-a787c9c9eeba CLINVAR:429113 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d4b08f2-cb9a-4509-9fb5-730b0ab0860b CLINVAR:429116 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5bbac97-f253-41d8-894f-803cd1911aa8 CLINVAR:429116 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87d4e6c3-508a-4c63-9e71-345d6e34b0a1 CLINVAR:929411 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7494a864-d3d5-4b6b-b217-fb7c0989cddf CLINVAR:929411 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a6c9d142-f97d-4e25-a2e9-4025507bb353 CLINVAR:254310 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 754b358a-4511-442a-b480-050cae285c82 CLINVAR:254310 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85d99e21-9f27-466d-a2c8-312d3332fbbb CLINVAR:690445 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1141f86-52b8-46f9-9310-b30763fede25 CLINVAR:690445 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 77e8a10b-ad2d-4617-a879-63785eedafa0 CLINVAR:1209876 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e104159c-238a-463b-adc2-c08a2da5440a CLINVAR:1209876 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f6fa0ec-208c-4f0a-a41d-f9ae70a69bdb CLINVAR:1676595 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97ccad80-32d8-4bf7-bf19-944d39d28739 CLINVAR:1676595 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 289cc17f-41e1-43aa-a354-9953a9235470 CLINVAR:30566 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a83c596-1b5c-4a62-9113-8453b9cbe28b CLINVAR:30566 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1441e4f8-cfb3-42aa-ae9f-496d2152e37f CLINVAR:933010 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a301691a-ddb2-4228-85d5-35ca52e7b7a8 CLINVAR:933010 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4af50206-acbd-418d-83f1-9245c5539b87 CLINVAR:645957 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18b8d31f-87d7-414f-a67c-340f8335d515 CLINVAR:645957 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 196c554c-a074-40e9-b049-8e44761b0c92 CLINVAR:2020494 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42d157a5-8047-4c3a-8b57-67648237a40a CLINVAR:2020494 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0cc7f8fe-f807-4105-9e30-89095d202cfe CLINVAR:836280 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0bcb43d-c0b8-4220-a16d-b959a8df47a5 CLINVAR:836280 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ddd77298-4250-456d-ba8e-dd1f026c880f CLINVAR:429148 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54792520-3034-4199-9f79-c337b7eedb1c CLINVAR:429148 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35c8cb66-5785-4882-b02f-d92528d198be CLINVAR:254298 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ad841d7-8300-47f5-b7f1-9bc8003b3ce3 CLINVAR:254298 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3801982e-8130-43f1-9511-0e48c6f7e400 CLINVAR:690463 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f97d0ab-f21c-4808-90d6-704272d41924 CLINVAR:690463 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 99079e0d-ea81-4b96-a3b6-af697d60187f CLINVAR:2573146 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 163b17b3-16ce-411c-ad84-6661570d1d8d CLINVAR:2573146 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ebc18bf6-a0f6-442e-a1b1-0b17b17dd839 CLINVAR:690461 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02253fde-5233-4492-a9c1-71a4db447a46 CLINVAR:690461 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 77fd5d6c-548d-4e82-a812-14ffc5a11094 CLINVAR:1487846 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21d366ed-d5c8-4626-8ccf-d509ae2af1c8 CLINVAR:1487846 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel de8ad953-57af-47e0-8d46-99577a844145 CLINVAR:254287 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 994fd150-b53b-44dd-bff6-d9f79c4c726e CLINVAR:254287 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78e3117e-8613-4c06-9cb2-4159ff771fa0 CLINVAR:254355 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbf89f81-7eb2-4cb0-b074-75854e479830 CLINVAR:254355 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d559f00-51fa-4a50-8359-519e3e602cac CLINVAR:30563 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64c7f4f2-17bc-4c3a-8cf7-d206ac320a9a CLINVAR:30563 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 305d57e1-8bbd-4c86-bdf3-6ee438139063 CLINVAR:2765748 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8bd95d1-e997-4f2f-bfec-f0bab1539fea CLINVAR:2765748 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6a9fedbc-490d-4df3-a914-e1aa84c22f95 CLINVAR:649946 biolink:is_sequence_variant_of NCBIGene:23405 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14865b4c-6cab-4cce-8139-8c4102364119 CLINVAR:649946 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e6a328fa-954c-4e41-80b6-099e7dcc0c67 CLINVAR:160220 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a412e38f-d636-4a20-88d7-0b434d5ac39b CLINVAR:160220 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c09ad8c-b6dd-45e0-af6d-1f07d2e6b015 CLINVAR:160220 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f264c5a5-5709-488b-a0a3-b5a6621f9e0c CLINVAR:217365 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c8f1efa-45aa-4436-af12-aa361846bc3a CLINVAR:217365 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d04db844-f33d-4078-bae8-8ea1826550f3 CLINVAR:217365 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d678152-5a6a-4d50-a731-83a688e3bfcf CLINVAR:156620 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a4a6058-b283-4fef-a7cd-3e1a161bf055 CLINVAR:156620 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ea7032a-1d44-475c-8540-33a0349c6807 CLINVAR:156620 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 11d930b7-90a2-431d-b156-0ab5dd9991b5 CLINVAR:654655 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4c89054-8ef1-42db-9c43-9113d2e30353 CLINVAR:654655 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84274a8f-b90a-4721-91dc-1c0a1bf80d01 CLINVAR:654655 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 871186bd-38b1-4522-b60c-bb2e301cba36 CLINVAR:7967 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1704fe84-51de-4fb7-ab29-ed5ffc0d4b68 CLINVAR:7967 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04794f90-161c-4e8d-9980-61fafb9e8185 CLINVAR:7967 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7894071a-82a7-4862-9663-291a79914dec CLINVAR:421239 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16871aae-3c52-4c67-9563-cd201d2026c0 CLINVAR:421239 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8cfec5b-95b3-45e0-bae4-a58eac3f1376 CLINVAR:421239 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 72872641-8657-449f-b81d-37dedcdfadb1 CLINVAR:160214 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fea5e224-a207-41ac-a14e-499943df8ac9 CLINVAR:160214 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar caedace7-a979-4204-9b3a-25dde9762514 CLINVAR:160214 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 832bcf52-ff0e-48c1-bb75-058674f92385 CLINVAR:155987 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aaaac69d-af46-4c8e-b6f6-1babc955f498 CLINVAR:155987 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3816642-346a-46fc-9f56-8c9039697aa1 CLINVAR:155987 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 27020028-5d3e-46e7-a7ae-840bc7f47856 CLINVAR:418572 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 013978d9-ac3b-45eb-ab79-bf3b69f46fc6 CLINVAR:418572 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d552c750-c09a-4606-9d8b-f802ca1d493a CLINVAR:418572 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89569eb3-2e07-465c-8807-b33d4ae0ea9c CLINVAR:155951 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb209a84-fbec-4988-8a87-741a1b02ef21 CLINVAR:155951 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b0ecfe9-44a7-400d-ba30-d9de7fd87207 CLINVAR:155951 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a002bf07-f609-4029-a9fe-62d06854bd05 CLINVAR:546267 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9285b5e9-dcaa-46e3-989f-d2ff1e8375f7 CLINVAR:546267 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6bb0278-109b-445e-aeb3-0f0e7717563b CLINVAR:546267 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9ed85c4-cf49-4262-b6af-1dfc14fceafc CLINVAR:620293 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f5ee81e-e81c-48c7-b941-664a5dcdcabd CLINVAR:620293 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ff862d4-4369-4e24-9cfb-8cbd91330d67 CLINVAR:620293 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5dc68fb8-457b-4cca-9e97-975c0c343eda CLINVAR:155994 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6c2c619-bdb6-45a2-9607-9e8b181a8eee CLINVAR:155994 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ac2b2e5-ff97-47a8-afdc-7ea0bcb3bfc1 CLINVAR:155994 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd0ff039-486b-4437-9182-73a7b2dccc84 CLINVAR:136199 biolink:is_sequence_variant_of NCBIGene:7337 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e29118f-0512-4bd9-9605-872535b99054 CLINVAR:136199 biolink:is_sequence_variant_of NCBIGene:104472715 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65454aca-a3d2-420e-9598-36bcbab7cb04 CLINVAR:136199 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b72ed0f-b86a-4d1f-980c-6990e827980e CLINVAR:45191 biolink:is_sequence_variant_of NCBIGene:70 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94b54481-0195-4599-b537-7a43cf12ab5c CLINVAR:45191 biolink:is_sequence_variant_of NCBIGene:101928174 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e117ac1-401a-45bf-a6db-20e7c266fbc9 CLINVAR:45191 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2379428d-1a82-4197-a521-9b38d64ced7b CLINVAR:45191 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 9631eb64-9bc7-48ae-97ea-47e2eb88fd01 CLINVAR:18331 biolink:is_sequence_variant_of NCBIGene:70 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 641fd829-09a6-4d7f-a528-54c2894dfbd1 CLINVAR:18331 biolink:is_sequence_variant_of NCBIGene:101928174 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 279dd5d3-bec3-49ba-a748-fb83f7bc4114 CLINVAR:18331 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1721db7-d0ac-4fb4-9ad3-c51edc05f634 CLINVAR:18331 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 0697d10b-f34e-4e0c-99fd-133de6d7da24 CLINVAR:217151 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 543f75ab-1b3a-40ba-aab2-db6e5cd4c6f8 CLINVAR:217151 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 528a93b2-1614-4544-ba3d-2763f4335906 CLINVAR:1072479 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba385f06-5c71-47dc-9da0-6238da53324a CLINVAR:1072479 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0a3b4be0-c634-4cb9-b77e-72cfb84d00b3 CLINVAR:92411 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fac89000-d4f2-4797-9de3-240ab40436fe CLINVAR:92411 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1ec23d1-0813-4570-905d-3d4057e1ee31 CLINVAR:284122 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ae79861-bd7f-4bbf-841c-2a2421e9754a CLINVAR:284122 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4092492-601f-4c03-977d-0cb2a641713c CLINVAR:210563 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ec5463f-72e9-4a88-8c24-73e03c3af19a CLINVAR:210563 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09f2d122-f77d-4133-816a-1ba16260d182 CLINVAR:17615 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e045eaba-c27c-4f4d-8c84-c0458a362aaa CLINVAR:17615 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33dedf3a-9d46-4443-8ba3-437eeb46fc74 CLINVAR:496977 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04ed2bc1-6431-45ba-ba2a-264a45b0b70a CLINVAR:496977 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 133c57aa-aa79-4dbe-b182-dc552a75cda5 CLINVAR:217157 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 876494d4-f03d-441d-a281-b323d51e8279 CLINVAR:217157 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b88d6a7e-f9d9-4f4f-9b3a-ded7d57440cd CLINVAR:17621 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5430ead-da08-4670-bcae-faf166b3ee2a CLINVAR:17621 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48f14aec-fe73-4e98-9168-e46a95d605f5 CLINVAR:166786 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 955381b0-e1bf-4ec7-a40a-aad595907706 CLINVAR:166786 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fdb5a48b-021d-4146-9323-e80c04297088 CLINVAR:284946 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fab30c8b-31b1-4d24-b643-a0fb3c07ea48 CLINVAR:284946 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3e55be8e-15e8-47a1-bf42-04247173cf8c CLINVAR:217159 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8eb1e761-0778-467a-84e6-696f4b337a37 CLINVAR:217159 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ea261c5-4587-4ab5-ae4f-653bd3db6a88 CLINVAR:282623 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f583791-247b-4d0a-a4e6-e9ee04ee8485 CLINVAR:282623 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 604d3d49-d909-4bf9-9549-674420b775f3 CLINVAR:501754 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7374922c-5a41-47b3-8ac1-309afe55b8cc CLINVAR:501754 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6c8d33b-8756-4778-87fa-41fa62f03b9b CLINVAR:4684968 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12e4eda9-34c9-45d3-80a5-c5ed507dde5a CLINVAR:4684968 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d961e31-431c-437f-a58e-45c52d6c0f79 CLINVAR:197624 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f662ce2d-d39a-4eb6-901e-775415de0925 CLINVAR:197624 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28f90cdc-0092-4071-a0bf-c8f2e90ba1b1 CLINVAR:217160 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d94bfdc-cbd0-43af-b153-6133de3cb3b0 CLINVAR:217160 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ea850ae-6afb-46d5-a741-683785c66686 CLINVAR:620114 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35ec5431-9931-4866-bdd9-b80d6a594ed6 CLINVAR:620114 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e080aefd-e841-4b67-8365-46fadfbf76ee CLINVAR:497182 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d4d53b7-41f4-4221-844d-bfc5c774735b CLINVAR:497182 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c8d80546-b82f-44e8-bc85-f8728c789783 CLINVAR:468639 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d43d315-14a9-4649-9643-b6f449c87240 CLINVAR:468639 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 308b1f4e-874e-4e35-931e-80050290810d CLINVAR:265521 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56dd8354-5f14-42be-92c7-4c1f5988e661 CLINVAR:265521 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bec37bcf-5235-4e45-8bc2-98d353cdd1bd CLINVAR:497565 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a1c13df-dde5-4fed-a052-c323e977a5a6 CLINVAR:497565 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 08b9df5c-9253-41fb-af5f-5a423b05128e CLINVAR:217146 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40061f3a-443b-44c9-8c5f-e5b38efdb5a4 CLINVAR:217146 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1bfb946-b904-40b3-93de-5f3aa6973015 CLINVAR:2758089 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b3ee711-31ef-4371-af81-6fb9d56e643d CLINVAR:2758089 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8411892f-5c19-4907-9b2f-75fd6160a41a CLINVAR:973317 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01aa4a21-9539-4713-a519-caa0684bcc93 CLINVAR:973317 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f879f4c7-41ce-4462-850d-cac6d3744156 CLINVAR:281505 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a54623d-4a20-4276-a8b5-577af7dab586 CLINVAR:281505 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09b86069-6373-4d4e-ae6b-3f2cad65b79e CLINVAR:284518 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82f2572d-c630-48d6-8b63-d5e7a8b1ae2e CLINVAR:284518 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e0fd5c54-5bba-465a-8d71-d3c8ad25d097 CLINVAR:282873 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60168985-f69f-494e-aa4a-dd870e99b03e CLINVAR:282873 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 821fa127-9672-4f90-a90e-d583300a37b9 CLINVAR:282173 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9172a344-b478-44a9-9eb4-fe065ceeb6a5 CLINVAR:282173 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 377f4893-f3a9-48cc-9574-94e418d3a394 CLINVAR:281062 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5e1d9b9-eded-44c8-b47e-ac22f8657a2b CLINVAR:281062 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52d7d418-1f58-4ae2-bdb7-6b2f7a14e854 CLINVAR:217147 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64fa1463-05d5-4d17-bfcb-45850ccc855b CLINVAR:217147 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 147cdb58-6aac-4961-a77f-4a106013cf01 CLINVAR:2137655 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04b268db-0d0d-467a-ad89-5f86a3601355 CLINVAR:2137655 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6b70f22b-d250-4831-90fa-06a1841c020a CLINVAR:280038 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c93b7698-3f1e-4677-81e2-83d516a38c77 CLINVAR:280038 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 66412eff-52ea-4826-8b1a-7fd68c38f0dc CLINVAR:217149 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1def165c-c515-406f-942b-5bfdcffa2f41 CLINVAR:217149 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 474770c9-9168-4c73-8ef8-05ba6c9f9f13 CLINVAR:1180840 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4947314a-a185-45a8-bde2-f29b4802640e CLINVAR:1180840 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0d2acd44-d8aa-4a96-86e6-6acc081f29ce CLINVAR:553852 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a70bcec-87e7-439b-9dc2-1c985f8b8788 CLINVAR:553852 biolink:is_sequence_variant_of NCBIGene:130056921 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a363797-9fa6-4e5a-b431-bf4d0075ae36 CLINVAR:553852 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel afec185d-623e-4bf5-8edf-353e3145a3b5 CLINVAR:92405 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 694841d7-fdc4-4690-92d7-a479215e6d31 CLINVAR:92405 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d006df6-8c8d-4835-8eb9-17f74c57d18e CLINVAR:166790 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 660a7427-5270-4171-9a63-d29d145c25f9 CLINVAR:166790 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a578340a-89ee-4c22-b91d-1013fbda90de CLINVAR:17622 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f65c8c12-e44b-401a-bc4b-63c659cfffed CLINVAR:17622 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a28f1f8c-1783-4484-a551-74d24c76932c CLINVAR:286592 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49e65aa9-f197-40e0-a66a-2a42f5d702e4 CLINVAR:286592 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be8e269b-ad6c-495e-a6f9-67778d2634b2 CLINVAR:282617 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4d7961e-e9a6-473d-85eb-2437a4addee7 CLINVAR:282617 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel edc7f138-011e-498e-81f0-3019fab0ad8b CLINVAR:498267 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2034cbdd-3b61-4209-ab67-2dfea519c2a8 CLINVAR:498267 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 517176d2-48e5-4f56-aec6-4685b6a733a8 CLINVAR:92407 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf2e23ee-7529-4bfe-b230-b792598bda0f CLINVAR:92407 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel adbdb96e-3a70-44ea-81c6-a4fc1d6211bb CLINVAR:551477 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b1cf346-7e0e-442f-86b4-b3827545d2a4 CLINVAR:551477 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7292e9af-3e3f-4457-ad8b-c64a43329aa6 CLINVAR:217152 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f35e9cb8-1e30-4dfd-803d-b91d5af66a31 CLINVAR:217152 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de0f70f0-6bbd-4508-bb02-f4578f743dff CLINVAR:17614 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 618ba58d-40a0-4dd3-94e6-b60d62dc5744 CLINVAR:17614 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8cd068a-a19c-4e62-b863-59ff224b5ab6 CLINVAR:283179 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58042af5-bf9d-4ef2-9860-6e97803aff9b CLINVAR:283179 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc774bcf-623b-4876-aaa2-a2ab323e5ab0 CLINVAR:92408 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2debdc4f-5d62-4ae5-8339-75d144829b20 CLINVAR:92408 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8382ef42-25e5-4135-9c01-bf1760c6a4f1 CLINVAR:554906 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f0807be-f7dd-4441-8ba2-3201812a5f2a CLINVAR:554906 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18cf01f8-acb2-406f-a9b6-2748e4cedccb CLINVAR:595306 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a668685-cbf8-44e2-8378-02a1bb6f54fd CLINVAR:595306 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5572cc3f-6dad-4ed8-b2e5-96967a32aa27 CLINVAR:935255 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eba8688b-1d14-4fba-88ef-abd8b00647fe CLINVAR:935255 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 640a0bb7-c3d1-4394-a426-da776d186a45 CLINVAR:194691 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94f3d0f5-f936-4337-b3cc-34439e17cfd7 CLINVAR:194691 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c573604-b205-4055-9dbf-16bcf48812aa CLINVAR:282494 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95a22f33-3211-4611-8768-86c9d647c601 CLINVAR:282494 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53c48f68-6477-465f-8c1b-e0c193130296 CLINVAR:283099 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77b49da9-a77f-42fe-9c67-84f5032da9a2 CLINVAR:283099 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e65de7b-62da-4a87-8820-7c7ccdbce6ab CLINVAR:468648 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aaf309b0-30c4-45e6-9818-4b7cffcc68c4 CLINVAR:468648 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ad4cac4-ab49-4f46-8b2a-756fea157bb4 CLINVAR:285340 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5691d02-2e3c-4689-87c8-4cb7024b31cc CLINVAR:285340 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ba6d120-8711-4ee2-8a34-04c4561e722a CLINVAR:871348 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fae9c07b-885d-43e2-a74e-09584e525247 CLINVAR:871348 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55bfc82e-975e-4bb0-b26a-28c0b2932f00 CLINVAR:283259 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46b9a44f-e4a7-4364-a1d1-99d651653a01 CLINVAR:283259 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e05c0d60-707c-45ca-9bbc-77bb6c448358 CLINVAR:128570 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70b247f8-e9ef-45c9-8276-37d311ddf6af CLINVAR:128570 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae1ec050-fcf9-401c-bfb8-df0f214c113a CLINVAR:289082 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4998cc28-2701-4866-8aed-874d25f5478f CLINVAR:289082 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa8d558c-c57d-4cd8-824b-f714af40642f CLINVAR:282681 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 679e2f15-4ed6-489e-ade0-e5a017ee2127 CLINVAR:282681 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1edcd729-1f46-4748-acb7-6ff719ae9329 CLINVAR:497201 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79c525f5-e039-437c-887f-adb48bf55ae5 CLINVAR:497201 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 725bf455-cea1-4867-a6e3-722f3fd286b8 CLINVAR:17613 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8873152b-50c8-43f4-a226-de29a4daa246 CLINVAR:17613 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3595632-3040-4d59-8b18-a04da79a7a68 CLINVAR:652571 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 604d07b3-fe68-47a9-bf81-0e66157fd433 CLINVAR:652571 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e3de9453-feaa-45cb-9683-e3d18a65894e CLINVAR:17618 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e03090d-6b0f-42c5-a2d5-03c335c90dd0 CLINVAR:17618 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbea854b-d0f4-4416-948b-7ea14e0e3459 CLINVAR:92414 biolink:is_sequence_variant_of NCBIGene:825 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d8f2eef-f9fc-4f9e-92f0-d25f7109be3d CLINVAR:92414 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79011d80-f263-4aeb-8036-e78233c960c2 CLINVAR:2446451 biolink:is_sequence_variant_of NCBIGene:2628 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4983a7d7-d771-4424-88b4-2199dee7e2cd CLINVAR:2446451 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6c2007a9-4c57-4866-be46-2176d50749e7 CLINVAR:598112 biolink:is_sequence_variant_of NCBIGene:2628 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb91d7af-d4ab-4bbe-9463-dcc43870c923 CLINVAR:598112 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 59803784-7091-4c4f-8f9c-baf8fc777024 CLINVAR:55918 biolink:is_sequence_variant_of NCBIGene:2628 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd3adad9-cb5e-41f2-90ff-3c38f6e78307 CLINVAR:55918 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06778329-73ff-4edd-a7c0-758512b72635 CLINVAR:955458 biolink:is_sequence_variant_of NCBIGene:2628 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 223f55ac-9ab2-42e0-a985-a9c9b1671a5a CLINVAR:955458 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e67f0349-835e-4429-b91e-a9bd907d3d14 CLINVAR:205617 biolink:is_sequence_variant_of NCBIGene:2628 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b00759f-9b84-4b53-9eab-1349e4aab08f CLINVAR:205617 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9478d299-6282-43f7-a0dd-dd97e1d6e075 CLINVAR:2446450 biolink:is_sequence_variant_of NCBIGene:2628 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0aebac5c-3d96-4fc3-b5a4-d372dacffe21 CLINVAR:2446450 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6353fa8-da7b-409b-a599-bb92f853b16f CLINVAR:55921 biolink:is_sequence_variant_of NCBIGene:2628 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9df26e56-c2af-49f0-9cf7-ec6bb00231f4 CLINVAR:55921 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel da577a4a-d501-46e9-a16a-803d1d6b9d7c CLINVAR:1478699 biolink:is_sequence_variant_of NCBIGene:2628 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85120487-bf74-4f20-8196-383f34aa54be CLINVAR:1478699 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fa5627ff-9b0e-4db2-b5b5-4b0c3bcacb31 CLINVAR:55919 biolink:is_sequence_variant_of NCBIGene:2628 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9f41cb9-352c-40ad-b9d6-ab0a887f6006 CLINVAR:55919 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7be3d0d8-f950-486d-9461-3d1a8022e7f9 CLINVAR:21299 biolink:is_sequence_variant_of NCBIGene:2628 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61c0a6f9-2597-4e38-814c-ec9e197c29a4 CLINVAR:21299 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cbd980f0-7b67-4771-8a86-dde87edbaeb5 CLINVAR:7302 biolink:is_sequence_variant_of NCBIGene:2628 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15cf1e6e-2164-4211-8729-34c098d36331 CLINVAR:7302 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c2ad3c2-aa00-40c2-a523-efcf5fdfe0a9 CLINVAR:572733 biolink:is_sequence_variant_of NCBIGene:2628 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b4d4b2c-855a-4d42-af3a-a8e6e5eef72d CLINVAR:572733 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3c9db64d-96f6-467e-ae70-88427788f5a4 CLINVAR:263414 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03fafb6d-5fa6-4e7e-8536-e1bfdf6b36fa CLINVAR:263414 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 09f74ef3-c5ad-4bd9-a95e-d38af3538f3d CLINVAR:547349 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41b4d948-64fe-4ddf-aaef-ff8f9b80f9d0 CLINVAR:547349 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ec1edc0b-2a3c-484b-9afe-4b731f97d589 CLINVAR:42443 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff672b37-bcfe-4b3d-adec-54715329a46e CLINVAR:42443 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cf828546-0eb9-462a-a6fb-a1f9f5048b7e CLINVAR:16439 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30850222-06bc-4abf-ba18-18cb16230889 CLINVAR:16439 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ee6130f-fd87-4529-aa78-fb6ba682ce38 CLINVAR:163461 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8ab637a-ab5e-40d2-88a2-29da0a20e21a CLINVAR:163461 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c69ca1f3-e546-4973-84be-81fa83b93319 CLINVAR:549451 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e20acdf4-b9fb-43c6-a543-8e6d5f1d82a6 CLINVAR:549451 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a30f7d50-c804-42b3-a7d6-ca6dfcd6f59d CLINVAR:381609 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a51aa78-c51f-423d-af06-d343cbd47074 CLINVAR:381609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bcfa1d69-7b67-47e9-82dd-ba36bd9c0a00 CLINVAR:42436 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7abe141b-bbbf-4011-97bc-3880c4b9fb2b CLINVAR:42436 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7c75faf-14fe-4124-850a-89631b97281b CLINVAR:423498 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be115e62-6ea1-409a-90d1-22b6ce9e121a CLINVAR:423498 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d3ff436-d528-4964-8dcd-39d5c0f1180c CLINVAR:36118 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be1e3db0-ea9c-4315-87f0-36828e2bea07 CLINVAR:36118 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9801e9b8-2642-4a62-8036-5b2601edfe1f CLINVAR:626877 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a5fcac2-b397-476b-9320-6cf660cb6ed8 CLINVAR:626877 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ddbeb7f3-a5ee-48ff-a77a-88b571b804e4 CLINVAR:200198 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a02730f-1ee2-44cd-b260-3666c55e8bf5 CLINVAR:200198 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 12da3676-7652-4e39-9059-68b5d75bde67 CLINVAR:2506018 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d20f7ab-f0ff-489b-9062-19058ff3c3ca CLINVAR:2506018 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa5ea6b9-d95e-461b-91bc-f1d558d0fa09 CLINVAR:178034 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d461cbbb-f243-4ca4-b89d-3989134e786c CLINVAR:178034 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4933e0e2-6cc4-4a28-a2a9-de13688b973a CLINVAR:1098776 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fd352b5-e581-4827-ba34-646188c68bcf CLINVAR:1098776 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c28dc15b-d6ac-4b57-9a73-cc76d16f2c6f CLINVAR:1325453 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11a1575c-ba8f-45e0-8a73-6635583d9821 CLINVAR:1325453 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 206df8c6-bb05-4d87-9a8b-3d02838120c0 CLINVAR:636961 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef67b365-7cae-4c32-9bb4-bf09bc04eb40 CLINVAR:636961 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1ad863a6-4fda-4249-89a1-3c3e909c9886 CLINVAR:2581044 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b977be2b-7d5f-44f9-a4ba-6819f0df7384 CLINVAR:2581044 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ffeccca5-c9d2-456c-ba91-1da5cbc14eb2 CLINVAR:549394 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ca54319-47d3-44e9-94f3-d6915a9db2d5 CLINVAR:549394 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac6f732d-08bc-495d-824a-1663a01821a5 CLINVAR:42420 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3886004-2567-405c-87b3-550353da5d9b CLINVAR:42420 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c24efce7-6665-4eef-b443-b9e4b0f53a07 CLINVAR:495644 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b5b1bce-24f7-499f-8fb8-def41c280b00 CLINVAR:495644 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d814c716-270e-46e5-9e16-36b177516e92 CLINVAR:200100 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1bdab2a-1ca2-4e7e-b20a-f2304b7c07f1 CLINVAR:200100 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 90b9967e-19be-47af-a58f-e3bb9e32e220 CLINVAR:632813 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e6a3a50-4cb4-4f56-8725-4b144c61b091 CLINVAR:632813 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 31ae72be-e0a2-4a65-8e0f-56929174c261 CLINVAR:222610 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 196d40bd-9542-446e-82bb-c14ddd15bb4b CLINVAR:222610 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 74cbfa1e-b888-4bdc-a46e-bedff9f93a66 CLINVAR:492830 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee3059aa-a8e2-4352-ab15-c075afc047f4 CLINVAR:492830 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ad7ccfd-92db-4036-b1db-dbbb9db3de55 CLINVAR:429425 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a1f6c09-b924-43d2-9b15-5c757e60348e CLINVAR:429425 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6bdbcb94-c561-4fb9-b1cc-6c250474517e CLINVAR:2413172 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02e45962-1775-4dda-adcd-f3b0af51e193 CLINVAR:2413172 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1a76bb64-ccde-4663-bac6-aeabacfbaa8b CLINVAR:547340 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27d6d8ee-ac2e-44f7-a5e8-4696165f434d CLINVAR:547340 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 284ca38e-3731-449c-aaaa-42ba6461e627 CLINVAR:200193 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 265801aa-ea6c-4bbc-8f12-b89a03e3f887 CLINVAR:200193 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 044e1106-92e8-4c77-a035-0e2be2ac1774 CLINVAR:200084 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a53fe605-8c16-499d-a625-f9213eaf014f CLINVAR:200084 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15632e66-9651-4344-accf-2d87314d2e91 CLINVAR:42402 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4cd21b4-39f6-4e3b-8124-145d9c612b50 CLINVAR:42402 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7cc1d0e-a2c4-4333-95ab-bd22ad1df428 CLINVAR:633211 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cef2aa3-4acd-4f03-9256-875177d40a1b CLINVAR:633211 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46b42587-1aa8-4f69-a818-21aca027d837 CLINVAR:547338 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f438898-16ae-4288-84bf-761bcfaf445d CLINVAR:547338 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eda8a226-fed1-48ef-a58f-987d2f21aef4 CLINVAR:263898 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 135b87d8-000c-415b-823b-dfb5b444854f CLINVAR:263898 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f3d7cc01-045a-4e04-b868-2a260cf99459 CLINVAR:638559 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bca3d9ae-dc1d-44d5-9020-4bf476c2834d CLINVAR:638559 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b832251-b6b4-47eb-b3a8-451f8c45ebaa CLINVAR:570737 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f388fcf0-c71f-423c-96a9-6acdb79b3f09 CLINVAR:570737 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel be8672dd-4cc3-4af9-be02-f40398676d4e CLINVAR:547334 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08878c58-bc23-42b0-aaf7-35b740a5d48f CLINVAR:547334 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1bdce6ff-76ce-4da3-ba0d-f5a7d4989b2e CLINVAR:42391 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49870d90-9301-43cc-bda8-b498993e2493 CLINVAR:42391 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 81008080-5649-49c5-bf13-e9a6ab604df7 CLINVAR:495629 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a924720a-d4bc-4237-bf8b-44ffa794b20f CLINVAR:495629 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1882c3dc-18f5-4b2b-bb60-b46a70216e45 CLINVAR:2506004 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e05acc7-a31b-4625-8aef-67dec9ad9d90 CLINVAR:2506004 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 082f9d5a-4860-49e8-ad0e-f8ce6d407d29 CLINVAR:632819 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b48ea0a6-a312-4f8b-bb17-a17c070804ff CLINVAR:632819 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7dbc9be-65ba-493e-91a4-c6a4ff2b84ee CLINVAR:519783 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd777a99-075f-46b8-948a-9ec7b7755f5d CLINVAR:519783 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d95d43e8-8c02-41ae-9e56-0ffee5d4c2f9 CLINVAR:520496 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9dcf73a6-a7b1-410c-8677-b760e79e4988 CLINVAR:520496 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 036a9d0c-c0eb-4498-b57f-57513b6df1c3 CLINVAR:519760 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b17f5323-27f0-43a0-ae08-a56c7b6f3bb5 CLINVAR:519760 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25fe3ebf-0d9c-486b-bed9-833d71a7b274 CLINVAR:626879 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08a6912b-bcbb-4180-9873-26a0f2fafa15 CLINVAR:626879 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f25fa54d-f757-4b56-95b5-b423109f9069 CLINVAR:406332 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8702f929-534b-403e-9625-2a04d29c9c10 CLINVAR:406332 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 78256127-0388-4311-9762-afc3c3980753 CLINVAR:180355 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8eb28b5d-03a2-4189-9380-4c3f9f8ea6d9 CLINVAR:180355 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7c31f3e2-bbcb-448e-99d6-ebc19fba2c05 CLINVAR:549232 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 097e172d-d763-429c-9e64-890e4808a4d3 CLINVAR:549232 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2f5677b-180e-4cf6-8d59-020fda34a08e CLINVAR:549229 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8691fcd0-b8f0-4b89-b703-bde6e3c14566 CLINVAR:549229 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31e1cdfa-8342-4f72-8ce1-786643bca346 CLINVAR:495609 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f26e082-791f-4bc3-b623-3f5ee2dc3642 CLINVAR:495609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 96e86482-930c-4230-a886-012f8b215e3d CLINVAR:1325422 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8b0e31d-3062-410f-a0b5-7956071c5552 CLINVAR:1325422 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e533ffb6-c835-4e1f-aef3-b6141e06c7a4 CLINVAR:222604 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57f3f16d-12f1-4f18-92a4-be065a94ced6 CLINVAR:222604 biolink:is_sequence_variant_of NCBIGene:126862124 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 139bde9e-e8ce-4abf-a4f5-715150bd44fe CLINVAR:222604 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d3344a4-acab-4612-8b73-9dfdb9989e87 CLINVAR:449440 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67ea2d74-1fbb-4b1f-9ef3-6a2f9265b74b CLINVAR:449440 biolink:is_sequence_variant_of NCBIGene:126862124 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa5f7590-e45c-4231-93b9-fb6b8de9c78b CLINVAR:449440 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4f4ed986-6d7c-40d3-b4cd-0d4a0b8544d9 CLINVAR:2413173 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e690719e-4781-4aa7-8e3f-60d186abf776 CLINVAR:2413173 biolink:is_sequence_variant_of NCBIGene:126862124 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 531598ab-15fa-40c8-9a12-f005d3085e1f CLINVAR:2413173 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 338fcc43-2d25-4fe3-af73-d0a7c49ead84 CLINVAR:2413170 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d62c6c2-2bfa-40d7-bbc6-e1ad4bb9afbb CLINVAR:2413170 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 255b7d60-6907-4df9-a111-35fd945cd1a7 CLINVAR:626882 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92e0fac3-b58d-4c2d-a776-19e1f2da8719 CLINVAR:626882 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 87a4f64f-3a2e-4054-9ea6-87f7985aabd7 CLINVAR:200022 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87687b18-3ec4-46de-b739-7758820a5dd7 CLINVAR:200022 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 202638ee-4b78-4b6a-bedc-2ab4a8d69f49 CLINVAR:495599 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c14e376e-018c-4723-b1db-1525f8501cbf CLINVAR:495599 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33169f27-ab6d-4885-8e21-11508ea3faba CLINVAR:549180 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa0192f7-2aaf-4395-9129-c8d22770965e CLINVAR:549180 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 41687217-cb12-4a64-b84e-113d0383454c CLINVAR:549178 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c87c6e1-45ae-4446-bacb-f0ccf12888a2 CLINVAR:549178 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3d742c62-f8c7-4e16-a11d-602638e9449f CLINVAR:2581043 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e2f35cd-6324-48cf-914a-db9a890ca379 CLINVAR:2581043 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28d87b05-d6f4-408f-8ac5-e35f8a6fcd12 CLINVAR:42339 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd7f7ded-75b3-4967-a182-ad638916b483 CLINVAR:42339 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c3bb3f27-1cc5-4c25-b0c2-b89da3b31c3c CLINVAR:495594 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdfab3aa-83a8-4098-901c-738166d7ecad CLINVAR:495594 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cde7f07c-b879-429c-b49a-b178360e3634 CLINVAR:549173 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cf549c3-800a-4504-a8cb-f8e48e716c4f CLINVAR:549173 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 12ae67b9-06b4-4c66-b629-39c4a87fbb61 CLINVAR:547309 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 976c2704-c7c1-4228-8fab-3edb5c9b0016 CLINVAR:547309 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9586c5f-5b3c-4264-887d-274f59f9fa72 CLINVAR:263660 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10bb109e-b38a-4d02-8a2d-7a42dfc1bae6 CLINVAR:263660 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 825eb141-f70e-4b97-a476-c0249cbbae94 CLINVAR:549150 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87528e65-ecb1-4c94-bbad-b43f96661d03 CLINVAR:549150 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ad67354-bc5f-4093-8739-0c14ccdd58bd CLINVAR:431935 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 686e7ab3-acba-487d-b1bb-7c145f3de615 CLINVAR:431935 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cac2abdd-137f-446e-9735-71a492bc34f2 CLINVAR:915814 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07234f32-7087-42f1-8481-44f85ad8e29e CLINVAR:915814 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 70f0b7c7-aae3-49cd-a11e-8389d21898b0 CLINVAR:264089 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5b561e8-0dda-4270-b4ab-51735038a17e CLINVAR:264089 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 463bcc15-f7b3-45c7-80ff-08a55511b683 CLINVAR:2413175 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7714f1db-e437-4c16-82ea-8a67d0af3e10 CLINVAR:2413175 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d81166cd-b147-448e-97f4-a96627757e68 CLINVAR:549070 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 929948a7-b7f6-4a1f-a413-90a7de0e0873 CLINVAR:549070 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af917629-a2f9-409f-9a5e-ceb7a053de68 CLINVAR:519758 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3380836a-f8a8-40e5-8f6a-482019ab8be7 CLINVAR:519758 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d7dbda20-a1e0-40de-aba1-2491d8701f43 CLINVAR:2413171 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7901c3ee-49f7-408d-ae49-80b67c1cec37 CLINVAR:2413171 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 916eabba-61b2-47e9-848f-e12a71df8475 CLINVAR:495563 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60453c12-9e8a-4f7b-aa4b-2cc5819165a4 CLINVAR:495563 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51fdf7c4-4023-46c8-907a-a90ce150be10 CLINVAR:956400 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e164a876-aa83-4daa-bc48-991741b4f16b CLINVAR:956400 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46cbbd60-3541-4052-9d50-b0ac231fc6b2 CLINVAR:495558 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2d853aa-b1b9-4750-9d1a-8fd3b0469ff1 CLINVAR:495558 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1067f8e3-d100-4963-b436-11394fd9810e CLINVAR:549024 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ebd809e-384d-4dcf-900f-19139d17cb5f CLINVAR:549024 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51c70193-0125-4d25-992c-9e6c42e35b7d CLINVAR:406288 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d7abfe6-c465-4f54-aba5-32d1e52680e1 CLINVAR:406288 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 698a9438-1ecf-4eea-b6fc-0bdd563e1736 CLINVAR:502478 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7ae1bcb-d8cb-44a7-99dd-443854c54670 CLINVAR:502478 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 64b086e0-b5b4-468f-a62f-b6b8be4105c2 CLINVAR:549019 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c857c164-7d71-4c7c-8ba1-f80fe20541aa CLINVAR:549019 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3cc2a951-19b1-47a2-8dbe-6b869b4d06cf CLINVAR:16466 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6e5e33e-9188-401d-8cc4-bfd33d2e69e6 CLINVAR:16466 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57469b26-9791-4cf7-bc32-2197ca35bd81 CLINVAR:549013 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9281920c-2eb3-4f11-8267-95e5b4e0d960 CLINVAR:549013 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 817a002b-be55-4427-87ca-53558a4d3256 CLINVAR:636640 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4510fed-d77d-4603-833c-71bc7576a35f CLINVAR:636640 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7a872b97-b386-43dd-a3ff-7c2ab0eb082b CLINVAR:200177 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 997de90e-49fa-4d6e-9d1b-ae589b431102 CLINVAR:200177 biolink:is_sequence_variant_of NCBIGene:113939944 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68153336-96de-41f6-8d38-57f076eeeb75 CLINVAR:200177 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 561ec201-a65c-4fe7-ad09-9b5ce245a7f0 CLINVAR:549001 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8132ad07-6cda-4614-9e83-5c4db152f556 CLINVAR:549001 biolink:is_sequence_variant_of NCBIGene:113939944 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5c371c2-a2b1-4283-962a-7d244e891610 CLINVAR:549001 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 63d5d1d1-3cc1-4e41-9b54-469ad7e95ac1 CLINVAR:548999 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 002800bd-6375-46b1-bf36-06ca02521190 CLINVAR:548999 biolink:is_sequence_variant_of NCBIGene:113939944 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46e0d64f-2f5e-4086-bcdd-3d3bfc1bac11 CLINVAR:548999 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d7d0c3e4-2d57-43fb-9a1e-1cf4b43b1aae CLINVAR:549476 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf375dee-2de8-4e87-a8c0-f2894d4aed7f CLINVAR:549476 biolink:is_sequence_variant_of NCBIGene:113939944 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 529d217a-c527-4c20-8bc6-fd7038bfa721 CLINVAR:549476 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55d83fd0-10e8-4331-bdfe-3ccc9df79d86 CLINVAR:495662 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e197c1e6-914f-4e0b-8554-cdbcf3240af8 CLINVAR:495662 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 997de2af-2755-4531-a638-c89654147f8e CLINVAR:406374 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 847b8f3f-f56d-4302-8eb4-da5a3305943d CLINVAR:406374 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eeceb8cb-0e26-431d-83b9-5457904581f9 CLINVAR:426140 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 942692c2-4981-4078-8ff4-45b748eda965 CLINVAR:426140 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dfa0577e-73a9-41de-b7a3-02825933047f CLINVAR:222600 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70eb56d6-e454-4aae-a87e-7cfd45faa66c CLINVAR:222600 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ffb48d3e-f499-4a25-8744-aed57e995c4c CLINVAR:1380036 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e374021-5b8e-402c-a0e5-e94c0d149e0d CLINVAR:1380036 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9f4584ad-fc3c-4944-ba12-bfe3e7e13438 CLINVAR:495569 biolink:is_sequence_variant_of NCBIGene:2200 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b8f6832-685e-4d93-a015-1411273a7197 CLINVAR:495569 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5a7821a-9c17-4615-aa51-5725cd6e847b CLINVAR:44587 biolink:is_sequence_variant_of NCBIGene:5604 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7229352-c9e7-46a8-b3e7-5efb72f84390 CLINVAR:44587 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a769ed50-405c-46fa-bf91-4fa3160085c9 CLINVAR:1723651 biolink:is_sequence_variant_of NCBIGene:5604 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc54e836-38a6-4bd0-9aef-4c7542d8751d CLINVAR:1723651 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2ad4de80-ccea-4bf9-927a-bd8af5d5d5f9 CLINVAR:13350 biolink:is_sequence_variant_of NCBIGene:5604 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e23deb5-7db5-4633-bebf-0dbac371964c CLINVAR:13350 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8c5c51d5-01ca-4d33-93ba-57d3e15220d7 CLINVAR:40779 biolink:is_sequence_variant_of NCBIGene:5604 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94ad6572-7e21-4cda-be73-d5fd7b3667b8 CLINVAR:40779 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 11992c22-0c64-46c1-b393-6f268a8d34c4 CLINVAR:40781 biolink:is_sequence_variant_of NCBIGene:5604 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88bc3467-e882-4013-815f-826cf6228623 CLINVAR:40781 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a7ce484-655f-4df8-9955-26df8babd23e CLINVAR:44588 biolink:is_sequence_variant_of NCBIGene:5604 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0adb303-2112-4dfc-93a0-96c088c79e09 CLINVAR:44588 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fcd96b68-23a9-4945-a70d-92e3d44abb61 CLINVAR:280446 biolink:is_sequence_variant_of NCBIGene:5604 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0e357d3-6d84-400a-9f22-054fde8deeb8 CLINVAR:280446 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bee118fe-119c-4d1d-b641-df501d47e473 CLINVAR:228273 biolink:is_sequence_variant_of NCBIGene:5604 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3df6d420-5cb8-4487-b67f-3897a5a62f41 CLINVAR:228273 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 519e8a0d-655c-46bf-84e6-f1ebfc681f05 CLINVAR:375981 biolink:is_sequence_variant_of NCBIGene:5604 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 271001d8-9338-4041-af9c-694ddab523c1 CLINVAR:375981 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e9404eb-39ad-47b9-9a84-7780331f6dd3 CLINVAR:40747 biolink:is_sequence_variant_of NCBIGene:5604 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 375efead-a2fa-4d80-add3-ac6dd18aab2b CLINVAR:40747 biolink:associated_with_increased_likelihood_of MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 84f0189e-00df-4cca-a7f7-2c83ae63ddce CLINVAR:13351 biolink:is_sequence_variant_of NCBIGene:5604 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a01cb7f-af10-45db-988c-0a893371f2a0 CLINVAR:13351 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel edd6fb78-196e-462d-9ea8-e0a91b77b3b2 CLINVAR:167260 biolink:is_sequence_variant_of NCBIGene:5604 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6dab521d-3d17-4376-b736-037eba110e3f CLINVAR:167260 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6aa6b36f-60bb-4ef9-a863-8a9dcdfbd9cc CLINVAR:597808 biolink:is_sequence_variant_of NCBIGene:5428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 216aa324-3470-4cb9-a0a1-851e8508b24b CLINVAR:597808 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32ef89ef-d039-4cfc-9c6c-03851aa4da59 CLINVAR:21315 biolink:is_sequence_variant_of NCBIGene:5428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c88ef45-c4c1-49e0-bc7f-752922ea7b18 CLINVAR:21315 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 60ca3661-7d4e-471b-aabb-b9ef2dd03230 CLINVAR:285869 biolink:is_sequence_variant_of NCBIGene:5428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c49feed9-6741-466b-8cf6-02f339e5ce21 CLINVAR:285869 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 21f6dcbd-2cf4-4fb4-99ca-b8c719a9bee0 CLINVAR:426681 biolink:is_sequence_variant_of NCBIGene:5428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03be820b-1adc-439d-80d5-318d43b74e53 CLINVAR:426681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ac395928-4b84-47f2-ac04-c8337265fcb3 CLINVAR:426100 biolink:is_sequence_variant_of NCBIGene:5428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6961cde2-bba5-4b75-b222-bd863b69c81b CLINVAR:426100 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d9a5671-83ba-4d4e-bc67-e391f40be105 CLINVAR:566733 biolink:is_sequence_variant_of NCBIGene:5428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77997e17-58ce-4304-a989-3117dac025de CLINVAR:566733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 37087e09-fae5-467c-ba53-1c83b9e6068a CLINVAR:206560 biolink:is_sequence_variant_of NCBIGene:5428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5e8e2c3-5407-4233-ae67-8b901661c02d CLINVAR:206560 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5ad22946-58d5-4cbb-84a7-e5c402e768ee CLINVAR:206556 biolink:is_sequence_variant_of NCBIGene:5428 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d516487-3688-479d-b309-ac101ac835d1 CLINVAR:206556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e259007a-aaf0-4c61-8692-00585777cf6f CLINVAR:128144 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 958ed65d-500e-44ec-9cb5-dc137bb7b745 CLINVAR:128144 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fef6616f-fb0f-449d-a7dd-5fef24838c94 CLINVAR:126739 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c31c7694-f878-4a5a-a620-ccaecad55c4d CLINVAR:126739 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 59f47e0d-54dc-459a-b4ee-193c2b038316 CLINVAR:126737 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff97924c-442c-4e65-af10-a38b905e9a1c CLINVAR:126737 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cfbfa6c5-e4b5-49dc-abd2-d3bbc4c83049 CLINVAR:232594 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f349c825-20b9-4b4f-b311-a010e391fe17 CLINVAR:232594 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0e2b1023-80d0-46cd-8faf-f73e2304094d CLINVAR:126711 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6f743af-c71d-4df1-aaed-8284f6e9531e CLINVAR:126711 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 599f09c5-3624-4c47-96a2-f8dcfd2194b2 CLINVAR:1453402 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b319c26-6465-4552-9dba-b5279c41a066 CLINVAR:1453402 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52734d86-003d-4f18-a8f6-f0b8ce1e7d99 CLINVAR:126660 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a555370a-ef41-4e70-85b8-881d3e35ea36 CLINVAR:126660 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2292a832-5781-4192-9862-f7c17a1c3cac CLINVAR:186990 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cea6118d-79c9-413a-8172-2c899b43fcbe CLINVAR:186990 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55aad239-bbf4-4e0f-a288-bcecd4381727 CLINVAR:143966 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de405a41-ac12-4c79-834a-abcee9064736 CLINVAR:143966 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3a162205-97ea-475b-8041-949a4557cd28 CLINVAR:126609 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16c59e0d-5732-4c49-918c-caa723859b65 CLINVAR:126609 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8aff316b-1a39-4629-b2a0-a60ee6c79746 CLINVAR:480243 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f09b6b03-346b-4084-be75-285d27ed100f CLINVAR:480243 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2595fe1a-38dc-498e-afe7-276d23304957 CLINVAR:484222 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b54157a-8202-4a91-a4ed-f05ed070f361 CLINVAR:484222 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3254c362-6f6f-4892-b1d7-bb2b61d13acf CLINVAR:580962 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bcb5ebce-9396-465e-b64c-deeaa0308687 CLINVAR:580962 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c45149a-3e51-48ab-bbe3-905a5632708a CLINVAR:461007 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b8449e5-bebd-404c-8ef7-f8cd124923d6 CLINVAR:461007 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56f0260b-7909-4b53-9120-c66a74052e2b CLINVAR:818335 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31d1eb64-ec7a-475c-87da-76a79a0ee365 CLINVAR:818335 biolink:associated_with_increased_likelihood_of MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bf086f49-9955-4ba3-b413-a5e58292929b CLINVAR:241571 biolink:is_sequence_variant_of NCBIGene:79728 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e66aeeb7-dfdb-4ccd-8949-a84cbb327ca0 CLINVAR:241571 biolink:causes MONDO:0700272 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d26739c-252f-4017-8045-51ab89fd1124 CLINVAR:532457 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4040378b-774c-4dda-bcb2-aee08796ba2c CLINVAR:532457 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c8f998c-15a3-4c05-9379-11060efe6d31 CLINVAR:1292057 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab311e8a-6725-4ff8-81de-21c645c0713f CLINVAR:1292057 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f8d6dfe3-135c-4bb3-ac4a-e96c7c5b74cb CLINVAR:486826 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f297ec5b-54f8-4e1c-be83-4e11d9b60595 CLINVAR:486826 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46528f4d-67a9-4c46-aba6-4011ef539e85 CLINVAR:532474 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88fdf4cb-9288-4d6f-aa9d-0b3a992a9b46 CLINVAR:532474 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22f7d73a-90c8-44e7-8ba2-117a216adb12 CLINVAR:239906 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efebe5fd-770a-4607-be73-dcfa8167fe3e CLINVAR:239906 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad64ea01-4240-4e38-8778-1fab4e2d0709 CLINVAR:918853 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43fc02a5-a811-47a7-89e4-a4a81d08408d CLINVAR:918853 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b605375-208c-4d72-a2ce-84be26464e32 CLINVAR:548782 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fcf51c3-cfe0-4cdd-8915-453b8d1ef8f7 CLINVAR:548782 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf24e854-6076-4fd1-90e4-b1bc0461b2b3 CLINVAR:651982 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8bc1ace-d16f-4056-af27-6ef3efc9443f CLINVAR:651982 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fbb98cd-0211-44ba-a839-1458d3f869a8 CLINVAR:449341 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36ec0031-cdcd-474e-9580-f92f5ba998f2 CLINVAR:449341 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 69e32850-4734-4795-95d9-d7bb06756d17 CLINVAR:406631 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d593e14c-32e2-45b0-8297-001e8374b89d CLINVAR:406631 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f928ba6d-86b5-4133-909b-65de04d7782e CLINVAR:12239 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b94baf2-bce9-4ac9-a1c7-098df8e1ca17 CLINVAR:12239 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d35bf2b9-7975-4cf4-a1bc-26278e79d1e9 CLINVAR:187239 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27755c29-8506-4443-99a6-d93f0075d15f CLINVAR:187239 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 839227a1-c29b-48a0-a6f9-1c80ad540a1d CLINVAR:12240 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7485e2d-374a-4879-9208-53fb7d9062f0 CLINVAR:12240 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 69dbaade-b369-4c92-94a2-5bad0e5b7795 CLINVAR:183750 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c80de050-e43f-4120-bbeb-f177bd30fe9c CLINVAR:183750 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac81403a-a41a-48fa-918d-d2d5d1d2ccff CLINVAR:230956 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfc78287-7d2f-416b-b202-d6f9b3e6d939 CLINVAR:230956 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44245680-89d5-43b4-bdf5-32d4aadea6c9 CLINVAR:156496 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03d1ebc7-72ba-438d-95ff-f5b1d5c2684b CLINVAR:156496 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33e3320b-2058-403e-9d6e-dfe6a748c070 CLINVAR:185408 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 685681f3-af4b-4891-81e3-95f29dcbbd1b CLINVAR:185408 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a88bffb-ef46-48c2-b306-395d5bb1efa4 CLINVAR:463742 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0304848-24ad-4ec5-ace4-a5ff6ed12915 CLINVAR:463742 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e0dcadf-3066-4e32-8e9e-de1693d263e1 CLINVAR:239891 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2a67c57-e185-479b-b9de-d4edee24fa8a CLINVAR:239891 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1144542-e9b6-4813-bdfe-f7dd7b92b218 CLINVAR:463772 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 132fbf51-0214-4fe5-9bd7-fb111c64ca9e CLINVAR:463772 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0a930a4-9f8b-49bf-86e8-4bac5dd77cac CLINVAR:463775 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d559662b-72c8-41f9-8db8-de64ea278276 CLINVAR:463775 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4b90b71-cdea-4090-b38a-a572f873e990 CLINVAR:483227 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28349a4b-e41e-47f0-90cb-fabc7bd0a5d5 CLINVAR:483227 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57883e4c-7a9d-4958-9d82-c930e11e3143 CLINVAR:422315 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c976a923-6843-4bd5-8e5e-15e71ec7cc80 CLINVAR:422315 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c349ab7-ec08-4b0d-8c82-ab9186032f00 CLINVAR:234594 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44a11760-a813-4e58-bb58-53383b31ef82 CLINVAR:234594 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0dd0f54-4dd7-492d-abee-37d48bec7888 CLINVAR:239903 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27eeaaff-9124-4b03-9a22-a500df82f7f6 CLINVAR:239903 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03db94d0-92df-4eb2-9f93-ec85ae60237d CLINVAR:567576 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8034366-d271-490b-a28f-476cb4abf894 CLINVAR:567576 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel adeed2dd-a9cc-4892-982f-425a387cc4a7 CLINVAR:406616 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf8134b3-04f5-4650-8cf6-27a8657e73f3 CLINVAR:406616 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b01da980-2452-44e8-ad50-3d77874b1168 CLINVAR:486824 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6eb5d52-6d48-4dc1-a9ab-50db75a00fe3 CLINVAR:486824 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2072dfe-95d7-458d-b1df-b945a59960ce CLINVAR:491536 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d962d49-400e-46b2-81ba-6dfe640ad134 CLINVAR:491536 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3a9b1da-3a43-4c5d-87ac-e054f42f15d8 CLINVAR:428626 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d91dcefa-91c4-48e4-a31d-b80ee4cd6752 CLINVAR:428626 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4820122-6e98-4313-a621-a1751ad75570 CLINVAR:545785 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02e08a34-d21c-48fa-8dce-4278e3e5a5eb CLINVAR:545785 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13dfbe3d-abcb-4e15-a879-c75b1e6d03aa CLINVAR:491537 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc1a28cb-9b94-46a7-ac75-a7747965a4f9 CLINVAR:491537 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6fada351-b843-4391-92a6-810b53fdf132 CLINVAR:491538 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1b6bc21-3364-442e-b2fa-f1deb846bb18 CLINVAR:491538 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f66edac-c01f-4cc4-815f-796d1c6052a8 CLINVAR:569046 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 133b8e38-b963-4494-ba33-0aaff6becd13 CLINVAR:569046 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b6b9730b-bc06-4340-987c-288852f71f7b CLINVAR:463781 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f82b66bb-fe77-4edf-a323-a193f840fb99 CLINVAR:463781 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 278b7737-92f5-4c2d-ab32-628764a52008 CLINVAR:234595 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cf555ac-4f6e-4673-8eaf-931412c53019 CLINVAR:234595 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c677bc7d-4c88-4443-8eb4-d987cd3f520b CLINVAR:479524 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03890822-6282-4939-8464-1f12946a4fcf CLINVAR:479524 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01065678-e3e6-4993-a3ce-cca1a29ce115 CLINVAR:420004 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eeb51cdb-ccc3-46e1-81a4-a8a8f2c2ecc3 CLINVAR:420004 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f693803a-731d-46e0-bed6-2df957ff065b CLINVAR:220776 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a4b5c44-9676-4d4d-9508-d8a4e7d1e0d1 CLINVAR:220776 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8bb5b544-668a-47be-a7b5-2459e703bfbf CLINVAR:140803 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d640621e-7730-4523-88aa-eef5fd58719e CLINVAR:140803 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c67ef260-3034-4e62-ba96-8084f00e1f86 CLINVAR:481011 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0310172-3940-4e54-bb7b-eaa17fabba3c CLINVAR:481011 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63367617-857b-417a-93d5-e01522bf1a32 CLINVAR:428618 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 038842b0-8644-484c-8b50-3720dc9b231f CLINVAR:428618 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 02261100-470c-40f8-a9e0-16010dda5144 CLINVAR:406644 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50278e5b-638c-4ca3-a763-25dd1e0368ab CLINVAR:406644 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c629c87d-1aff-4874-9136-3d044e250602 CLINVAR:485476 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9c84d45-cc81-4df0-9208-b633d52a8686 CLINVAR:485476 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f98cd3cd-c149-465a-a9e4-8130ca96805c CLINVAR:428620 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 989c1dc1-4bbb-45a1-8025-ace048b1b2f2 CLINVAR:428620 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ccf8388-f7ac-4586-b179-01712f620e60 CLINVAR:488647 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de2a8dfd-5fe3-4e45-82b4-6bb94d883f4a CLINVAR:488647 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4babea61-2633-442e-a5a3-13bf91ce036b CLINVAR:567608 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 000b5999-8933-45bf-81cd-1a50c3370cd0 CLINVAR:567608 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3db0d9d7-d636-42eb-a24f-58f4bdca6e4b CLINVAR:406615 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a8c4720-5ec4-47d7-8c44-76a71cbe7ded CLINVAR:406615 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8575d7d-056d-46fa-b0fa-b0fbc2ae81a1 CLINVAR:182393 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac30687b-aec1-471c-9a42-ef66d6de7764 CLINVAR:182393 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 446c456e-ffe8-4102-8346-0337c63103a7 CLINVAR:132709 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1aa0881d-b26c-4c81-93aa-c3da40480746 CLINVAR:132709 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c55a781a-72e6-43b7-be75-aff376d2b5b5 CLINVAR:428631 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f081540f-e74d-4d67-b64a-b516cfe7a6fb CLINVAR:428631 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d702a39d-a3db-41b2-ade7-61b77c63a786 CLINVAR:12234 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2573c6b0-2717-4098-94fe-c82104737f3e CLINVAR:12234 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc28e885-9517-449d-bd00-e251ed427f93 CLINVAR:406633 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f56aac0b-4989-4616-8374-aa662debd669 CLINVAR:406633 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f5a54c2-3bc0-42b0-91d4-c5a1591e6a6e CLINVAR:463795 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 276c3ac4-6003-4c40-b49e-bc904eda4272 CLINVAR:463795 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ec8eeaa-f3c6-494d-b069-36fb00df5846 CLINVAR:239914 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15586800-0062-46b2-9eb2-ea2ba6766b61 CLINVAR:239914 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca3374b7-4d2e-4751-9e7a-1fcd8cea6cdd CLINVAR:239915 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3050b58-a9d8-4f3a-8985-6b518f326513 CLINVAR:239915 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9eda1673-3695-4bb2-8d81-791d94aae5da CLINVAR:439045 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9acf3f8c-7851-4821-8041-208f46b60d84 CLINVAR:439045 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33b48742-d062-448f-9b48-ab2d551d28e4 CLINVAR:428632 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12327bbd-64b0-40e5-ae34-210ab4f220a3 CLINVAR:428632 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3adc5dfb-90d3-4fa3-bea2-6f1e12b14f93 CLINVAR:136055 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e59c4896-f13d-4a45-8ae9-3d9400e81bdb CLINVAR:136055 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56c51ea3-f502-42f9-8942-9c80805ce31f CLINVAR:231647 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bdafa86-93f9-45a0-aceb-d956994f1ae0 CLINVAR:231647 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3fdaaa31-bc2a-4fe1-8fad-d4f32872b0bd CLINVAR:18453 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aed7f377-4ccc-4c93-902a-b5140e92a5bc CLINVAR:18453 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9731c18e-6c0d-4a8e-b16e-b9c2f253e3a6 CLINVAR:406652 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27ac1754-43dc-4e3b-a6c9-eac4ee3db9a9 CLINVAR:406652 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aee451c4-cfce-4404-81b2-71032b786d9c CLINVAR:183727 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1be4a34f-af29-4390-9529-61bcc838ad92 CLINVAR:183727 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e04a31fb-6d4f-44d5-a9a8-ecc57aba5581 CLINVAR:156374 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f9dbe5a-a19d-4bac-bb0a-22d56887dd90 CLINVAR:156374 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe3f79b0-86fb-49e5-9701-505582170bda CLINVAR:449922 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4a3e493-65ba-42df-80c6-9d0b11299025 CLINVAR:449922 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05c335a5-b351-4164-8cb5-4ba004fb348a CLINVAR:532473 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35b80740-8491-4530-85a8-2185d98ba590 CLINVAR:532473 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae5127a4-398b-40b4-b7f9-655bfd082188 CLINVAR:234571 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54a98164-eada-4ea9-8b81-fa95ab33d1c2 CLINVAR:234571 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 27322a7c-be41-4d15-928d-69463e77dae3 CLINVAR:224528 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6982f18f-2ebe-4c91-898d-90189db42767 CLINVAR:224528 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a56fe8b5-22ba-428d-b37d-433b237bf4c1 CLINVAR:483264 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4c0183a-bdd8-470e-8f05-7f123d5e7254 CLINVAR:483264 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06bae6b9-2815-4743-8d90-0c135150a7e2 CLINVAR:578952 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63f442da-0a3e-49a3-9359-7551d9c2752d CLINVAR:578952 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4ff2e93e-1d60-401a-a652-d1efe5cad576 CLINVAR:428623 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2ed62bc-df20-4075-bae6-59f008770c13 CLINVAR:428623 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb3cb4a7-9a22-4476-9ab2-0173a3454226 CLINVAR:231923 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdd493e7-694c-4fe8-86a1-7175e4805eba CLINVAR:231923 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ee355fa-2595-45ab-9365-6e82bae48670 CLINVAR:156499 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b3326bb-0b27-4afa-8e80-0ac538e55765 CLINVAR:156499 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f0b8d50-927c-4881-a852-0a84f52cc78a CLINVAR:599655 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce301bfb-13fc-494e-9a3c-8363c7ba1d6a CLINVAR:599655 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1f012542-b857-4b1e-80a4-3eb12158f4b3 CLINVAR:233979 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c64e0519-0936-4d52-ae96-b75078258a2e CLINVAR:233979 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f987a122-f48c-46e6-b506-b23db74099c3 CLINVAR:186267 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ecf27c35-4b69-4ab4-8f94-984dfb4fdb99 CLINVAR:186267 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 672fb307-181f-49d8-a6f2-e39b105ce3b2 CLINVAR:142888 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d390bef0-60ad-44e6-8571-6fa39f15eaf2 CLINVAR:142888 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d289e7a5-8fa5-4d08-8564-9d696e41c618 CLINVAR:574672 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c011092-3b3c-49a7-a9c5-c21c54ba2905 CLINVAR:574672 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26c8c663-073c-4efe-8d33-2d61655cbf2e CLINVAR:428622 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6bc4e86-0806-49cb-821d-be78a44872f0 CLINVAR:428622 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23ba0509-5925-4c10-96a2-d55b545a50d6 CLINVAR:545807 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84d39b20-383b-4183-9093-35cb7340c95b CLINVAR:545807 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3cb336c8-7805-4ce7-9886-ac1ca54555c0 CLINVAR:265635 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b14f43f-f73a-4591-918c-d6c7c9cfed80 CLINVAR:265635 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1ebe84cd-8590-4cb4-bf93-8190bbaf54b7 CLINVAR:439040 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76482299-fbff-4902-8352-3801f63ee589 CLINVAR:439040 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ea8c3c5-3bfd-45bf-a6e8-0b568c15687e CLINVAR:265543 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf259b56-ecc1-4963-b559-ce5be6f3db49 CLINVAR:265543 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a199f60-9a8d-4e39-b362-d93747f6b71d CLINVAR:483271 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7fad74b-86cd-4ba3-952e-aad9d3150c26 CLINVAR:483271 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e05928f-3c13-4f98-9495-172dcbcb7fec CLINVAR:428633 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f3de874-9bd7-4c5b-9620-eaca37a0a7c7 CLINVAR:428633 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8c40d96-3f50-47af-b96e-1d937b275c0c CLINVAR:491497 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2bfd3d55-3898-49c8-b102-0ff7ba98a2b6 CLINVAR:491497 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c6ecf3f-a3fb-40ba-80b9-d4a582a28ebf CLINVAR:567085 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd80a957-dd0e-4b5e-ab9d-8ade2a01cd57 CLINVAR:567085 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f753bdf5-49b2-461c-91a0-647a55ea2bf4 CLINVAR:231528 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd23a1ec-2709-47b1-b93c-0b65fd3cc5b5 CLINVAR:231528 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b209b54-bbc8-4927-ac52-bd1f8d7df4e8 CLINVAR:485481 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ecfd2034-8f84-48da-be80-7815db3f9b7d CLINVAR:485481 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b2855f7-bcb1-4951-93dd-a02e7f4bf2d4 CLINVAR:229907 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de842445-f268-482b-8c5b-5c2e1725f22b CLINVAR:229907 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04ff64f2-c308-4d5e-88f0-6e6b4c160669 CLINVAR:224529 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2147b86-f60f-42a8-af35-a15c761a679a CLINVAR:224529 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0cb4d800-000c-4e4c-9955-e745ba7e4644 CLINVAR:428621 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11ef54ad-a813-4727-9cfd-3b8a0da3e06f CLINVAR:428621 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4e1a009-8012-4585-93c4-3bb7297e5a55 CLINVAR:421639 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e2d53e6-99d5-4452-92a0-3350ea014a24 CLINVAR:421639 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e3de49d4-290c-4d8a-9b85-82e58d516a28 CLINVAR:127915 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7c0f572-3271-414f-95c2-1cc3bc46d4f0 CLINVAR:127915 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0f1fe14-f16b-4d70-9d71-65822e17bdbc CLINVAR:406622 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e73a149c-a2ae-473d-81aa-2cb341c09e5a CLINVAR:406622 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b936f88f-b48e-4050-8669-cc62d4abc9d7 CLINVAR:406624 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae77bcc0-8694-490a-a6b7-8fbc324f9892 CLINVAR:406624 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b62dc3b7-f70a-47c0-8f04-d304da2d17e1 CLINVAR:141206 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84cd99a7-ca87-44ba-b8c4-d6d1c177e4c1 CLINVAR:141206 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47249b67-bff8-4977-9ec4-965e9e899a09 CLINVAR:185005 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc666d6b-98fd-4de2-9580-a876def29da7 CLINVAR:185005 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 23c4df02-310c-4eb6-9ed8-8fe9d97abac2 CLINVAR:479518 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2bf2cebc-04fb-46e8-8309-631b33246941 CLINVAR:479518 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c574030-3731-48f7-b698-a7d9207c8b44 CLINVAR:265511 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14fb212a-b334-4330-888c-2899faf2952a CLINVAR:265511 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a2628fe-e972-4c15-a51b-d2145af6b7f9 CLINVAR:422539 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbb06ddd-c012-4ea8-b95e-551d52d3d326 CLINVAR:422539 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf718c6a-8f8f-447f-a782-70c5335b9caa CLINVAR:449339 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03cfcac9-f487-4190-9333-b831579e5ed4 CLINVAR:449339 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10048903-dc3f-47e2-a2e0-a005fbb67fad CLINVAR:437928 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d0a253d-4859-4256-9304-cf60bf0ab151 CLINVAR:437928 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56116edd-4ab1-42ad-9f35-b3746778d0d2 CLINVAR:481028 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae8aa850-4ba2-45ff-b391-f370a692cce3 CLINVAR:481028 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6919994a-c688-435b-8d6f-ffc46e08459b CLINVAR:479514 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43a081ed-f4c9-49c1-8c41-cf418a73f0d4 CLINVAR:479514 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c78dc757-8640-4526-8567-c27114c5af84 CLINVAR:234554 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 255f7d15-bac9-4d51-9ccc-2ec0145bee12 CLINVAR:234554 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf580bf3-3d07-466e-845e-7bafd97b33f1 CLINVAR:428619 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c7ba0b9-a91d-4db8-815b-be3b7eb9bd9b CLINVAR:428619 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ae195601-aaff-47b7-a7fe-9896db6a4316 CLINVAR:186618 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ced48ad-11b0-40d6-8ec1-f4ba51782372 CLINVAR:186618 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b90dc641-a043-4289-a132-fc085d90458f CLINVAR:428628 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b71adaeb-21bf-44c9-a0e5-ec610499ff13 CLINVAR:428628 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7559914a-4761-407b-8637-c498c15a8bb1 CLINVAR:279747 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6efb8b74-58d9-49b7-a876-7b5a719a87af CLINVAR:279747 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ebea6636-5246-4820-a6d1-f8168f2ee0d0 CLINVAR:545756 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7aae8f17-7496-4883-ae06-15eb2df63ac8 CLINVAR:545756 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51497e8e-cc1b-4288-a6f6-cf3af034dec4 CLINVAR:428629 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a925fd5-ebef-4ff1-ba82-7e68edd05c95 CLINVAR:428629 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a83ac12-b701-42da-b2a2-363aa0af3834 CLINVAR:234610 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a61eb085-e931-42f6-aee7-1dcf976260b2 CLINVAR:234610 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41a4b81f-1c21-41e2-8e77-bba13503551e CLINVAR:12241 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80283775-84e0-478a-8484-ca4326e896c5 CLINVAR:12241 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 037126c2-bcfc-42f1-acb0-95a18a186aa6 CLINVAR:406628 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04f40950-5c60-4a53-a6ff-af02bbfd2924 CLINVAR:406628 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e93fa58b-76e4-440b-8a27-b6e81ae27f94 CLINVAR:599651 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9c59254-1338-49fa-bd13-94dcfed8f800 CLINVAR:599651 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d12f4e7-50cd-4ea7-9aca-40c39ffe2701 CLINVAR:532477 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 606361f2-fc3d-4010-86bd-9028effdeb92 CLINVAR:532477 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e169dec9-bad7-45fb-b630-6a4b28097d7e CLINVAR:142826 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e41216bf-31cb-4af2-a1dc-465783c7fead CLINVAR:142826 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b2a790f-efc1-424d-8055-a84dd0638e28 CLINVAR:463735 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb5960b7-87fc-4fba-899a-833eca46c7c1 CLINVAR:463735 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7705c36f-7c58-46fc-9595-5feeb6f0c547 CLINVAR:463736 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce5227cc-badc-49f1-9033-0c63de7db41f CLINVAR:463736 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3413a8c-3a83-4a65-a73b-bb3ce7181aa9 CLINVAR:483276 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 779d8c7d-b163-48bf-9d4b-b66ac15d8733 CLINVAR:483276 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4135afbe-582c-4f50-a4d2-1aa2f40ee4e6 CLINVAR:182376 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9dfd2366-5098-4b47-99a2-e2af7171f9d5 CLINVAR:182376 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 126bcaef-ab9d-4bd0-851b-293e753851e9 CLINVAR:573147 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc3cfbaf-8e81-43d4-a94b-42abc3686ce9 CLINVAR:573147 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3f6c0d1-97f5-476c-8038-3d858d5bfca9 CLINVAR:185252 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40f0c480-1850-4e8a-925f-712f9eda2689 CLINVAR:185252 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed988d26-b560-4f7e-9e0e-3bcae1540042 CLINVAR:483251 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68bf489e-b4fe-468c-95ce-e6555e29a2aa CLINVAR:483251 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da4262b6-d8c6-4dae-9232-b6715f9dcb7d CLINVAR:140781 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed54888e-9e13-4d0f-80f9-60bba8c096d7 CLINVAR:140781 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 553eb176-ef2b-4287-bd53-24760a67b0d0 CLINVAR:1292056 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e23bd84c-2fad-46d1-acab-82de4864f942 CLINVAR:1292056 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9f87cc2-7e18-457d-a1f6-d75e46182a7b CLINVAR:12237 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1aa2473e-0692-45cb-a872-49e97381ebcd CLINVAR:12237 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68ad05a4-e443-4b50-85cd-0ee6dbee1e5e CLINVAR:492677 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f833b3d-f920-48b3-a8a9-fb7e6cc3e587 CLINVAR:492677 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbaa14f0-d1f3-44d7-9ca8-1d1521bfedaa CLINVAR:463743 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af62e412-5979-47c2-b1d2-8e9ba9291dd4 CLINVAR:463743 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e47788d-2f6b-40c6-8a79-0ca5c1925685 CLINVAR:491520 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 739ae3cf-a766-437a-ac36-4529bf6b0986 CLINVAR:491520 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 156f9835-178b-434f-8d24-f8c2e8a31f6b CLINVAR:532459 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcf82b24-3312-4ad4-888b-ac72f682dd50 CLINVAR:532459 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 48634e32-4c87-456a-ba2a-9924ca64e751 CLINVAR:406663 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2308e5f-a9e5-4b85-ae6f-10f96e46e88f CLINVAR:406663 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5c4e320-c6d0-4b1a-94ea-fc083901290a CLINVAR:599653 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e2556f2-0aaa-455c-865f-25017082dae5 CLINVAR:599653 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4bfec2cc-16ad-4242-8bf5-c78783a4b60f CLINVAR:532441 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 256e87d7-1411-4a8f-bfd9-52f810b064d1 CLINVAR:532441 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21d8711a-2027-4756-bfee-87522fbe5bd3 CLINVAR:545738 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e8298f0-25bc-4d41-87b3-2bd414387ce9 CLINVAR:545738 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 909a67b9-89da-4ecd-a620-243404e9c25c CLINVAR:136065 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65099d00-d73b-4dce-8cf6-983f86bc8dd1 CLINVAR:136065 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 720cdfee-a9f6-49e2-b6ce-15378f59ce90 CLINVAR:230451 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a96d285b-ed6c-4284-8a35-76b4d0202aa2 CLINVAR:230451 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f59a0819-3ff6-4998-bcd3-115879b3dc83 CLINVAR:233417 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38d77134-8e4a-4a94-ac65-47e28a3f09bb CLINVAR:233417 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0e9b165a-5479-473a-8c28-0d9e55cfac7e CLINVAR:371806 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b33cd3a4-3d56-4acf-a39c-07a7e449a560 CLINVAR:371806 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 698f62e0-9460-48be-8dce-b42869c92942 CLINVAR:428624 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea9beafb-79f2-4038-a9d0-ca8a081f80d9 CLINVAR:428624 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd6e5817-616a-4844-9719-284ac3eb8067 CLINVAR:406669 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f861be87-c3b0-4d25-b55d-7f22847e9496 CLINVAR:406669 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79677618-bce2-4638-aeb0-10d1dcd510b4 CLINVAR:12236 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c665b703-7763-4913-9fd5-5251402c2a37 CLINVAR:12236 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0b8611db-d3db-4ad9-adb2-0eb6c2511c3b CLINVAR:532446 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8031baf-3956-4708-93cb-e6fda07fd53a CLINVAR:532446 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 347b0539-86cf-4490-b1bf-387372969366 CLINVAR:156497 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a69e3ac-beb1-4357-bedc-b8fb232db66e CLINVAR:156497 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 828f7360-40f6-4853-af50-e76b4d0a52c7 CLINVAR:187464 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6bb4817-4717-437a-8c72-39978a48cd08 CLINVAR:187464 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ede693d5-dc3b-44bb-a0bb-520f52871e83 CLINVAR:142905 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3f40932-1e43-435c-9493-34caafddadc1 CLINVAR:142905 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8b8178ea-012f-445e-bc6e-4af07763088b CLINVAR:496817 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b210393c-518b-489f-a4c4-9aae446e6265 CLINVAR:496817 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e0f2e083-3054-418e-91c7-45bfc30d513a CLINVAR:496818 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70e49525-68ab-4c09-a714-9bf376267ed5 CLINVAR:496818 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e8598d7e-3997-4eb0-98d3-977d15f5e60f CLINVAR:481178 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6748ad26-cd8d-44ea-961f-da780aac41d4 CLINVAR:481178 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b6d8fe24-f8e6-4813-9106-f7007211c220 CLINVAR:428634 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51c4044c-f795-4b4f-861e-67b869182009 CLINVAR:428634 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1ecce4bc-a632-4d96-973d-e6acc1764559 CLINVAR:921477 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78d1ce0a-a52b-4dd9-9358-a20c5dd502c9 CLINVAR:921477 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 71dc2145-cadd-464c-929f-d7f8ba4d1de9 CLINVAR:479504 biolink:is_sequence_variant_of NCBIGene:999 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7eead531-2728-4e26-b87a-82fdcebfcd6d CLINVAR:479504 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 171cd3e5-cb49-4ff9-823b-57a2c4608f71 CLINVAR:4538997 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a3249e5-7978-4e8c-9501-97ed4f4622e7 CLINVAR:4538997 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0d906c88-14ab-4d2b-a499-d6921b6cb65c CLINVAR:4849259 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6418343-90ae-4495-9fd4-fd2f34754665 CLINVAR:4849259 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f72a7609-b6ad-4e35-85ab-599e84344567 CLINVAR:523620 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1056681-2618-4539-a1f9-5657a44d0cfd CLINVAR:523620 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 364250cd-0290-48d2-b74d-4cef070cf014 CLINVAR:4849254 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ce263fe-63f1-43fe-9667-125dbb044155 CLINVAR:4849254 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 084130e4-3f57-44e3-a51a-3f3183931a56 CLINVAR:2736403 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5eef883d-9d53-4ce5-817e-4c6bb8f93369 CLINVAR:2736403 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 57eb4893-3c34-40a2-aa36-41e69bcd64fd CLINVAR:4849255 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef16de4c-b15c-4577-bc66-904a60e755a5 CLINVAR:4849255 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 53da90ae-8e2a-4d1a-9808-fd2ffc176450 CLINVAR:4087787 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7111550d-ea0b-4e50-8082-75519805b514 CLINVAR:4087787 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d113df63-5c38-492d-b501-5780dca35be8 CLINVAR:1677212 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90814b5e-498c-477a-8f3a-c33e4beb9411 CLINVAR:1677212 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59a703c3-a204-4e11-a686-e2e217d4796b CLINVAR:4087786 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc7e8874-6379-42de-9e7c-4be37d4b68a3 CLINVAR:4087786 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a8c43dad-20c5-4a04-8c83-8a09a8122acb CLINVAR:4087785 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ead85be-7a4f-4370-b417-a0d6ee10cf16 CLINVAR:4087785 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ff2bd8e4-2f38-4f70-92fd-e63203ca0ffc CLINVAR:4087795 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43d3f9f7-e3e8-4735-a513-915efd9af8e5 CLINVAR:4087795 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b0f0f756-6205-4ddc-b906-4adcc0c8d02f CLINVAR:4087788 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a22b8ee8-b925-4572-a740-7e0f16028de1 CLINVAR:4087788 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4720e254-cd32-4797-8e82-178651dff996 CLINVAR:4849253 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4276bcd2-e632-41a4-990b-31e9b0032b55 CLINVAR:4849253 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d0a894d0-880b-4c0c-ad61-7de17f2a8d5b CLINVAR:1684365 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36dcf8af-efd8-4912-8107-502c81878abd CLINVAR:1684365 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 87b6011f-c7b6-4c37-b716-f7a59d6187a9 CLINVAR:2736404 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5868826-0d08-4e17-a9b6-8b13bf45dfc1 CLINVAR:2736404 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 828077e6-8188-42bd-9ee3-1499c60cf414 CLINVAR:3582323 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c52722ca-0923-47ee-aa7a-7456b6f35ca3 CLINVAR:3582323 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 043260ad-40fc-4573-b28d-b4c96af429f7 CLINVAR:4539002 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d95ef150-cfe1-4df3-be52-cb1caa59dbc9 CLINVAR:4539002 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 398a9ff3-8ceb-44e3-a6c7-5d87c956331b CLINVAR:435347 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34e7c96b-79f2-4063-9a25-634cc4e1b2f1 CLINVAR:435347 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2fa77c7e-ce1f-4356-ae5f-44d25cccea6f CLINVAR:1031446 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e32474d1-7b0e-4d40-a644-f9510dd7d012 CLINVAR:1031446 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ad04aa90-5b83-4a16-ad4a-683e87cd3d05 CLINVAR:4087790 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea407936-2ec3-49a2-8c0d-eb3deb5a0484 CLINVAR:4087790 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dc8c5a40-2aa7-4a7e-bb0d-98cd6c4c92d4 CLINVAR:4539003 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44130796-f8ab-4198-91d2-70e12e201731 CLINVAR:4539003 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c3886a62-53e4-4927-a5c2-3303cfd64a9c CLINVAR:4539004 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 394c2934-c72c-488c-bedf-aa053e5152ca CLINVAR:4539004 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 45a2b8ef-38e7-4442-92e3-a40390745c76 CLINVAR:3775062 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9478587-3c86-44a5-8299-618395a84e15 CLINVAR:3775062 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel da6e167a-2253-4040-a529-3c10a1140ce5 CLINVAR:4539005 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f62880fe-6f14-4728-a2bc-67ec3dbe2211 CLINVAR:4539005 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5b374520-5209-48d9-ac12-21f1250f7d47 CLINVAR:3251584 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bbdba38-6dc7-4395-9610-00f0d7430d86 CLINVAR:3251584 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 28b076d3-ef47-4f43-8f23-7d79cef99585 CLINVAR:4539006 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18541f01-5120-49bf-8860-84f56ad5e098 CLINVAR:4539006 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4b4728a1-8f47-4ef3-9aed-e5289663a282 CLINVAR:4849260 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1dd5202b-c0e4-4cef-a985-3eabf54f4c02 CLINVAR:4849260 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4b33e020-0354-4fb7-aaaa-bd4ea1bf815a CLINVAR:4538999 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e0110d6-1118-4a83-af88-ee7d7b9400cf CLINVAR:4538999 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b127eb68-29a5-47af-b885-3fe6942b8abe CLINVAR:3775064 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a77da764-4696-416c-8e39-cc85156503f7 CLINVAR:3775064 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 60cf0309-1b74-4ba6-97bd-db13ec1ead29 CLINVAR:3775063 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08771041-9032-41a4-b71d-295388af178f CLINVAR:3775063 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 406982d8-2c4d-4f3d-b98f-cb4f967f84c3 CLINVAR:4849257 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81dd3998-981c-4e54-b389-22005f175493 CLINVAR:4849257 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3495f347-d7d7-463f-ac9e-23007a508dea CLINVAR:4151 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e90634d-0216-4814-b6ee-a03aaa3f5dd5 CLINVAR:4151 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3dc16d26-ea92-4f32-b9c5-aab242d895a9 CLINVAR:4849258 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d4afd4f-ecf0-4eb9-9f97-1af25a1bc9b2 CLINVAR:4849258 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 024bd7b2-990b-4e37-9a9a-3633f929fe48 CLINVAR:4539000 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68e73ff4-8924-4767-b74d-197a5efb4431 CLINVAR:4539000 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8cc637d0-ac88-4b5c-a6fe-4013a630597e CLINVAR:4849261 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e072f9c-4470-43c9-a9b9-0cad3b748bd2 CLINVAR:4849261 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 64d5242a-6683-4bac-89e4-b518b792dbec CLINVAR:4087791 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d37702a-42f5-4a7a-b7c6-f34029f0a5c2 CLINVAR:4087791 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 16384fda-483b-4f6a-9451-b3294eb25a41 CLINVAR:2137887 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6c269ff-bcda-4021-bede-7797dab922a4 CLINVAR:2137887 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9207cb6-f14c-4dd3-b928-86355841ba38 CLINVAR:4539001 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 039dd04c-5974-40b3-87c9-fcdf06266efe CLINVAR:4539001 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 88cfb9cf-89a8-45cf-b52f-3d07873ed7e3 CLINVAR:4087792 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e244e7ec-7254-419e-9f3c-2b0dfc2f5879 CLINVAR:4087792 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel daba3fa8-1c44-44d4-93ad-8902e61054af CLINVAR:1691251 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1969b8c4-17e8-46e2-b491-727a7c83ee04 CLINVAR:1691251 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c8b5e633-cfb4-4ff1-91ed-0c1705423f62 CLINVAR:4539007 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 664630ec-eff9-4c77-8cc8-9fb9228a4d16 CLINVAR:4539007 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55a04322-ebb0-4850-8a77-d391c371933b CLINVAR:4087793 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ef31ae0-2320-44c0-b288-19e3251872a2 CLINVAR:4087793 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 69a750b4-ad01-4ff8-bb79-ff43c0f02422 CLINVAR:872581 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e11bb0ac-8111-417b-9439-d52612a5b7bd CLINVAR:872581 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aeb99a5a-d27f-406f-91ae-ae551e93928c CLINVAR:4157 biolink:is_sequence_variant_of NCBIGene:2811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da424937-f677-47b9-be37-5f651ffdd0bb CLINVAR:4157 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b98911df-1c6a-41f4-8b73-7eef2c33f752 CLINVAR:5566 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8116bd1a-7e76-4445-9894-8dffc4dfa38a CLINVAR:5566 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cebb233b-4e51-46bb-a2ba-c15afff09e56 CLINVAR:5565 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 657ad541-0ce6-49cf-855d-ec168b7221c7 CLINVAR:5565 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af6b1edc-a3b9-413c-8815-7b893e0c2605 CLINVAR:2736405 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5d67cb8-2415-4b15-91a6-5d65d2d8adee CLINVAR:2736405 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3f7639b-18b1-48cb-9d8f-8555e78ae737 CLINVAR:65711 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 831f9b5e-b010-46a1-b15a-57a1c6b456e0 CLINVAR:65711 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de277d2f-f712-4513-988e-1610a32674e7 CLINVAR:1419404 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d15e74a5-a0c7-45db-ab8f-45abdc16eb71 CLINVAR:1419404 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c102f271-5afd-433c-be77-f09811d4d6f3 CLINVAR:5567 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 957dc81a-c168-4bf2-a4a8-475fa98bc066 CLINVAR:5567 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0b7fec50-3e9f-47f6-8411-faebeaa884db CLINVAR:4087767 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9644626-ebc8-4ad0-a0d8-1fef57ad07e6 CLINVAR:4087767 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9cf5f986-4ff5-4d0e-b4da-20d6ea226cc7 CLINVAR:65709 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17bdc428-2bbf-4fee-a445-f5db22d463f9 CLINVAR:65709 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1a226ed-22e6-48f8-87ca-ecd04bb3a422 CLINVAR:99804 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c6f2452-5890-4d18-a070-2423d79d097d CLINVAR:99804 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4be7141e-1814-4cea-8905-2b63ea4d7aaf CLINVAR:916622 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51de7595-35c3-4d1e-b135-4d74c7658df7 CLINVAR:916622 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45e701ba-d42e-4d06-91a2-53c587e32e40 CLINVAR:2152271 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d4fccb7-3c4c-44c5-a73e-ea4591ab2efb CLINVAR:2152271 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bd7341e5-0418-4fb3-b69f-339d6086563e CLINVAR:99798 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1804e67-000d-450d-b767-3bf1ad36b77d CLINVAR:99798 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f8a646c3-5418-4179-9a0e-2b76d3dc8309 CLINVAR:1451640 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0a8640b-9530-4a18-a1a3-4641998bd503 CLINVAR:1451640 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 373a4184-70e3-4892-b527-313cc45755dd CLINVAR:574505 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24a4a997-72f6-4174-9d7d-90afd59af293 CLINVAR:574505 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 884243f7-c471-4886-84db-e4208d988cb7 CLINVAR:4087770 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78217cc5-11b2-4691-a483-acc5883b1541 CLINVAR:4087770 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc3a421a-df85-406b-a644-3b250e96fff9 CLINVAR:4087766 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e78928d0-1555-4703-ac36-34512aee544c CLINVAR:4087766 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 09e23a68-1cae-4c72-b7f0-3b82c10d37ab CLINVAR:812219 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73e54da0-70f3-47a6-9f10-f5bc685829f1 CLINVAR:812219 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5ac035e2-20cc-4674-9142-11c66ab3fbb4 CLINVAR:867104 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fb899e9-b30f-4b07-a852-22e79582b148 CLINVAR:867104 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 75a5633f-8d72-4ffd-9241-535050d405b7 CLINVAR:2736407 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e7f5880-1c4a-4067-a37a-1ef11bb6b444 CLINVAR:2736407 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e00f1b1e-e51d-480a-a801-9e2aeea0ccad CLINVAR:4087769 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e51981c-0d22-4a91-8097-86378ca64269 CLINVAR:4087769 biolink:causes MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 005f1344-7faf-4f41-b385-5f32fdac6b8a CLINVAR:870937 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48b87a9f-9a1b-4427-af93-0dfd169127af CLINVAR:870937 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 69313130-e74f-4392-b52c-3cfb6c802fe1 CLINVAR:813151 biolink:is_sequence_variant_of NCBIGene:23746 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c127ae15-d752-43b8-9de0-af0ea068ec7e CLINVAR:813151 biolink:associated_with_increased_likelihood_of MONDO:0100438 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d7023a47-3125-42d6-8d8a-77ec4e62d619 CLINVAR:812785 biolink:is_sequence_variant_of NCBIGene:1742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eaecbd1d-8f20-41ee-86e0-8855a279c83b CLINVAR:812785 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e5927f5-423a-4553-9c27-e64014fa9fd1 CLINVAR:812785 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02b30006-9447-4e7e-9169-210473334ab0 CLINVAR:474900 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f652d7ec-685c-45eb-8be9-e6a94df4595f CLINVAR:474900 biolink:is_sequence_variant_of NCBIGene:130060113 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bdf8a7b2-ef89-4571-afab-98b456d43255 CLINVAR:474900 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 23a969ee-0ed1-4b90-ad07-c8173edc9490 CLINVAR:166638 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 912067e8-e19b-445d-bdda-73a136be5902 CLINVAR:166638 biolink:is_sequence_variant_of NCBIGene:130060113 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70f2a85a-2020-493d-96c0-4c92c3de0f0c CLINVAR:166638 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 670a7aa8-fa4e-4007-8ae2-11163f386acd CLINVAR:932830 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c95a1907-13a2-4502-bb11-c7a2b434d6b6 CLINVAR:932830 biolink:is_sequence_variant_of NCBIGene:130060113 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a4a4ddf-b917-436e-b9be-6f2ef67bb602 CLINVAR:932830 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 624ed5b8-5776-4014-8a82-e772a34d3572 CLINVAR:1707706 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 310915dc-26ef-4cc3-8954-c122014c86f2 CLINVAR:1707706 biolink:is_sequence_variant_of NCBIGene:130060113 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1f53735-af38-46f1-a6e1-a194ed55f068 CLINVAR:1707706 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17be6a7e-ee4b-4373-a146-366879be682a CLINVAR:541714 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae22884f-20b4-4979-86f9-4a3c48d69ccc CLINVAR:541714 biolink:is_sequence_variant_of NCBIGene:130060113 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13c721e5-ff0a-48b6-be88-d823a646a5e7 CLINVAR:541714 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9a846e16-2368-435b-96c7-69343474a38e CLINVAR:550622 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23986ee8-8f7e-46cc-a50a-b7853cb3591c CLINVAR:550622 biolink:is_sequence_variant_of NCBIGene:130060113 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b33a7a30-8721-45ed-bdb3-202274f6172a CLINVAR:550622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 82d59797-1d89-4379-82b9-8675da57538f CLINVAR:541718 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e57d7201-074c-4355-ad2a-39908fe66178 CLINVAR:541718 biolink:is_sequence_variant_of NCBIGene:130060113 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c7c956e-3672-4b42-85da-71cc10ac474f CLINVAR:541718 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2b85b12-d6d3-4267-938c-ef03c9b2b733 CLINVAR:857574 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54950b7a-74a5-4d71-a349-4e432b8ef811 CLINVAR:857574 biolink:is_sequence_variant_of NCBIGene:130060113 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd47dfb8-9da3-4610-97eb-2df89cdf3e17 CLINVAR:857574 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e19d0c06-fb2d-429a-9dab-c7f23b236c48 CLINVAR:550796 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 967088e1-17d1-46e7-87af-7c76ce6ccbc0 CLINVAR:550796 biolink:is_sequence_variant_of NCBIGene:130060113 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4b6531b-5637-43e1-8349-8bbb3ce78859 CLINVAR:550796 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9d359453-1740-46e2-99a0-1de03c61d0c9 CLINVAR:1073045 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82fc7fe3-e7fc-46a1-b040-b4bf681a6b4b CLINVAR:1073045 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 84944d4b-f430-482e-bba9-cd642531327a CLINVAR:932733 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fbf0ce9-79ee-42fb-a424-52037940aa4d CLINVAR:932733 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 189c650c-0775-4121-b8fc-c649c49d1489 CLINVAR:569888 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d574bde-f1a8-443a-bb5a-b21ae4a79ea5 CLINVAR:569888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a02b3846-aaaa-4de3-82ca-a065be7bc458 CLINVAR:553583 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11f8bdcb-5c7b-4af8-b871-1cfec9d047cc CLINVAR:553583 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 755c30fd-8a3a-4c54-a264-329cbfe3bb02 CLINVAR:1076425 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f079c69-ed94-41c5-9850-6646e2c464cc CLINVAR:1076425 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fccc62dc-77b9-4ef7-a807-3072a0baf124 CLINVAR:617952 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95aa5ddd-6e01-407e-aa69-0bb28e2955e7 CLINVAR:617952 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5405d98c-e4af-4b54-88ec-bc774c37a0af CLINVAR:203588 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fc9fa3c-d0fe-4f24-9338-3ce260566bdc CLINVAR:203588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 596c8838-b410-4f66-9c50-ec987588c55d CLINVAR:943198 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95fe9754-3594-4204-83bb-f0d4b242ebc9 CLINVAR:943198 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e92ca266-aedb-4b5f-a4c3-596079aeb7d6 CLINVAR:552361 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9611bd37-2144-456c-a273-8f438398b192 CLINVAR:552361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 24b52c5a-d486-4eb4-bf3c-1e47858612b6 CLINVAR:1707712 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b17a724-0de6-433f-acc9-55743cb3a610 CLINVAR:1707712 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ad49e138-32ee-4bdd-958a-d684aedd79b8 CLINVAR:1707707 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 785b1d90-546e-4061-b0f7-e7911448a3f0 CLINVAR:1707707 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d75903f2-54db-4d89-ab36-54f84f4b54cf CLINVAR:556238 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5bd8197-8a75-4ae9-b46f-181dad67550b CLINVAR:556238 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22d833ef-8204-4cb5-9b36-0e4e4de8819b CLINVAR:932734 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4927df5-6c4e-4525-9c45-272d5309d0c9 CLINVAR:932734 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ad80284a-1671-48b1-b778-bb5cc9f6cb70 CLINVAR:189116 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a151e67d-3a38-40ab-ab5c-02751e1bd941 CLINVAR:189116 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28c32a1c-3004-45cf-81b8-b6ce40cfbe8d CLINVAR:648624 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c3ecc83-19f9-422e-9b9d-f44705b71676 CLINVAR:648624 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 03502670-a1c4-4e70-9534-81c512669adc CLINVAR:371068 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78fed78f-746d-46c6-84d2-e3ea64362510 CLINVAR:371068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cd0ca7c1-35b0-4415-882b-ee0759129980 CLINVAR:373614 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3107999e-1118-4bdc-8cb6-00cd316bd013 CLINVAR:373614 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d30e9669-c328-4a1c-b2e2-e396fa3c3f50 CLINVAR:2446888 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c76f5a6-f2df-48ca-bd0d-49afe3160828 CLINVAR:2446888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9e9c0fe0-8f5c-42e1-a338-60721bea6e08 CLINVAR:1707705 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae3bb7f0-9bde-46fd-9ef0-e4df8910e497 CLINVAR:1707705 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 82616814-eab3-4308-a2d3-1cf6656b32cc CLINVAR:474896 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46a6a18f-d4e7-473d-bf59-7d08304249e9 CLINVAR:474896 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1944aa46-c0a1-4f2b-8302-b66c325c20c9 CLINVAR:1624 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0892efc4-3ead-4d18-86e7-ca2f8e4ffd5b CLINVAR:1624 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa2c0865-9846-4043-ba34-56c55f7bfae1 CLINVAR:203594 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c68cfdf3-bbff-4eeb-9e8e-d72a2c212033 CLINVAR:203594 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5cfc5566-719d-4def-93b7-2697e3a957fe CLINVAR:932735 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3507f61b-1540-4bf2-871a-91b89c5832d7 CLINVAR:932735 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e51403b3-283d-4d2f-871e-1b3769dc1220 CLINVAR:376917 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3339059a-872f-4ce7-acd7-cf777f8883a3 CLINVAR:376917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a70f623a-04d0-4edc-846f-cf89df97bee8 CLINVAR:1626 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40da5b3c-4916-4ca8-b7f5-d01b359895c6 CLINVAR:1626 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21cc1c64-606e-45cb-bb17-fb17268617c7 CLINVAR:1074732 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1505094-dc02-40be-a546-52e236dd3172 CLINVAR:1074732 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 91efcf73-b974-488f-983f-f8460df80571 CLINVAR:951288 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e782bdd5-b581-435a-a662-0b37e985cb6f CLINVAR:951288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6c45baee-05ea-4128-9944-2b200e31a0e0 CLINVAR:422995 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59eb748b-deb2-4b17-bbe5-4cb16ec6c59e CLINVAR:422995 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00c2a0f7-e68a-4eed-80d2-36d15d087272 CLINVAR:840694 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea8724f1-03b2-4d86-8b7d-b8c84905fb4c CLINVAR:840694 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f6280211-2494-42e8-986a-72a305567cc0 CLINVAR:189159 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c33fedbd-6702-48b4-b930-8c9cdefa5ff7 CLINVAR:189159 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d8dbfb7e-f991-4784-8bc4-b6b1cd3fa357 CLINVAR:953854 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f72af42-8be7-4dde-913e-e10083974e4c CLINVAR:953854 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eab3aa64-c28e-4f60-a210-46b16aa7f8a3 CLINVAR:370277 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18d2861c-146e-4b37-9bef-410d255fe738 CLINVAR:370277 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2892479e-d63a-4a92-b34c-aa3afa4fd7f3 CLINVAR:807359 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72f64b6c-51e3-4963-83e9-c09e4cced464 CLINVAR:807359 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a6952a85-31d0-4e08-9c43-483acaae2a3c CLINVAR:166641 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 055967cd-392f-4992-981b-843c004d612a CLINVAR:166641 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ac0b4e18-5220-4ed1-9f72-ef551bbb7270 CLINVAR:932736 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2767c409-aa97-4869-8c56-97efeba6ecea CLINVAR:932736 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7dd74357-a290-439a-841b-b0a4adf16bc8 CLINVAR:650581 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49fd0d9b-b71a-4c93-84e1-2ca01bd851b8 CLINVAR:650581 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9486ec1f-8583-4c3e-8eb2-782b2a8ea8ed CLINVAR:203595 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef3a62f9-1443-4a83-82bd-93227f394b16 CLINVAR:203595 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8093e496-3998-4bc2-9e0b-ed2946952c40 CLINVAR:856881 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0ddade5-89a8-4e09-933d-be052dafc23e CLINVAR:856881 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel beec6474-4d7c-4274-8eac-811cb035a756 CLINVAR:932789 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f335a14-5599-4202-b338-f2bd104a7e36 CLINVAR:932789 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 03744563-1a13-4763-a76b-30b6c3feddd4 CLINVAR:554491 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88c4f8e3-2da8-4a1f-8f7e-58b89bd7ad8b CLINVAR:554491 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d0962c6e-ab14-4fd4-8341-201e7c15485c CLINVAR:92288 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 699fbf23-2033-49d3-a13e-53f82fdd13bc CLINVAR:92288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c6a5b22c-4d40-40dd-9ffa-ce6534fa1464 CLINVAR:551588 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abb4b0aa-509d-4618-9f5f-32c3fde5263b CLINVAR:551588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 383858e1-90a0-45ad-8fdf-7503073d3998 CLINVAR:965068 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b995e8d5-d0d4-46a9-8a2f-51335ca3e82b CLINVAR:965068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c5546725-4800-47f0-a9c8-59f5ce0c76f2 CLINVAR:811525 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd59fe51-f550-471b-9dfc-54f5cf928d0c CLINVAR:811525 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 35739e58-7257-4303-b9bc-904ab048e360 CLINVAR:934787 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4e37ee3-2a83-4572-a22e-eda81157707c CLINVAR:934787 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 73b2b478-4fd2-4ac2-8173-be629bd1e13c CLINVAR:198683 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4055a77-7bf7-415d-93bc-60d324e387d1 CLINVAR:198683 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c9c39a00-8efa-42bc-ac50-66ef4ffca861 CLINVAR:166643 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18e77b43-b4d2-4769-ad6f-f61c5bc87551 CLINVAR:166643 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b4b6f6e0-89ff-49e6-a3c4-506564c02bc2 CLINVAR:1073342 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65329f0c-28c6-4730-9562-997e2efd579a CLINVAR:1073342 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c45e1242-0ea6-441a-b476-0803275a7632 CLINVAR:370717 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02b02c10-9efb-4414-93c2-72aed01b0d0b CLINVAR:370717 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33437996-a52b-4632-8171-4a7e54e2f168 CLINVAR:2671896 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8e2ab5e-1b41-4f54-bbc4-55125d2e50ef CLINVAR:2671896 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel be6c4324-c488-4d0c-8288-13deded8997c CLINVAR:581080 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ccaacca8-2fc5-4de4-9dba-1bd64113f2ad CLINVAR:581080 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e9bc9086-812f-4295-a2a9-a490ad68b5a8 CLINVAR:474901 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8205343-6b84-4d77-82a0-69b6c79aa7d0 CLINVAR:474901 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b6a9e55a-21cb-4607-97a7-6f490afceede CLINVAR:92289 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2bb282e1-a4dc-4aa4-9a02-b682d58a220a CLINVAR:92289 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0693cbb5-5826-4505-ae1a-ac75fadbb202 CLINVAR:932737 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47ecafd0-b540-4918-ac21-137465cc55c8 CLINVAR:932737 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 20a195f6-12ca-4446-8032-ad50226b6cd2 CLINVAR:188884 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad91af00-ef74-4af6-90ca-b4652ec1a176 CLINVAR:188884 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e10b94ca-1c37-4d91-8b2b-72fdb68d52db CLINVAR:844921 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd00d3da-ea68-46a8-9442-fdb90814f89d CLINVAR:844921 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 11b449de-8413-4cb1-8da2-f03aa95b6de5 CLINVAR:932827 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar acc30cbf-f606-4e48-a0ea-60c26d26540d CLINVAR:932827 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb8ee555-3343-4d92-a3fe-7efc6fcbf696 CLINVAR:932843 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63f2f639-a4c0-48a6-9e61-af276f33bf80 CLINVAR:932843 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c71abca9-0c4a-4dba-b072-031075c58921 CLINVAR:324989 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a6f9709-ec41-4692-a89e-f72152ee7e34 CLINVAR:324989 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 59e83066-2525-42de-aaf9-03008d34dc08 CLINVAR:92290 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5bc621b-bf56-42f2-9704-b75d858aa903 CLINVAR:92290 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bced1d46-8033-4938-8634-19f9ce22a2fd CLINVAR:932844 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b65e507-77b8-4400-ad07-472149066e93 CLINVAR:932844 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e41f01eb-4cd6-4b3a-aa41-45b857621644 CLINVAR:935797 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e87bc5d8-edb0-4eb8-83cf-b629ff4d17c7 CLINVAR:935797 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel de0ce58a-13a3-4ffa-96c9-3b9b9ff9da63 CLINVAR:21024 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4661dcd7-9d37-483b-aca5-cd073d8ae85e CLINVAR:21024 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3b17618b-1e5b-4e14-8bf8-544362ec8a5d CLINVAR:941106 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0faec93-4545-4e34-85c5-8ec20bb26163 CLINVAR:941106 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c0abcfdc-b1f4-4963-8eb1-1de03ad63492 CLINVAR:932845 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9884b7a-e05d-4de2-b859-3f6620ff0c13 CLINVAR:932845 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f1fa6551-05cf-4540-8a56-d965bb3120eb CLINVAR:371635 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8e82e78-43d5-4b76-bff4-26e4b0cf8618 CLINVAR:371635 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96d4f1c1-432b-43a4-b799-b0544f1089f1 CLINVAR:572229 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39c234d2-9c62-4bd3-b1d0-598aadafa29b CLINVAR:572229 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 83da5e5d-8972-422f-baf6-0fdc65787ad9 CLINVAR:281042 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98b3ed7c-912a-4d90-ae60-39af7031813b CLINVAR:281042 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e0144f6d-f954-4e0d-956c-201bdb5e2ad1 CLINVAR:21025 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e56dc26d-30c9-48c8-b557-7fea7b62abef CLINVAR:21025 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90269e6c-409a-419c-a3b8-b9221f43b59f CLINVAR:932846 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d8ef60f-4a32-4571-a5c7-e83ab74dcc79 CLINVAR:932846 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 80302aff-406c-4c50-9314-990987a6781c CLINVAR:522433 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46d6fd65-eff7-4e33-9628-39e15a417fee CLINVAR:522433 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 51ae6f92-d44d-413d-9070-0c30e5cea741 CLINVAR:291163 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79ff780e-0922-474a-82be-e7222ea991f1 CLINVAR:291163 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f3d052e7-618c-4b52-ad98-06a7eed598ad CLINVAR:370981 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 519ede26-4747-4ec8-8b2b-32af22a7a5d8 CLINVAR:370981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 065f32db-684d-4325-a9f3-88e886854eb0 CLINVAR:941268 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23ba7c07-ab49-4f55-be57-815020d1d7c7 CLINVAR:941268 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 96689d98-95d4-4256-a8fa-df4340b7fce1 CLINVAR:932828 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b3b7345-5885-47e2-9465-ecc84ddd3bbf CLINVAR:932828 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cb5e984d-2bb0-4b8a-81b6-d38a5bf94da5 CLINVAR:371464 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29ebb847-a3d0-47e5-b2c2-2b942102d3c0 CLINVAR:371464 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6450772b-6c44-43a7-9a6a-9f7c3f02a16c CLINVAR:189008 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 669ae408-e14a-494f-b3c7-f0b947075490 CLINVAR:189008 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9fe69845-f3aa-4e25-b4d8-9e4a4a0aec81 CLINVAR:92292 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff6471fc-6974-47f2-ae7c-c816b446f4e1 CLINVAR:92292 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c2eadfbe-2b38-41ad-b84c-5524aab63be1 CLINVAR:932829 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc6f72f7-1f9e-4fe6-ab5a-751b03bf33a5 CLINVAR:932829 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a254d9dc-df2a-4368-a69a-c173fbfcd646 CLINVAR:932847 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44f9ee60-8017-460e-821d-df214b71c4b9 CLINVAR:932847 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 93957ddf-e015-420f-9931-658551d47441 CLINVAR:554546 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d1d8765-1320-45aa-b252-06bfde05804b CLINVAR:554546 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7bf03bc1-fd54-4e3e-9272-b5f64eb894d2 CLINVAR:439361 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d2a215a-82f9-4f90-8430-dd389e79e931 CLINVAR:439361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a0b62e45-f697-4192-b77a-7862273f6758 CLINVAR:557676 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2bafe6ba-8c0e-40f8-ac83-11d7181fc1c8 CLINVAR:557676 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16f71613-e103-45df-80c4-0660014af68f CLINVAR:370886 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 640a205f-7f4f-45a7-8aaa-da30eb2360cc CLINVAR:370886 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1cd9e7ae-d9ac-4380-8f83-355edbe42888 CLINVAR:2446890 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2340344a-f849-44d6-b440-a742075da402 CLINVAR:2446890 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5e7226a-9682-4144-b8d0-85e044d88364 CLINVAR:581398 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13a4e1fe-ae18-46fa-8500-c3439b156036 CLINVAR:581398 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ba59dedf-8719-45d9-a59a-d5df10995269 CLINVAR:932848 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ad0c143-9259-4731-8622-cc653e6c113c CLINVAR:932848 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a16de804-3dee-4f3e-866c-b20c0e608e8e CLINVAR:932850 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7babb7a9-941b-4439-92ff-45b60c0679b1 CLINVAR:932850 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ed7da8a0-60e6-49b1-bc99-28ba3dc24eb3 CLINVAR:932849 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 170272e9-a67c-4dcf-b1bd-250501bd0311 CLINVAR:932849 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b7cd069d-a1da-4429-aa0e-b4a4adfcc465 CLINVAR:370686 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7733ad7d-fc99-4295-920d-021d8e76e6ad CLINVAR:370686 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d59f5827-388d-4a3f-924c-dcd97c42b170 CLINVAR:448981 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 745a0acc-4f12-4ae0-aacd-9fba4664d200 CLINVAR:448981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel effa4900-8f5f-4ec6-9f4a-ec8b22e44986 CLINVAR:370482 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc230ebe-75c3-4936-8100-fdc5c7a1e5b2 CLINVAR:370482 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 07c1c1ac-1830-4381-959b-6e1c36555018 CLINVAR:1707708 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b476d93c-35fe-443e-ae92-7bdac4749fd0 CLINVAR:1707708 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65d9210d-2cbd-41cf-b3a5-6e32ec83d983 CLINVAR:370279 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ec5edaa-a57c-43e6-aa22-da81a12cb3cc CLINVAR:370279 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f740358-59e3-4f6a-873f-3bd0d188559f CLINVAR:203579 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5edd34d-f1b5-458a-94d3-bb320ad70f4c CLINVAR:203579 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 01608867-5a72-40a5-a6ff-ef3fe60f4f39 CLINVAR:203580 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69a66a31-4fbc-43a9-b043-2af476e110ef CLINVAR:203580 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e84988e3-d97a-40d4-aedd-21f0724569be CLINVAR:618506 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8b20fa6-dd3c-4a50-9a49-6f8ad2d65d03 CLINVAR:618506 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ea060233-2bb0-43bf-9f9a-f4e2fa061566 CLINVAR:371449 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 202d0d8a-b1b6-4c6b-bc8d-434e80841fbc CLINVAR:371449 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ba1ad7e-922d-4ff8-952e-c321ac8fca38 CLINVAR:818026 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a145d222-a108-4d61-8d86-3cb49bb17b54 CLINVAR:818026 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 727e9896-edc2-47bc-9f63-a077ecea1280 CLINVAR:1628 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c0fe78e-fedf-41d6-9ea9-a9783d766da3 CLINVAR:1628 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 49ad14d7-6dd1-4d62-a9b4-7591c741735b CLINVAR:193786 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38f22269-f632-4b88-bd11-23d8a739699d CLINVAR:193786 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 27d32c50-1f09-4381-bfeb-bbc7e2902bec CLINVAR:936835 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcb2b301-2630-4a9d-ad96-ec9d5770e06a CLINVAR:936835 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9e8ef2e9-b40a-49af-bea7-28a17398d61b CLINVAR:1622 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e79c107-45f0-4654-bdb9-9ee19d751f14 CLINVAR:1622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6c28514e-b35d-44c0-a295-b014d55b34d8 CLINVAR:932851 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cff1bd0d-9cb4-4ec3-845b-6e396463f6a4 CLINVAR:932851 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1bffe65-c0ff-416f-8229-52ac9dbe26fa CLINVAR:810875 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8f1e3e4-1ef4-4b43-a541-4f8e731eeda4 CLINVAR:810875 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf0bcfbd-b5f6-42f8-a869-ff7632f0ad1e CLINVAR:474878 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7076d0ea-1475-437b-8e00-af77ce12796b CLINVAR:474878 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d63fb2d0-5f3a-4602-a01b-d2ef45ffd4f5 CLINVAR:1633 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43d45eca-8985-4ba5-b1c4-adf4efb0fafe CLINVAR:1633 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 021a84e4-47bd-41db-aac7-8fc9a42200be CLINVAR:1073505 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc2f3112-036e-4d4b-a3f7-156fb1cadf8a CLINVAR:1073505 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ee857c2b-ec1e-4b4c-bd0b-4dd1a3de2105 CLINVAR:555644 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4547f6f-60c0-4a8f-bb7a-cd402be59de2 CLINVAR:555644 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4dfb0326-1df5-4eb7-b289-1784cf3d4152 CLINVAR:557078 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2744465-c76a-4914-ad2a-61b56c8f7a75 CLINVAR:557078 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ce9b3d87-5d1a-46f0-b112-aea00f361738 CLINVAR:660424 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c8f3758-b10f-4ec2-9e46-5dc539377308 CLINVAR:660424 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ec797d94-6d4d-49bd-935d-e42a74b0ffac CLINVAR:203591 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 778af9f3-ff72-47b6-8f47-6d418bc1e1c3 CLINVAR:203591 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 10aa4a00-11c9-4688-a19c-26dcdd55f6da CLINVAR:932852 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 591096d8-a55c-4c5e-a8d4-5df3a2a2352c CLINVAR:932852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b4a096e7-29c5-45c9-89c7-8bd3f13b8c76 CLINVAR:474882 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d94ff22-f486-4e1f-a971-b34319c7258f CLINVAR:474882 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d42e6ca8-cb2c-4f7c-9b17-bf8108e70313 CLINVAR:595610 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca41ddcd-ed7c-49b8-a271-73564814e1e3 CLINVAR:595610 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel db551a62-eec6-4d62-837b-0efc93b61e06 CLINVAR:21016 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94215ab7-2573-4639-aec0-0761bd5095fc CLINVAR:21016 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe9eade9-51c1-4c4b-b97b-d36f337936f2 CLINVAR:285852 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 157380c8-2d1c-46a5-88e0-45343f99daaf CLINVAR:285852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d421320c-3dd6-40c3-b8f4-03ca58fc0e11 CLINVAR:1634 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a96d096-7f1c-42a8-af4d-8fa446488f4e CLINVAR:1634 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9c5ee70a-93ce-4241-b6cc-4ffc52273f4d CLINVAR:194317 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7022346d-9fe4-40c6-8efe-bd75e8f75d74 CLINVAR:194317 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f610898e-85a7-4b6f-8407-0ef0197c8a4c CLINVAR:374123 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8f4e278-9a71-4015-b128-43a278136263 CLINVAR:374123 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 13ec55e1-6180-4357-8de4-9cb5f30e40a0 CLINVAR:194316 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62142b77-35f2-49fd-8ded-37f2f1288082 CLINVAR:194316 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ca359e83-7176-446c-b3df-4a57bbcf6a8f CLINVAR:661308 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a62b0d96-efa0-4c65-87d0-58cef9f1da87 CLINVAR:661308 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel df522a4a-cf70-4087-8b4b-28e535689945 CLINVAR:1632 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14b518dc-4f46-4b8d-81c7-d813718ec650 CLINVAR:1632 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 83830f20-2e8a-4b88-97d3-ec418a12126c CLINVAR:203592 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c94fd488-7e24-4ce7-99bd-8386091b0911 CLINVAR:203592 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6d1db129-1994-46be-a9c8-66a29e128839 CLINVAR:203584 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f8e45ee-85b3-4dcd-8c22-23071b2ea6ad CLINVAR:203584 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 95c62d44-8a67-41f9-8682-6130d9d899db CLINVAR:203585 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85b08145-5e8a-4028-aff7-caf5e56595bd CLINVAR:203585 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7bd58ff-ae0d-4548-8874-f312bf3cbb18 CLINVAR:92275 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f66d6e6e-86df-4cce-adad-918de83080ea CLINVAR:92275 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9e2e8494-0f79-46f6-8ae8-8a8b235e2f25 CLINVAR:448982 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2075608-cba5-44aa-a6b7-ebf55e33106a CLINVAR:448982 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d9e4ab4e-31e7-4e49-b4a1-eb252773c9ed CLINVAR:21017 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c925896-ee1e-4232-8a73-0e693ca49fdf CLINVAR:21017 biolink:is_sequence_variant_of NCBIGene:1856 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61342a6e-2171-4644-ad83-111f48606639 CLINVAR:21017 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3cbb991b-02a2-4261-9d63-a0bd3c20f906 CLINVAR:92276 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e03b562-0c7c-427b-bd59-0f494457c219 CLINVAR:92276 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8013a373-58c1-407b-bb0b-93642f20b6fe CLINVAR:938242 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16a956e7-21c0-4d19-9d23-48573358ed2b CLINVAR:938242 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0efbeae0-2de3-4a13-be8f-95adde6e9ca8 CLINVAR:429246 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d16ea10-27f1-449e-a64d-ecb155b70ea7 CLINVAR:429246 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2e8ff805-8145-43ec-8461-13c0eb474bc4 CLINVAR:2507418 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c31ad43d-5f0f-42b6-9565-ff701572d6b8 CLINVAR:2507418 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16d44408-13a2-4be6-bc86-5c9b5e3c22fa CLINVAR:474888 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cc41120-1b0e-4184-a31e-959d6bae5473 CLINVAR:474888 biolink:is_sequence_variant_of NCBIGene:1856 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 502532b4-f53f-4905-866e-4175bb594327 CLINVAR:474888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d3b57a43-bad2-408c-8f1e-b9679e2cc977 CLINVAR:854401 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71fda6ad-7dcd-45ba-a03b-7a4ac0c1ded7 CLINVAR:854401 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8a1d03ef-c668-4e42-b6df-719491fd5162 CLINVAR:839947 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68f1b68b-5682-4dd8-b680-93589bf488ee CLINVAR:839947 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b26ed35a-b48e-43a9-9a42-ceda5384e044 CLINVAR:203587 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c94ff793-46c2-4bb7-9b22-978dce3a416a CLINVAR:203587 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c1c59278-fcd3-4138-bc20-0be91c9a2e9e CLINVAR:166646 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db212209-e042-429f-bac0-7eb55d118c76 CLINVAR:166646 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1c31455e-9e56-4a6a-bd3b-100ef06e7749 CLINVAR:370770 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f19a9d96-cd38-4ed9-8de2-385020e5ecd3 CLINVAR:370770 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fdbab223-f435-4838-b58f-4e7d83e1c06c CLINVAR:932831 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1440a00-ed2a-4142-ba31-61a5ea86d5ed CLINVAR:932831 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f902822c-0e12-4df7-ba10-ab70f3e767dd CLINVAR:417917 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0014ef53-444d-4935-b49a-835dbc050d7b CLINVAR:417917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6cc37dd5-cb0b-4ed2-944e-c0bd73633897 CLINVAR:932832 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22bbaebb-db7d-49c2-8afc-ac3752a53d9d CLINVAR:932832 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2ce0dc18-53b6-4311-acd8-804605b758ac CLINVAR:656452 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47967936-7e4e-46e4-becb-bbe8909eada1 CLINVAR:656452 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 24bd35d7-c13e-4fd1-ab0f-7fa0bf02e593 CLINVAR:1806485 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e0c3573-c452-41b8-8c41-dd745b2eee2c CLINVAR:1806485 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d0347b5-eba6-451d-9003-7c1b510624e0 CLINVAR:846935 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f1d4920-d8c4-469a-bcf1-6b8511a499ae CLINVAR:846935 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7be6e1e9-0c03-4dc1-850b-966fcd0faa1a CLINVAR:429730 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9151b4c-8221-4573-96ce-f670a831c98b CLINVAR:429730 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ce4b71b4-b7a7-4ca4-b53f-ea14c3e7f096 CLINVAR:21019 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 089104c6-00b8-4a88-846d-3faad831af3d CLINVAR:21019 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 80fcde8f-87dc-400a-9482-2bdbb814c6ce CLINVAR:932833 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 195a19e1-7a98-46f0-8244-ad09c36ac479 CLINVAR:932833 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel abd493b1-b132-4ba9-b862-4a30ee5ea0e0 CLINVAR:932834 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6ba9ff8-0c82-4154-a4bc-09bc626ed376 CLINVAR:932834 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 65c096b5-0ffb-4b4f-b847-0b2ad6bb50a7 CLINVAR:373427 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8cadb533-2186-4c5a-8b94-4625268b7d2f CLINVAR:373427 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b42d73be-d915-4ec4-9319-532e507d3851 CLINVAR:932176 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d814376-8a8e-4962-aeee-18599ae9cd50 CLINVAR:932176 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f52b8296-d074-46bd-ae92-f34b04d4e63d CLINVAR:932835 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1514b8ae-1b44-4467-baa9-2a067c40b8b1 CLINVAR:932835 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5124df86-998c-4388-b8a5-86f968f6be3b CLINVAR:557136 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bb26aae-8f81-477d-ab6b-3907b92ae5ea CLINVAR:557136 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc8bb62f-4bee-4ed9-8b69-7192b1a62394 CLINVAR:203593 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00055835-f648-49da-8b38-5ba6a9eba0c4 CLINVAR:203593 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 030d354b-013e-46c8-9718-cfc44f49b78c CLINVAR:3252078 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e94151e1-0d89-45fc-9e62-9c18fbe29450 CLINVAR:3252078 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel afaa9f85-8e81-4c8c-a6ac-4a5a57bf864e CLINVAR:1623 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29daf6b6-914b-4296-a2e9-f4e0af12eaf8 CLINVAR:1623 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dfb972bc-4ec0-4eec-bbd9-58ffa32124fb CLINVAR:379145 biolink:is_sequence_variant_of NCBIGene:37 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ea78d24-bb41-471f-924b-f9711cff19e5 CLINVAR:379145 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 93ff4eb6-c977-4348-aff1-658f4a55adba CLINVAR:428888 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d69aca69-0c8c-452d-8fb9-949a9757872a CLINVAR:428888 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f97913a4-59f6-41bc-bce3-1deac9b63e4d CLINVAR:1408583 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17acd082-9f18-49e8-8f32-0f816c616b35 CLINVAR:1408583 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a36c422d-cf0c-4f06-be8e-b485b06fccea CLINVAR:43587 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f63e72c-20a6-4cdd-9c76-fd119da9f151 CLINVAR:43587 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b790674-fcd3-4484-8509-008d588eb4f7 CLINVAR:2758378 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e545a1e-3d25-4c11-82f5-fe3aa1718817 CLINVAR:2758378 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b6fb5105-b52d-4da9-9c8d-eac16b721117 CLINVAR:12375 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d4aeccb-a194-450c-9e13-a2b5201641c8 CLINVAR:12375 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 06f3001e-7901-4224-995b-a72cabcc3109 CLINVAR:215996 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abd2fe5a-7d88-46b7-b590-51d6f1fa78ac CLINVAR:215996 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88134033-5568-43aa-949d-06a621621015 CLINVAR:142828 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3973d6a7-1524-4f8c-9610-fe97002c9ea8 CLINVAR:142828 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2529619a-6058-458f-bb20-fc77e1cf3a93 CLINVAR:177879 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ccfd8c6-6169-4dcb-ba93-a77a0f47b2d6 CLINVAR:177879 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8e6c7f8b-2248-43eb-9864-f7bb2986d9b3 CLINVAR:142536 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 053ef350-a4e7-463b-97eb-bd90f4f26e51 CLINVAR:142536 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74259524-652e-441c-919f-40c517f3645b CLINVAR:237938 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3eed07a5-d98d-4bda-b832-664df0d33fb0 CLINVAR:237938 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bedeff6b-8940-47bf-9a87-4e17b0101024 CLINVAR:1019612 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fbca1a7-d6fa-48b4-b755-90d02a94068b CLINVAR:1019612 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dbb22873-eb0a-4af9-9008-7d490adbc57e CLINVAR:428898 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0532380-2677-445f-a510-b3c0c24c84e7 CLINVAR:428898 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 65de5d4a-cc67-4e79-bac5-7d0746200df7 CLINVAR:633606 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1be0b788-bf98-40ee-aa23-903aa142cb6c CLINVAR:633606 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4bb701f-f6e1-4dbf-9a72-c42153412af8 CLINVAR:93323 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48987174-5fee-42aa-a648-f248fbb366a3 CLINVAR:93323 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 045459fb-b2c4-4ece-ab2d-ad73172cf59a CLINVAR:486555 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d6ac04a-6435-482a-a10f-63ccdceced9e CLINVAR:486555 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e0286bc-195c-42cd-b58e-07ab77722d23 CLINVAR:988616 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9827e12-c627-4485-8a8f-e821abc8ae90 CLINVAR:988616 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3fca1106-d92c-40dd-86ec-cb3da85d6055 CLINVAR:2757236 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3dc01ba5-0321-432b-a1eb-1b42b2ca8ce7 CLINVAR:2757236 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7dec21d1-3f82-470f-a422-e7a43ac2ddfe CLINVAR:12366 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 287d7410-fcd5-445e-b2ce-9f272c8d51a5 CLINVAR:12366 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4dbc00ef-d340-4ca6-bafb-418659e035e2 CLINVAR:843641 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67e43d72-12d6-41f0-80ff-5a50f1a35566 CLINVAR:843641 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1eae18c9-2843-416a-a9ba-2e6bbcfa8614 CLINVAR:1759844 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eda948cc-37a2-4148-8106-b2a4db7fa986 CLINVAR:1759844 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eab054aa-e4b1-448c-8236-ad6eac132f44 CLINVAR:856299 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72c6bdcc-0fc2-42f8-ae62-f03ff79a1b03 CLINVAR:856299 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bbb921dd-ae41-47ee-a842-d09351bac62d CLINVAR:230253 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ec5fca8-c265-420d-98d0-f91ffaa0f753 CLINVAR:230253 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93eb58bb-9882-413a-839b-1e611ae609aa CLINVAR:12356 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94f19916-e760-436f-a060-1fd102876a69 CLINVAR:12356 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13fe2991-c7d5-4d49-b1d7-b0e5cb2bcb87 CLINVAR:12347 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2db94b25-935e-46d4-b54a-7d8442c264a8 CLINVAR:12347 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba9b36f7-d2eb-4e74-a95a-d7e25228b35e CLINVAR:12365 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f490527b-e164-428b-b5a1-72005ed09730 CLINVAR:12365 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9c34318-5259-4375-ab1e-483758a0c7db CLINVAR:127819 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25b770bc-679b-4d1a-b344-0eda3bcef024 CLINVAR:127819 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 852a5b99-664f-4ac0-bd45-e27bd580f8d0 CLINVAR:376616 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7875f066-9b9c-4d73-a3d5-c5943e9ef71c CLINVAR:376616 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 75024469-a6ee-4aac-a9f4-f036500158e1 CLINVAR:376615 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3357226-2f57-466b-b21b-61afe92edf5f CLINVAR:376615 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e997881-22ff-4b32-aa8e-37fbfef5762e CLINVAR:188060 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d696f88-52c9-4b88-86bb-d96b8a2a0b94 CLINVAR:188060 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 33d25401-a41f-4c2c-96f7-a5864100b9a1 CLINVAR:376633 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3af957e8-ef5e-44d0-b1cf-f240f347fd38 CLINVAR:376633 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32d01463-e2e8-41fd-9ed0-871bee59818c CLINVAR:376612 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e34238b5-cf30-436e-b78d-f7124fe15a10 CLINVAR:376612 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 458c06d0-8c79-4bd2-ac1c-0f6cde6f4ae0 CLINVAR:142624 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79567e6b-8ec3-4b63-afff-6ea70811ce71 CLINVAR:142624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6e410c6f-952e-4033-b967-59203b036e34 CLINVAR:245711 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83da9760-f5f6-40e0-a24b-1cef5e9718b5 CLINVAR:245711 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 94bedc23-86db-4e00-995d-bf73a31de24f CLINVAR:406578 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09efab74-d192-4654-8bd2-6547731e8049 CLINVAR:406578 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 764be621-e715-46b2-8315-d770162a08d2 CLINVAR:482223 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0e36c68-0f50-4e10-8263-3c2b8dca7ecf CLINVAR:482223 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9067b39-62aa-47e2-9b35-700358b073d3 CLINVAR:182963 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3abb34bd-2885-4139-bf43-eed793d55ae5 CLINVAR:182963 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 35e7de5d-bd30-4351-9157-54bc71028630 CLINVAR:12374 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b47f4be-2825-40d7-ad30-616b5178ac3a CLINVAR:12374 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 178d9c22-5499-4b71-b8eb-c3ee6cf0bc93 CLINVAR:376649 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 682220da-f2e4-4bcb-a93d-32cc38579992 CLINVAR:376649 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb701f78-b0e4-4ad4-b319-c419303529cb CLINVAR:233951 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f80a6bd-8049-4a62-9563-93359a5c5957 CLINVAR:233951 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14b3a2a6-a3e4-4020-94d7-e286047ec248 CLINVAR:246416 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0a30b35-3a99-4317-9a9b-b68049371f64 CLINVAR:246416 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31bd01aa-aede-4931-bdbf-dfc4d2ec43d5 CLINVAR:127814 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffb7fdd6-ae83-447f-b09a-2e55a23d01b5 CLINVAR:127814 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e99346e8-7ba3-4888-bfa3-3df4295739bb CLINVAR:973858 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83ea73a5-e9f8-4ee8-8166-c113b77d8070 CLINVAR:973858 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4020863f-272a-441c-b192-e348e84cd9f2 CLINVAR:376680 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3de3afa7-01f0-4f4b-9a91-3a6f35e2fa4d CLINVAR:376680 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f6c7398-b4bb-4b62-8d95-973b464cb98e CLINVAR:528248 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5faa44ac-96c2-45a2-bc38-fc0a65ef13e0 CLINVAR:528248 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 248c657a-5486-47b6-9b5f-c741c6b5745b CLINVAR:246118 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4607ce89-e4b8-4ae2-815d-fc8e8aa0ca55 CLINVAR:246118 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db8784ea-143b-4dd6-be66-8cc5a938f486 CLINVAR:142766 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fefe6696-947c-47d2-ae2c-52e5d8016b04 CLINVAR:142766 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c86bad91-abb6-4a2b-8bed-266b1c83d74d CLINVAR:804214 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1617e1a-28b2-4db7-b2bf-97b2543ca73c CLINVAR:804214 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9e99ead-3420-4abe-a86d-bf3bf316c185 CLINVAR:184863 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9d33e38-33a5-4d92-9ee0-59b38ee53e7c CLINVAR:184863 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 082e84d9-1ee5-4955-aa31-c67031ccc3b1 CLINVAR:12376 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 541034a6-fc33-4475-a33e-0844bf6f7f5e CLINVAR:12376 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 04e90fd5-c769-4dd0-a60c-a685652cf0f6 CLINVAR:376563 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19ac1948-8374-4405-84d4-f0452f0ee5cb CLINVAR:376563 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3447820a-49d0-4b11-b2a3-bc0909d6be33 CLINVAR:376624 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b6a3c00-4ba0-4f9f-b192-2ed2b4674f5d CLINVAR:376624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel be904455-745e-48aa-83f1-4dda8ffc422a CLINVAR:219532 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cd49fe6-8231-4964-b00a-fefc8658a4b2 CLINVAR:219532 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f26d8fe5-0a0b-41da-918c-411a229cbab9 CLINVAR:656751 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 383a06f9-88fd-48ae-b61c-1378d72314b5 CLINVAR:656751 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7242bd0-9710-4f5b-8586-f70ff4dbdafd CLINVAR:934410 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff862541-b9ee-45be-91c8-71e0b0a8414e CLINVAR:934410 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cc813910-6ece-4f8d-a663-15bb6e4e2c17 CLINVAR:824232 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65682552-d553-4363-8172-5c020219b8bc CLINVAR:824232 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8f360f06-8a70-4c13-a62c-f9fce41e8e08 CLINVAR:481015 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e1574cf-306f-40b9-81c0-af8ac2993628 CLINVAR:481015 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7f28cc21-8866-4a60-a1f8-96c9d197266f CLINVAR:458537 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 344b277a-836c-4056-ae37-1f29e1beda91 CLINVAR:458537 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 66a641c2-8539-4835-a9f3-ac86a2555404 CLINVAR:376631 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e5de6f0-84b2-4508-aaac-f53c6a277790 CLINVAR:376631 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65dd117d-5666-4db2-b493-1235540c64c6 CLINVAR:376630 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4c010a4-4861-47db-b905-729ee5cbfa0a CLINVAR:376630 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b644dd95-9479-4e82-838d-6eda422e6fcd CLINVAR:376632 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d496be5a-3e34-46fc-a687-000b27cc384b CLINVAR:376632 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d3cc0f4-3cf2-4682-a2bd-ec3595b9324c CLINVAR:4533295 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92a2b1ae-ca44-45e0-bc9b-aa2e5d9dd661 CLINVAR:4533295 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1ef4e743-58ef-48cd-adbb-0881c0e94f10 CLINVAR:406597 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11617045-e6bf-45f4-9990-9532ec0014b3 CLINVAR:406597 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96c9aa9d-0d48-4ded-b139-a54cb95118b5 CLINVAR:233627 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8eef83d2-ca3e-460b-b079-966d442e25fa CLINVAR:233627 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db1eeac3-9dd9-4bd1-a20a-d38a58620748 CLINVAR:823452 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eaacc663-3561-4889-a0f3-5850302b69de CLINVAR:823452 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b9966259-38f1-48a4-a592-a57ca3e7dcb1 CLINVAR:492752 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e50c067-4bb4-4683-89ea-ddeb075fb5e7 CLINVAR:492752 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a1751b0-a343-45d2-9d3c-38acb2de1d3f CLINVAR:638853 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4392ddf-f6f4-48fe-b7ac-4f4eb5c1f21a CLINVAR:638853 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56c5f734-4a47-4696-98ce-7c1e76191476 CLINVAR:2697350 biolink:is_sequence_variant_of NCBIGene:7157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c18883d5-966b-4a50-9e36-7120c60f063f CLINVAR:2697350 biolink:is_sequence_variant_of NCBIGene:55135 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20d05262-7138-49d7-8e7b-7db45d4645ee CLINVAR:2697350 biolink:is_sequence_variant_of NCBIGene:126862483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ca3e91e-c6ee-488d-90c6-9cca18884daf CLINVAR:2697350 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7aa68fd4-999f-49a1-946e-be926a6caff4 CLINVAR:4538535 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1eb04c9-23f5-4842-be13-95d86baf9bcf CLINVAR:4538535 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 014e8cb0-d560-4b5a-ba43-e6b7de8f6b72 CLINVAR:98603 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e68e81c-1f7e-4b01-9023-504f03fa43a8 CLINVAR:98603 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3c71233-b947-4082-a80a-542cffecca5d CLINVAR:3602094 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7a2a3d5-6984-4d6b-b90f-9733ca40c9a2 CLINVAR:3602094 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bb1d0915-6dac-4e34-9411-78f87c964e8d CLINVAR:98609 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84096010-12a1-4252-ab9f-4e1194d372cc CLINVAR:98609 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 627e341d-af1e-48e2-a3c4-730dbeaa0b55 CLINVAR:98562 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e08d5ec5-03fc-43d2-8571-216468338ccc CLINVAR:98562 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5044844f-6bed-49c4-9c6b-bd224515252b CLINVAR:98590 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b36e34d1-cb8b-4fb9-a5d5-5924f6b9bf73 CLINVAR:98590 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7621e4f2-07f7-4c7c-979a-7dbca6d95662 CLINVAR:98602 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 201d4209-a235-49cc-94d0-916703dd093a CLINVAR:98602 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 999be6c2-a7ca-4711-9548-91943f971d43 CLINVAR:3602090 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 261266ba-5971-4d31-86c6-623a3786bb0a CLINVAR:3602090 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dad55359-1330-4876-b9f5-c45576003907 CLINVAR:3602092 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a0da825-4f82-40aa-ab9c-e66a776ee83a CLINVAR:3602092 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 598924fe-4a0d-4af5-afb3-fe542f885f9e CLINVAR:1445009 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04761ec6-e616-4126-975d-331b8859d878 CLINVAR:1445009 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 82f9cfb7-01f8-4eea-8d51-df6c1c2709c2 CLINVAR:808220 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e9d1b79-60ce-427c-b18f-6e4685031435 CLINVAR:808220 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 063d8e90-2b19-483d-a2f6-9cfef27af4ae CLINVAR:98610 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2909faf-de0c-4b89-86b3-9b719ad67d80 CLINVAR:98610 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c663f356-1ff9-4418-84ac-260101502481 CLINVAR:98611 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 266e9f8b-21f2-4dc1-921a-86f81654a893 CLINVAR:98611 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5ff0d402-d01c-4043-b0fb-a6d4f05e1d08 CLINVAR:98536 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da1cf690-b037-430f-abaa-fc553e833ae1 CLINVAR:98536 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1c3857f7-1c52-48a8-84a1-e84788dc7c42 CLINVAR:803313 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd672a9f-224b-4cfb-9e91-da1dc10b61af CLINVAR:803313 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9c5b972-eab4-401d-b5e0-183c286d6e2c CLINVAR:98540 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 739e3f79-2db8-493a-9d6f-cc060f011d5b CLINVAR:98540 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6720977e-883d-44bd-b300-10a9e098339e CLINVAR:638494 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40ff664d-de69-4a98-a239-c03d0c0fb23b CLINVAR:638494 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d885a584-e7e7-4579-ae3f-dc0606c0b951 CLINVAR:689384 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a3e5e01-0768-404f-b09f-36e2bdf1dfa0 CLINVAR:689384 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel caa83cd2-373d-415e-ae2f-f29c064ca2e6 CLINVAR:9350 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b35cb155-71ab-422d-b28d-bf8116ffe47b CLINVAR:9350 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90f84337-286e-4769-aae2-c9f5737893b8 CLINVAR:2137915 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f94fdbe6-2ae2-43d1-9ace-d33d83a315d4 CLINVAR:2137915 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d7d2b5b-d04f-4ae6-95c5-9d8dfb0e4aa9 CLINVAR:3583120 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be005277-5cd0-4c28-9571-fe2700ca79ea CLINVAR:3583120 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f074949-7bd2-4077-94cb-4308f0886ff5 CLINVAR:974639 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21695db1-b624-435c-8baa-134a15ee03bc CLINVAR:974639 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8d00624c-2743-4985-9010-551f6e9e4d9d CLINVAR:98563 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd47f8cb-2d70-4f4e-80e1-1ebe4d62f38e CLINVAR:98563 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06da4a7b-e32a-4658-abd0-c2a278354b61 CLINVAR:560463 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b13a732-31ff-483f-94cc-21a0aee6c8e3 CLINVAR:560463 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a79a937e-ed73-4647-aa18-7d8814c186da CLINVAR:596790 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6b20d5f-978d-4cfb-8f5b-34fae142306f CLINVAR:596790 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1daa8cbf-8943-4dbe-ace6-4de35d764fcf CLINVAR:938393 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59060eb2-3a99-4385-8cf5-83cb354dfea0 CLINVAR:938393 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 960f6ea8-2c2b-4b42-a714-06260aa4ffe3 CLINVAR:861651 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d52123ea-bfec-41ac-9151-d5653137a04e CLINVAR:861651 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4ef3410c-fb74-48c4-a638-0067c041e48d CLINVAR:3602093 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e35dcc44-8d7d-4e7a-a026-a4e66e446cee CLINVAR:3602093 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aaa534a0-3fe8-47de-8d16-b6f305996ccc CLINVAR:3602091 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5359a282-8ab0-4574-94cb-2516583fbf58 CLINVAR:3602091 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 85d1d346-3901-42e7-a184-31e9c19a4a0e CLINVAR:587413 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f18e43e4-3e45-41d9-a3d1-3dcf89068263 CLINVAR:587413 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f79a3b3d-e0b2-43e6-af4b-0bfc33b70d3f CLINVAR:3602089 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d35f04bc-2111-4fa5-b41a-6459149d888d CLINVAR:3602089 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f5c25bca-f6a1-470b-b936-46f4a62bb7e6 CLINVAR:98581 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5448a66e-e52b-4835-afcb-614080ca60bb CLINVAR:98581 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 78e9175a-9f63-4d65-a140-d932d9cb1fc9 CLINVAR:98582 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb5af13d-e7af-49af-b1c2-b3b2d899c4c2 CLINVAR:98582 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e438a249-afe4-4083-8680-bdc17792ea58 CLINVAR:98584 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7b06f8f-bb75-4369-9554-c54040be4983 CLINVAR:98584 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 93fbb404-3206-4398-b542-5c679a3d390b CLINVAR:4538536 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aacd0ffe-1b48-43be-96b5-ee13a1a0af82 CLINVAR:4538536 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eae9bd9b-9401-4d7b-bd0e-3d50f1ffa3a2 CLINVAR:974655 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d86ca26-eccd-47e0-b272-1f1b9ccfb619 CLINVAR:974655 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 830b7d74-72c6-4847-990c-146b90adda3d CLINVAR:3602095 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b05acee-ef85-415c-b982-40a30ca63fac CLINVAR:3602095 biolink:associated_with_increased_likelihood_of MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6a48e75d-bf5b-4355-8d5c-20f76dea602d CLINVAR:581095 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2594c2fa-c5f5-467b-8bf2-a4678c8b34fd CLINVAR:581095 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0ca743a-a573-4c84-aa78-df76d7e35744 CLINVAR:866048 biolink:is_sequence_variant_of NCBIGene:3000 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7906cc5-f6b9-4467-99cf-c466c5f02fdd CLINVAR:866048 biolink:causes MONDO:0100453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52c72238-9094-47b7-a470-9871054917a4 CLINVAR:505185 biolink:is_sequence_variant_of NCBIGene:51168 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1be1080-df16-4548-b052-a563c0f9aee7 CLINVAR:505185 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 816ced8b-59ca-4167-949e-ec4be0f0eb47 CLINVAR:500061 biolink:is_sequence_variant_of NCBIGene:51168 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c01eac51-f1a1-49e5-a25c-7141740a75c0 CLINVAR:500061 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f443321c-cc59-41e3-9df2-c9a54f3409b4 CLINVAR:623347 biolink:is_sequence_variant_of NCBIGene:51168 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38aeaf21-d024-4bd4-8ff8-466ffb6094b0 CLINVAR:623347 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7ad0e16-de13-48b3-9458-75769d9ff8bd CLINVAR:449526 biolink:is_sequence_variant_of NCBIGene:51168 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 913e1300-c6c2-40bd-a1ec-a5346f732841 CLINVAR:449526 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da77ee3c-9c5b-4e40-80ff-85b7af6ff49c CLINVAR:632271 biolink:is_sequence_variant_of NCBIGene:51168 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5273743b-56d0-417e-8fd1-a20b4da82e34 CLINVAR:632271 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c80fa48f-05c4-4be9-8ae3-e1969bda8508 CLINVAR:228954 biolink:is_sequence_variant_of NCBIGene:51168 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2315d041-9984-4c50-8b8e-db0d295ea557 CLINVAR:228954 biolink:associated_with_increased_likelihood_of MONDO:0010860 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9ddcd8ee-aa26-4a59-b48b-cc5d3c5239b3 CLINVAR:6950 biolink:is_sequence_variant_of NCBIGene:51168 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d05e0166-7d4d-4556-bc75-4931215eed4a CLINVAR:6950 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel db289c39-afd1-4bd9-a60c-e5e3910973db CLINVAR:666995 biolink:is_sequence_variant_of NCBIGene:51168 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbca7080-5ca1-4e31-8cd3-84d81175acb1 CLINVAR:666995 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 623b2b85-8256-405e-af66-f70dba7726f3 CLINVAR:930033 biolink:is_sequence_variant_of NCBIGene:51168 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 111337ac-4e2d-4125-8c63-54c20c10d081 CLINVAR:930033 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3db75b12-6aba-4316-8b17-aa21bfaa1c42 CLINVAR:2780381 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58bf3315-b411-4e5d-bab3-a878d8f7cb64 CLINVAR:2780381 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0e2810ec-05f9-4a0e-b106-6f11935048cb CLINVAR:2088121 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29f5c4a3-560d-4d67-88d7-c3bf1c15c3f1 CLINVAR:2088121 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel acc7b72c-7ae6-4ffa-9832-dcb746f77793 CLINVAR:827573 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fb2589f-ac62-44b4-a236-a1952c0235d0 CLINVAR:827573 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 630c120f-56d5-4d07-ace9-d5fe1ef879fe CLINVAR:1070970 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c3b6492-991b-4996-bd35-571fee49a7a4 CLINVAR:1070970 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eeacdd7d-62f4-44d0-bcf3-4cf22970c29d CLINVAR:8757 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab9da985-06d5-410c-8b78-a48b37053a20 CLINVAR:8757 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93e97d72-ec59-4d0b-a88f-c206910240c2 CLINVAR:3367209 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cb3cd95-0361-4cc3-ba56-f6828d440ba4 CLINVAR:3367209 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb680c01-ddb4-44e7-8c16-db0d7856c39a CLINVAR:644342 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10531557-fdb5-4aa5-a66f-a198aa56b3cd CLINVAR:644342 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7253d4e9-ec15-4c25-8560-08c1ee59c38b CLINVAR:422945 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b5a9b5d-e7ac-45a6-a479-3b1772593164 CLINVAR:422945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 015203a3-9f53-41e2-96f7-1503d4fc1e4f CLINVAR:827574 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c0fa381-ec7d-4099-a133-3af5324463aa CLINVAR:827574 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e6b6840-b256-4a63-9931-3d15d716ae28 CLINVAR:827572 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d51f87ab-18d8-458f-8e9b-2296712f370e CLINVAR:827572 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46410ad4-e242-4640-bdba-5e9263d0023a CLINVAR:392379 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96ff7179-f7f8-4e12-8f8f-2da62d6a0c8d CLINVAR:392379 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b5d0e036-2a3c-434e-a454-55b6d1fec56a CLINVAR:656631 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2788cf57-ba80-415f-9015-c9ff147d3a65 CLINVAR:656631 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 99425e08-3d69-4aac-8551-a13229b22a8b CLINVAR:1456275 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31927106-c567-44f6-a862-e6903e6e9040 CLINVAR:1456275 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9382538b-10b3-4d58-aec2-7ebeffb56ad6 CLINVAR:1966519 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 912ec3cd-532e-49fe-b9a7-ef1e25917be0 CLINVAR:1966519 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c1d30d8c-3aa8-452f-a020-009fa2267933 CLINVAR:3367210 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04e8c3fc-da75-4e74-ae2c-667329f5d446 CLINVAR:3367210 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5ee87b8-f4ef-430d-b64c-83eff3e6a825 CLINVAR:418218 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 397056b0-889c-4b0b-af1d-2aa0c9182c14 CLINVAR:418218 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 925c1f0c-5557-4d2b-83cd-91f8391fa546 CLINVAR:3367212 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0eafa07-cde8-47bf-98b8-5d6b45b27dda CLINVAR:3367212 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 64496123-3d84-48f1-91c2-855e65cae44e CLINVAR:3367211 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7db52ad1-9d46-4f9d-a9b5-549a3e3d05a7 CLINVAR:3367211 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 68743d39-0908-4a18-8d3b-a5468b17b931 CLINVAR:423100 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53d68971-703e-4dce-944d-ef5ab3a0347c CLINVAR:423100 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a69e5aa1-a2a3-45c9-bd01-4b0b60844d0c CLINVAR:1199408 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3efc8803-9673-41b8-8926-6d22650ed2ff CLINVAR:1199408 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel abde1bb5-8a43-4b0b-9dc6-e11ff031609e CLINVAR:2108802 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9872fb40-881a-456a-9a91-5dfb245c307e CLINVAR:2108802 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b91ef836-f1b7-4447-b7a9-36ce5c027270 CLINVAR:1048525 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 812dd1bb-06f1-4896-8e0a-ebe783dbe5ed CLINVAR:1048525 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 101af57c-87d4-4c84-8492-988ff05c287a CLINVAR:837219 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3c0e86e-7761-4eb6-8c14-1e0d35a3895f CLINVAR:837219 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ddfacbb1-352b-47e1-867b-889c46b6198e CLINVAR:665887 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84ab1a89-e61f-4fdc-8463-2698e99532fe CLINVAR:665887 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a5cb9f33-53ed-4363-b104-f7fa25e7b6cd CLINVAR:827578 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ef2ba19-55d3-4a2e-a233-32e58cbab519 CLINVAR:827578 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f56e241a-7f95-4388-9952-6d100a95bed5 CLINVAR:660886 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0c40c13-9217-482a-9d87-27cb0015db8d CLINVAR:660886 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b0017e6-13d2-4fbe-9a20-71af0635de69 CLINVAR:869415 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b1ad5f4-d550-45de-b708-c9c1e8a14afe CLINVAR:869415 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a936641-0389-4bd2-b334-9878617e8fec CLINVAR:3367213 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d965684c-d532-478f-af2a-299a35046d9d CLINVAR:3367213 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 866ce796-b8b1-4ac1-95d3-5c8660831af8 CLINVAR:626107 biolink:is_sequence_variant_of NCBIGene:8456 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfad0283-852a-4a3c-ba54-b2dc03ab527b CLINVAR:626107 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7ba80a49-a34c-4a90-b7f7-599afa12c40b CLINVAR:55602 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49fc79d0-a230-4be2-ae00-a623993420c0 CLINVAR:55602 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfd30a76-1460-44da-8c92-6a39c49f3627 CLINVAR:55631 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36c7a301-b51a-41f4-a52f-6df2e69a910c CLINVAR:55631 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 657c01e1-6a47-4331-b2d7-6b0c27e54504 CLINVAR:266565 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 699a0656-6e44-4a83-b013-ffd022c6cad3 CLINVAR:266565 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef0d3d33-beea-4a22-a493-c204c1251a5d CLINVAR:266564 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b91b574-a4fa-4231-9a4a-1cf6ed7a02b7 CLINVAR:266564 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7baa914-6f44-4bdf-b0f6-05ed4f2e4914 CLINVAR:55630 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d8473af-2b7f-49d8-836a-9067b87f34c8 CLINVAR:55630 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 407f9816-7325-4335-8197-f692ed782373 CLINVAR:55628 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd5e2dd9-2709-4147-bbd2-14e5cabad7d3 CLINVAR:55628 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 824ad462-85c6-4552-8e6a-f4a4874059b0 CLINVAR:55629 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d8f4480-9f3c-4ae8-be84-5f3da23aee1e CLINVAR:55629 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3cb10459-3d7e-409d-83ae-077c1e0ef239 CLINVAR:266561 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07745240-8332-4560-a276-982435f46016 CLINVAR:266561 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1c5fcfe-e5b1-4b22-a5f2-36a79d48ffa3 CLINVAR:55625 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f6ab113-811d-4981-90c3-9dfe6f9b7ec6 CLINVAR:55625 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1619e031-50f9-488a-b161-1380c152db9b CLINVAR:266563 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81257306-75c2-4768-90d4-50463d764b2d CLINVAR:266563 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16b7af0e-16c1-4a2e-81db-af1088d57c78 CLINVAR:55623 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9832f1ed-ceaf-4170-80fe-46bee66e35e2 CLINVAR:55623 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43503e00-f485-49fa-9173-f128b1552e2b CLINVAR:266562 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7931a16-a2db-4fc3-97e2-05a1fe12d7f5 CLINVAR:266562 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b23679b-4dba-4c42-9e1c-99a2ef18fe01 CLINVAR:55622 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e836d82-9aea-4273-89f5-9d7445419d54 CLINVAR:55622 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90c2443c-66ef-4ce2-a61c-17b7e9091cfb CLINVAR:266560 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f922843c-f406-4246-93d5-2ff6dbdb39c5 CLINVAR:266560 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e610f62c-02d8-4e6e-a795-427eed7fb7d6 CLINVAR:55620 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01234e06-95ec-45fb-879c-f362b5dfd576 CLINVAR:55620 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2411006c-4b8e-483d-821f-74e447feaf34 CLINVAR:266559 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1267eece-0cff-4ec4-b9c1-ae9d2a07a2fc CLINVAR:266559 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8112dfd1-3226-428c-b5f5-07a1b8aefc41 CLINVAR:55619 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2bfd199-b0d8-436a-b98a-348df757c75e CLINVAR:55619 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa517224-192e-4529-8c5f-8b492d0a24a5 CLINVAR:417827 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5066f708-07a6-47c9-8823-4ea5441c7b4d CLINVAR:417827 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f448dcc5-c5e3-43fe-a881-f20f59b50756 CLINVAR:55618 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf2652b0-8169-4b95-8f1a-1faf07737702 CLINVAR:55618 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8c7f059-eff9-4387-9445-d1e669593ad6 CLINVAR:548197 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e346cf83-f8d2-411f-9fd3-ef4dc5f0fc06 CLINVAR:548197 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29ecdd0b-318d-4ba0-8a71-7345b7422902 CLINVAR:418073 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 280f0d89-9d6d-48ba-8201-8dd0e23fbf7d CLINVAR:418073 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c60dd9b1-5417-4883-ba65-b5ce63420b6b CLINVAR:252389 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a32f8fdd-8997-4323-b40a-f2c8dd55c381 CLINVAR:252389 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78019b98-35ed-4d60-a4ec-4387f6f75877 CLINVAR:219716 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98adf38a-0fa0-4356-9793-3873d7052c58 CLINVAR:219716 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b6a07e5-e4fb-4b43-9bcc-c535293a1fbf CLINVAR:55612 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dd3e811-2ab4-40e6-8bc6-4d4780640284 CLINVAR:55612 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4b073d3-08f9-4cbc-94e7-14e895c06a78 CLINVAR:548201 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5697ed8e-d9c3-4036-8078-3358735e57bf CLINVAR:548201 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2aee227c-851d-411e-95bc-0e04cfa5394b CLINVAR:91656 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77fc881e-7080-4a78-b113-5a393e1170a5 CLINVAR:91656 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c4fc510-f06a-42ad-83f5-83ba9e064945 CLINVAR:55611 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed3fc6a5-1122-4300-93d7-983b668591b6 CLINVAR:55611 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fdbb0f85-91ec-4771-8a84-ca8a5fe1e46e CLINVAR:55610 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 627ab6cb-0a84-4175-a507-c1e05b91facd CLINVAR:55610 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c7a76aa-1400-4959-a89d-ac42bf8335be CLINVAR:125867 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87cec81e-a861-4d79-a7d4-16f8e07eec4e CLINVAR:125867 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d35a65dd-dbf1-43fa-a45c-b6b439fe4837 CLINVAR:55609 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf79630b-8342-4406-9a31-11f623497df0 CLINVAR:55609 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af368b78-53b3-4a19-878e-cb75aaf98aab CLINVAR:431281 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79e3ac8c-d333-4598-a9af-9429fb855f8a CLINVAR:431281 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26ff98be-c99f-4a0c-9a7e-20a2db9b409e CLINVAR:266554 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a37b30b4-a351-49ed-acac-4e0c9f78ff77 CLINVAR:266554 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9d4b736-feb7-4a71-b77f-8e134f4582f3 CLINVAR:55608 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6601089-1781-460c-92c0-49ccd2b0fa4c CLINVAR:55608 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06729a61-3f60-41ea-8abc-274046b66600 CLINVAR:55607 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 655a6752-7d1b-4e5b-b0e1-64e3ef5a0184 CLINVAR:55607 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 685b2ad7-ae65-4a99-bea8-53f816d1d2ba CLINVAR:37679 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43cacbda-272f-4e7d-ad9a-e7b45d2b45a5 CLINVAR:37679 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3a6adbe-1be7-46b7-8271-075746026892 CLINVAR:266557 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0215bd2-eceb-4550-b29d-fa01f670ae48 CLINVAR:266557 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 264c4f00-54f5-4e9c-8cad-0236cf7e27d4 CLINVAR:55599 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87bc9ec4-9c03-4f01-8dad-b295d1106304 CLINVAR:55599 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 613d331c-908e-4277-9d5b-dbf4c5d88c96 CLINVAR:55606 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1fb9136-a580-4d10-9511-0548580852ec CLINVAR:55606 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8db7d5d-4d90-468a-8d62-2b86c54554fe CLINVAR:55597 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e172c6f-0b75-4906-aa80-e840b7b47797 CLINVAR:55597 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92cf5bdb-1f84-48b8-ba91-4252a7f3d328 CLINVAR:266558 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2887525-88e6-4165-bd30-2ae80ec77593 CLINVAR:266558 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 94059127-f7d2-4a03-b938-afbf72d5336b CLINVAR:266556 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8a40c58-f829-4d8b-a9a3-f12e0e9e6332 CLINVAR:266556 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6eace1c3-1ccc-4d72-a29b-0d5d4cbaf8a5 CLINVAR:55603 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e46bad13-3ba8-4fc5-a26e-4ab2cd32cf5a CLINVAR:55603 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2da85752-71e5-448d-9831-3597024e11bf CLINVAR:55601 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4a93033-33eb-47bc-88e0-dd21e6cd5f74 CLINVAR:55601 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d828065a-9c9f-46d2-a05d-80d533be7d48 CLINVAR:236274 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4afe1d1b-cf66-44eb-a3be-6020009a5992 CLINVAR:236274 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0e1e4a60-c3c0-4ba8-9459-42468a503eaf CLINVAR:548175 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a384b514-0b56-4462-95f9-ae37e776d626 CLINVAR:548175 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3fe9405c-131b-48f4-bd3e-576ed967182e CLINVAR:266555 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 362e976a-760c-4313-9c7b-10747055f8a2 CLINVAR:266555 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a254e24b-6e7e-44c5-91ac-163477b24e68 CLINVAR:55596 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b642dd6f-30ab-4fbb-a64a-4ce52901e22a CLINVAR:55596 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d692990d-c248-4bf3-a037-c3e0bff7f743 CLINVAR:125861 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7003bde-cf19-4001-98b9-fe1aa0dd49a6 CLINVAR:125861 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d66b760-61a2-4862-aa0d-0aceb3457777 CLINVAR:254471 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43bb3610-e872-4596-a06f-df2e24750203 CLINVAR:254471 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ebdfce80-2f13-489d-8889-203d22115935 CLINVAR:254470 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ef6b2db-c1ac-4046-9031-34f11dc8abe9 CLINVAR:254470 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55e40ed3-12a7-4c9f-ba8e-e06f00b6a474 CLINVAR:55593 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1bb625a-034b-44b9-a0b2-f0f75cfd00b5 CLINVAR:55593 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7fb6806-3eb3-48fb-9cd1-7d7cdbfc1504 CLINVAR:182075 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d38c726-866f-4c0e-93ba-c685d37a39a5 CLINVAR:182075 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08c69c97-7759-447e-9aba-f52eafbeff28 CLINVAR:96952 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efd3d758-3370-43ff-964e-51f5fb20f386 CLINVAR:96952 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae478f9c-b747-4731-b17f-efc7db001bef CLINVAR:55591 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f753f615-dc53-4919-88f9-abee3bade61c CLINVAR:55591 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d38081b1-28c4-4942-8e60-cedca50b8928 CLINVAR:125856 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f44f4f0e-ec10-406a-b374-d609aee66e71 CLINVAR:125856 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c671ac7-ecf6-49d9-ac8a-59b3ce3000a7 CLINVAR:548237 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a02933ab-d511-4b7c-895b-466ddc05dad7 CLINVAR:548237 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 251c0008-8f16-4e7c-97d6-7642c6aa7cb0 CLINVAR:125850 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfef5dfe-653d-470a-994f-3b674ab9b527 CLINVAR:125850 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0f22680-54a8-411d-8e0c-864af44c7174 CLINVAR:373823 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a81cbff-53d3-4da8-9dd8-9ae732a43c0f CLINVAR:373823 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f804077b-b0de-428e-a7f7-05d4202938a4 CLINVAR:55584 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5a87efc-789d-4322-98f0-1e75e5f6467b CLINVAR:55584 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b8f5518-7298-4f76-bbcb-e2761d95940a CLINVAR:55583 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b24b1cc-d2f9-4fe0-9553-072a6eba0919 CLINVAR:55583 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b0d7c3b-7471-4b72-b1d0-0ed50e29978e CLINVAR:55581 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20d14874-b764-4a77-baf4-4ae4bfa39d89 CLINVAR:55581 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83ca23eb-edb5-4444-845a-94c70b84f55c CLINVAR:55580 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec051d5b-ba9b-4b97-8326-66cbae52faf0 CLINVAR:55580 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 093104fb-f048-4e28-82cb-541195146910 CLINVAR:55579 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bdc107ad-1745-4e54-b624-e076fb27ec71 CLINVAR:55579 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 472d4a37-c9db-4d82-b6bf-5a8b45543516 CLINVAR:55577 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9540cf5b-c830-46bd-a9bd-b504e440ea0e CLINVAR:55577 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab1280d3-d3e4-4638-99a8-2249f1f1a49e CLINVAR:548179 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0123692f-6b0d-41bc-af6d-5e541d0517e9 CLINVAR:548179 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0bc5c453-940e-4f48-9607-d23c7bd3e7a9 CLINVAR:433737 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51df1e02-980c-4bfc-b407-91a829886bc5 CLINVAR:433737 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56984c84-d0f5-4efb-b04d-75de803acddc CLINVAR:55573 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a36c6466-fa64-4564-8d0c-c729e17d37b5 CLINVAR:55573 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 31e73191-c5e6-482d-82bb-dce8cbb7a9ff CLINVAR:266553 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18dba7ba-f2c4-48cb-80f3-f9990f20190e CLINVAR:266553 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b62f7efe-6f8c-4c46-b75b-a98d28fc0de2 CLINVAR:55571 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4b67de1-ca7f-4832-b3c0-f0d8d829d386 CLINVAR:55571 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ca96a2b-cb60-4760-a407-3cef3618b245 CLINVAR:37669 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54cc9862-2f8d-4555-8b1c-2e64c17537cb CLINVAR:37669 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60b337ff-5364-427c-8ef1-a2e13c2100b6 CLINVAR:267222 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36e91030-97ad-43ca-a9a4-c7e70ef9a45e CLINVAR:267222 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfa0bdec-726b-4e97-82c7-80c905507952 CLINVAR:96950 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41eb4fd2-d680-4271-840c-c57ee86903cf CLINVAR:96950 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8de7c1a2-58e3-4887-8bf6-8a409d5d251a CLINVAR:267601 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 678c4a41-31c9-4ef5-974c-39ac8dfe411d CLINVAR:267601 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2534bac1-4d70-4cd9-aa8c-6e469e8b893c CLINVAR:420726 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7710aeee-e0c4-4b33-828e-a3dbbbc9cf1d CLINVAR:420726 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d1dafaf-2a8e-4ba4-890a-ef155e830e87 CLINVAR:125833 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4517f08-88b1-4715-9094-0daa1f3758af CLINVAR:125833 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c57eb7b-18d4-4e76-a0f0-f32602add009 CLINVAR:254469 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44430385-9120-4496-9f90-9ba2388bd25f CLINVAR:254469 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5c127ff-bbd3-49c3-9269-44fb4d939e05 CLINVAR:266552 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d9200c4-7f07-4f48-99a8-66b6c7462ffc CLINVAR:266552 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03015915-9719-4862-b75c-bdba53e2dd7f CLINVAR:266551 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ce94996-c3fb-47bd-9f05-7fed3dac12c0 CLINVAR:266551 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c32241b-05fb-49ac-b9f4-d4bdde881dc4 CLINVAR:55558 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3fc4072a-1b86-4676-83d0-94fd33923cba CLINVAR:55558 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d21c35ff-bd58-483c-bbdb-07852a32a676 CLINVAR:37663 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88781216-eee5-40a3-9bb3-6629ffa3bf36 CLINVAR:37663 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ddd6235-e349-4528-94e1-7831d79f9aed CLINVAR:37662 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5bc9b10-d7fb-4d62-aabe-4a917e9b98b1 CLINVAR:37662 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 669d5d8f-ad02-4ba1-81e9-abc8b0f8eb85 CLINVAR:55554 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 263c3c52-271f-4aad-b87a-29b6e54198c2 CLINVAR:55554 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3444d1eb-cd86-4d16-9386-1145bec40f85 CLINVAR:433733 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 297202a6-a84b-41e3-986b-9da81ee28f32 CLINVAR:433733 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8712284-3722-4ca3-93cf-31cb106be8f0 CLINVAR:55556 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cc3650d-2e35-4f8c-a320-24825ebc6e48 CLINVAR:55556 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12d7d0c0-dcb6-495c-8be2-dc72a7d5fba1 CLINVAR:246134 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b3b623c-0b2d-45c8-ad28-6dfc3d093883 CLINVAR:246134 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2fe9a26c-2ee6-44fd-b7ec-34b225bbf3b4 CLINVAR:254468 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35831265-108c-4234-986b-ad0dfda0b931 CLINVAR:254468 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a8dbc37-2ee9-4501-bc46-a621622aa058 CLINVAR:55552 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4583c31-6eaf-49da-8004-26e2c3f0ab90 CLINVAR:55552 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a820b27a-38c6-4a94-822e-2a430cc206eb CLINVAR:37660 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae2f9893-5c60-4cc1-a0e0-e4ed56b87d2c CLINVAR:37660 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f54a6b60-9a1a-43a7-a6e1-3738cf9a8e13 CLINVAR:266550 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 426b0e62-c76d-4711-8d73-4ae7f427fccf CLINVAR:266550 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b6c8b54d-2f7b-4fdf-97b9-8b09a61ded3b CLINVAR:187349 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 186a2447-0736-48db-8334-f37f60d1a9c0 CLINVAR:187349 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03315664-2879-4692-9e5b-2066171a5e8f CLINVAR:55549 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 563f6ef5-7c65-495b-a8d3-fd73741adfe3 CLINVAR:55549 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0e6f8cd-1e8d-4c0e-9e28-aa9b14ab5fff CLINVAR:91649 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c00fee85-b6af-4a78-808e-afae4d8a70f1 CLINVAR:91649 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b49a673a-f0c1-422c-8567-5085e6acfd57 CLINVAR:266549 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0cd2f26-9428-498e-a20f-c67cc97adaaa CLINVAR:266549 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ecafde74-bca6-49a9-95b3-a26ae9e84ee0 CLINVAR:55546 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09d40817-a445-4b71-afff-8d352e7f8dcc CLINVAR:55546 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d836665e-1526-494d-9dc5-1b541599c1ff CLINVAR:125832 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c20cfd8c-75e0-4939-80fa-e4485c490f4a CLINVAR:125832 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 464e1dab-622b-46ca-8fc0-37ca2de770d7 CLINVAR:266548 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67ba959e-e474-4b99-a126-9547b76741b0 CLINVAR:266548 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 224fb6fe-5e9b-49d3-986d-1422a89b8baa CLINVAR:37658 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0244233e-75aa-447e-8484-e64f7d4e012a CLINVAR:37658 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c9c6806-d0dc-40d2-8f32-65bc29e26aa2 CLINVAR:55544 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f592cbf9-2e69-4137-8f26-9f3ab5230cca CLINVAR:55544 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b66d0aa0-35c8-4d0b-87c8-09d7ee005465 CLINVAR:266547 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b995bc7-0a8d-4916-87a2-30e0f654f732 CLINVAR:266547 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6604ee66-0d4f-4878-a252-87207b593143 CLINVAR:55543 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 930b4f31-430d-4829-9b84-0984d0037472 CLINVAR:55543 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e606f1ce-c059-4473-83b0-b327f51371d8 CLINVAR:55542 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21c21ce1-3ec4-4a31-9c26-c548da9eadfd CLINVAR:55542 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8116f019-a7ce-410c-928f-dd145e38ff7b CLINVAR:96949 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f547cc6-480d-4ec9-ae8b-dc647338fd80 CLINVAR:96949 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d3bd32c8-faee-4412-9ad3-f7cda617872a CLINVAR:254467 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56a6ee2f-5afa-4589-9529-56415cc973f1 CLINVAR:254467 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bb96217-40d9-4f98-85f1-e890b1bab8e0 CLINVAR:37657 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1664a362-1e38-4d98-8c3a-93b2769dbb9b CLINVAR:37657 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4f777c1-2162-4478-909b-0084b0a4b4b3 CLINVAR:55540 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1a069c2-70c0-495d-813a-5bf03f57c528 CLINVAR:55540 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2a01101-3779-4f53-8f90-c2a635e3f8c2 CLINVAR:55527 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fee4a5a-f61d-4a0a-997f-92b4e9a2e13f CLINVAR:55527 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af30624d-1e51-4db6-89b5-6263f2f456a7 CLINVAR:236263 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed2fdf17-f875-4bca-afba-c6715792beee CLINVAR:236263 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d7854f2-d6b8-45e0-b4c6-dc64156270b7 CLINVAR:55530 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1743ad9f-37cd-48fe-bc9b-5e9bf24d6ee4 CLINVAR:55530 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee94470c-ed26-4a40-83e9-fed140b9adfa CLINVAR:55526 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7dc5fe91-6550-47eb-8425-ddb8c3cbeafd CLINVAR:55526 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 741e2337-a90e-4e6f-a73f-995b531ffed6 CLINVAR:232820 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ee6b8ac-9927-4d5f-9503-ce00fad0ca52 CLINVAR:232820 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c403d733-0132-4b23-8662-0582797aa9ad CLINVAR:55525 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e940ca9-44dc-4f3a-9348-4b873e0ad5a9 CLINVAR:55525 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 423097a4-d9f1-4967-84ef-85507ed9897e CLINVAR:17694 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb76b17f-772a-45d2-9a6b-e5fcdd1735f9 CLINVAR:17694 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 545cf40f-4443-44c3-9de3-6c462848b50e CLINVAR:17695 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b97df1a-9a5e-4bb6-ad1b-358484bbf27e CLINVAR:17695 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c9bf097-82a5-4ee5-9df3-da84fe03fb4c CLINVAR:55524 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e400067a-ec3b-4ae5-86b6-a054b117d827 CLINVAR:55524 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7642c9c1-de24-4af2-9784-9315e06f2fb8 CLINVAR:55523 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a1c6d29-d6eb-4b29-856a-3f74d70d7210 CLINVAR:55523 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 643495d1-c531-43d9-ab7d-ded900af42d8 CLINVAR:55520 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6011c716-4478-4abc-a478-ab67aecd6276 CLINVAR:55520 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e604f6c-1132-40fc-a97f-0f89dce973a0 CLINVAR:141536 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2925bb51-6596-408a-a80c-ecb482fd48ae CLINVAR:141536 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d116ee1a-5c58-4afe-890b-c1b50ff974e4 CLINVAR:55517 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9971aa75-7e08-42e5-830a-0ac7015d9a1b CLINVAR:55517 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e5d38c7-75d5-421e-9a1b-19861eea84b9 CLINVAR:55516 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f1342b8-a5ed-4a42-b3e9-4ff6a913af8f CLINVAR:55516 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7c962bd-5549-427e-bb92-25d1830142d2 CLINVAR:417832 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c13952c-5797-43f5-ab61-5832c60a395b CLINVAR:417832 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46aa422b-d193-4960-8aef-50edd9dab575 CLINVAR:55514 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4641498b-97d5-4635-b0e7-73365411895d CLINVAR:55514 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e174c47a-7503-48d6-a2a4-536c405dea3c CLINVAR:125820 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 189bde03-2f3f-4741-993d-c43e4d833139 CLINVAR:125820 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18fef555-9a91-40a4-98e3-12f7225c5edc CLINVAR:266545 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1800ec77-5381-4010-b029-74d20ea35c95 CLINVAR:266545 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c5f2354-4a84-4939-afb1-8fb01cf8c0ff CLINVAR:266543 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac3c4090-054a-4eaf-b0f7-780980cdbd42 CLINVAR:266543 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f2d8049-6b25-452d-9436-f23f73e41f9d CLINVAR:266544 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4080604d-23cb-464f-9d3a-769dcd3e3952 CLINVAR:266544 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f974e38f-cc6b-4e2a-9706-8d78bc037518 CLINVAR:266542 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9a4d16c-d776-4bfc-ae61-4b167f33c913 CLINVAR:266542 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e6bb5dc-5f41-40b4-8308-8374daae6720 CLINVAR:37656 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46993e6e-6d20-4448-ae65-f8dc846b3224 CLINVAR:37656 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ac59b08-0439-4de9-836f-7ac69a3fe60f CLINVAR:55511 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2645583-fbd2-4aec-9cb7-b94d867cf35d CLINVAR:55511 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98ce72fb-9e28-4ec1-8eaf-8d290d76c44c CLINVAR:55510 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 056383d0-db0e-4235-ba2b-fc49334a0621 CLINVAR:55510 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02175775-ee19-4feb-87ff-e13ac591ddb6 CLINVAR:37655 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82cfa3b4-7f7e-4a8b-a2d0-b2425dc9009c CLINVAR:37655 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 714f77b8-4ff6-4e4c-90ba-40ea06d489b7 CLINVAR:55508 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1ea4e68-9ed9-4e17-91d1-a0ef9bf53eac CLINVAR:55508 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bef74bea-a5ba-4b6a-9c4b-c932a74ac748 CLINVAR:55506 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e84e992-3587-4ad9-9a21-40eac08ed459 CLINVAR:55506 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 056c2e62-6011-4834-b978-9e94951fa594 CLINVAR:266541 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5215c518-c580-4964-95fe-ea3c7438fa18 CLINVAR:266541 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca227f3a-ba18-45c0-921e-df7447a1e8f4 CLINVAR:440481 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c16d4cf-a63c-4268-9afe-af33ad2e4e34 CLINVAR:440481 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d3c80fdd-d886-4122-a1ba-ba9c999b090a CLINVAR:55505 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59b8f3b2-760f-4c17-897b-56a374c0adf5 CLINVAR:55505 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b745439a-2139-4aa3-a737-681868c7e90a CLINVAR:236262 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f125d076-21c0-4308-8be1-b486df3521ad CLINVAR:236262 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c44936b-d241-4ff1-a7ed-9fd195886e9f CLINVAR:125810 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6eaa9028-0240-424b-a908-6524b4135210 CLINVAR:125810 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33ab12f8-b438-4230-a3fb-17976f8bf6e8 CLINVAR:37654 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a287f8a-f927-4d9d-92db-7bbb804dd9f3 CLINVAR:37654 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 182c7cc7-b839-461a-a078-06ff6b8d2bdb CLINVAR:254466 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e90d0f0f-0541-443a-8601-fabd18608176 CLINVAR:254466 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 49bd5238-7f91-430f-9991-1f5581f01844 CLINVAR:55492 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e5f955f-b1e5-4525-ab80-383f3153079a CLINVAR:55492 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08d3e0af-a637-417b-86a4-2f18c8d5290c CLINVAR:254465 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d451a3aa-91e4-4e27-a50e-259ad6a889e2 CLINVAR:254465 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57646488-1817-4062-b1dd-004bf3d7d3e6 CLINVAR:185261 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21c08617-33b5-4b23-9fc1-3d819f90299a CLINVAR:185261 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77317d0b-810b-4e08-b246-0b2774184486 CLINVAR:548205 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 170eb07c-ccda-460b-b13d-d3ac92e4ded9 CLINVAR:548205 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad360ea3-f738-4d1f-830a-af5a9a63d60e CLINVAR:96946 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc6739c8-d81a-43ff-b1f3-a1e3f22b2b79 CLINVAR:96946 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ac591a2-91cd-49fb-9e30-3d160c13f834 CLINVAR:266540 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82e29fa5-e867-4718-ba12-ae9695d99f47 CLINVAR:266540 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25aa7a8d-cdac-4817-b92f-828b4fa69d32 CLINVAR:17677 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf6e1927-a202-4b34-a731-545a2e4f1a0b CLINVAR:17677 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5899565d-c93a-4195-9c3b-c6fbb91aef88 CLINVAR:55490 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb4106b9-6bd6-4c0f-807b-dd721f980046 CLINVAR:55490 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1bd9192-fe02-4d17-b034-91ef37615a84 CLINVAR:55489 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5d29d26-aa9d-469a-a715-5bdaf49421fe CLINVAR:55489 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63fa9945-94ec-4705-bc43-2fdd885a266e CLINVAR:37651 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a308dbe7-f1e3-45e7-93c9-11227f3d5c06 CLINVAR:37651 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 065b312e-6e35-4625-a345-7708c7731461 CLINVAR:55486 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d0b8d3d-a398-48b2-8671-0e66aaf1b552 CLINVAR:55486 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f6a94aa-d1a7-45bb-88cc-2ed84c672f51 CLINVAR:801086 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e36a00e6-cbfc-4cae-a8bf-608ed7904de7 CLINVAR:801086 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d9782a62-e18b-44b1-80ef-58916f95b264 CLINVAR:55482 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3de1776f-835d-4f53-acc5-13c993a37f5f CLINVAR:55482 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6c6c26cc-98ef-4fd6-b441-14a97f47419c CLINVAR:55480 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3108f3a-f325-4bc5-99c7-0feff8d677f0 CLINVAR:55480 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e33489a7-733a-4143-8bf6-a30e266f3e9d CLINVAR:548260 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58839438-08a6-4735-bead-fee2df9cfa90 CLINVAR:548260 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59f7e647-6403-4bb8-92d4-703186b8ac9d CLINVAR:245901 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c3e74b1-fd38-4cb5-a816-8d75958e7ab3 CLINVAR:245901 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4856d9d7-2c20-4d05-80f5-3afadef95ea5 CLINVAR:548214 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 545da803-e16a-4663-83b7-a5df1b3c61e6 CLINVAR:548214 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f96fecd7-ace3-4f4e-bb23-9ce7bb6a95ed CLINVAR:548278 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddfecbc3-2547-4cd2-a491-653e0bcc7879 CLINVAR:548278 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4db1319-ddf3-406e-af69-acebdd472b7a CLINVAR:55459 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cffd104-6001-41e4-9cca-0d302820fe51 CLINVAR:55459 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel edfb70f9-0989-4746-be87-a6a50b030e50 CLINVAR:266532 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 330f94e4-b09f-4696-9193-95d99eef3bdd CLINVAR:266532 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60a05705-20be-4d5e-a4cb-984b283fbfd7 CLINVAR:55477 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adecc385-0ad3-4d9a-a35f-370e88fb7b99 CLINVAR:55477 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de692d8d-90ca-4f76-921a-fdc6f6dfe814 CLINVAR:37650 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f09cd873-12ac-4ac9-a47c-729f9fff6377 CLINVAR:37650 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1946f74a-2cf7-4d25-b09d-fa7cca543445 CLINVAR:125807 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f8c55a7-eda1-450b-9c89-4b2e537ec8ef CLINVAR:125807 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9139c27d-ad9a-49a2-a989-f6c8adb96a26 CLINVAR:266539 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 804abfbd-35f5-4d6c-b6c3-68e0a365b035 CLINVAR:266539 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5bf85c3c-6fbb-411f-b415-39a8be8d1148 CLINVAR:266538 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e50d8ec-713b-436e-9dad-35355fe7beaf CLINVAR:266538 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00b500e1-d1a1-4a1f-8a35-99ef04d6ed38 CLINVAR:55473 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4540ad3-90e3-4b44-af2d-409c345509e4 CLINVAR:55473 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6c0f8cc-3d16-4eaf-8b4b-f90e6c3011bf CLINVAR:548308 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1becc305-8a66-4a4a-9069-7f68c4f47d28 CLINVAR:548308 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d369d21-efa2-4e46-ab5b-20bb7ea75eab CLINVAR:266537 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a63f7986-80df-4264-914e-2839302732bf CLINVAR:266537 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc1eb67e-1054-403c-8787-611853877991 CLINVAR:231997 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cbb54e2b-7862-41fd-b8e1-233623cab8e3 CLINVAR:231997 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0535760c-df4f-44fc-bc8d-fa6671cb000e CLINVAR:531399 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3affe724-c715-4ea1-861f-38f6ff6e8a51 CLINVAR:531399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6a8d6dd5-1031-4d86-af55-388dd232fcd2 CLINVAR:254464 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ddeb42b-5e34-40ba-9ec4-ba6fe8f453e6 CLINVAR:254464 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05c8a8df-0dc7-4af4-b1c2-dd78983cf304 CLINVAR:55471 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c675415-db0d-485c-aa5f-923d44b7b6dc CLINVAR:55471 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6ec892c-7ea7-450a-b06a-3f3517c65071 CLINVAR:55470 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb2046ab-45d2-40db-bb0f-c424aec0f273 CLINVAR:55470 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9518482a-22b7-4cad-92cd-990b0faec0ba CLINVAR:55469 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90563aa2-3954-482e-b31d-d58d5425d6a0 CLINVAR:55469 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 325aeb40-4144-4227-be27-5b890ed3d673 CLINVAR:266536 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4377359-7399-4b3f-a8a4-c74d43f3b8b4 CLINVAR:266536 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 558d9b88-bf27-417b-bf72-e7467e58e5bc CLINVAR:420420 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19dd6d32-a010-4e82-845c-ce46a55a47ba CLINVAR:420420 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91e6e291-2a4c-44a2-ada2-ae9a83e52faa CLINVAR:266535 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78654e20-55fb-4828-9664-31e593948f0d CLINVAR:266535 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel afab2cea-ccd2-4a27-979a-81cac42d43e8 CLINVAR:266534 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c4da87e-9098-4777-a30b-e2c1bbc95ce0 CLINVAR:266534 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 520ef77c-7402-4b2d-b4c6-7f4e7eb154ca CLINVAR:55461 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68355b96-e999-4151-b79e-8317bc14a168 CLINVAR:55461 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a98a97d-850d-46f0-8bb6-c19200071292 CLINVAR:548204 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f1abe79-3dec-4f94-b3d5-f7c883241efa CLINVAR:548204 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 860ef71a-92f8-4ac8-812f-aa57a80decf1 CLINVAR:266533 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 031352f1-03a0-457a-ace9-41112d01bf98 CLINVAR:266533 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79326c2e-32e1-4b22-bb8b-7d7c517b9f6d CLINVAR:55458 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b577f8f-3ddd-4b05-b66c-bcee0f042548 CLINVAR:55458 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d8c1b36-ffd5-4a28-9fac-4904305a4a24 CLINVAR:55457 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4060456-6fbc-4250-8bbb-969c35b2dcbb CLINVAR:55457 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72037b0c-da91-474f-89c2-6182ac687af2 CLINVAR:37648 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c55d9f4-289f-4a14-a8c8-fd8f655a0a7b CLINVAR:37648 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 774efea5-1fc8-418d-b2b4-3483f986023a CLINVAR:140168 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b771a21-61b9-4d4e-8959-c227f91746a0 CLINVAR:140168 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6421c90-f986-4be1-a0d0-f3536a0f1b19 CLINVAR:232606 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65fc5eca-586d-4690-9eeb-1062a427a1f9 CLINVAR:232606 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f01db814-97b6-4fe1-beaf-31fb4e08b4d8 CLINVAR:548284 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 193c48c3-1af5-4596-bef0-585b12960fad CLINVAR:548284 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d19ed4db-1aaf-4f80-87d4-7849c22d4d24 CLINVAR:225711 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7609c83d-b7eb-45fc-a072-ff7714ad36ba CLINVAR:225711 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f855794e-5a6e-419d-9d7a-c35edf042923 CLINVAR:232047 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a18a1e4-e79d-42ff-bd69-6af6cf154451 CLINVAR:232047 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1698953d-625a-41a7-a4b4-10938ffa4a9a CLINVAR:55451 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3452f495-0c84-4343-892d-c60b82cd3b05 CLINVAR:55451 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed3134c1-0ee9-490c-9af0-0ade7ef080d6 CLINVAR:55445 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 431f3f69-09e0-470c-9cac-a8eb8bf8eddd CLINVAR:55445 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e6ce17f-b829-41c6-aba7-2d9c80001301 CLINVAR:91640 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de4d1fc4-2446-423f-bab8-2f62c9b4872a CLINVAR:91640 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3355057-7dc6-4bbd-a801-cd5016da3208 CLINVAR:55446 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f248b1c-104b-4fc0-b47c-fb360bfee36f CLINVAR:55446 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b67921b9-11d0-4628-9e80-afa45a2d4966 CLINVAR:236273 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c21b760-9bb6-4a2a-8e12-ada071296d6a CLINVAR:236273 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f66ffd13-699c-4e65-968e-59f6122529bd CLINVAR:37644 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8cf89130-6d59-4001-bbc4-6e64a0fe3f58 CLINVAR:37644 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b75c7eb8-ff4c-44a6-a9c0-e745ef010299 CLINVAR:37645 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9562c24-3e15-4c9a-9123-a262c6368f60 CLINVAR:37645 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0595943d-bc2b-4d10-8dfe-c32ed350b9b4 CLINVAR:55444 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75e78e43-b050-431e-8b2f-e7b182984ff8 CLINVAR:55444 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6086450-a30d-4098-a718-9bb6ed6dfd0b CLINVAR:230276 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72a48ce2-1c35-4743-96d5-9ea614538aba CLINVAR:230276 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa06b9e2-cb14-4f4b-9877-fca644b40efc CLINVAR:55442 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf0e397d-58f9-4933-ac15-47cb3bbb4411 CLINVAR:55442 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel edcc27f4-f47e-4bdd-afb9-6337e9115dfd CLINVAR:183180 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b91df0e-9d5a-4853-bdb6-601479776580 CLINVAR:183180 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8319b6e6-1f85-4a48-9eb0-4fc940f9d928 CLINVAR:548279 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56ee1fba-11e3-43e9-863c-859a3053d7f3 CLINVAR:548279 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51d543b0-96c2-4f4d-b76a-11ea0bfe80d4 CLINVAR:266528 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a26ee9f7-b0b3-4cef-8ee0-6706be36f364 CLINVAR:266528 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9df8bdcd-8f09-4d83-a237-cc583a8de8a1 CLINVAR:266530 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 754a90b7-c46f-4eb8-8109-b7d48f158faa CLINVAR:266530 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3d33ebb-5eb7-4f5d-8d6b-80c77651056c CLINVAR:55440 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8619ff5-e46f-42de-8926-0147870b25e5 CLINVAR:55440 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72b29b89-f821-4221-a0db-846362dbb50e CLINVAR:266529 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ebd27558-4cb1-4671-8455-f69e7171792c CLINVAR:266529 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f86d1f5-51f7-46fb-91f9-e8172c44ec16 CLINVAR:55437 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f98b37c6-62ae-4878-baab-c6b9baaf802d CLINVAR:55437 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b019049f-7f77-4beb-a97a-951048ba3b2c CLINVAR:548309 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f1d27b8-695c-438c-93d4-9ce4ce7a64c8 CLINVAR:548309 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1e238d1-a54f-4724-aa21-4b9a02306729 CLINVAR:266527 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db8b9f93-9f7d-47e4-9c03-84dd2347244b CLINVAR:266527 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 241dce91-ca6d-4938-8302-969fd8ae2bd0 CLINVAR:55436 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b3a7900-2c56-46f8-8ae7-5c7ccdaa8a95 CLINVAR:55436 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3bc48a63-2deb-40d5-a779-cf2baa47af2f CLINVAR:55434 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8902ffe-a4dd-4e34-8d67-1b92fc080ee1 CLINVAR:55434 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f814c41-8483-4d7f-b65e-c36466fd62e7 CLINVAR:55432 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aecbda27-a431-45c1-aca3-191bb3edf3c7 CLINVAR:55432 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8f82729-a74e-4a32-a6a4-5d07d79d0679 CLINVAR:37643 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 986e9f23-8042-4180-a5bc-c23d6c4db805 CLINVAR:37643 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4a0adcc-8b61-46a3-89b4-c818824fee10 CLINVAR:55429 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95d1da33-c29b-41f3-a7d5-b0adc665401a CLINVAR:55429 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d806bd7-70a4-4a9f-8a50-fca84c5c94da CLINVAR:125777 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65540613-006f-4621-b16c-6ef52d06e8c0 CLINVAR:125777 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8845a22d-6b07-405e-951e-21147ee7ab3d CLINVAR:55425 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e30544b0-ae92-4716-bfca-9e9bd5615b1a CLINVAR:55425 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4025821-0e32-491e-9b51-d9da57821d75 CLINVAR:55423 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 740568aa-2a9f-436f-ad54-e72f4e755ae8 CLINVAR:55423 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0bc100c-08e1-41eb-bd27-15111500431e CLINVAR:627968 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1c304e8-8e70-4f00-92ea-8478cf5918e1 CLINVAR:627968 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9cb04000-2d13-497a-8fc0-7759ffc24326 CLINVAR:55422 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b508dce2-a0fd-43e4-9dfc-ac0f4bd3a03e CLINVAR:55422 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc09c622-a1f5-444a-8b9e-c79cdb7b1f9d CLINVAR:548266 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0ff1d7f-57bb-4a90-bc91-a1e38a28329b CLINVAR:548266 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c10af98d-a9ff-4ccf-b6cb-11582159b919 CLINVAR:55419 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 759d16ee-cf0b-4406-88c4-59b7b659a2c3 CLINVAR:55419 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a117aff0-b132-4c16-a008-90ccdb7da3d1 CLINVAR:266526 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar badc14f5-8f9e-4ff3-b949-d1d928c11781 CLINVAR:266526 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6151999d-5828-4faf-9705-668c0e01a4aa CLINVAR:125765 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8e2e588-9a89-4da9-b74b-90205e87708f CLINVAR:125765 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12d3acfb-c3c4-4f34-96a2-29a3259634e6 CLINVAR:55416 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 952c78cb-5f56-4425-925b-bfc4c5393d78 CLINVAR:55416 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9437a344-e69a-41da-a5f8-f2921aedc61d CLINVAR:55415 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 877df487-3a74-41e0-8389-d360887c5bc9 CLINVAR:55415 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel db9af0b1-7070-4dfc-93bb-23e560f18c26 CLINVAR:55414 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82a46135-f8f5-4930-bd7d-08159705768b CLINVAR:55414 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6840cf16-93a7-4a87-9f5f-e23b2603affc CLINVAR:631061 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0b07d4c-b96a-4a51-b554-8e56277b2b2c CLINVAR:631061 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2176d037-0f92-4e49-9615-e1309926c3d7 CLINVAR:55412 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fadc237-6a0a-4b45-8623-a28b58d84844 CLINVAR:55412 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 146cf537-461d-42e4-b26d-28e5fc62a72f CLINVAR:55411 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72da3863-e332-4cef-9a11-408aefe62d0a CLINVAR:55411 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15440e2e-9769-4d03-9bdb-c8d90eb308aa CLINVAR:55410 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3bdb10f-aaf1-49e4-9eb0-600bfbd42983 CLINVAR:55410 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b1c5f25-e138-4f73-a6e0-d884499d37ae CLINVAR:230624 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d8e21d5-e436-4a23-aafd-40b3b7b78ddb CLINVAR:230624 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ca0bed9-623c-4694-899e-cf2950e34edd CLINVAR:254463 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69539213-161f-49c0-a25e-2479468b997e CLINVAR:254463 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a16679f6-0d8c-43a8-80be-11578024c5e3 CLINVAR:180698 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1910944-98b5-4878-996f-171fd621e2bf CLINVAR:180698 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6807f9c6-c35f-4954-9102-411e87445fc5 CLINVAR:266525 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9645a338-c57d-4f69-8a99-58d994db9ab8 CLINVAR:266525 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15473755-84c8-49b3-98c5-7e83dfb3a399 CLINVAR:431187 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cc962db-e93a-446a-98cc-40bfbe1e499d CLINVAR:431187 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53cfae7e-07f8-44af-8d4c-22713fc666a5 CLINVAR:55409 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92b22c33-76f8-4b7e-95ba-c4b99b4b52f1 CLINVAR:55409 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 589922b5-e815-4474-928b-d56bda89212d CLINVAR:55408 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f93e5072-562f-459e-8faa-734dcbc7f598 CLINVAR:55408 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9e7700d-1e27-4450-9ffc-4ee447eaf6c5 CLINVAR:254462 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb97655c-5749-4210-a607-3e482f364d0c CLINVAR:254462 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee7d3813-5629-4d53-bb65-f9afdba307d7 CLINVAR:55407 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1c11c27-e631-4dff-8afc-39c0a5872b51 CLINVAR:55407 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd76ed5e-1c1e-4080-a520-e96bd2231430 CLINVAR:266524 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d0c5c50-0634-403c-a5b9-963aab592b30 CLINVAR:266524 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e7f132f-bfe5-4c28-9bf1-8ae60d6ad9b6 CLINVAR:37638 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86ef0dca-bbf6-4c0a-9384-0248120dd6a0 CLINVAR:37638 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 724f57aa-d305-49d7-a4f5-a39e4cf6bb58 CLINVAR:55404 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1c57c98-5be6-4a1e-8c26-8147a90f8edd CLINVAR:55404 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4745394-4726-4f7a-a0a4-a8fc5f2a7cee CLINVAR:55403 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77a2c024-b517-4fe7-b6d2-86c187eda73d CLINVAR:55403 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dabcbbd6-87bd-4310-8d8e-97c25ffe5d6d CLINVAR:232915 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce0a48b5-205b-44cd-8cdc-a42fcfed12e4 CLINVAR:232915 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 21f3b592-2a17-4b49-ae6d-d87c36601e80 CLINVAR:55402 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e5f8e1c-979c-41ed-a2ab-cc21f5d76cc2 CLINVAR:55402 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e96f353d-77d0-416f-8fa8-ddb92c5af60e CLINVAR:55401 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d669bfca-01ad-4556-8c48-92ee9a2ab0ad CLINVAR:55401 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 315dc243-8c99-4439-a195-61a8d2d99354 CLINVAR:548191 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17eaecde-ec97-404e-b278-57f1e92d0183 CLINVAR:548191 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 61c151a7-bd0d-4af2-a37c-9ffc1e6108f4 CLINVAR:125763 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4c55815-f1aa-4963-8166-0151214fc49c CLINVAR:125763 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac23c523-fb6d-475a-9c73-19f4de590eed CLINVAR:55399 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5dedf153-9394-40c3-bdf0-886f76bd4685 CLINVAR:55399 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ebaaa08b-5a7e-42d7-b447-7fe3256bdffd CLINVAR:37636 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a2d6a4a-168b-49a6-b881-9b4322d70c02 CLINVAR:37636 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7bc4397e-7ef7-4bfe-9ffb-8c5edd7f8638 CLINVAR:55396 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53071313-ea7e-46ab-987f-47b3414d7135 CLINVAR:55396 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c259f3dc-41d4-4bfd-b119-3b7ed25caeba CLINVAR:55394 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ddd0b41-b10e-4c04-bcd8-caeae12e1471 CLINVAR:55394 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a74522e-de87-41ce-8919-b3c07a7c2020 CLINVAR:431272 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4520d3b-d2e8-4401-8ee4-2e7f77339617 CLINVAR:431272 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a812277e-688c-4a86-a74c-7cbf445830d6 CLINVAR:37635 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53d6fbcf-3f82-4f2b-ae0b-75ea586c491a CLINVAR:37635 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4f08fdec-a8d9-4514-9133-a64f258932e1 CLINVAR:55392 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85aae171-2755-488d-b938-f7d3b9abaf3d CLINVAR:55392 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bd04c7f-39bf-46fd-902f-32cb41c02ff1 CLINVAR:55388 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdf9e62d-47a9-4d18-b5a9-77c5ff1cf589 CLINVAR:55388 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2863583-d6a7-45e8-b92c-8b39044d38db CLINVAR:548238 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a1c4ae8-e48b-4d99-9454-f867fa54fff2 CLINVAR:548238 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b5f66fb-9ead-4a15-8a1a-f076514424aa CLINVAR:266523 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fdb937ca-4b83-423a-bf38-729abbbd1bfc CLINVAR:266523 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51c939df-2478-436f-b32b-c96746c53f0d CLINVAR:55387 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 393d44e0-8e18-4c02-8c2d-a6a87c854374 CLINVAR:55387 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 648fb90e-c4cd-4a70-860c-fc3c88ffdaaf CLINVAR:55384 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e5feb08-f399-4648-964e-ca6e4daf7c22 CLINVAR:55384 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 388bc53a-66b1-4dc0-9012-72e0621e771c CLINVAR:266522 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fa3cc6d-aef2-4e9d-998d-e819be9da2a1 CLINVAR:266522 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1efe70d-fd83-4b7d-99a6-f67d38da336a CLINVAR:55383 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfd232ed-0d3e-463c-89d6-48729290b466 CLINVAR:55383 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1a9950a9-78f1-44db-806c-7e7535355eef CLINVAR:37631 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bcc7f9c8-51a3-4520-a157-15902f86e8c2 CLINVAR:37631 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 330ea65d-79c9-4d20-9c88-5c8c14dee1aa CLINVAR:37630 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd3bf826-0cfa-42e4-8402-b249dd7ebe1f CLINVAR:37630 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29457773-5974-4414-ada5-d7eb8f167652 CLINVAR:37629 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5ad2065-c27b-4948-9ab8-26c91ea7b365 CLINVAR:37629 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c1a749d-cbd1-4828-819e-32dfeac8da30 CLINVAR:266506 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8f300d0-175a-4fe7-b151-48f5adb935d1 CLINVAR:266506 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5a66a9a-abef-4881-bb6e-e3e415a79289 CLINVAR:37633 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07d4e6c3-d0e8-4fe9-96c8-7c60e627f4ab CLINVAR:37633 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfc95d14-db26-4289-8c89-f3a11ba5052a CLINVAR:55372 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30351c29-723e-4449-839d-2c4e4baf9e9e CLINVAR:55372 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb4289e4-f570-4486-afc6-50475e027997 CLINVAR:37626 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5665d7d-e4d3-4687-8aa5-80afbb0db918 CLINVAR:37626 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f320661-1625-40a4-8067-870e022878e0 CLINVAR:266521 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bcf2360-f117-4dc5-a2ee-97f074463c28 CLINVAR:266521 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c2d5aa5-8da5-4bd4-92dc-ed891acecdb5 CLINVAR:55368 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe01e763-75ef-4016-92ae-c9cdcb1ad88b CLINVAR:55368 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e86372b4-5485-42c7-aef4-cd03b4cb0318 CLINVAR:548270 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67bb286b-6013-4bcd-94b5-b90799ffe2a7 CLINVAR:548270 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2f9248c-4650-420d-ad11-bf75db3e4cb5 CLINVAR:266520 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3509c74-4ec3-4bc2-83f7-92435c504a9c CLINVAR:266520 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d564cf5-b834-4a64-958c-57d9786b1ffd CLINVAR:246021 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba1589c2-8a0c-44cc-b9fe-54a91961a96f CLINVAR:246021 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e7b5386-8ea4-4e10-b778-2d3f7562b41e CLINVAR:125756 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c8b9077-37db-4327-bce6-6724e942f421 CLINVAR:125756 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02578171-468d-48a4-a145-ddf1ae5d6cf6 CLINVAR:531444 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cbf926a-9e73-4769-8da6-f0c47f48951b CLINVAR:531444 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 91502a7d-282f-4fa2-bf8e-61536b4e30a0 CLINVAR:55365 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9346c7dd-f743-49ac-829e-0e47dbff8ab7 CLINVAR:55365 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9022e283-834a-4b80-bea4-c8ed89bb0901 CLINVAR:55364 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a1b3061-1119-4641-ac5a-36dfef7261e3 CLINVAR:55364 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60f6cbd9-7fef-4026-ae68-b64ffdc33a25 CLINVAR:431271 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a03461a2-db21-4410-b59a-516b43f85048 CLINVAR:431271 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89724d8a-da99-499b-be35-5e88a588a69e CLINVAR:252385 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ec61f42-01d5-40d0-9050-dd69ce0996ff CLINVAR:252385 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 840d1f6d-6b9b-4d75-9883-159e89e32cf6 CLINVAR:266519 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4930d81-e135-4a7c-9f4f-28c6a3f989ea CLINVAR:266519 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22c883dd-b9e4-4757-a0e2-f29d5b8ab755 CLINVAR:55363 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75f5ba05-eae9-4aa0-911a-3e47ebb0b351 CLINVAR:55363 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d67d8d09-8a10-4e0d-99a9-5c832aae11dd CLINVAR:548318 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fb84856-2d67-48ee-baf3-b7bc1b0ebc5c CLINVAR:548318 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4887cd9c-8c99-4907-a1a0-6b09c88a9ff4 CLINVAR:266518 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83969a60-33cf-4db4-a607-e94cfbc0cf91 CLINVAR:266518 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 750c362c-cac2-453d-97d5-ab44459f53fb CLINVAR:266516 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53452438-f48c-4090-adab-0992a9bf3e3d CLINVAR:266516 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f29921ce-400d-4fe8-b22c-dec1b4319a10 CLINVAR:266517 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 441f1913-e61a-404d-a6a5-1aab3bd52de5 CLINVAR:266517 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38536bce-84c4-4ffb-a78c-3b33b0cad1cf CLINVAR:55360 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7f690eb-9fa4-41b8-8295-0509ceddb52e CLINVAR:55360 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0161e31-4028-4525-927e-bf29a997fb78 CLINVAR:431358 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6a6fd82-b945-4758-b55a-fdcabc11c76a CLINVAR:431358 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c96408a6-5a10-4856-8c3e-2f793675057e CLINVAR:37624 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfe58dac-688a-4d7c-9e1b-4de7988262ba CLINVAR:37624 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c62d2ef1-6cc9-48ea-afc1-a4cff1ab0f64 CLINVAR:55356 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 996917d4-ddba-4a73-9641-73946bac2be7 CLINVAR:55356 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a41872c-1321-4dea-91f6-5935a6830f78 CLINVAR:55358 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87906f85-d1f5-4ed0-a834-e098390b0310 CLINVAR:55358 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5199ef9-bf6e-4fe4-aab3-bd2f97fc1af3 CLINVAR:266515 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 605d22be-df4b-4dd9-9e03-f96e550b0d54 CLINVAR:266515 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d67a20f5-2f4e-4453-b5fe-9e373bfcb294 CLINVAR:37623 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a96b563-3999-41db-b61a-2c252e662dce CLINVAR:37623 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 415c9867-cb1f-4b89-a214-46c2c5d056fb CLINVAR:254461 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 141c0297-21de-4072-96ab-b9f97ec9a55f CLINVAR:254461 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0e6fee8-959c-4087-8934-485a2534c6d6 CLINVAR:55357 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2be2c851-7016-465d-805b-8e3220ea6a47 CLINVAR:55357 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75b80554-3bc6-4546-a312-a92f67ec0332 CLINVAR:266512 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da9cc619-4ba6-42c9-ba59-36051c504b93 CLINVAR:266512 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dce45bc8-51b7-43ff-9c99-beeb32928e53 CLINVAR:266511 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4b9471d-0f10-4535-9bf9-832756fe26d7 CLINVAR:266511 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8539160-f82a-41db-913d-d7681ed36c91 CLINVAR:187466 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d49ed445-a981-4ef6-890a-3926632dbe72 CLINVAR:187466 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c315c1f8-0eeb-4903-9585-3453b19a0758 CLINVAR:266513 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20ce9050-47fe-4310-8b3c-26bc7c7def5b CLINVAR:266513 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb2a8288-cbf5-4ef9-900c-0763b58e8811 CLINVAR:266510 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a87207dc-beca-4115-a50b-1ba0e7a55bfb CLINVAR:266510 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f80e6df-f432-4c6c-ae43-f7a24104cf95 CLINVAR:266509 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6df4a52e-49bf-4b5d-b2dc-7f6bc190b95d CLINVAR:266509 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8328e66f-7e93-4eab-b0f7-804752afa7ef CLINVAR:548322 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddc5921c-7a2d-4453-b625-74f3e1380d84 CLINVAR:548322 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47036693-2bcc-4aa0-8e91-4e3eb64c2417 CLINVAR:266507 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 836a0b07-dbd0-4b34-8cdc-9538aa5c4454 CLINVAR:266507 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10a3105d-e135-4762-90a7-d40d1a637e20 CLINVAR:55354 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91ade903-375e-4231-985d-15327af23c5f CLINVAR:55354 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76d27c73-6e2c-4657-9d16-01026355ca51 CLINVAR:55353 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93313dff-d27b-471c-a0fb-bb787c6b5d06 CLINVAR:55353 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 125f078d-0a20-41fb-8098-8edc6aa774bc CLINVAR:231083 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5803c439-0224-42bd-95eb-3ff95b52ed77 CLINVAR:231083 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c39d7da-1269-4752-b2b4-8be8d4ca11e3 CLINVAR:409305 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 493f635f-2cea-4a6d-868d-270d4fd39437 CLINVAR:409305 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 19a1c51b-766c-4ea3-b654-99eea169e705 CLINVAR:183178 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bfb981d-2a0c-4660-b57e-c3dabb6f202d CLINVAR:183178 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 174068a4-e236-4435-ba97-e4b5e29345d3 CLINVAR:267569 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3826afc-ce23-4671-9f5e-c706433e5288 CLINVAR:267569 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1318dd9-5067-409f-8c2e-9ccc7c6b433b CLINVAR:182165 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc0f03d3-221b-4128-9f3c-80b83baa7f4e CLINVAR:182165 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5452a8ad-0ad8-4fd1-9910-869cf7ba3d3d CLINVAR:55345 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 939d75b4-fd68-42b1-8d64-f1c618989b3d CLINVAR:55345 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a321d5b-c32c-4e30-a575-318c56d86985 CLINVAR:868490 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b091e450-57e8-4b4d-93a5-2c54d0d32c8a CLINVAR:868490 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 54bb2dcf-6866-4053-90b1-5a5f5e9e4f91 CLINVAR:55344 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6976ee00-70c2-45ae-b72e-bec5192329b9 CLINVAR:55344 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35c65898-7f5b-4443-9455-634ee32d9d8d CLINVAR:17679 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec4f6495-6856-4988-952b-57dc8a420a55 CLINVAR:17679 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af936d2c-5969-49a5-bdba-ab8a7183d83c CLINVAR:37616 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9cb7e12-f34c-441e-8dd8-fa3aa7fda499 CLINVAR:37616 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d98e634-b82d-4fb6-bff8-50010261ba9e CLINVAR:55338 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfda0bca-471d-46b9-a1b7-523df3f6e390 CLINVAR:55338 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5097718-97fd-4dad-ad70-8697ea8a6b17 CLINVAR:55334 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar faa4d6ea-c4c8-4a51-b2aa-4467aa956a97 CLINVAR:55334 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ea33da5-81f6-4a28-b267-eb4b2624a36c CLINVAR:252399 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 282901d0-5cce-426b-9941-884b27444e37 CLINVAR:252399 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1032734d-4ad2-4c7b-b668-1d08a07ed1f6 CLINVAR:417822 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21511580-ab6f-4dc6-ab6d-e2be372033fd CLINVAR:417822 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9c7881c-66c4-4a99-825c-5a76f44c4c5b CLINVAR:254460 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2aa515a4-7983-4fd4-9cfb-a6afb6ef6be1 CLINVAR:254460 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7553cc8-2616-48b4-9bd6-74532f41af5e CLINVAR:373826 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b1b92dd-4adf-4bca-9e02-5e1226592b04 CLINVAR:373826 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fce44e92-1c99-400a-96fa-8dcfd1f772f5 CLINVAR:55327 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d12a55a5-3180-4d1b-8f78-2e2639d2ea29 CLINVAR:55327 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7d1e79c-f7d6-4201-84a4-7d701bdf72a2 CLINVAR:55328 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31bfe8b0-ddf6-4ddb-9c20-fd46bfbe39c0 CLINVAR:55328 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2aa83326-0888-46e3-961d-70bee7188f29 CLINVAR:125737 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar daa0fb0c-5601-41e3-9c96-f5791cf58837 CLINVAR:125737 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a49f6292-c454-4c1d-80bf-ecadf111da69 CLINVAR:55326 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe946125-ac9f-4730-876c-024672f153e3 CLINVAR:55326 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 69c8f30c-de2d-4f49-a439-e06cce8ea6da CLINVAR:266498 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 153af4a4-9182-4a6b-8834-acc503cc4641 CLINVAR:266498 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 691d07ea-ffda-43dc-9409-3a7576687477 CLINVAR:55322 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 658fe826-33bd-4fb8-a732-9266385ff428 CLINVAR:55322 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dcc7cd67-e099-41f7-a544-427351ec9bf4 CLINVAR:548310 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0bd45b9a-83fb-401f-bf39-ff73d3f7880d CLINVAR:548310 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50b4af1a-7325-470a-a24e-c6f2a83bfe4a CLINVAR:254459 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 131144be-513e-4d44-8adb-8dbacc3083db CLINVAR:254459 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d320edd-8787-4f61-ba95-98d6d67b8b10 CLINVAR:55317 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfc1d1c2-475c-4e7a-9823-0149c8e1b502 CLINVAR:55317 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c279e1fc-e840-4ed4-b449-a85bc54ddf34 CLINVAR:266505 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4c8e030-83f2-450f-9bd4-5fbee48059a1 CLINVAR:266505 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfd285ff-e663-4e84-b8fc-36cc59ebcd85 CLINVAR:431357 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8abbb40c-b196-44bf-8482-e92874bb406b CLINVAR:431357 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4dc0927-5bd0-4388-b902-c619202e9295 CLINVAR:55315 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a96d611-5973-4ecc-a007-55af83f9960c CLINVAR:55315 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc3e72bd-fa48-4163-91bf-f8791c9a356d CLINVAR:55312 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a75dd239-d3a1-4ab5-9d26-3b612e25e71b CLINVAR:55312 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d9afc36-2404-4c58-87e1-99eed47c5734 CLINVAR:433718 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9a922bf-ef41-47d3-895f-11a4c512c88c CLINVAR:433718 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel adeb54e1-b1a2-4ded-be1b-2964a294993a CLINVAR:55311 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ffaf4a6-36a0-4543-bd0e-8ff096d4918a CLINVAR:55311 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bef8658c-b073-4868-a65e-aa00852bb9f0 CLINVAR:254458 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3f63692-fece-45cf-869a-fd031f758d02 CLINVAR:254458 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e91bb3e6-0cab-44a8-8789-eee2f84c499c CLINVAR:266503 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 573244f4-f101-4169-9e29-4d3ff2628a0b CLINVAR:266503 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6046e308-06fe-4ec3-a0f0-9b531d45a895 CLINVAR:125733 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ac7f6c2-0391-4c67-9af3-6cf35d9f4f12 CLINVAR:125733 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93c6b211-6a6d-401c-80c6-da94b6c80f0b CLINVAR:266504 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a862f8fd-7af8-4648-bf3c-e1a6e04a50ea CLINVAR:266504 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79caa62c-e603-4d68-8f46-cc57a2926ae1 CLINVAR:252882 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93ec68b6-c7fe-43f1-a61a-7885db826959 CLINVAR:252882 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88ae04c4-fd6d-437b-92ed-a9d81fec76bf CLINVAR:266502 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7d9a010-9614-47cd-ac5a-c8ae226cbb7a CLINVAR:266502 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db1fe754-2411-4252-9ffe-53b014f1e37b CLINVAR:55305 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 359d6624-1614-4daa-9324-276b0d5a6b89 CLINVAR:55305 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fddd6d55-4be2-4566-beef-691a3aca6874 CLINVAR:266501 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cf398db-0f82-4484-a563-717c4da9395e CLINVAR:266501 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 016a05e5-0230-44df-af34-37c743a0c6a9 CLINVAR:266500 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4216605b-06e0-4f38-9f25-ca954fc8f2c7 CLINVAR:266500 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56066850-4abc-4d5b-9948-f1d57ab8f20f CLINVAR:266499 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f63a75a-d6cc-41f6-b5b8-f9e35ceeaf36 CLINVAR:266499 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 73a78068-62a1-43d6-a098-9ebf84fdd339 CLINVAR:125732 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04117054-997b-4980-ada5-aaecc55322f4 CLINVAR:125732 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 083c3984-77a6-4897-8bb1-a8964cc640fa CLINVAR:548257 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec6962f2-516e-4f8e-b132-4dca35d9a7a8 CLINVAR:548257 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c82767e-d4a3-480e-bbd0-e6ffad1d0b0c CLINVAR:55300 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b14f5d1c-669d-4e17-92e5-ea6092d8fb4f CLINVAR:55300 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f26bf7ed-0553-41a3-b9db-84c6a6de0e1b CLINVAR:55299 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c02273e-9294-4eaa-801a-92668af25421 CLINVAR:55299 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7f5b10f-522f-4c91-a33a-fefcc2f9efb7 CLINVAR:180697 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0bff538b-95bb-4c7a-8265-ee78c7cb9121 CLINVAR:180697 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f79fad2-f78a-439d-9082-a341211c1719 CLINVAR:55298 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8edc9add-7feb-4273-9062-549a63b44a1c CLINVAR:55298 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8bdd6388-ba0a-4079-8f6b-47a6d14f7ec4 CLINVAR:441347 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 300d7732-95fb-4208-8647-7ac304256aed CLINVAR:441347 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 137cdce7-5f6b-4813-991c-e77392c66887 CLINVAR:266496 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d614a5db-ff8e-446d-9def-94b53daa3ffa CLINVAR:266496 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a0af06f-2a14-41bf-a384-fd3f78504c33 CLINVAR:185295 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 881a7662-7c63-47a6-ad73-ca4d674981c4 CLINVAR:185295 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d19be48-08aa-48cf-919d-48b3a1fb1186 CLINVAR:548218 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92306942-1df0-4780-a9fa-28fa2011a622 CLINVAR:548218 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6830af6e-0a01-4ef1-9ee7-f90f34b67587 CLINVAR:55291 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92a5c9d1-3980-4fb3-9b39-84370e23e86b CLINVAR:55291 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1842d0a-71c7-4992-8dae-62a4a065442a CLINVAR:254457 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3913530c-bc7f-40bc-afb7-5877b732a922 CLINVAR:254457 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c782007-5e40-449d-9ff0-af2ed1ac7f7f CLINVAR:55290 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68144242-36e2-428f-a353-44c28732edbe CLINVAR:55290 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 206dcc35-c6f8-409d-b02c-334045f53431 CLINVAR:142334 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b709893b-eb97-4700-8808-325617d6772c CLINVAR:142334 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43b1aad9-a2d6-4655-a56f-d255c55f8652 CLINVAR:420037 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51a61d72-137f-4aad-bad8-2015b0b55e87 CLINVAR:420037 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 671ae5fe-da17-4273-b186-5b77071e7049 CLINVAR:266495 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b789efc-47d0-4079-9172-6381c10c538f CLINVAR:266495 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e57832c-6957-4678-8c09-0e0bd6332079 CLINVAR:37610 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar affff5bd-52e1-4996-9413-f6089bd1fd31 CLINVAR:37610 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2aa9ec9b-0b56-4fdb-b4de-1d8e4128430f CLINVAR:125730 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2cd8537-9595-4289-9f9b-c11e589dff87 CLINVAR:125730 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a40b3406-b039-4972-bd54-04591a30a572 CLINVAR:55282 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23b21227-f733-44b5-85cc-0c7d3f097ab4 CLINVAR:55282 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18223ad2-4aaa-46ba-aaa3-20454814123b CLINVAR:55281 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a241420a-f6bb-42d5-b7c1-c05478fe83b4 CLINVAR:55281 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3721da8-e4c4-41e5-a12b-efcfec7d2d26 CLINVAR:548258 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b357cce-7861-4dbe-b298-0bf33ab566b5 CLINVAR:548258 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7213508e-e5bf-4f94-b8c2-7846ee03a4d8 CLINVAR:266494 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 271381e6-b46d-441a-9127-6ecf10febe70 CLINVAR:266494 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3bef573d-3e8a-4285-8384-18a76a9dce20 CLINVAR:55280 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d81c11a-3a65-4019-826c-2bfb8786b802 CLINVAR:55280 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90636978-066e-4fd4-ab5f-6f3220d6d681 CLINVAR:37609 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c3aa28a-34d5-4686-a4ff-3d847bf41b1e CLINVAR:37609 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29dd5aff-01fe-4200-ac93-337b1dc9ab48 CLINVAR:55278 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a401c801-b0d1-47d9-8263-3de6f1e98cf6 CLINVAR:55278 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 193d58e0-7dd9-4a64-b026-e5e194970b24 CLINVAR:266493 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42947ceb-2cda-4d4e-a863-adf498fa66b2 CLINVAR:266493 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eac82c1d-a0c5-4752-94e7-22b88eec4a10 CLINVAR:55276 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8889c6d-288a-43af-be2f-52b2b0d9a87a CLINVAR:55276 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 80a5fce1-c9ca-44b4-b51e-900533e27e6b CLINVAR:55271 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03bd12ed-9f46-4b77-9ee2-ee022ebfd1fc CLINVAR:55271 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd5ed42a-cf74-4089-807b-52203b18d3c9 CLINVAR:55269 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4af0d0a7-470c-47eb-afab-04331ef41e5d CLINVAR:55269 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa1b421d-37e2-4a3f-a235-cc459144d849 CLINVAR:224424 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7054ab3f-11f5-45dd-8ed8-aa6c7f921bbf CLINVAR:224424 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e24612d-8f08-426e-8719-89b1fab16361 CLINVAR:219511 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31452bd6-ad81-4fd0-9789-9159429fff13 CLINVAR:219511 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac22a13a-84da-496c-a269-59de09a1275d CLINVAR:266492 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46acbd13-1e2d-486c-a171-e6f0a1e39b59 CLINVAR:266492 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 322f11fd-4112-49d7-b5b4-f1157a9d593c CLINVAR:266491 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab6ec74f-db2e-4584-991d-39eee6de20c9 CLINVAR:266491 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88e5fc51-5481-4061-92b7-8c584bee0c60 CLINVAR:252434 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cbb6d289-a16d-42f6-856c-eb7675a010e5 CLINVAR:252434 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df452116-71f6-405a-8098-7e146f12c776 CLINVAR:548276 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec7446ea-5808-45f4-aab1-d9110a644c6b CLINVAR:548276 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d5881dc-5714-4e72-b514-83f9aa4dc9f8 CLINVAR:125728 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b6aa7d4-a6d7-453a-aa43-e3f98d9ef0ff CLINVAR:125728 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef44eb86-778d-49b8-9b70-5189c4424a31 CLINVAR:55263 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59b124a3-891e-42d2-8962-b64cd43086a2 CLINVAR:55263 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c07d2f6-ec65-42ac-b911-46027f5cb7ea CLINVAR:37607 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c91d5a6-3946-42ba-92c2-0da73f74713e CLINVAR:37607 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83fe7487-19cf-4a4f-9f43-403c8c827602 CLINVAR:266490 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11e89799-b614-4a5e-8ecc-aae8cfcf4538 CLINVAR:266490 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 139d763b-751b-43ee-b71d-47e998b0016a CLINVAR:55260 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a247387-2bd8-4b6b-a544-3406a01a1339 CLINVAR:55260 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f398edb-86bb-421e-93b0-45d685c54bd0 CLINVAR:55258 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b8c08f8-5dfe-4feb-8815-07f296bacfd6 CLINVAR:55258 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2908e18b-49be-4b88-bfef-6070f62376a4 CLINVAR:430604 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ac79b09-ffdb-45a6-846a-7152cd0e9518 CLINVAR:430604 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2297d739-472a-404c-b9bf-aafdbc6e75cc CLINVAR:55257 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 754fe80b-f570-49a5-8f3f-61abb71dd987 CLINVAR:55257 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 241310be-7ce0-4137-a34f-57d9014248b0 CLINVAR:125725 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 795f28e7-7879-4bf0-88a4-bcb77ffb4b1e CLINVAR:125725 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f956454-c5b6-48c6-9fc5-24c554b64587 CLINVAR:125722 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 232c0f62-9007-4b6a-97b9-d6d42f42073a CLINVAR:125722 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ed5afb4-7167-46e2-b268-a7313099e04f CLINVAR:55256 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0366674-c4b5-4ab1-92ac-edcfc20dd21d CLINVAR:55256 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 763279bf-ca18-4ac3-8aac-01f376d208f9 CLINVAR:37604 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec080bbf-1e6e-4752-b370-4977b6e7127d CLINVAR:37604 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f8f8a713-d24d-4a9e-998e-e72552390150 CLINVAR:267552 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e25b6f5-6383-4275-bcbc-230070ab7782 CLINVAR:267552 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7575dac3-7470-41fb-a02e-151b5af4fc2b CLINVAR:231678 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3289b7b-8601-4179-b477-59f838897106 CLINVAR:231678 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c27ed8c8-5ab6-483a-8026-e127b1ecd0b3 CLINVAR:266489 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1005d298-faa9-47d0-93d1-304a1067d329 CLINVAR:266489 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 776441e1-1988-4222-a51b-c4ac12107a5d CLINVAR:433717 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06767d61-0080-4bac-ac51-be63273c52a0 CLINVAR:433717 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 69a87c50-ee50-43e1-8676-d5efe6f89f4d CLINVAR:55250 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2f9ed62-d430-4215-88e0-d931b043be8d CLINVAR:55250 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f9d8bba-3718-4a01-9731-01481def237d CLINVAR:55252 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8189ab5-4eb6-4e99-b439-2b2b073c2011 CLINVAR:55252 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e04c103c-a1d5-4fec-90ec-427546feaf0d CLINVAR:55253 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b91aa29-99b0-4525-8741-d0e08605f9d9 CLINVAR:55253 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31c67950-245d-49ab-a1e5-e1f4eac8dd81 CLINVAR:141960 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e557819-d66e-4f07-93c3-e4196333484d CLINVAR:141960 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 403ea940-ff92-4c16-8bfa-4568c0e8b776 CLINVAR:55243 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bda7c9c8-aa0a-4629-9702-479bcb9ced10 CLINVAR:55243 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2294136f-64df-4229-b0a1-722c0c66e6b7 CLINVAR:266488 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0214c2f3-2a5d-448d-927e-4367b1f1a951 CLINVAR:266488 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9809899c-178f-4854-a2a9-1e7fc7d9d675 CLINVAR:55241 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ad31782-40ca-4f1f-9d80-80c375c0caea CLINVAR:55241 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c7d631d-914b-46a8-989b-f7e9dd6eea05 CLINVAR:266487 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61dd6b7c-e985-44a2-b147-e8f8183f5a25 CLINVAR:266487 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3f6088a-2bc7-42f7-b5c5-053915163984 CLINVAR:55240 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f62941eb-63e4-44bd-a433-2a3a0e1e960a CLINVAR:55240 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 136589e6-5406-410c-8084-bcfecacbe5f2 CLINVAR:548250 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09fe1967-5db5-48d0-8c83-73262b0ecc52 CLINVAR:548250 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0246f5da-2d2c-4322-84ba-706f02e3565d CLINVAR:55239 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84e9e9f5-9ab5-494b-a5d0-2fec993771fe CLINVAR:55239 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f40d477c-ac7b-41bd-bec4-cd8aa8adba1d CLINVAR:55238 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cbbe288-9397-47c0-af0a-036e11719475 CLINVAR:55238 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbe86545-9380-4d7d-8b35-59ee92cb2191 CLINVAR:548194 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47c33638-9dd4-4221-acd0-2cd8b01be762 CLINVAR:548194 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ff35332-32d7-491d-b3b3-1e17f4139c78 CLINVAR:254456 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8704590-1104-4358-9253-632629e84823 CLINVAR:254456 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3ab52c1-f4a6-4956-a7b9-60d9d56d272e CLINVAR:55237 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08894fc9-053c-4917-9668-0fd27560ce1c CLINVAR:55237 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4439d8d9-04af-4328-bf88-802dcca0bfd7 CLINVAR:55236 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16c2e3b3-33a1-428d-84b6-16d3a48bda19 CLINVAR:55236 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a726e199-b0b0-44da-a082-7513fcde7bce CLINVAR:548312 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe60ac9d-8dca-4096-b559-6b88599cba0a CLINVAR:548312 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 253abe69-4c53-4dc1-916f-a4c46721fc65 CLINVAR:55234 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c94868c-c891-4872-8bda-ac7f3f15d7fd CLINVAR:55234 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ff3ad3b-8942-434f-84f1-8f9ebaade6b8 CLINVAR:266486 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5656edd2-b098-4864-abc8-9a4ce5273fb5 CLINVAR:266486 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 470dd1b0-565e-4de8-9b84-ac49b50f6a01 CLINVAR:266485 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 131bfe4f-0948-42b1-9a62-8a8558b67efe CLINVAR:266485 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5cd0950-becf-4d24-879a-7f1da89b0e3c CLINVAR:96935 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f2f3cf4-6aa7-4c88-9215-461beeddf8ee CLINVAR:96935 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b923a3c-e79d-45fc-b001-0967e9b91376 CLINVAR:55230 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0056f419-f86f-464c-bd12-d267c0a94eca CLINVAR:55230 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32bfffbc-07e6-4b0c-8f65-ff4d27636793 CLINVAR:236272 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc0b49dc-05c8-46a6-806c-1f30a0fe7495 CLINVAR:236272 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 183ead4b-948e-42ea-bdba-39eb7ad50ab8 CLINVAR:55229 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3889ae30-0f01-45c2-af1b-6f928e16d72b CLINVAR:55229 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07bfb788-14c1-4903-8999-1f9a94016717 CLINVAR:266484 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 398963f1-0be8-42e1-baf5-0dc64f1e2b49 CLINVAR:266484 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 854dee53-797f-44c7-b45b-e80a89b5f875 CLINVAR:266483 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc495ecd-31e4-456e-a988-b6ae8aecebbb CLINVAR:266483 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4bfd68e-8bdf-42f8-84a8-461e7d943880 CLINVAR:548185 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04024c29-74c0-4001-b146-6e0f2a9801eb CLINVAR:548185 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc8ee0a3-2ebd-44b2-b615-648bb07cc02c CLINVAR:236271 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ecdcaee-a05c-4b99-8c60-12ab4c21b25e CLINVAR:236271 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a45509d-a80c-48aa-aea9-f18f24aa6a54 CLINVAR:266482 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74718a28-f40f-4c47-a9bf-1cd08b1718ff CLINVAR:266482 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7af4791-23e6-4520-8e58-299c516e7237 CLINVAR:266481 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c01380bc-0e2b-4a76-b420-bb56fe334a28 CLINVAR:266481 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 654b989c-900c-4481-afc2-31ef164c9e7b CLINVAR:266480 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21c657d9-6700-48a0-84ef-fa116902a009 CLINVAR:266480 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bc9ee98-31fe-4897-a2fa-b36454ac76f2 CLINVAR:55226 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66ce0995-b957-40ed-87a8-6eef594e82d4 CLINVAR:55226 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1fb71623-7e1b-4df9-8823-a6afb9e46248 CLINVAR:55225 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d21fec3e-4de4-45d3-8b65-8a49bcde30b5 CLINVAR:55225 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3890774-28ae-4efe-ab3d-eb4db842e10d CLINVAR:55223 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01171add-94dc-40ae-8e02-9f9ac05091f1 CLINVAR:55223 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43d69ddf-6b34-439e-98ab-4538ee73eabb CLINVAR:440477 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ccef691-74f8-4d64-bfe4-9fda08540700 CLINVAR:440477 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a13cb72-31c8-46e0-bb44-1eb3acf91230 CLINVAR:55222 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53de7158-ff0a-4c3b-9872-bc2d3022e875 CLINVAR:55222 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a729851f-dfae-4cec-9aa2-3d9d063f7878 CLINVAR:266479 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2344f374-aa96-4e05-be37-34ccbf47d135 CLINVAR:266479 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00cd4b65-0c54-4d27-b7ce-a2e8859ab690 CLINVAR:419633 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar feb4aa7f-55b2-4cb7-b2da-1dedcbb88425 CLINVAR:419633 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b55dfe2-7325-4801-b236-e9bc7d31fafb CLINVAR:55221 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7558b76c-8082-48ea-9b2f-4f4665a68d11 CLINVAR:55221 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea7e61db-2c54-4492-a14c-b9e75cc55f9a CLINVAR:186016 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78843c86-e7d3-4185-99a4-8569d866dd1b CLINVAR:186016 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b54b8481-f77a-493f-99b6-c26cef13ea2e CLINVAR:55220 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38cbbbe7-5125-4d0b-bc9a-9c11d19218f3 CLINVAR:55220 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 567d2a20-a67b-40f4-a4f3-7e98ce3d65a7 CLINVAR:431264 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc3b5951-a00c-410a-9456-13ed7d99c214 CLINVAR:431264 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8cff6e1a-7b62-468b-be24-5dbe04e7e4b1 CLINVAR:440476 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85ef59a9-0e27-4b9d-a624-a6141b5e6267 CLINVAR:440476 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc903110-de0d-4cfb-b624-bbb7c2ed52fd CLINVAR:55219 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2c06268-2d15-496c-b4e2-8d45f09e365f CLINVAR:55219 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b3c14c0-f81d-49c2-8488-06bdeaff5066 CLINVAR:266478 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec9e9b1e-a55e-4d56-af1e-2c2041481647 CLINVAR:266478 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b6b1610-584e-4dd3-9599-ba6d2146c2df CLINVAR:91631 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a72863d8-bf53-4f97-9aaf-b3c0a10d855c CLINVAR:91631 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efa36bf5-caaf-49ed-b709-7d2622815321 CLINVAR:55216 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed2d4b7e-6041-4359-bec9-4645bcf655ae CLINVAR:55216 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 94724d0e-38a3-483f-9b40-2ab62e8510d3 CLINVAR:55215 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2713b8c1-cfac-4432-9553-e0a36a28a8fc CLINVAR:55215 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e61c73f-dd02-4238-8f20-bdbc7b79a495 CLINVAR:246501 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03879838-0324-4229-825b-988ccdffab09 CLINVAR:246501 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eda22922-26ba-46c1-9efe-caedfb1dd095 CLINVAR:55211 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8de7cdf8-cb13-4b67-844a-dc208282dc1d CLINVAR:55211 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98dcc267-b2b9-493c-856e-96e3fb1a9850 CLINVAR:188413 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a21cfece-d141-4a51-8c58-41f09484e3e7 CLINVAR:188413 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 724055dc-1970-48ce-9046-9185d7de809d CLINVAR:245697 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c697050-37ce-48be-8501-8959a9896ac7 CLINVAR:245697 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57674561-a38a-48cd-a85a-8a74d9fd1a97 CLINVAR:254455 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f9f29e6-b838-48a5-9256-3528f3a91db5 CLINVAR:254455 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ed46166-0caf-41c4-98b9-2133032aa114 CLINVAR:37595 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbaac0dd-fb18-4a36-863d-4080081c088b CLINVAR:37595 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b27b0773-93e4-4ec7-9474-7b0208b86a48 CLINVAR:55209 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fcc1fb4-4c7e-4d8f-9356-08c5c5828c52 CLINVAR:55209 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e98977f8-97b3-4525-b55f-cde087887457 CLINVAR:266477 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9fe2b7c-af0c-46b8-8bda-0ec30aef4458 CLINVAR:266477 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c4f7a91-0c6e-4f4f-82a1-1f1f9fcd8c88 CLINVAR:216105 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cecf3b4d-5d40-47f4-9bd1-f3b34ff211dc CLINVAR:216105 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2feb1d10-21ec-4448-89b4-e7e5208ab114 CLINVAR:162502 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 573ad67c-f1fb-418d-8ac6-d0b9b07bd3b4 CLINVAR:162502 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97b339bd-76a3-4d76-8be9-e3f77ce51ea2 CLINVAR:125712 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44758b0b-2465-47ec-be21-c3ac52334e58 CLINVAR:125712 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 287d2051-8751-4ca3-bc96-be5644cc3b98 CLINVAR:55205 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5315bbc7-1680-4023-a335-1e6b6d693420 CLINVAR:55205 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa655d7d-4ac9-4cb0-887d-a4e0bdbfbb2d CLINVAR:55204 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e578a50a-30d5-4117-93d9-e93afef0a9c3 CLINVAR:55204 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 794e6cb1-5c81-42fa-90ef-dcf3b5e4b7d1 CLINVAR:55202 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68f629a0-e639-4992-a13c-b4bf23d36e5d CLINVAR:55202 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4832900f-3c92-4749-9098-64ec72d3002b CLINVAR:55200 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 049e49dc-f256-42e4-9bc1-2c2b0cc74481 CLINVAR:55200 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24d8fe64-083e-4f8e-adee-8eaa24b1bbea CLINVAR:55199 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 780f7b96-8911-485f-b006-ae2a2ff131db CLINVAR:55199 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 971262ce-2f6c-4399-8ee8-1eb95577b7fd CLINVAR:232619 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2de15fd-8af7-415a-8763-11b3f76c4a0a CLINVAR:232619 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1921b04e-7107-4a90-9316-eeb540053cc3 CLINVAR:37592 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af166950-c7a6-4b1a-a8f1-cec5e045be3e CLINVAR:37592 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cbbab57d-928a-4976-89da-0e3f403b7a6b CLINVAR:266476 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1bb8268-ffff-48c3-85d0-0ab857e01bea CLINVAR:266476 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82131945-9c41-4f00-ab54-2087c4650dc2 CLINVAR:55197 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88ece056-4532-4208-9ce6-234a5ba26331 CLINVAR:55197 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13e725ee-9ab6-4a9a-b12f-43d77b180e92 CLINVAR:419556 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7ac3b0f-1cdd-4d53-aaff-143e4fa097ec CLINVAR:419556 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7757fb09-bd1d-44cb-8037-2d0cb8b0e473 CLINVAR:266475 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65a482d5-c107-429f-aab4-57b4a3967f4d CLINVAR:266475 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e2097fe-5dbd-4a34-8fbd-5997c3b2909e CLINVAR:55188 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 462362b5-e19d-425b-92c2-6d1786c298a8 CLINVAR:55188 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aeeb95c6-75cb-4301-8b9c-24eb68637d4e CLINVAR:141260 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2bbd3858-39c4-451b-be8f-ebf733a22429 CLINVAR:141260 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62a59af3-0cfd-4dd0-838e-7dad7ec41db3 CLINVAR:55191 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b390fe00-362e-45a7-a1c1-d52c61bd60ac CLINVAR:55191 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe27a498-db72-4aa4-8a65-9d81cefa1360 CLINVAR:548299 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cbedb42-9e1c-4aa6-9984-63697484d870 CLINVAR:548299 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7f17fec-89d6-422f-b77c-af3b948e065f CLINVAR:266474 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47f7be02-8272-4ebf-a35f-5ac3db7132c3 CLINVAR:266474 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ffb869a0-bed3-4627-b191-a9299ee52984 CLINVAR:548269 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ee2d0dd-7492-4342-8e39-f8c17c490e8f CLINVAR:548269 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7acfe064-2943-4649-a1bc-9a814bf42643 CLINVAR:37590 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5120078-79a5-455e-a569-79ea3dd643ad CLINVAR:37590 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af403276-6dd4-411a-9c1b-a5ffb61cb443 CLINVAR:252380 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 807255a2-8bd0-48b8-9879-c99fe1d35733 CLINVAR:252380 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9d0bb11-3cc6-4b6d-90bf-e093a584b9fc CLINVAR:418999 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3509b6a-b5ae-49ae-95c5-5cbbe0ee9615 CLINVAR:418999 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e77a980-ccea-43d6-a79d-6aa6cf0eb3d9 CLINVAR:37588 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de724ec4-142e-4215-8255-f6f839a62291 CLINVAR:37588 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8bbb0d9a-49d5-40d9-8104-4602a21dc4be CLINVAR:55189 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23ed6946-c13f-4d06-ac50-c49016b45d01 CLINVAR:55189 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0a9226c-d3db-4aaa-bb42-a87d7882d4f3 CLINVAR:37589 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 399ccf2f-b5d7-4b16-920d-bbdcf3f553b7 CLINVAR:37589 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7dd0b6a-4477-41f0-92df-015b53bc5419 CLINVAR:55184 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05bd1afa-26bb-4964-abd1-3e67432ec950 CLINVAR:55184 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9190ce25-b519-4efc-be73-688c104c8d94 CLINVAR:142836 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc4d5e73-88ef-4776-85ab-a0b4262475e3 CLINVAR:142836 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fd10fbf-4c1d-4563-ad99-794fc2ad1ec7 CLINVAR:55187 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0ad196a-466d-4817-82ed-8e64c8c9b873 CLINVAR:55187 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6dd75836-1007-4ac7-bf82-7f69f69e1de9 CLINVAR:37586 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f603597-3ab6-47b8-8333-dc1e394c6615 CLINVAR:37586 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 179fa555-15ba-44f1-9a0b-fc29c81e57bb CLINVAR:188414 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67304670-a4aa-44cf-8435-75dfe2a8d7c4 CLINVAR:188414 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8231781-ca67-41c7-9362-41918db790a0 CLINVAR:186693 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9be228b6-5120-4268-80e1-9668ad9cb524 CLINVAR:186693 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a04a0b1-78bf-4ccd-bf45-d517fa646624 CLINVAR:266473 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4684b27-585c-4cf2-b635-94564407264f CLINVAR:266473 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 550efa77-c88c-41f2-b574-653351e3502b CLINVAR:252433 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c32f4408-3eb5-4214-bc1b-4e2083f21788 CLINVAR:252433 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd385b1d-471e-4c1c-a01b-c6edb28dfb4c CLINVAR:55183 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01568a16-0cdd-412a-bf90-52d61d50026a CLINVAR:55183 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab14d297-4798-4e7c-a77e-a5b512a69758 CLINVAR:55182 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88640494-6e1a-4cb7-af13-f39ceb9e95ae CLINVAR:55182 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3031043-0e56-4a12-bde5-c488abd4cbd2 CLINVAR:240803 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98bb42ad-7b5b-43e0-a1a4-08383516301a CLINVAR:240803 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f9d80e3-7142-4d21-89b5-d1bbfaaca19a CLINVAR:266472 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfd814f1-554d-43c6-b938-e3eb6f0ebc1c CLINVAR:266472 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32724daa-2878-4dc8-b585-272a7e90dac0 CLINVAR:267530 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de5a149c-7038-4c33-a51a-e26afa5a18ec CLINVAR:267530 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03f2e84c-455b-4986-8b80-c5038b25bb5f CLINVAR:55178 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5daaf137-ba16-4135-a43c-6bee82f99442 CLINVAR:55178 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 489a535f-3034-4c21-a164-0f2f13b457d9 CLINVAR:37584 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 921f43b6-cd7f-41e7-94dd-452686ed8ff6 CLINVAR:37584 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90f26379-4fca-416b-91cf-6f4e5250cca9 CLINVAR:91628 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8467f6e-3d76-472a-8f88-5ae88bf2042a CLINVAR:91628 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c4b2aa9-c887-404e-80b9-fba7aa9ecdbf CLINVAR:266471 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9dbf7958-04cb-4a71-93e5-285bbd013816 CLINVAR:266471 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 49871186-7e66-4ab4-b769-d3eb4369c9dc CLINVAR:96930 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dade3f85-479c-4aa0-8bba-68f1686935db CLINVAR:96930 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b265f9c2-f72e-4e34-98f5-096d55aa740d CLINVAR:431355 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6455b341-82a3-4c66-b014-4529ab336056 CLINVAR:431355 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a47bf57b-1675-486c-bffd-2362dee2a858 CLINVAR:266470 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69147569-ae54-4c0b-bfb6-7ce79b685db9 CLINVAR:266470 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6794b37c-edb5-44a0-a1e4-bfcef2afb72b CLINVAR:55173 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2733316-5dd3-41de-b0c8-068aec47f177 CLINVAR:55173 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02edb487-d667-43b2-95bb-e618cfe2005e CLINVAR:55172 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 113f6788-0ef3-4c54-b2ff-b349fc627f47 CLINVAR:55172 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1defec92-28cf-44f2-b69b-e29691965d6f CLINVAR:55171 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af51973b-0354-4855-b705-64c56ec60871 CLINVAR:55171 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b961625-a01c-42cb-8c9b-88d81fa6a4c2 CLINVAR:55170 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cc3005f-b978-4844-b636-f108cb0f424b CLINVAR:55170 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9cc23a74-542c-40e5-a4fb-8d71c23c80ba CLINVAR:17675 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d302bcfe-12f9-4835-bb93-904c2a96b00a CLINVAR:17675 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc44faa0-b0ca-4b0b-b994-d15f9f2625d9 CLINVAR:55168 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92820af6-5167-44e4-8813-c288402ae24e CLINVAR:55168 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 103a2492-0d6e-4072-9d29-3bc6ba42e74f CLINVAR:431261 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edb4846c-4946-4b44-a9e8-e6fe1d757d1d CLINVAR:431261 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35fe80bb-3101-4202-b888-d48c22074431 CLINVAR:266468 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07f8a72a-6b56-4553-8b74-9f4490e43954 CLINVAR:266468 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8ae0eb5-b26a-4255-b555-5eacdebcb59e CLINVAR:55165 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 014239e3-f023-443a-8ef8-a188c33b5934 CLINVAR:55165 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa7891a5-1b50-4e69-bfac-43690c94bf05 CLINVAR:55164 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e64d40c5-3d3d-456e-82d6-986554af5113 CLINVAR:55164 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c82b928-171d-492a-b15b-0a03dbf8f44b CLINVAR:266467 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd903bf9-5cbc-4c38-bad3-8b3afe6a7c35 CLINVAR:266467 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c338b22e-0c73-44ab-9012-bb821dc37d7d CLINVAR:125701 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce2615e9-34f7-44b3-8ce9-27bcf524e6a1 CLINVAR:125701 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 472ae911-a457-41ab-b4f4-ae88e3120911 CLINVAR:548254 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 350470cf-cc19-4e16-92a6-1a030bd3c260 CLINVAR:548254 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b640e01-7ee3-4e37-bf11-7bbb3b02cc43 CLINVAR:55161 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5bf7ad5-ebae-42ad-b8ce-317f49573c8b CLINVAR:55161 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c78333fc-b2ec-4b43-a463-fdd3b84cd9ab CLINVAR:266466 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73910de2-1539-410d-a0e9-be41e0e64ed3 CLINVAR:266466 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb7d3615-387b-44cd-a93e-0c5668edc4d4 CLINVAR:125700 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 407758ae-9275-49d2-a96a-8c1ad061e552 CLINVAR:125700 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc684230-25ee-45da-99a2-ea742090186f CLINVAR:548285 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d36b4068-366a-4fbe-918d-631040dc0c5f CLINVAR:548285 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e975286a-63b1-4bc1-a8d8-65e4d2a7a882 CLINVAR:266465 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9947370b-be02-4893-94b8-d3f1ce51b7a7 CLINVAR:266465 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 903b803e-b39b-4e9e-85a5-966b05a3ac49 CLINVAR:55160 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98554d55-9aeb-4148-9135-704bbc4baa60 CLINVAR:55160 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac9356c0-3020-4116-8aea-f85f0b2528db CLINVAR:266464 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b8b2314-c287-4113-8c83-d13b1e6bc9d2 CLINVAR:266464 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31b7070c-d679-42a7-9752-d4c1e323fd47 CLINVAR:55159 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 051109aa-b4a6-44cb-ac82-04c249c1d59c CLINVAR:55159 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac76a511-7fe0-467e-b2b8-cada6bf4e191 CLINVAR:548196 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e313f4ff-fc51-4995-9427-7529c1752d41 CLINVAR:548196 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d95d637-d908-4023-b763-97009fc301e0 CLINVAR:55155 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5da962b0-9a31-4211-acf2-5d21dd4c9610 CLINVAR:55155 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bc640ac-ffb8-42d2-b706-e26887377de4 CLINVAR:266463 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ddfcca9-a4f0-4223-bae2-c8d55bc8149b CLINVAR:266463 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd13897a-6675-4b90-8027-a0bd80e24476 CLINVAR:55153 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e947c93a-c0bd-4fb6-86ee-3231ec394ce8 CLINVAR:55153 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f3089e3-d0ca-46ef-987d-48d63c1948d2 CLINVAR:37579 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07d330a8-e0db-4c05-8eb9-24acf91b3604 CLINVAR:37579 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 728a46e1-94b6-4469-bcba-0943e9f75d3d CLINVAR:142996 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60b637c5-ce80-45e2-b6b8-b4c2d04958ba CLINVAR:142996 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e69e017f-f94c-40fa-9ec0-e5bad7b3f77e CLINVAR:548281 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56edce6e-7234-4990-b6f5-6802dbd5fc88 CLINVAR:548281 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ec29c0c-4aa2-4b77-b3ba-b9ab9f71513c CLINVAR:37578 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c16be7e-e4b5-4c09-87fc-e643a6461b24 CLINVAR:37578 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fcf3a8ff-3c02-4e26-955e-bb4b39d31bc0 CLINVAR:375546 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e4c8a00-5bf9-4ef4-aa2b-3b683df9107d CLINVAR:375546 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eaa8539f-d940-497f-8f8c-8b89f7f92e15 CLINVAR:55149 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59b4d749-be17-4489-922c-3e58f09df23a CLINVAR:55149 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c404c02-b312-4245-8b40-bbad84bec603 CLINVAR:266462 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 818b5d7d-9223-4b2b-9c56-deb54aa274f0 CLINVAR:266462 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee896096-fa08-4581-a43a-7503d13ada29 CLINVAR:55148 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f85426e1-fe64-4a13-9b52-fe5a12baaf0a CLINVAR:55148 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0201f4ac-582b-44aa-9c2f-404b7c77bbfb CLINVAR:55146 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e027eff-0fd6-4105-8b54-08a121e8f1ca CLINVAR:55146 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 402c47c5-f1f9-4d46-8ba2-b6e0a0f5c98a CLINVAR:266461 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 527bfd62-2860-4235-bd2d-26eeec36b904 CLINVAR:266461 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87592034-b568-4cc2-9b84-58fb999fb472 CLINVAR:55145 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5b936b7-cb57-4c09-b818-9021d01ad5f2 CLINVAR:55145 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5330180-6beb-458d-acbc-61312db6b7c2 CLINVAR:266460 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ffbf3f9-68cc-45cd-a77b-60d7bf88d460 CLINVAR:266460 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf43c502-902f-4e39-9ae0-d7cdd4d72995 CLINVAR:266459 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04675a2b-a6e4-45de-8e64-403962474009 CLINVAR:266459 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4de5a61-d9a7-487d-841a-1ccf12708122 CLINVAR:125698 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 196b2f91-6e56-42a0-b110-f3d1d01a146d CLINVAR:125698 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel edd7674c-f7bc-4337-baa9-b945b57e99ef CLINVAR:55142 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe320474-d650-41ab-a08e-78480583e4ae CLINVAR:55142 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 382500a9-6d37-4a37-942f-ad7fb951c91d CLINVAR:266458 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f154f330-4476-4108-967a-f8460f999c59 CLINVAR:266458 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63509a50-3120-4bf7-a083-2abf1b5cd1a9 CLINVAR:266457 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar feec1149-dd22-47e9-a87e-17f59fb64a11 CLINVAR:266457 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca063dfe-d220-4595-87b8-e8584277a058 CLINVAR:55139 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4d18a28-59c7-4365-a2d4-a38ec6c3478e CLINVAR:55139 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a69da86-841f-44d0-bad2-41f618155d7a CLINVAR:266456 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f008d4b-a66f-4fec-b3b6-f9253108f8e6 CLINVAR:266456 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72659c8e-f035-42a2-9a31-0233d475f0b8 CLINVAR:55136 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb4afe5a-c479-4a36-bf5e-08b9efd333ef CLINVAR:55136 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4659fd7-bfc5-474f-ba9e-32d56bbe771e CLINVAR:548305 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc0b04d9-4c91-4b1f-a26c-387cc5e06b7b CLINVAR:548305 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf588f4d-bd52-4d40-8bef-c87b8db5e617 CLINVAR:254454 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c76e385-b01f-4b46-b178-5a785e97eb4e CLINVAR:254454 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c80bd72-65ce-47dc-9489-daf0406582fd CLINVAR:55135 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ffa3118-9ecf-45bc-9af3-30124fa54508 CLINVAR:55135 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63e56864-ae38-47ba-84ed-7d7277b4a6d3 CLINVAR:37574 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62d2e306-9772-43e3-b37c-35f8477c6714 CLINVAR:37574 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c514f5d-d239-4e78-816b-65011b5515df CLINVAR:232793 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddc86e23-b113-48d5-94ab-5731a5b2cb2a CLINVAR:232793 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dc47d515-786b-44f0-8d3c-b03742884732 CLINVAR:55131 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e72f7360-6c3f-459f-927a-03ee43c64d73 CLINVAR:55131 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc625b42-ce38-4ba6-97c0-8df9fa0e0717 CLINVAR:55124 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8248857e-86af-446f-a908-17c0fe30e209 CLINVAR:55124 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a51ca2f0-c98f-4150-8852-8054a79ebd93 CLINVAR:55125 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80d9a317-b7a8-423d-b86b-44f37444a487 CLINVAR:55125 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b975d2bd-0af6-445f-b673-1ddcfdbc5e2b CLINVAR:266454 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6ab89c5-7c99-4c45-a502-5657b9c3cd64 CLINVAR:266454 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93b2a076-030e-4c82-8f3c-3a3d9bd9d170 CLINVAR:55121 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae4f1c2e-f714-435c-8b96-7273b6ddbd38 CLINVAR:55121 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c167a80d-5dbf-4e6c-85e2-69cfffbb1552 CLINVAR:548209 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 225e348e-46cb-44ae-b003-668ab258a770 CLINVAR:548209 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel afcb12ff-5e90-42be-8025-114860a60fbd CLINVAR:548304 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 446c362e-fcf9-4656-b0f8-f60b6d2da224 CLINVAR:548304 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f12e34c5-c62e-4384-8974-a575f9479aa4 CLINVAR:55120 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86638524-ca5b-45bd-beac-5d343ef70049 CLINVAR:55120 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c077f266-72f0-403f-bcc8-2b12e82d7aab CLINVAR:125683 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d50a6af-f0b2-4a80-8e7d-68d0f6b02ce3 CLINVAR:125683 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01fbe835-1fe9-478e-be22-6471a8f89d0e CLINVAR:55122 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3387f434-3e58-4896-9cc9-e799eba8caea CLINVAR:55122 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4972cee-12ba-479a-b2f0-d35ec6893005 CLINVAR:55118 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8346c34b-d8f7-4648-aeb9-d64c5a7a7838 CLINVAR:55118 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8d67b1d-ae90-4766-bcd2-e85c4efb0833 CLINVAR:55117 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddfd5bc1-3669-4bec-80a0-816657d68f1a CLINVAR:55117 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a518ab61-69ef-4f64-99d3-43dd51de4853 CLINVAR:55116 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68be36e8-fc0c-4c5a-8b28-ab27eacefc9a CLINVAR:55116 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 94435402-81a4-4839-b8cf-feeb8385c733 CLINVAR:125682 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97a77761-0420-421d-a13b-8424503260c8 CLINVAR:125682 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33a62276-ef5e-4e0a-9247-5f3768724ee5 CLINVAR:266453 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef12b42b-b8f6-4d7d-9017-d2b7225978c2 CLINVAR:266453 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2bc28f81-8e78-4f08-a279-7472157f8c5a CLINVAR:55115 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a77bbdaa-7087-4658-83be-41c2a463b8e5 CLINVAR:55115 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 377a4393-d416-44ce-8b43-c6990ed1b98d CLINVAR:55113 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fdc218c-a44a-43f7-a0a4-fba6c7319115 CLINVAR:55113 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a930b6b-fb9d-4c3f-96c7-018e1442f06c CLINVAR:233727 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6de493be-34fc-4efe-b149-7842b30a309e CLINVAR:233727 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b50cb83-0026-46a5-945d-329149f49f31 CLINVAR:266452 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 394f7b1f-cb13-4de3-afd5-73e9d19f2b40 CLINVAR:266452 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ffa45d16-2936-4ba6-9534-d6ad1f411fdc CLINVAR:37572 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1edcb2c-698c-4ba4-bc14-4a9223df4ebf CLINVAR:37572 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b74b3a80-6ea2-413a-9e75-abedcf18cd7b CLINVAR:371879 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d05c287c-1d05-4d30-bbdc-a5a6c1fd7006 CLINVAR:371879 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 698bae07-fdaa-4c3d-b72d-79135c585619 CLINVAR:254453 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f3fffb1-4567-49b9-8855-19477696d2b1 CLINVAR:254453 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f687941c-25ff-4cf9-9731-333419e907ee CLINVAR:266451 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a52cfac7-0dac-4aaa-9e68-28a808995da1 CLINVAR:266451 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24a7bbbc-e397-4717-b8f2-cbdaa52431cc CLINVAR:419246 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 290c0891-3dfc-435f-bb14-3a40a3f2fa08 CLINVAR:419246 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8fc6ef2-9c3f-4f43-893f-7d03b362a1b9 CLINVAR:55112 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09996f77-2562-4b1d-bdaf-fc1927fd0c9c CLINVAR:55112 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e52fd29-a415-42ec-b668-fd36e956edf6 CLINVAR:266450 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8665d6a-09a0-40f5-ba4f-2e8ddb0d619c CLINVAR:266450 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d97ef632-98a3-4c15-a856-5dab97d7c5fe CLINVAR:125681 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a043e82-f017-4c08-9588-91e766597acb CLINVAR:125681 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ac3bf1c-2a42-4012-9666-272f5aa960f2 CLINVAR:266448 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec6becf0-a516-457a-ad14-fc255d48c141 CLINVAR:266448 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ccbd2a25-f7ff-46db-883d-c802308bb235 CLINVAR:266449 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a01a960-f90a-49df-b09c-09cd37412f02 CLINVAR:266449 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d6c2f8d-384a-4fba-bfbc-46967eaf4af0 CLINVAR:55107 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95b51685-3b25-4611-b6f4-cbfe632fc256 CLINVAR:55107 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec2ece23-cd88-4703-9266-e437f753bc78 CLINVAR:55108 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1fcf096-04dd-4f0d-a341-a2913a2cd833 CLINVAR:55108 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee45e03e-71d6-463d-9bfd-ca61286cdf3f CLINVAR:37570 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 162e72d7-6dca-4b29-933b-fb80d77306db CLINVAR:37570 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79c0eac6-531b-4250-aa62-cbba2562a314 CLINVAR:548190 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa53a90c-d4e0-4888-abc2-f57cf26355b0 CLINVAR:548190 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1370d980-ccbd-42c8-a1f5-0c58e60efcf8 CLINVAR:37568 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11523131-dff2-4681-b5b9-138503851de9 CLINVAR:37568 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb2e66c4-405c-4eea-8ddb-cf0db3b97197 CLINVAR:37569 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99eca0bc-af97-4a6b-9c91-1676495eba2e CLINVAR:37569 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a207aa3c-8c44-4fc4-92db-59222d93d7a3 CLINVAR:266446 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 072405fc-f2a2-433d-ba77-5fdf52533f7b CLINVAR:266446 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2cdbfe90-42f2-49d8-a541-3cbd8964db5a CLINVAR:55106 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 774450c0-fc56-461a-8582-3213e0d92d32 CLINVAR:55106 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 536ea434-4c3b-4076-bf76-e0c78b3c1b7a CLINVAR:125680 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96e26ba1-27e6-4e64-b771-14be214d3587 CLINVAR:125680 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8cc31a88-b863-4602-946d-9ef95e1b6302 CLINVAR:548282 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 717c7dc7-411d-441f-b639-390ee4d8e474 CLINVAR:548282 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfc5c9f9-67ff-485c-8bc2-c5f04e98c7d9 CLINVAR:125679 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af43a552-c980-40b8-a517-ec764973b490 CLINVAR:125679 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3410dc4c-4e23-4616-913d-42c832b05ec1 CLINVAR:125678 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 224a6bb7-e4ec-443e-b3b7-3638c85b1a02 CLINVAR:125678 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72c85a4a-6f4f-4067-bea7-7970fe0a109e CLINVAR:55104 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44030913-0722-4f80-9d64-4ad98096a174 CLINVAR:55104 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39ac4e0e-4b3e-46ee-b4fa-4a75472898ec CLINVAR:548184 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 707f3d97-06f7-4b8b-897c-36db6faabdb2 CLINVAR:548184 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10d3a906-bd39-4ccc-8819-7c2d90aa81fa CLINVAR:266444 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46bafe7a-7cde-4c2b-a4b0-36f635cff32b CLINVAR:266444 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a8daffd-ed9c-406a-8c9a-61eff67b55e9 CLINVAR:186497 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a3e8734-27b4-4c87-92e7-b42d522482b2 CLINVAR:186497 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b67f4bd5-4730-4b91-b1a6-98e9d526f868 CLINVAR:37567 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1c2ed8c-d681-4d47-8919-60531db896f5 CLINVAR:37567 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53e68fb9-8da3-4862-97b7-0d721f2cc52e CLINVAR:55103 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79971911-b409-4b57-bc7f-ac1032c1b544 CLINVAR:55103 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a3c2681-073e-44b8-a697-31ae9b8aa5bb CLINVAR:55102 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 720aad75-43c9-4ef2-b9b2-0ce9e5a39851 CLINVAR:55102 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a047c76-fb6a-420e-93e0-c167dc5ef872 CLINVAR:55102 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d39e2b42-14f4-4bd7-b7cb-fd1ce7efeba8 CLINVAR:91623 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 629d2cdd-4894-46f9-8ca6-e5c85c8b0ec1 CLINVAR:91623 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2b747a9-cc18-4aea-836f-159e38e1643f CLINVAR:91623 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdbd7931-28c6-4b70-8ad8-fbd9c14d3421 CLINVAR:55101 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52dadad6-1fc6-4b7e-b81b-aa920dbc463f CLINVAR:55101 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f0a9b80-8578-4df6-9408-e0f46b59d7ca CLINVAR:55101 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41f326cf-261d-4141-a94c-94f35c8e5c79 CLINVAR:266440 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3fdaa3e-6c3e-4bd6-b293-145070b43020 CLINVAR:266440 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b404a72-ea5f-4b13-91fd-2daecac03692 CLINVAR:266440 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1362066c-ebd4-4586-807d-df1d0b47c644 CLINVAR:254452 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 553cc586-4ee2-4eea-9fa9-7a5d1ce81886 CLINVAR:254452 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b23187dd-b5a0-4752-b868-7bd5f91a2d8a CLINVAR:254452 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel afaa0624-abd4-45a6-ae01-63021f1ece4c CLINVAR:441374 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 205f3d86-1496-4759-8186-ca77a347bfa6 CLINVAR:441374 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57f97f9e-1579-41fd-8abb-d45174a02987 CLINVAR:441374 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59393247-55b1-4579-904a-424754b0aecf CLINVAR:55100 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47d82e0e-cd69-43bf-80eb-6f2f50853d85 CLINVAR:55100 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2715fc3-10dc-4ce9-a38c-fbf6b9a634fe CLINVAR:55100 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81d51e4b-2d08-418f-98c8-0961b1fc82dc CLINVAR:266441 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11cf3a37-c384-407e-bbc8-c49a017449f4 CLINVAR:266441 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 463c7cb1-5bc2-4014-8c66-69c497b18fbd CLINVAR:266441 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e5804ca-d5f4-48d1-a25f-b6179a2c7afe CLINVAR:55098 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90e16203-cda5-41bb-bf22-f71fa40f8f2d CLINVAR:55098 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e33d5ba-82a2-4013-9960-d8f3d5ce2e34 CLINVAR:55098 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31efbc4b-d96a-4c68-9f70-087dcc60e85c CLINVAR:96924 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 153eef1c-811f-4bd0-a7d6-d544961b5c73 CLINVAR:96924 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41352616-a4a1-4887-9ce9-a731b5ee5e54 CLINVAR:96924 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96494279-5746-4613-b6ae-0eab06ead671 CLINVAR:266439 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbc72cb4-b97e-428b-b61f-b6d175df338d CLINVAR:266439 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 940d2679-7103-499f-9411-2c7d3a308eca CLINVAR:266439 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7df0d7f-9c11-402c-a885-ba1c80b1f589 CLINVAR:548293 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b696b8fe-610e-4fd7-b37a-a7260ed099a7 CLINVAR:548293 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37745f48-075a-4a7b-9c23-7db5287046c2 CLINVAR:548293 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a269b1a6-baad-4789-b7e4-70de7b182100 CLINVAR:55094 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 997bfa8e-f61c-4405-9199-9aeff699f7b6 CLINVAR:55094 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0a1170c-9e58-4b37-a423-f5082b527ca7 CLINVAR:55094 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c27d7da-d8a3-49a4-b0b1-b99e1ccdf226 CLINVAR:266437 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19e38c65-4d50-475e-96ff-889c0e9e6ee5 CLINVAR:266437 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74a2d2d5-9e9d-4491-99a8-675d09066c1c CLINVAR:266437 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0aa31d9c-b523-4f37-acaa-f2e2e418ecac CLINVAR:17674 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65c88126-b369-4a4d-a707-fc6fd2140516 CLINVAR:17674 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c963589-9c36-4027-868c-72048a02c81c CLINVAR:17674 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c9478a3-de82-4f08-991b-a28cd5aa6047 CLINVAR:55092 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 442399bb-54f0-48a8-b2cf-01dadf7a4f44 CLINVAR:55092 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08a22837-5a8b-4427-9ed6-5b2a6478ddac CLINVAR:55092 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90793ab5-cf7b-4cc7-8a86-bea695b226e2 CLINVAR:266436 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 271127f3-cdc9-4ffc-8d4d-7100a3dcd604 CLINVAR:266436 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 341b3e99-1b8b-406b-831a-29bc29313e1a CLINVAR:266436 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a45a5085-a70c-4ea1-859e-6a226972960d CLINVAR:266434 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa313f09-2149-47f7-beb4-9987d3ca41e8 CLINVAR:266434 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 187290d0-eaa8-4823-af4e-9929b8b01756 CLINVAR:266434 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3bc73a11-c5f1-41b3-a8a0-fe8a271a1822 CLINVAR:266435 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8291d657-2962-4625-b03d-7262b164bd6f CLINVAR:266435 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb1fd4d6-87c5-48d5-8394-49762711b213 CLINVAR:266435 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79c05fad-fffb-4147-977c-1bcd80a142a9 CLINVAR:409338 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7669da5d-0ad3-435a-b709-1927520f8b3b CLINVAR:409338 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e995bab4-109a-49a6-9128-60d51a721058 CLINVAR:409338 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fcaed004-eb8b-4899-b679-5c33f156aa47 CLINVAR:91621 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3aff0eca-adca-4554-8921-86fef693151b CLINVAR:91621 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0db1e6d3-5264-4ef6-b93a-e279998b2ee8 CLINVAR:91621 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a59963b9-1faa-43d7-93dd-2e8a79af45ba CLINVAR:55091 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 200cdbb0-aae4-4440-b591-986337b312f8 CLINVAR:55091 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2e026ce-63ef-4904-974d-3c42b916e2e0 CLINVAR:55091 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be9cf451-e5ff-49fd-9be0-ae539fb33057 CLINVAR:55090 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b163d82-a06b-437f-903f-2198f39ad444 CLINVAR:55090 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7d0722e-af8d-4ac5-b670-176d0b3d9db3 CLINVAR:55090 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6cec664-6257-4365-80d9-9b6ca6af0b1e CLINVAR:91620 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5daaea2c-6463-4788-9849-8da731519946 CLINVAR:91620 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94658569-4c07-47f4-b6aa-fa26af085d59 CLINVAR:91620 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d738a36d-ba32-4899-b406-438296e54aa7 CLINVAR:55088 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b191ee3a-ae94-47fa-91a0-fe0765e854f4 CLINVAR:55088 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c9b3988-c4f1-4256-9110-53177addb591 CLINVAR:55088 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da629b1f-e29b-4207-b660-69489ac2672d CLINVAR:548195 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6a0a049-f062-4460-858e-a99ddda7137a CLINVAR:548195 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9863be2-219f-4c85-b83c-52ee38e9df88 CLINVAR:548195 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb9d550b-6fc2-4117-8337-bf8a125033d9 CLINVAR:55087 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c98f44cb-4593-4e7f-9934-e9cba8271b3d CLINVAR:55087 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f65081e3-0ef9-4006-b03f-2e6337c2b583 CLINVAR:55087 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa7cbed8-cc27-4779-bd14-414443a289a0 CLINVAR:125661 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 648d36de-eb88-4f22-9816-2a25c6d39354 CLINVAR:125661 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40657a92-af87-4f8a-b867-1d5aa97a0abb CLINVAR:125661 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b96b5847-4201-4954-a972-3c0131766243 CLINVAR:55086 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42e7bb25-6ba0-49c7-a382-8b5da7d73879 CLINVAR:55086 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98775406-3a72-4f24-ad52-738f31e8b8b3 CLINVAR:55086 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a686386-2ea5-4817-be79-33803eba57e7 CLINVAR:55083 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d380e463-a36a-4576-9329-758e087cbe2d CLINVAR:55083 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae82db1f-6cf8-4a77-be07-5ec5c6734334 CLINVAR:55083 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6c5ccf1-5e14-49e7-827a-64e7ce6a01f7 CLINVAR:55082 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea1cfb7d-c215-46f9-9081-7eae422dc8b5 CLINVAR:55082 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 620edf8a-6dff-44da-9bec-855c0dfead24 CLINVAR:55082 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6887f54a-90d6-41a1-b518-d509d034c175 CLINVAR:266433 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 909e8a5d-1488-450a-b8df-e4f505c7d47c CLINVAR:266433 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f097f3fa-aa9c-4d29-8564-70c217e149d0 CLINVAR:266433 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6714949b-1a32-49b1-82ce-280717c8e149 CLINVAR:96923 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c734896-5854-4eca-a2c4-5dff4a8340ac CLINVAR:96923 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb5a6390-1d26-4cd0-8766-09843315db49 CLINVAR:96923 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e9ca4f5-7c23-485e-af79-4602d8299981 CLINVAR:266432 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54a85dcf-3f2e-43dd-8a72-43e8158dc4ec CLINVAR:266432 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35410461-02b7-4e6a-b440-71eb490bf343 CLINVAR:266432 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12440009-28df-4129-ae33-2a55925a2325 CLINVAR:254451 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59c13579-8107-46c3-b3a1-80a5bc3744e0 CLINVAR:254451 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b72ca81e-c48d-4272-9b32-90b191b2d6ca CLINVAR:254451 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6824016-6ef8-43c3-a9c2-04e39a59c87e CLINVAR:266431 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2836680-161a-42ce-a238-bbfa29fac297 CLINVAR:266431 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6aef3f44-abb0-444d-9db2-b4051fc3f361 CLINVAR:266431 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d4b3ffc-f3e0-4eb1-9925-bc1a36a0e0b8 CLINVAR:37560 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1c60b2e-8a9c-4da4-9177-49d946c76b34 CLINVAR:37560 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24bf032a-5f3d-4940-bb89-5a2de60f0396 CLINVAR:37560 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ecd246b4-7e9a-4bd7-a0d0-f49464fa6cd3 CLINVAR:266430 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96a4d709-0162-4a6e-8983-5218c3c25af3 CLINVAR:266430 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2609ff2-de7c-46a6-a494-e397cf8adbe7 CLINVAR:266430 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d4245a1-d144-4cfd-bf7c-651f683d4bbb CLINVAR:548162 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e1550d3-d2e0-4e2d-8448-f17d6f9669dd CLINVAR:548162 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4aef8f5-633d-41b1-9aa2-6fa928190984 CLINVAR:548162 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0955e9c1-f1f9-408f-ba4d-f853384d5105 CLINVAR:266429 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6224d681-b1a0-4f25-8e22-10cdcbbd8292 CLINVAR:266429 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a6bae24-1b06-4dfa-84d3-6b65e6b309fc CLINVAR:266429 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d231a98-3de7-4a5c-9dfa-e916bbc455aa CLINVAR:254450 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3523da8a-309c-4188-915b-6c95169289c8 CLINVAR:254450 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1188145c-577d-4082-9e54-0acb9a90620c CLINVAR:254450 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2041b506-acf8-4ab4-9984-70e0f578acac CLINVAR:37559 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4c9a789-52ff-4222-b23b-6688da1af0ec CLINVAR:37559 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b0c1f7d-052b-4a35-be44-fb8ed804a1c8 CLINVAR:37559 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4ed39c3-c53a-4d66-ac04-ec7217e4f5e5 CLINVAR:254449 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37765624-d570-4321-ab51-8b0d95347326 CLINVAR:254449 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41df8797-1f06-4eb0-9348-0ca8f345ac86 CLINVAR:254449 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1e61ff8-b3f9-487a-9fed-3bf1df6b73b5 CLINVAR:254448 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d88f069-f0a2-4887-b019-04068bdc5d15 CLINVAR:254448 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d6243e4-6383-4285-ac11-b6498a633aaf CLINVAR:254448 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5827d9cb-fb85-4256-bb3b-eabb149e348b CLINVAR:55074 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78057a46-700e-4268-94a7-dec01ebeb40e CLINVAR:55074 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3ab02e0-ec73-4bcc-a9c3-65fabb9a6df4 CLINVAR:55074 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42b10e3b-7031-4da1-a107-2ee729c32615 CLINVAR:55073 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7e56976-087c-4866-87e1-89041d40d5c6 CLINVAR:55073 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fab4c1b9-8d26-4be7-bf62-b5b37a61738e CLINVAR:55073 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c01c6a6-6d60-4f23-bb88-ee301e42d138 CLINVAR:266427 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c39a3a5-13d5-45b8-8f07-927858c972ed CLINVAR:266427 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07ee8b76-e3e6-4c47-aac6-3b426e585d15 CLINVAR:266427 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 186f4d2c-eae5-4830-9eb2-ee0e465fd53a CLINVAR:55070 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3799272-57e5-416e-bc8f-ef908bc1658b CLINVAR:55070 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a217dae7-bac9-43d4-b7df-972f13839f88 CLINVAR:55070 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee2c8060-221e-4252-b03a-3b0ee70eb424 CLINVAR:266426 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10cbadca-bbaa-4cdc-95c8-7cb647cf265b CLINVAR:266426 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57fa9c08-bd64-4946-bf62-eaa41ec7e0a8 CLINVAR:266426 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf0d6dc7-de80-4a00-aa45-9f0c92b2e8b8 CLINVAR:37558 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6fed9e2-07a7-40b2-b8e9-129392bdcb5b CLINVAR:37558 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d23d2c18-5764-48ba-bcee-9ab99f8819ef CLINVAR:37558 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 948cec08-9f51-40fd-b0d0-db5750e43369 CLINVAR:266425 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2a7498b-4f7e-47cb-a753-51bc34e50051 CLINVAR:266425 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42689685-c00d-456a-9e4f-7ff4db2f01a1 CLINVAR:266425 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab8f316e-4821-4401-bf7e-177d9fecb476 CLINVAR:55069 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 097165d1-7a64-451d-94a4-90b5a58d855b CLINVAR:55069 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62c22ac6-e67e-4cb9-b8b8-6e217c13505a CLINVAR:55069 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b5f179f-f495-48af-925e-90632000fac5 CLINVAR:55068 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75b45f31-6960-4bce-9a5a-d8bc7a98256e CLINVAR:55068 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f4325a3-a91f-4155-a6cc-d01a58f627ec CLINVAR:55068 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9464c244-e0fe-4a41-a5d8-2c14efed77af CLINVAR:232360 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 771958df-bc3a-4e29-bb23-d3b915f5dbdb CLINVAR:232360 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9eff3e60-8a62-4cf9-9061-8534a60e804d CLINVAR:232360 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67a1e1a7-12c7-44ba-b5b9-cb9aec6ad206 CLINVAR:55066 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d57ee8f5-ea9c-41b4-b094-d71a833b5271 CLINVAR:55066 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c253e4cc-8939-4402-9b6e-f1b41728d982 CLINVAR:55066 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 155a1b99-cc56-449f-904c-428319513258 CLINVAR:266424 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3543acc2-8ce0-4948-a137-a7d751801925 CLINVAR:266424 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a5506dd-e40c-4d7a-a274-1276c7c38f00 CLINVAR:266424 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da66a2f7-9891-48a8-9cee-d407a8d85d04 CLINVAR:55065 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a1fe9f7-16ec-4814-9dba-65d522455a69 CLINVAR:55065 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3a33ab9-e748-489b-8f30-97ef43746c66 CLINVAR:55065 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa85e408-b5b3-481a-be9a-1eb5ae76a7f9 CLINVAR:266423 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e194b339-fdbf-4e8b-899d-6bc30009ec55 CLINVAR:266423 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff254c5f-6e67-4b56-83c3-73f1d412c923 CLINVAR:266423 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e681eaa2-cf4f-4875-b03e-4ba01ee5e0ac CLINVAR:142938 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3aa561ae-8a15-498c-9703-97864d1b9eba CLINVAR:142938 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad52895e-84db-49fa-b668-525e52d4c8cb CLINVAR:142938 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b9e33c2-c749-4a40-8fb1-a70cec864ef0 CLINVAR:55063 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3deaccf-461a-4767-bfe3-df0362252082 CLINVAR:55063 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c71bb585-0e11-4b3c-b7e9-c171e8ac71c9 CLINVAR:55063 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29ad3bda-f0d9-492a-bc78-8489b3816b42 CLINVAR:55062 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cd0bb21-6976-499d-9a1a-29e9f239c034 CLINVAR:55062 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ebf8ccc-e00c-4819-b522-914426a76bfe CLINVAR:55062 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f51dfc2f-4fa3-4402-9130-422678ae521a CLINVAR:55061 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0900a42a-5b3e-44a2-abe3-b5d8e221e898 CLINVAR:55061 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56171690-a5d2-4489-a103-ea01efeb749e CLINVAR:55061 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8933fbac-a2a5-4cb0-8430-eb8a0408c460 CLINVAR:55059 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c43437b9-a832-49bf-8db8-282c426cd7b4 CLINVAR:55059 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96a31cfe-a06c-4a36-9cfe-6a66a6db596e CLINVAR:55059 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be40900e-1782-40c9-9e1d-49ea9b3308f4 CLINVAR:266422 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e16ed6e3-c483-468b-bce2-b5447a8e202b CLINVAR:266422 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a85a1cc-794f-4974-abe1-b6cb9ca31f7c CLINVAR:266422 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8da4cc99-3ee8-4561-8029-cb319b753117 CLINVAR:266421 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f926705b-b392-4246-8610-df064087f558 CLINVAR:266421 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6b1216c-f37d-40de-ab59-516a99fb0379 CLINVAR:266421 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e1e8627-a4bc-4514-b7dd-c2df3e121389 CLINVAR:431257 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cb0b35e-0a14-4836-a56d-9f10363e94e1 CLINVAR:431257 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 316539d6-7b1f-4f42-9a27-8bb44c028aad CLINVAR:431257 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 514e4ee0-0e8b-447e-9b5c-efd2230e9acd CLINVAR:266420 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b370f6b-6139-4575-af52-a4100bffbee9 CLINVAR:266420 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar faeef780-1ff3-437a-9a85-36bd914d900b CLINVAR:266420 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96dbe003-26b4-4ff1-b2b9-0ccb150fd6a2 CLINVAR:431256 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc33ae23-bd99-48fa-a3a8-4485f26bf876 CLINVAR:431256 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 497e57ee-8137-49be-aafe-aa45ce243219 CLINVAR:431256 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bffea1c8-a113-4b86-a6e7-5136b6a33e28 CLINVAR:266419 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e889756b-6e80-4b77-a264-a8d24896c1c5 CLINVAR:266419 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c31e9c8-b37f-438a-9549-4fafd3819614 CLINVAR:266419 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d87d117a-ab4e-4f8f-8522-9379bc0710d3 CLINVAR:37556 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b843311-9917-4abc-945b-589eb39bb658 CLINVAR:37556 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39218ab7-4ff5-490e-b09b-8114dd74bcfe CLINVAR:37556 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 422cf225-9071-4a53-aa67-f0961db746a1 CLINVAR:232602 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cbea5794-e0cf-418c-a44a-71e88745baae CLINVAR:232602 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1dd0e548-59be-4d0b-bcae-a5484e22228c CLINVAR:232602 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2daf0ca3-3471-4de3-b5cd-a75be4d9a1c5 CLINVAR:55054 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8316e8d-2c9e-4e89-949d-94cc20753b2e CLINVAR:55054 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b890fe84-bab5-4a56-ae46-7cd61d41110f CLINVAR:55054 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71b4b89a-d3c7-47ec-be06-67db4915c1c4 CLINVAR:55055 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b07e856-5320-45af-bd1d-a5892dbf1d67 CLINVAR:55055 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79190430-9104-4e53-b966-9355a51eb081 CLINVAR:55055 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38274458-34f4-4f9f-9d78-da6520a84625 CLINVAR:55052 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e96c85a-2741-4ebb-9944-e1ecb2c5e466 CLINVAR:55052 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98149439-87b0-4169-b076-05d3f8cfac94 CLINVAR:55052 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5b415ba-85b1-4444-ac05-37c6642dd1c0 CLINVAR:266418 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc9a8d37-33db-4159-82bc-fbf759a1e2fb CLINVAR:266418 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c35edb2-0c0d-4b54-8ab8-ffa3b107abff CLINVAR:266418 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 280d92f2-27dd-4cb1-87c2-a20065eee308 CLINVAR:55051 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b346879-e3ee-44cf-a8a3-014a77e35cba CLINVAR:55051 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed79f3e8-ae5a-46b3-a992-1dc878f1ef40 CLINVAR:55051 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd388be8-5f8b-4c06-8f11-5f79062e7e72 CLINVAR:266417 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ceb8e0f-473c-429b-af13-ee4f4b306f1c CLINVAR:266417 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 647e433f-bb68-4b62-a88a-ad6eea885d38 CLINVAR:266417 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 657ba9f0-7c66-4d20-8e05-4d78a03d981b CLINVAR:55049 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0920499e-6860-401b-9489-54f9e287e3ae CLINVAR:55049 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 026ef3e8-5332-47be-9ce6-a01805bc894a CLINVAR:55049 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43e60e04-91cc-4b5d-9552-3aaba0171be2 CLINVAR:55048 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7532de6c-5c6a-4d53-aec5-9ec3cd9f1999 CLINVAR:55048 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66ca81cc-6673-4214-800a-e0e15e8bdbb1 CLINVAR:55048 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5112a858-9956-49e0-aaed-f41e286c4b36 CLINVAR:55047 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7983c742-65ba-4eb5-8f37-7c046ad2448d CLINVAR:55047 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03eb4e30-f282-4839-b1b4-7d9ae264edeb CLINVAR:55047 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f477abe3-1835-46e6-a7b0-55d9f7a0dc18 CLINVAR:254447 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f32bdc7d-0e19-4cd2-8883-fd2f4b01f006 CLINVAR:254447 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e35d776-928f-4b16-8446-2905db6bb843 CLINVAR:254447 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a03ab8f5-ebcb-492c-b038-3af98dddb9ac CLINVAR:266416 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b49be3f9-5b68-4b34-b177-81d0e0479881 CLINVAR:266416 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 225e342a-6f8d-4f48-9402-4c24898286a8 CLINVAR:266416 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba823e8e-3af2-4669-8fc0-dc12ae97ec15 CLINVAR:125658 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db4de829-3142-46e3-9d44-2951ecbbe3f7 CLINVAR:125658 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6422ccac-e4c4-426e-8690-7b62ff98a32d CLINVAR:125658 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea58f164-59aa-47c3-846e-2ae6db001d0e CLINVAR:266415 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df56c4b9-0a0c-42ed-8a1b-6c91993bd513 CLINVAR:266415 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47f22312-ee0b-46b1-bf9f-1bf7b8dff43a CLINVAR:266415 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 69ffe684-866a-4be2-8aa4-a42b78a48c04 CLINVAR:55045 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd5f537e-6058-4d2d-8805-d6e21f4d1f19 CLINVAR:55045 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 435adafe-4b82-49af-b24f-efb33c7098a9 CLINVAR:55045 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 831d584b-8723-4676-b077-38de47654db7 CLINVAR:55043 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 686911e8-50b8-43cb-ad61-28519c822a43 CLINVAR:55043 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0dc017e0-9073-4d7f-bb27-e4c2b6ae40b4 CLINVAR:55043 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc117513-2d0c-4dd6-8374-4a99c7aaee97 CLINVAR:55040 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b0ecfd1-f550-49ca-a679-189f14907151 CLINVAR:55040 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc1d3eab-522d-42fb-8eff-c7fe773550ff CLINVAR:55040 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2728efdc-bf6b-45aa-95fb-5a149cf835f7 CLINVAR:240798 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8383b3b3-01c4-432b-9233-975d2c88026a CLINVAR:240798 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 688a6702-a9b3-4080-acf4-15cc509b5685 CLINVAR:240798 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f5225e8-6d72-42e5-b66e-edcf4fc5810f CLINVAR:55039 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 603b4e8a-4c7f-4663-b8db-99d106b35924 CLINVAR:55039 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 133e86e7-0e42-470a-b138-9a56349f1519 CLINVAR:55039 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71428937-31a9-4269-ae12-d3e020da16ce CLINVAR:254446 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3505ba95-e51d-4a3f-9cd3-f9ae76dbf76e CLINVAR:254446 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be21bc3b-6ad2-4bce-8286-557acdc41869 CLINVAR:254446 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a086514-982a-4318-9ce6-7e2aa41250c3 CLINVAR:266414 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8d2f3f5-b852-418f-b75f-2462323452b9 CLINVAR:266414 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e602b47-64eb-4538-b363-dd4a266a14be CLINVAR:266414 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2cf3af61-33f0-4102-8a2b-6e138cf6a8f8 CLINVAR:55037 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37f44054-ac57-4635-80de-5757930bf889 CLINVAR:55037 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c30858eb-628e-411b-8e49-f9d418571bfc CLINVAR:55037 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c2be18e-6fc3-4340-88e1-b1e153910572 CLINVAR:55034 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0eb4005b-b70a-4e66-a691-254941b54289 CLINVAR:55034 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74e746fa-cb3b-4740-9591-d3f1d565d35c CLINVAR:55034 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f49c39e4-1f45-4035-9f54-15d0491fe875 CLINVAR:136086 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 590ca271-5c3f-41d7-99fe-d73704f76e43 CLINVAR:136086 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea917319-3b43-4f98-9cc1-f4ba9218c2ea CLINVAR:136086 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 208d2ea6-1aba-4a36-b8e4-8e1b9fe61040 CLINVAR:548287 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb5794fd-55f8-40b9-af65-efe56cbd941f CLINVAR:548287 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cacd9c7f-7596-4636-bb63-52b6518e1bf1 CLINVAR:548287 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 019dddfb-bf7f-49b7-a8a9-1ba1e38ca7dc CLINVAR:55033 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec90e727-3d26-4d4a-a0b8-ae4eb213225e CLINVAR:55033 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9522c265-a060-4904-85c5-bc27a6b222dd CLINVAR:55033 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c84b70ae-6982-4b72-be57-22ec0317ec7e CLINVAR:125657 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0470bcff-ddf4-4c09-94a9-bf1160c9ba87 CLINVAR:125657 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10803bdf-e551-4a4e-816d-b056495afcd6 CLINVAR:125657 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7e12097-c672-4e0b-8187-247c321bfdad CLINVAR:55032 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 021e0012-5b08-43c3-83bb-c82f65983438 CLINVAR:55032 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f26e2e6b-8e83-4b3d-bdca-2b3fd711d400 CLINVAR:55032 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 750029af-10f8-4ecd-851a-959b3f680cb0 CLINVAR:37554 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 794a74cd-1aca-42b3-b754-85a9373d08bb CLINVAR:37554 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c367983-b0d2-4941-a77f-6da07c36271e CLINVAR:37554 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ecc13686-27b6-4286-9071-29d45788cee8 CLINVAR:55031 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f43958d-22a4-40af-9ecc-ac33fbb2bad7 CLINVAR:55031 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8cf963fc-304c-449b-a98e-7925743080fd CLINVAR:55031 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff64bade-e603-4a01-b8bd-e585f21ff110 CLINVAR:266413 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56cb7b87-6c60-47d5-9a35-240c67b88230 CLINVAR:266413 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02b2aaea-99ed-4df5-82e9-3bca1336f86b CLINVAR:266413 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a4e885a-06b1-4960-a7be-7a8f1f0524ab CLINVAR:37553 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df916361-e483-4f78-9bc6-816d8ba7c17e CLINVAR:37553 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c29904f3-43d6-49bd-b536-89fc47197645 CLINVAR:37553 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a165249-83f8-433b-8d32-d6a329296df0 CLINVAR:55030 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07d54f7b-06b6-466d-bea1-8abde880f82a CLINVAR:55030 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c78201f-b44e-420e-ad08-d79f972ebf31 CLINVAR:55030 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb1a6c27-7390-4680-a0b2-09650aa2d1c9 CLINVAR:254445 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c64e2d3-0e69-4a29-931e-1bd724ccfbe9 CLINVAR:254445 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ffe1b57-f51d-40b3-8c4c-6acc3f9675f3 CLINVAR:254445 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7387bbcd-da78-40ba-ab21-58bc3f28ea21 CLINVAR:266412 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3b2c7cc-a5c5-4c8d-b58a-264985a2f68a CLINVAR:266412 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1af941f-898b-4bc0-ba6c-2e745377723d CLINVAR:266412 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d72c4e6-bb6d-4d4c-ab9b-eb5196cbe6e2 CLINVAR:266410 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f79686c-d6b2-49ce-be2b-5d9162298e0e CLINVAR:266410 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 698bae10-6122-4231-9aa8-cd2ec20e429c CLINVAR:266410 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47a4e75a-f4d4-4ac6-b6f3-2edd3026bdc0 CLINVAR:55026 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cef703da-9cb9-45f2-80ed-d513eede5c07 CLINVAR:55026 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82886d6e-e1f3-4581-96e2-0ad34db497a5 CLINVAR:55026 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0e6e4ba-889f-4b7d-bffc-35a02ca6dd7f CLINVAR:266409 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69fb53cd-6143-412a-be22-60e3ba301031 CLINVAR:266409 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc2e2ffd-f87b-46a7-93ef-4b4cc6199578 CLINVAR:266409 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0905772d-1e46-46a0-9bcb-89b0a6278903 CLINVAR:55023 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bae3841e-a8d3-4cc3-bc53-393ec98d0749 CLINVAR:55023 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5c437fe-cea6-4efd-a1bc-5441bce3f491 CLINVAR:55023 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be29f106-1995-4c98-be9d-40cfc2687832 CLINVAR:55021 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f62af4f-0450-4515-a3ba-c245fe6143e1 CLINVAR:55021 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fe0e269-f778-46ae-af19-4fe904b81f75 CLINVAR:55021 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1caef06a-4275-483a-8bb4-6e517dffae08 CLINVAR:55022 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar caebd714-caea-4ff0-90fe-a03ef025e56e CLINVAR:55022 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17cd5c74-76a8-49a7-bc77-ca2fcec15d85 CLINVAR:55022 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc71ea83-135f-4247-8c0c-8b2b26b91506 CLINVAR:266408 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 408c3ff6-7607-4c6e-8425-e506c7a4a0f5 CLINVAR:266408 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5af807e0-187f-4ba8-a55c-96d2a2b08ce5 CLINVAR:266408 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f55d4a39-d8c5-4e5c-ae19-1bc32a774902 CLINVAR:417826 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63679569-0377-4033-baea-9bd43b844dbd CLINVAR:417826 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb00e2f7-7174-4f83-8566-8d2cd09edcc6 CLINVAR:417826 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c69d8e4-fafb-4d50-998d-b70848bfacea CLINVAR:431254 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12468e09-7d29-4a22-bfa5-2cfb70611754 CLINVAR:431254 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ca86c85-3b02-491b-a562-38ef7a978026 CLINVAR:431254 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 223f71c8-0b9b-4c54-93e2-7ec960c7dfad CLINVAR:125655 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13f1523a-bde7-41e8-a588-03105a49f5e8 CLINVAR:125655 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b46410f-0af2-46c7-8adf-f65d89a25280 CLINVAR:125655 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f23ad801-f870-49b1-b766-df8627cece90 CLINVAR:37550 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8073e65f-a15a-4fe2-b319-603b3b04b3da CLINVAR:37550 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00af4321-7cee-427c-a1c7-6acf8e230036 CLINVAR:37550 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dba7a855-8672-47d2-bcda-a7653d6f8b45 CLINVAR:548295 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d93d28d-4964-4b3b-8099-c039a6799fb4 CLINVAR:548295 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 203e3f38-df40-48b2-b6b7-b48347d05a2f CLINVAR:548295 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20d065bb-ccdd-453f-be88-63da36006b75 CLINVAR:224418 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b7c23f9-e513-45db-a036-2a3d8bf35b94 CLINVAR:224418 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5912e1a-c893-4e06-b787-a9b3403ace0c CLINVAR:224418 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9ea47bb-3bc5-46cc-9d82-a04de5679d4f CLINVAR:266407 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee434e42-68c0-4adb-912c-7af736d1d836 CLINVAR:266407 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46d697ed-eba7-4036-9425-35e1bbf0c375 CLINVAR:266407 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1157624-4b20-4ffd-8f40-9701f78999a1 CLINVAR:55017 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be28169a-7e53-4a12-9266-c99b116d04c6 CLINVAR:55017 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfd39178-3869-450e-860d-6d3d4ea0d4cb CLINVAR:55017 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb944f47-bf16-46d9-8d39-a1f29adc4488 CLINVAR:55016 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33986fb4-5953-4be7-b63f-21b451f14125 CLINVAR:55016 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e8381af-f5a9-40c5-bd9a-d48c7e695f7e CLINVAR:55016 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05d26b86-ae00-4529-9129-a7758f96839f CLINVAR:55015 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d921dece-20dc-4b2b-9bfa-1002b57ad733 CLINVAR:55015 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a144a970-f5d0-4952-874a-841e62eac32a CLINVAR:55015 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db69bd78-1811-4c6d-83f7-61d1bb22c0ae CLINVAR:548165 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42fab392-9860-432d-9152-69d3bf990f73 CLINVAR:548165 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee36dfd3-4294-4150-b465-37132fe5fec6 CLINVAR:548165 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71e9c58f-222f-46f1-a7f1-3d928e88e09a CLINVAR:55014 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0318b25-cb74-47dd-bd40-e93eda4713ca CLINVAR:55014 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31402da5-972e-4bef-9daa-77823b86aa98 CLINVAR:55014 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 544d1ded-771c-4b41-ab70-6e4d4bbc5b77 CLINVAR:55013 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6659916a-daa6-4f3c-9d41-1891eb7d916a CLINVAR:55013 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e72ba8f-e429-4c57-b98d-d50d378290bc CLINVAR:55013 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48c07110-c43e-4d4f-86d0-a62124625e6a CLINVAR:266406 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7e08fd1-5d21-4918-bd6a-b3c752f074e0 CLINVAR:266406 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d12f9b61-7fc9-47ea-8a7c-234b04e9d972 CLINVAR:266406 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b16f90b-56a6-49d8-8c56-b3d338329f46 CLINVAR:531441 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5dbf9929-de17-4580-80a9-e71c616702cc CLINVAR:531441 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fff6c7ad-17b6-4779-b62a-5a2fbc52eeaf CLINVAR:531441 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9671f74-0517-4e47-b197-02c22d4b4d59 CLINVAR:55008 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d39f47ea-7e95-4da0-a7da-ea02e4492c04 CLINVAR:55008 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b7b4fc5-59fd-4fa8-9c5d-35fe5d640b82 CLINVAR:55008 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5f198c9-4a68-4206-882d-d35fcea8fb2a CLINVAR:55006 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3397f647-0e1a-45d8-95de-450e3f7610d4 CLINVAR:55006 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be0bc61d-ff8a-433a-8e2f-151607173841 CLINVAR:55006 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a479b76-e840-491e-9d8c-abb02e29413b CLINVAR:55004 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96dee5f4-8fc2-4b7f-9c14-c14362f3a61c CLINVAR:55004 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0065a54e-5d97-458a-b8ec-cb748b1de818 CLINVAR:55004 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa94fee6-94cf-4209-8be0-e1e6a9ad96f1 CLINVAR:55003 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65d6b580-08cb-4106-bec2-45699d00f7a4 CLINVAR:55003 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6dee9b80-ec3d-445e-9ef4-f57eccabf19c CLINVAR:55003 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5f9f392-c6d8-4efe-bfc1-253c4bce390e CLINVAR:548291 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c103890f-1915-4789-9d5a-ef82620a9bd3 CLINVAR:548291 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f97ba3f-cbc1-4ae6-9378-f065c5064e70 CLINVAR:548291 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5cbf94a-01c1-4cb9-95f2-a760cba260b8 CLINVAR:55002 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b510712b-1410-4164-9260-ab6400c94b66 CLINVAR:55002 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 656bc66f-1a0f-46a8-908e-7a8e13a36546 CLINVAR:55002 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dcc2aeac-9a8e-4b7d-ade5-87f53c40eb1c CLINVAR:125653 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c0d046e-95eb-4118-93e5-6df1ad21944e CLINVAR:125653 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0509b54b-54af-4101-b69c-dfbc3c5548ba CLINVAR:125653 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 731145f2-a5d0-4d76-b88c-8895a791b827 CLINVAR:254444 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 667438a8-8341-440f-967b-cb942bd9ed74 CLINVAR:254444 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0595aa29-f47d-41fe-8eb1-6866b2ff7a17 CLINVAR:254444 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0602809b-d4d8-41a3-8f27-f4d3c38b85e2 CLINVAR:54999 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1365865-08ad-46a6-8abd-3c2b5fcc00ad CLINVAR:54999 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe8c513a-8a19-48e0-a7d3-5d00d707d117 CLINVAR:54999 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8098b9c2-a28d-4970-8cc6-c3a8b0c44f8a CLINVAR:254443 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e19d542-190c-459f-baf9-e583c4b1caea CLINVAR:254443 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb0c067e-af83-4cbe-8cec-08378847541d CLINVAR:254443 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f390ab71-cace-4f6c-ab49-343e604664a6 CLINVAR:431253 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f363543a-c838-4102-8e22-51dd7d0ef194 CLINVAR:431253 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50582321-507a-419c-ad9e-9df5487e1d6a CLINVAR:431253 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59e7ae8f-8b75-482b-b1ec-50b5541ec998 CLINVAR:55001 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98088748-5275-4803-b455-0f08712368a4 CLINVAR:55001 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22692793-22cc-41c3-956d-8d33a182266c CLINVAR:55001 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9db067c5-8161-4280-ba59-a8037c276598 CLINVAR:125650 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2748e66f-e172-4c3c-be89-bbc80be0bfc4 CLINVAR:125650 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d31dae1-ad76-4e21-9a97-5f26e305bef7 CLINVAR:125650 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5dffe16-aa61-48ef-90e3-be94afc03066 CLINVAR:55000 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e668cb0-925b-4e00-aece-9f20ba357261 CLINVAR:55000 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de6055a5-b0de-4f59-9c01-325de0a76bf3 CLINVAR:55000 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e216eb0f-9148-4934-850d-e7fa3c10efa2 CLINVAR:37547 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 903cd0a7-949c-445e-a8cd-de4f9678e2bf CLINVAR:37547 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9dec295-0653-4ad8-bc9d-ed803f132e60 CLINVAR:37547 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel daca0e1e-df4d-4f20-92d5-56689ab7cb62 CLINVAR:37546 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc3a8dd7-ad81-4fe6-9ac2-63d5355ab891 CLINVAR:37546 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 061850e0-da0a-4541-b3c0-57643c12d52a CLINVAR:37546 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65ece899-219b-49f0-82e7-d8efdd53b4fa CLINVAR:182074 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1760cee8-6668-40d8-bce5-587040b66f88 CLINVAR:182074 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72480e51-3c00-4c83-af47-b7cb60b34a93 CLINVAR:182074 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4426eddc-a661-4dc4-a1e2-d0ed65132037 CLINVAR:125649 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2de88107-4f4e-491c-a27c-128c11c4e3b7 CLINVAR:125649 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d6d19de-42f9-4b6d-b5d7-61f40e3d906d CLINVAR:125649 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22c87219-257e-4f05-88dc-d8b6cff7eb9b CLINVAR:266405 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12f50d54-ec91-4a94-997f-8213c84ca494 CLINVAR:266405 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddd4493a-2d4b-43d8-8ad3-92d95bd1c854 CLINVAR:266405 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9dd98508-37c7-4797-9a7f-810a2d21d56e CLINVAR:37545 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4452b081-ca75-4027-8914-cd12f4e8e125 CLINVAR:37545 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9154ca2d-f5e9-43a1-b47c-b09ca54d6f10 CLINVAR:37545 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb269077-fab3-478a-8e07-727d8d06d2d0 CLINVAR:54997 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bac5bd8-7746-44dd-8a95-eb5e3a2c2c35 CLINVAR:54997 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e18347b2-a49e-4a75-bb4e-61d286afcb10 CLINVAR:54997 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d226a0f4-8617-4660-acfb-3f5e8bb67bbf CLINVAR:54996 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40242ccb-00fb-4628-969b-1366f7c5cead CLINVAR:54996 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce3a3fea-3ecf-48c4-8bd5-e6d1bfbc6c42 CLINVAR:54996 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16c4f754-f1d7-4cde-8dd6-5404a31fb359 CLINVAR:548244 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6330eca6-63c7-486f-9a4e-190b6140a29f CLINVAR:548244 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36fe8bba-0dcc-4f8b-b981-f155bb692855 CLINVAR:548244 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1232dfcc-863e-4a58-841f-545f46105efe CLINVAR:548207 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d48b554-37f2-445a-9021-3acc45de5a01 CLINVAR:548207 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 844a459a-d92f-40cc-9150-a1e942e67da9 CLINVAR:548207 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eed5eb11-2088-431b-b940-59d5a1a4449f CLINVAR:91614 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5079be6-c1bb-4a9a-84f2-803d9de3a18f CLINVAR:91614 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04329578-a94d-4831-ad28-f04a9a12aca7 CLINVAR:91614 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7911166-e69e-430d-bb90-bf2414a937c5 CLINVAR:54995 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fcce03d8-1626-4e76-bd82-33b9b8cb222f CLINVAR:54995 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce948841-ee07-4392-9418-3de5d21571be CLINVAR:54995 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 102f2cd4-502f-4d4c-9885-68cc7253a1ee CLINVAR:37544 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 832adab1-8c58-461d-b2ba-4e589ecee9ae CLINVAR:37544 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d46fd9a-f278-4363-b676-e3467e9b295e CLINVAR:37544 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98655a2f-8549-487b-9b17-9e19610be1d8 CLINVAR:266404 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a00a14cb-9204-43e9-b585-60d22342ba17 CLINVAR:266404 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48ee56e6-1273-4e81-88d0-8bf9fb78fb48 CLINVAR:266404 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06420a31-f895-47f7-8a39-4c940b2c3121 CLINVAR:54992 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad5ff420-cde3-4f9e-9b2e-4dda6f194ac6 CLINVAR:54992 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f022145-01e6-45bb-93ea-096565f21acf CLINVAR:54992 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c1dfb60-ac50-4845-9011-4727af790034 CLINVAR:96915 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9412947-8f1c-4d7b-ad8c-bd4618dc7ed2 CLINVAR:96915 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a8a8812-7daa-49d0-bdf3-9a855cf1136a CLINVAR:96915 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c9975f2-5fd6-43b6-944e-05f6c698033e CLINVAR:548311 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35a852c5-3d62-4a86-a7c9-701ccd402567 CLINVAR:548311 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83dafc37-0373-4a95-994d-6ea43e93885e CLINVAR:548311 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16860220-d163-47eb-934b-8220dca49b2a CLINVAR:17673 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c449d857-b160-4c75-9925-f1c0984c0a36 CLINVAR:17673 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e7ce6fe-b4bb-4edd-bea7-7fe6425c3639 CLINVAR:17673 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8f598aa-9284-4520-aba7-339726d7f66d CLINVAR:54989 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a18cd8eb-1200-4b74-88f7-22125b4b5d41 CLINVAR:54989 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31ffba00-2bfb-479b-9d6f-2469bb9cda6e CLINVAR:54989 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 301ceb2c-8978-403f-a076-76367df9ee86 CLINVAR:431252 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b9b9aae-15e9-4739-b719-7e7528aa004f CLINVAR:431252 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1dcbf84-4436-4f01-9680-c1ca558f34c8 CLINVAR:431252 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f9e5910-6fd0-4c44-be78-8c5cffe554d5 CLINVAR:54988 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 493a5bd3-f587-4720-9991-0531c8611a78 CLINVAR:54988 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98d62bc8-89c9-482c-97fa-5ceb91079ebe CLINVAR:54988 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4055c0a2-f255-4362-9e86-045b518b91d6 CLINVAR:266403 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1aab428-ea77-4777-af4f-bfc755933946 CLINVAR:266403 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df78a047-9b53-494b-9195-2de6c6ec839d CLINVAR:266403 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 328d9d5e-2a4d-4d67-b0d5-55809c1f6795 CLINVAR:548228 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22d3f6a1-3675-4796-9696-a5ae4b2480df CLINVAR:548228 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 579f5bd7-a783-4f20-b97a-3116907f3ac4 CLINVAR:548228 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a917ef7-04f5-4a70-8c57-8b274727bc45 CLINVAR:17672 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fceee4ef-38e9-4ade-8d27-123f3faa27e9 CLINVAR:17672 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15c7ba42-e9bb-4a63-b9a2-813a0f63eea5 CLINVAR:17672 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 94cca55c-f74b-42bb-91d6-22e816fe64c6 CLINVAR:440468 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2953096b-08e5-4197-9a0f-1dfadef89eb1 CLINVAR:440468 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49b61ee9-0c38-46d0-af1d-7ce6aa687c1c CLINVAR:440468 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6211c96-cf6c-43c5-9e7b-605bb38f374d CLINVAR:125646 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54c70a28-d57b-4a14-9a8a-8ba37c91bb1d CLINVAR:125646 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11f66143-2225-4262-98f5-7ec94283870c CLINVAR:125646 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4cb8c01d-abb1-456c-b9b2-938ff9889d54 CLINVAR:266402 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7401b8e5-2753-4b9b-952c-0665dcaaa14b CLINVAR:266402 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9182d74d-87cc-4eb4-81f2-2537f8919223 CLINVAR:266402 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17a80c76-dcc1-4e44-a077-cf498417660e CLINVAR:54981 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85566067-bf5a-4c8c-b27b-63d5720302ae CLINVAR:54981 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96a908ae-6fee-4c21-96ae-f41200c4fb8e CLINVAR:54981 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 70618b5e-1d89-4da8-81db-56354ce9a9d4 CLINVAR:266401 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29a05ef9-959b-4501-89b4-ff833fd8c8ba CLINVAR:266401 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d159f41-c788-40b6-9c9b-c91bcbe35854 CLINVAR:266401 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 100a5883-e440-45ba-ad11-accd454e180e CLINVAR:54984 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a20ed2bb-2c4c-4d03-acc8-1c812ab2a182 CLINVAR:54984 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e38cf4c-72f7-4bf0-9cd8-971114854b7a CLINVAR:54984 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0386182a-55a7-499f-8e80-5a44f13a5a98 CLINVAR:548248 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 131aeb32-e9a6-414e-a9d4-3778fc1956f5 CLINVAR:548248 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e61de85c-f4ac-4477-bb6b-a08c264506d1 CLINVAR:548248 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47c1ce5d-bcb2-4fc4-9389-d778a6faed0a CLINVAR:54978 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0690f25e-e973-48d0-8ee7-a7c4a2beeb74 CLINVAR:54978 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f2ba04f-3856-4619-b0ea-842ac74bf393 CLINVAR:54978 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fae08d12-6c93-4f2a-92cd-ef2423739cd5 CLINVAR:54977 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c6a52fa-4529-4cb1-a6af-f5b0b3aaa5f0 CLINVAR:54977 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 317b036d-e4d4-4233-84b0-a3cd9cd9d7e4 CLINVAR:54977 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99e62b8b-bc52-4a47-bc0d-8b7c78aab004 CLINVAR:54975 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b6f37dd-d097-4bb2-a43e-61af599bc5e7 CLINVAR:54975 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e13a04b7-4531-494c-82e4-319c4dcdca92 CLINVAR:54975 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 66ec5850-7aa2-402e-972d-fd2158614f34 CLINVAR:54976 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c1dc23e-48af-4ca2-817a-969520b56e0e CLINVAR:54976 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1214b99e-a3a8-4410-b75c-ad8f57511c6c CLINVAR:54976 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f8896f9b-6532-44a6-8a9a-647865b2b16c CLINVAR:431250 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53713446-a06b-4b10-9ef0-f6da75b680c2 CLINVAR:431250 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60b25a70-f6c1-4c1b-abe4-c9ef327e75fb CLINVAR:431250 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 271a149e-4685-4389-8e26-5385af6c2658 CLINVAR:54969 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d319e9d5-6b23-47a0-ae70-f9adf968e3e3 CLINVAR:54969 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79751409-bba0-4f7f-b366-602f30b73b75 CLINVAR:54969 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e585b1c9-6064-4633-8172-b3aea5a17f1e CLINVAR:254441 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0efb2f81-0fcb-4efd-8593-83b6f6ce2a0f CLINVAR:254441 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc40594b-993a-41e6-9afb-c7d36af881d5 CLINVAR:254441 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9f00689-9b8f-432f-90bc-eecc4bc7cea4 CLINVAR:54972 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a440ed7-4189-4148-af60-41f063d4e981 CLINVAR:54972 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8b0c3de-1fff-4474-b055-91f3421d929b CLINVAR:54972 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7eca103e-cc66-4800-b4cf-595ca558146a CLINVAR:54968 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5502855c-3314-43f1-a2fd-35d49b7889cc CLINVAR:54968 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2b8694d-3835-40d6-90bf-cb545b86363c CLINVAR:54968 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e707bcd1-d814-4156-898f-c95b561180b5 CLINVAR:54966 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08e3dcd6-119e-4f66-923f-d6fef47c68a4 CLINVAR:54966 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83b5fa2b-176e-41bf-a3b9-67c8d21e30f5 CLINVAR:54966 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd6d211b-b1a0-466b-a298-2ca539d5c34b CLINVAR:54967 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40bcb374-5b96-48fa-bbb0-a421b8f12ba4 CLINVAR:54967 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7234891d-7893-45f9-b4f9-abc3f28d6919 CLINVAR:54967 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76df6a55-8ae8-4ff7-be19-ee4197201942 CLINVAR:37542 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab58ce4a-1c7b-454f-8f6f-86893fe10376 CLINVAR:37542 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfa7b79f-fe04-4ed3-943a-e11938b3e0a0 CLINVAR:37542 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 435c3583-e56e-465b-bfbc-6505c9a7cd4b CLINVAR:54963 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef996f60-6fff-4900-893d-d3abd692c9c7 CLINVAR:54963 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56f5e67e-3a0b-4182-8ea0-46260364eecd CLINVAR:54963 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dea6db78-d574-44bb-a371-e3db036a5044 CLINVAR:254440 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44c10a88-12fc-4126-93c5-6bab3d5264d8 CLINVAR:254440 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa588404-a711-4112-b937-545c5c81202b CLINVAR:254440 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c8843281-bebc-4331-9f82-dd5cbe95b0ac CLINVAR:254439 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b5a0d55-360b-4c2e-a72a-31cbf981026f CLINVAR:254439 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c439c82c-b2a1-4c07-8c68-384f6763dbec CLINVAR:254439 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a903232-af07-45d2-9803-07d79c93b812 CLINVAR:54962 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66279338-a811-42f6-bee4-76c9c6bff292 CLINVAR:54962 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 166e590a-a9c8-4d69-bfdd-967abe08cdf8 CLINVAR:54962 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87234ce0-b3a5-4ea4-8cd4-f2912c8dfdc9 CLINVAR:37540 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42b26e43-b4b7-4efe-b01b-2d6b475fea24 CLINVAR:37540 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9a206cf-9a6e-479f-8359-7e5906d1ad52 CLINVAR:37540 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8adb47d5-bbe0-4cc0-886d-48d24ac81415 CLINVAR:37539 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae0fa443-d77c-437d-8b26-92ce27706909 CLINVAR:37539 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba673f2f-615d-427b-bef9-be348fcc52f8 CLINVAR:37539 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bccdde13-c903-49ce-a8e6-f7025008f54e CLINVAR:54961 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar acc65f41-634c-47c9-8edb-f311aaf9278b CLINVAR:54961 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 831466dc-7f41-44db-b321-dbcb9b4e9163 CLINVAR:54961 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2435e468-a4a9-4622-aecc-8baeda99879a CLINVAR:266399 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ebf2e6d7-a03d-4456-b20b-be366df32532 CLINVAR:266399 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e94b60d-9d9d-491e-aa31-78360dedf560 CLINVAR:266399 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5140627-5c20-4453-b074-59f12125b24b CLINVAR:245968 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71921e26-70eb-4c90-b8ca-2a0b306009cc CLINVAR:245968 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37ceaffe-ac24-4ff8-8a23-31df5146040f CLINVAR:245968 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 890a3b76-f921-4b76-9fc6-4fa23dee3f07 CLINVAR:91612 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54faf8b4-54a3-467b-b931-0253e06e856e CLINVAR:91612 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0d39d24-2504-4abd-92c6-2bfa18c64580 CLINVAR:91612 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc213434-4988-4223-b035-ace8a35bc22a CLINVAR:54960 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03c23faa-8a25-4ecf-9849-5baceb388dea CLINVAR:54960 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 128d869a-f374-402e-b40e-3f4f81f1feb7 CLINVAR:54960 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e09fa9b-92a7-491e-9e6e-a39ead0101e0 CLINVAR:266398 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfe316f3-b5db-4f43-a768-8db51197f63d CLINVAR:266398 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6fc171b-f52e-4a00-baf3-e7a7b3daeeb4 CLINVAR:266398 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 068187d1-74c9-4e24-a5c6-188cc25c68fe CLINVAR:548246 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94a33a36-22e8-45b1-a987-ea49e7550eb9 CLINVAR:548246 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55efc108-0d71-4742-bf9d-1b2e2bea7110 CLINVAR:548246 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc8f32a1-34d7-437a-9387-83ee06b8163d CLINVAR:54959 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6e13f32-910f-4c2f-98de-bce514cf701d CLINVAR:54959 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6f5fbb1-bf25-4cea-b18f-f8eec4b4feb5 CLINVAR:54959 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 430ee277-4acb-42e0-a89d-8e10f83cb4ec CLINVAR:54957 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b73f7b13-96f2-4efe-bd6d-d17076ada1cb CLINVAR:54957 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce026d88-2b5f-4344-9cc8-d183cf110adf CLINVAR:54957 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel decb0265-2b3f-4b25-a409-1b45029d7ec1 CLINVAR:186452 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c70a2c1-09c4-47ed-b98e-d4649f6f03c4 CLINVAR:186452 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8591d93-a3ea-4893-91b8-3e292aa11517 CLINVAR:186452 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31b7fdb6-497e-40b4-b9d9-59045169b1ac CLINVAR:531283 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 609b1217-35bb-4fdf-99f9-e31f402c0f93 CLINVAR:531283 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bb151ea-1217-4ac9-915d-b7296030208b CLINVAR:531283 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9ce89c3-3169-435f-a265-7b4ace383d0e CLINVAR:266397 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e838288-e544-4fcb-a63b-234428e040eb CLINVAR:266397 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9b83c3e-b450-46eb-9467-9152145c1e86 CLINVAR:266397 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b08498a6-b8b8-49fb-a30c-cb68b1065037 CLINVAR:548286 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d863b74-2e2a-462e-bf46-82b52b8f3dbf CLINVAR:548286 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99609743-42eb-4f7e-ba6a-b93c41088f05 CLINVAR:548286 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0acb3d42-2c5c-48cd-9f92-8da40b597eaa CLINVAR:54954 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 622118c2-6f1f-45f2-8229-2fcdd54f332a CLINVAR:54954 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58349ecb-4bf7-49d1-89a9-a974666496d8 CLINVAR:54954 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ea15685-d76f-42e3-80e1-96f1dcb50029 CLINVAR:125644 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d890a906-34ad-4ef9-b254-4b483d18ec70 CLINVAR:125644 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfed5ec1-2a84-41c8-93a0-52f66b78b70f CLINVAR:125644 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05f5d9eb-f8d4-4e1b-8cce-392c10f36016 CLINVAR:37535 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1c9d382-f04e-4cbc-99bc-70aab81e7e8b CLINVAR:37535 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18bcc511-7f2a-4b98-aab3-2e6ba00f9560 CLINVAR:37535 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68dac56d-c2b6-48cc-a4e2-ce6f19a6533f CLINVAR:417831 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47494752-28a3-412b-881e-d1483b40a932 CLINVAR:417831 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a9a8c05-20b0-4c9d-a2bd-cb459d9a8f30 CLINVAR:417831 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0870f2d-c808-4932-aaf0-f8d69ab51385 CLINVAR:54951 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b188f894-bbfd-4d9a-8fe1-f8c252f571a9 CLINVAR:54951 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ac690d8-2725-4933-ada9-1349eb1e38c6 CLINVAR:54951 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67f58c27-cd7e-48e6-9dc9-ffdba6633461 CLINVAR:431249 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2166a9d4-e46e-4609-a25e-d19463818e28 CLINVAR:431249 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96b6872b-d3be-4dcc-96e4-625c1457cf12 CLINVAR:431249 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 590eba6d-4dba-4e0a-807b-ad43e05f186f CLINVAR:54950 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46c79b0e-fa61-4034-929f-2b58a607ec8c CLINVAR:54950 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7ef5641-3aff-46da-b2b0-1bcb2c29b1a6 CLINVAR:54950 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78657e36-2237-48b6-83af-d25bd682e6f4 CLINVAR:54949 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92fc27c0-9818-46d1-baad-f7b3e97de5d3 CLINVAR:54949 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d9b87c8-a933-468e-960a-50b258756553 CLINVAR:54949 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 515a6ed2-9c44-40ae-ac5b-2b5f4645755e CLINVAR:441386 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b146d319-323b-42a5-bf39-cca58845a87a CLINVAR:441386 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d7db3d3-a79a-4371-848a-1df8733db65f CLINVAR:441386 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 19d6fc83-0948-4a76-80de-ebb73f9b30f4 CLINVAR:431248 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f224277c-6744-4d3c-a71b-5ef16977d3c5 CLINVAR:431248 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f788b0bf-05e1-4f38-98c3-d6c612d870f1 CLINVAR:431248 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16668021-b742-4b42-939d-6cb00cf0247a CLINVAR:254438 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91de058b-e4b4-4b24-bf20-339a42719767 CLINVAR:254438 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf141fe5-d2b8-4db3-bc7d-9f2c19a3f005 CLINVAR:254438 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee020181-29e5-4951-bc4e-d688896a74e3 CLINVAR:266396 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30dbbf9c-4a29-457a-9c4b-0b60b7885669 CLINVAR:266396 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b9c77d3-e9ef-4531-89f1-44e09345bbc2 CLINVAR:266396 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c91fb608-c3d0-4869-b357-dfdbc3fd0867 CLINVAR:54947 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c848e9c6-4a37-49ef-a27e-4201b9a5d63b CLINVAR:54947 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5654fc91-14a9-44f6-b9e3-539ceec0bec2 CLINVAR:54947 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4786685-9c5c-4b5f-975b-c06623541880 CLINVAR:225306 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54a64ade-e5f9-48dd-916d-aeb9f15ca887 CLINVAR:225306 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f679cf7-0efa-4478-b3fe-a45a4fb7dca2 CLINVAR:225306 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5a3c9b3-2701-486a-aea4-01dbbb1f17ea CLINVAR:54946 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75cfd4e3-0baa-4a59-8a2a-bfedc2157530 CLINVAR:54946 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc6900d2-5d80-4924-abee-af5ae918a575 CLINVAR:54946 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac2916e1-f4ac-45a0-9a70-068e5339ec86 CLINVAR:37534 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 588d420e-def2-4d8a-8e31-e68323e88fda CLINVAR:37534 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12ef0fa2-dfab-45d6-a839-25c9fd54c50e CLINVAR:37534 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44f95d55-1e90-46bf-8014-512efdc7f84a CLINVAR:54944 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b761b97f-f71f-4878-b896-6d91d668f8fe CLINVAR:54944 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07d58b5e-caa6-49f8-ba7e-7cfcc3ab9767 CLINVAR:54944 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c7009a2-f1aa-44d5-aa55-c64d3dde7c75 CLINVAR:54943 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cda0bdc-f356-4b4d-87fe-3ecfde170b25 CLINVAR:54943 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc8dc100-c5c8-4492-8e59-2c76a606eba4 CLINVAR:54943 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3bf2c3a9-bb99-4111-94b9-a350c968e87e CLINVAR:266394 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3dfc18fc-8da4-4573-880f-335f749a4ff2 CLINVAR:266394 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51909ef2-859c-425d-8fa0-63f2e67bb625 CLINVAR:266394 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ad18303-33f1-44d1-8a15-02abe887c4fc CLINVAR:187637 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f39e3598-1607-42a2-826f-1e12431489dc CLINVAR:187637 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0d94c81-5355-4895-ab4c-f330607e6631 CLINVAR:187637 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3b66001-8fb4-4996-bbb5-a685de083374 CLINVAR:54939 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d090bf3-63b8-4c71-8f33-ddf52746d65e CLINVAR:54939 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a7d169f-3874-4437-a96c-9463e37fede2 CLINVAR:54939 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3658220-063a-4bbc-adcd-5825a5c6e963 CLINVAR:54941 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bc55329-3d36-426e-8963-2899a4fc8fbd CLINVAR:54941 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c359fc8a-06a6-4171-a78d-2d61536b6c47 CLINVAR:54941 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4653cf03-8b02-4bff-885a-a7e47865c057 CLINVAR:254437 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32b4cf2c-fc5d-4525-b697-cf73df46c836 CLINVAR:254437 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07fddf7d-89fe-43a9-9c21-778745c0217c CLINVAR:254437 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a499c75c-3701-4b53-b707-cb6ea35dd2fe CLINVAR:125642 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eed55b39-6857-4eb6-8aac-1804b372fedb CLINVAR:125642 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbdbe81b-7570-4502-9131-9f1e859e5f57 CLINVAR:125642 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44aa8a36-471f-4b5f-802f-1c7eeab72fa4 CLINVAR:54938 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcf5e554-2bd4-44df-9451-68da517f06da CLINVAR:54938 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ffe6cad-d834-4e58-9424-cb7277cd80e1 CLINVAR:54938 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b95003a9-6669-42b3-a28e-797049ffc524 CLINVAR:254436 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab0cdb09-0452-47f2-be71-9ff9b73e8914 CLINVAR:254436 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fdf21bbd-c78e-49d3-9405-0ec8dcec23f8 CLINVAR:254436 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88b70973-ad03-413e-adc6-d86d8e637c92 CLINVAR:37533 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81fa4511-2944-44a7-bb79-f1f6dff16a28 CLINVAR:37533 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1b6a618-afe4-45b1-8b50-dc18e8e7e4db CLINVAR:37533 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97b14661-10bc-4e71-8c09-6bab1c2a6c7b CLINVAR:17671 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09da5082-69e0-4f1d-b149-2b0d81ab3d5b CLINVAR:17671 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e946033-c3a6-453b-b621-78fe1e8b2248 CLINVAR:17671 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de1c5d52-9105-4c31-9e2e-7616b4bd298d CLINVAR:266392 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bdc5ae4-b3b5-4f38-b53a-374b721483c0 CLINVAR:266392 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fed185a-a90f-47fd-aab0-7a958bb4cc9f CLINVAR:266392 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5ee0be0-3aae-4070-8c63-89e43c9dc09d CLINVAR:266391 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0a93d11-7888-4be1-a8bd-d832f047b41c CLINVAR:266391 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 855ed125-9683-46a7-8445-fffd997b892b CLINVAR:266391 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a54d8aec-b564-4cc0-9d1a-2be8b224fb49 CLINVAR:54928 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d104f6c4-b39f-4a9c-88d3-7e2b68f8916d CLINVAR:54928 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c117c50-a401-4b3c-b80a-fc31bc1719c6 CLINVAR:54928 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 824f6b3c-acae-42e1-96f8-fd0a333e55f6 CLINVAR:91609 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3672cc39-4726-4dd8-93b9-2cbf01441dc3 CLINVAR:91609 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d355d94f-46f7-4019-b09f-f147617dc9df CLINVAR:91609 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d1121e6-c2c8-4184-b344-e4b9d8d79a65 CLINVAR:54929 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 745e7191-07b7-4c59-95b6-8bf1cc654cf3 CLINVAR:54929 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80fce521-c609-48e2-9488-880cf5a29988 CLINVAR:54929 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dcb34092-d7e4-4c56-bdf4-e706d9c7bd4b CLINVAR:254435 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 772db3f3-5fd1-4fa9-b7d8-2a38dd75fe36 CLINVAR:254435 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3d8e1c7-e009-48fd-a9c7-f5cfb301e6e1 CLINVAR:254435 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad6c4808-45ce-4019-a12e-7f2ec678d318 CLINVAR:54927 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3700c6d7-f20b-4ac2-9cbe-cb8df42fc230 CLINVAR:54927 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e3501ea-aeba-4d24-acc9-6e2ba412a27c CLINVAR:54927 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21ce7543-5962-4a31-9f5f-e8e7e5364606 CLINVAR:266388 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2984f81-246e-4162-98ca-0ba8f707f083 CLINVAR:266388 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73165601-ebc5-4a14-a71b-3d6fab54f77e CLINVAR:266388 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a369cd33-ddee-482c-be2a-e432fbf8323e CLINVAR:266387 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4021582b-ad4d-4b2b-a180-c6bad261fdf7 CLINVAR:266387 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 362d7c79-27fa-4e9b-8b0a-10ae3fcc7f60 CLINVAR:266387 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 251aa0ac-5b9e-46fe-a3cc-dd146afbc7f2 CLINVAR:266389 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b83c1d13-e2ac-40ed-9673-34c4a1c3b5d6 CLINVAR:266389 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65613e44-fc8d-4656-be40-119e315f9a97 CLINVAR:266389 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02b2ebad-ab42-445c-b772-e17e526bd4d1 CLINVAR:54924 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45a8d6ea-5fd2-417f-8e3b-25e206250c00 CLINVAR:54924 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2943d837-f42c-42a8-a6a8-1e1c6a548611 CLINVAR:54924 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 455ea924-fb66-44c8-8e0b-16edb70d17c9 CLINVAR:54923 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0c4d630-d677-46af-80fe-521999aa0aae CLINVAR:54923 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0bce792-7bde-49ca-9a1e-7295f54ecb82 CLINVAR:54923 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47fb87ab-5839-491b-bcb7-a596cc48bfec CLINVAR:548232 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22502005-22a9-4b27-a7a3-3aa2b8540dea CLINVAR:548232 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24ef5987-5e51-47cf-8d2d-ad605b364b54 CLINVAR:548232 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 533b93c7-8ba5-46d6-97df-93bb24180d9a CLINVAR:54921 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00054b11-28fb-4940-8b4d-21de1a77091f CLINVAR:54921 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8cd0828-4f66-492d-b544-4442c6c5644c CLINVAR:54921 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1d557a3-1afe-40bb-ab52-1f625543d0bd CLINVAR:54920 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2efa232f-28b7-49bf-9a3a-a8722f9918fb CLINVAR:54920 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8cba5d1d-1761-45a5-b2b7-014bc6f33cdc CLINVAR:54920 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a398d1c-2a7a-42a0-b988-1e31d3a58e5d CLINVAR:548182 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 625dee0c-c260-48dd-87a7-59db25c5c4c7 CLINVAR:548182 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 609586bd-f3f6-48bb-94ca-9ee327fc900c CLINVAR:548182 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c05be45-de0f-4291-8593-08172c00a3b0 CLINVAR:266386 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 120c410d-a2c8-49cb-9a5a-d655953d54f7 CLINVAR:266386 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff6df517-c702-4549-a8c0-6e2025bc263e CLINVAR:266386 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6965993d-dff8-41e5-907e-c7c2516f01b2 CLINVAR:254434 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8c1bfb8-e8ab-4799-9516-c7f4af2ce317 CLINVAR:254434 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b22e60ec-598d-4fbf-9448-a3e48cf038ad CLINVAR:254434 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb853a08-5e39-4381-89c2-4d7450737577 CLINVAR:54918 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ccb44736-5608-4fc1-8a7f-1b2f4e62f793 CLINVAR:54918 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3fd137b0-31bf-4601-98a8-6a9bd12c4a6a CLINVAR:54918 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 449d630c-2f63-40b4-9f21-cb5c3e753f31 CLINVAR:266384 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cf25892-8cec-4ec9-b04a-f82ff5340e28 CLINVAR:266384 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ba2dda6-706b-4084-8709-73bc70c0e05b CLINVAR:266384 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e35972ce-746f-4903-a22c-18cc2b83a6c7 CLINVAR:54916 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb6de783-c9a5-481b-950c-1c5005418329 CLINVAR:54916 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a78fdf21-00b3-42f6-b882-4d167d7e6cd9 CLINVAR:54916 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7df615e-11dd-46f6-95b7-eb99a61a53e6 CLINVAR:54914 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 410a263a-1cc5-4375-80c9-879386e9957a CLINVAR:54914 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33a9e8e6-4cc0-428c-9f5b-f4309dec8431 CLINVAR:54914 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 845d2e73-f26f-4fc5-b2df-6eda60d78659 CLINVAR:54915 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6dff0e09-593f-4b2f-afa1-66162c032b9c CLINVAR:54915 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89f6f649-57db-42b1-80a3-c95e5d46089f CLINVAR:54915 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b9199bf-6da0-4a9f-8e42-0b1b2ba63fca CLINVAR:125636 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4598e150-2d58-403b-8b4c-a3a28c4b6cf9 CLINVAR:125636 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3a2a42a-dd39-429e-9bdb-84e9537911f1 CLINVAR:125636 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f99d9270-c794-4aa9-bbc6-6f015d2512ed CLINVAR:254433 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28b94af2-9140-4352-8ccc-ca84e3c260d4 CLINVAR:254433 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba4a5947-5f77-493a-bbb2-11daaafd26ac CLINVAR:254433 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08a03d0b-13df-43bd-9c98-e006b2460df4 CLINVAR:54913 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38f3d0ca-ef75-4091-be47-6ffb75654594 CLINVAR:54913 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18f0deff-2a92-4452-a1a3-1391509a7328 CLINVAR:54913 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea3cedb1-3e15-4956-bb98-8fca5a085ec2 CLINVAR:266382 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f192c33a-03a7-4b42-b983-51d1d41d72ca CLINVAR:266382 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a0297b7-07e9-45ca-913e-ee08e155966a CLINVAR:266382 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2fb3cd2-beb3-4522-a807-066c1bc72580 CLINVAR:254432 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c28be601-2a56-45ac-8041-9735e903e2ad CLINVAR:254432 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d1be374-df81-4437-9a71-955d26cc8ba7 CLINVAR:254432 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56010af6-1b6e-4b4e-b57e-f6a7dd739b6d CLINVAR:54910 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4e8484f-7f7f-4833-a2e7-6e0e9e397e2c CLINVAR:54910 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97f6be6a-2241-4c7b-8720-0421b2601150 CLINVAR:54910 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f98abc86-30c6-4727-aeff-f856aed52c59 CLINVAR:266381 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d36f7e5-1308-43dd-a344-87048f68bd4e CLINVAR:266381 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d28c8157-c7f1-4082-937e-0a2fbe24f84c CLINVAR:266381 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b88cc73-9833-41bc-ad6b-35c5c4f1245b CLINVAR:254431 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d1070fc-f07d-496f-b475-7d655b8c5c90 CLINVAR:254431 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04c5ffcf-de6b-409b-8b32-41795c2cc3b9 CLINVAR:254431 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00441b44-21c1-490b-8037-d8e6f272e034 CLINVAR:54909 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 274bc648-6fcc-4c29-9ad4-744c0b3ec8ba CLINVAR:54909 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df9b6490-a81d-46cd-b343-9aeaf5a96bc2 CLINVAR:54909 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1010b4c-3997-4d4e-8042-88da4bcd9c3d CLINVAR:419648 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0347e07b-5d9f-4c36-95f9-39c93bdc027f CLINVAR:419648 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 493ce7fa-2b9c-4f0a-a923-ab257a59b99a CLINVAR:419648 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d57db81-69de-4c54-8e16-6e903c830641 CLINVAR:54906 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0648f658-1556-4f1b-8d57-160b1cf0c98b CLINVAR:54906 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa0b245b-db53-4035-b32e-8d9040db6dbe CLINVAR:54906 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99ca6bae-c417-4684-a581-d747ad79511a CLINVAR:266380 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11a1b85e-9e1c-48bf-9962-32cb71837e1a CLINVAR:266380 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de040dec-29fd-4baa-9b93-532173c7db80 CLINVAR:266380 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76180261-213b-466a-8ab1-8443842efb6b CLINVAR:183177 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f17117ea-1670-4d31-b5ff-196f7f949d0d CLINVAR:183177 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1a2a39b-f963-4ada-891b-1e38d789cef9 CLINVAR:183177 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e3e6051-4c01-4cd6-a982-f09e7b7e6d26 CLINVAR:54904 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 418f72ed-77d0-4e95-9e3e-78d0808608ec CLINVAR:54904 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ec9fdf5-42a2-437e-b34a-4d3ea27afad8 CLINVAR:54904 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d186936-d5b8-4b57-ae14-425a71eb89fc CLINVAR:548160 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e0af689-dc90-4c98-bebd-9128f1c64088 CLINVAR:548160 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ccc6c58-a24d-490d-884b-9887565e74f3 CLINVAR:548160 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71fe7e62-197d-4ca8-894f-3cae9820bdfe CLINVAR:266379 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5da4c240-cc7e-4c43-8a15-121ea71c13f4 CLINVAR:266379 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2fe2b48-9afd-447a-bfd3-460ede9abc39 CLINVAR:266379 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1be31635-e5a8-404b-9c75-5e33bd75467b CLINVAR:54903 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c7649dd-2af7-41dd-a7aa-2a893c86e9b8 CLINVAR:54903 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a80263d-0cff-455b-a18e-e51cff1ad9dd CLINVAR:54903 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b20f1c5-15af-4207-b409-390c0312fee3 CLINVAR:37532 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3aa6a7d-f07c-473f-a182-a9c9d1d5da6f CLINVAR:37532 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4e1728b-e40d-4886-80c1-73c61cdd30e7 CLINVAR:37532 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67d94df6-a49f-4bd0-a011-b033aba12198 CLINVAR:266377 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f9120e9-3d2f-4a05-b9f2-5292babe8e79 CLINVAR:266377 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e65ebdea-0c08-47b7-a2eb-238879eca946 CLINVAR:266377 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54074ae8-778c-4456-9efc-c9094edbebeb CLINVAR:266378 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31035da6-5fac-4c07-bc4d-b11c8fca8e2d CLINVAR:266378 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c93d550a-aba2-4318-be47-ecbab7683bf6 CLINVAR:266378 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63d40d92-5b02-4882-b001-12ed2cc8908e CLINVAR:254430 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4ca3519-75f8-4924-8984-70b508a0a94a CLINVAR:254430 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e565966f-094c-42f4-884a-068bf06ff170 CLINVAR:254430 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fdea40d-64c1-44ad-b4ba-51077b472ba2 CLINVAR:54901 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db7450fa-9d63-4153-b5bd-e4730ecc6efc CLINVAR:54901 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4359992-dd7d-4a47-b3d3-e14008cb8fa2 CLINVAR:54901 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e85fb388-4b0f-4e2c-8073-313e537c26fe CLINVAR:431245 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a6f73e6-3965-48b6-aabd-1480ac27415e CLINVAR:431245 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3972f16a-b9eb-406b-9d4e-1acf1b4b09d6 CLINVAR:431245 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9ea5d1c-433f-403a-aee1-7c320619ffd8 CLINVAR:266374 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ce83252-b44c-4e1a-903a-bb58ea1211ed CLINVAR:266374 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42d66e01-50ec-4ad5-8d9f-94305f9d400d CLINVAR:266374 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e4797b8-b54b-400c-a3b0-92e70ab1ccf1 CLINVAR:266376 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2274f3d6-0241-460b-83e9-0552ad1e1bb1 CLINVAR:266376 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b9f7156-2e84-49a4-addf-ba7116827fce CLINVAR:266376 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87e8ef48-9caa-4d39-9683-d207db64e913 CLINVAR:17684 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 753f3df1-bf99-417d-8cf0-647210de3b53 CLINVAR:17684 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbc0b3e6-dc2f-4803-a872-132a893310b0 CLINVAR:17684 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a87410f7-08ea-4f35-bfa4-6d4a97044042 CLINVAR:266375 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3158e00-997e-4b9a-a2cf-b2f77b81023c CLINVAR:266375 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54560eee-0d2f-4bff-b858-19431ea8c8ab CLINVAR:266375 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 154096d3-aa13-4c99-a01a-f91dd1280e0e CLINVAR:54897 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c49e6627-b593-49f4-aa47-afbfa6d7b0af CLINVAR:54897 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cc1506d-fe73-4ac3-a794-92bcc7fe25d4 CLINVAR:54897 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26d8d749-662d-4efa-90f9-73e4ee4ef533 CLINVAR:187386 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50682c61-64a5-4e5b-bd3e-b15cdad61417 CLINVAR:187386 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b543e9d-ddeb-48dc-b7fa-f0f7ff654713 CLINVAR:187386 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35699f1d-0f94-4a42-bb94-de012d249f8c CLINVAR:37531 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eacc105b-9f13-41b5-b2c0-125708d9537c CLINVAR:37531 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43750972-db95-43ee-9d20-09bfa18a11b9 CLINVAR:37531 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ae8efe6-3346-4ffa-b248-d3d8839ccf48 CLINVAR:266373 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6f90cbc-ba84-4961-9fca-f40c24ca2f5e CLINVAR:266373 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d7044b3-2870-4f19-98a0-8e83bede4076 CLINVAR:266373 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24e7ee12-1952-457e-a32d-b4977aefec73 CLINVAR:54898 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edbe4067-1c6c-4ede-9e6d-662650b039dc CLINVAR:54898 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71c3182c-de83-47b9-9e73-ba8dd37d4685 CLINVAR:54898 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24274d61-5797-4e95-b790-ec5d34355fa3 CLINVAR:187055 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0baadbd5-5221-4bc7-8873-6961cba408d2 CLINVAR:187055 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cae578de-325a-458a-95ac-67fa359ee759 CLINVAR:187055 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea17c523-4858-4380-aba9-ddfbd1c06425 CLINVAR:54896 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 058e6fd9-02de-4ade-a28b-91c6d7e87eca CLINVAR:54896 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar acd6521f-b40a-4bf4-b36e-98a1a93ba7df CLINVAR:54896 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10065863-14e4-45a8-8924-09d6f047b417 CLINVAR:431244 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18703a4f-a278-4922-b5a1-6924429d0c82 CLINVAR:431244 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46b79376-c7ba-4209-a84e-9fc7b30db566 CLINVAR:431244 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72a67e8b-4404-46fd-a606-a44833751060 CLINVAR:266372 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2da292e6-a1b4-422f-9d44-3b9f8c451342 CLINVAR:266372 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39352b8b-c54e-4e91-a3f8-b9e7369e22dd CLINVAR:266372 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac5d96a6-2a3a-4487-af54-d4d33b468d1c CLINVAR:54895 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d5c73a4-2936-4813-8710-f300fa022a14 CLINVAR:54895 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8352cb5f-48bd-4ec5-a374-55785ca0f0db CLINVAR:54895 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86d2d1dc-601e-4f8f-beb0-f71b28a0c9c5 CLINVAR:54894 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0dc5a4b-72ac-4f93-b949-822cc3f9dba8 CLINVAR:54894 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f38360d7-6cbf-4521-b05e-faa539b69e0c CLINVAR:54894 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65fba39b-f2f0-44fd-916a-1d8431a1bb4b CLINVAR:54892 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c038af0a-f630-457d-b27f-992fe7f12d20 CLINVAR:54892 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76ede288-c4a9-47c6-90d9-d0ad8164aef5 CLINVAR:54892 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 207ecba7-bde8-4ab1-bd0c-561e209cf498 CLINVAR:125632 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3edc6889-d6f7-4008-9d6a-76341ee9587a CLINVAR:125632 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1eb62005-0cd3-45ce-8ea9-06cc6699f61c CLINVAR:125632 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3e4ad16-59c5-47fb-b2f9-9aa427245111 CLINVAR:254429 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dac790c3-feb4-47e6-bc9a-1f4ae0462daa CLINVAR:254429 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe7cc4ee-3051-44e1-8313-131337dd2c7a CLINVAR:254429 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7971809e-99a3-4f6d-b124-70d4bc014ac5 CLINVAR:266371 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f3f65c8-66ab-4f57-a7f9-5f0a3c338d53 CLINVAR:266371 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a2a2267-37d2-4004-8a9b-9351cc33a7ee CLINVAR:266371 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b521b25-eb9b-47ea-a747-c8cb0a016626 CLINVAR:254428 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 730c94f9-b890-49f9-970b-b25a75976c80 CLINVAR:254428 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e6b72ca-df66-498c-b487-ef93a4e06139 CLINVAR:254428 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21128c48-9934-4ee2-a759-039faba4ff4a CLINVAR:54889 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49bfd8d4-699d-45c2-a1be-4b10139f84f3 CLINVAR:54889 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c350a8e-2ab1-4bff-b1b3-0d642f7648f8 CLINVAR:54889 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b0e8cb2-6c67-40c9-a226-3c76393ac58e CLINVAR:54888 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8250245a-3323-4f5c-a00a-b4d96076f0ce CLINVAR:54888 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e89edd97-ac13-42f3-8f04-91d6090d961e CLINVAR:54888 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4c746e0-8bb8-4551-a87c-52446990b7b5 CLINVAR:37530 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64ee4f46-2f54-410a-85c6-03601603ce34 CLINVAR:37530 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ee9543a-9032-449a-aef3-600bad433865 CLINVAR:37530 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbfad593-c33f-41d7-9cf1-fd23d5eeb299 CLINVAR:254427 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f13f8ddc-fc4b-48df-9ad2-c2747f02c061 CLINVAR:254427 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97e5f269-1101-4c28-ae3c-b6cfb6a6fd26 CLINVAR:254427 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43fcd2cc-87fe-4068-8546-7e4df3df61d1 CLINVAR:54885 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20e2680f-86ec-403d-ad7f-96be0b6eaeef CLINVAR:54885 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0e92dbf-1542-479a-bc34-2f9f7ee246ca CLINVAR:54885 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba07646e-eb7c-4f7f-95d2-5d2d8ece6a57 CLINVAR:54883 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5369542-00c1-4587-a0cf-ca4d1728eb97 CLINVAR:54883 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ab60b50-ab5a-4c24-8470-9629a98663d2 CLINVAR:54883 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e2c4b28-1ff8-47bc-9394-3e40eb28310a CLINVAR:54881 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8ed435a-7924-461a-aa65-880580a7d092 CLINVAR:54881 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 606bf146-807a-42a5-9716-47d5a626f5ff CLINVAR:54881 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1a8e471-365f-47ec-bf42-454481e1b085 CLINVAR:266369 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 518930fe-c676-4515-bac9-ff4933b5def7 CLINVAR:266369 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9073552c-b3b1-45a6-9b9d-cc77ab245b40 CLINVAR:266369 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ab5ce67-5e3c-4989-8661-01b7d3cf6acb CLINVAR:438924 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5418c8f0-1640-49bd-bf5d-372227db3cb0 CLINVAR:438924 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fecf354-25b2-4163-989c-ca9369d89ab9 CLINVAR:438924 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 320dc7c5-5951-47d8-8c4e-17b9319658da CLINVAR:54877 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bdd59d77-8e95-407c-a0ce-e309913efe34 CLINVAR:54877 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c14764be-fd65-4ca0-9335-d0e8bab9ee61 CLINVAR:54877 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65a9ea93-c61c-4b8b-92ae-4a85f917af95 CLINVAR:54875 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7ed66bd-935d-4e86-9212-7a8e370fc010 CLINVAR:54875 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a41dd797-60ed-44c7-944b-b8b2b2aa3f0a CLINVAR:54875 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6b73855-1641-451b-a2c7-cbf994344765 CLINVAR:548192 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4aaa7b2-0d8a-4a8d-b101-06b06536ca25 CLINVAR:548192 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c08a4bae-cec3-4ea2-aeb4-1494d5a15809 CLINVAR:548192 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e599971-816e-4ec7-9748-51aff1a0d1e7 CLINVAR:54874 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f10e6f1b-fd92-493f-93bd-0ae1246b38a6 CLINVAR:54874 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a57f89b9-8bee-42c2-9ab7-7c29caa3f7ed CLINVAR:54874 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88228487-ec80-4e26-98ce-a53d996027c9 CLINVAR:266368 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7128514f-259c-4753-abd6-965b9b26ffcf CLINVAR:266368 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 242bfa97-2948-4d71-92d0-96fafbfc119d CLINVAR:266368 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42f8ab52-263d-46c6-9c23-32c0b9fdcd8b CLINVAR:54872 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e007ac7-8aab-4782-93e9-7450727fedcb CLINVAR:54872 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2d66d55-6fa7-426d-a514-4aa18e3e6df0 CLINVAR:54872 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ebc344eb-e244-4549-9288-e5676cf1ce31 CLINVAR:266367 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 385ef0b9-9907-4df3-9a39-c9160ce800b3 CLINVAR:266367 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 460012c9-283c-4d84-a7dd-f4d5ffe7182d CLINVAR:266367 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1b1b44e-5811-40e9-895a-5adbd19e6d9c CLINVAR:54868 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d31d3fe0-6c29-40f4-a7b0-a8e099cb56c8 CLINVAR:54868 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f99d9d7-d707-4cc0-9388-027b9bfb1e26 CLINVAR:54868 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0da7833f-3ba2-4fa1-9265-a2dd5e7b26ad CLINVAR:37529 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 878493c2-5cd5-481e-b098-53deb9f28945 CLINVAR:37529 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97d7716c-f7b3-43cf-9d7b-29d71852a819 CLINVAR:37529 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab65362c-10bb-4194-a124-f55a65359390 CLINVAR:54865 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd44309b-9ca1-41a2-b6d1-992df2c9ed66 CLINVAR:54865 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc8155b8-5f68-421f-86d0-a94badb719fb CLINVAR:54865 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7672fa0-ce9d-4588-82f6-a646883c2ab2 CLINVAR:54867 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd25b2f4-a910-4bad-8897-762c1fbc874b CLINVAR:54867 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 758291b8-9a31-4dd4-8bb0-2b9011876536 CLINVAR:54867 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04a0c65e-8c80-4ea5-8d9c-36c49f1367b5 CLINVAR:54866 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9dbbfcc0-5a45-4fc1-9000-8b725949588c CLINVAR:54866 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdb6a2a4-fd61-417f-9e4f-210e7c50c791 CLINVAR:54866 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8deea109-af5c-448a-a9f7-b40d246d1cc6 CLINVAR:266366 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0631a60c-9463-4990-ad5d-3a0b746bd68e CLINVAR:266366 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4979c9d4-5446-4382-b128-2ed097fd20c8 CLINVAR:266366 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb596661-11c8-4555-bf65-9a392571f015 CLINVAR:266365 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec03c64c-aab6-4132-ab9f-10ad16df2c04 CLINVAR:266365 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4adfa963-b142-4e80-aee9-f001e076677e CLINVAR:266365 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7961cf7a-aa1f-4fce-8146-4e876881f866 CLINVAR:266363 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 574f3803-5a23-488b-be7c-6d9aafd05d5c CLINVAR:266363 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 408440c6-07b1-461a-ab65-662b62e1e528 CLINVAR:266363 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b515bc5-4e6e-4de3-8fbd-7cece894f5a1 CLINVAR:54864 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc98a715-884f-4467-9d3a-60198f2ee58d CLINVAR:54864 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0ae8c27-e8f5-4d00-bcfd-7bf9d450d2ff CLINVAR:54864 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f70cfd76-8d37-4383-9670-0381cf95a9fd CLINVAR:37528 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 166422df-d261-4233-be61-9e151ffd3276 CLINVAR:37528 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e2d735e-8266-4783-8484-54d25239e0d1 CLINVAR:37528 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9ff0051-1f3d-4fd5-ac65-2cb5865c23bc CLINVAR:266364 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 688a7658-c68d-44f5-81fc-283b01840678 CLINVAR:266364 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 846bb639-a41e-463a-99d9-e7483e1ee70a CLINVAR:266364 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e26aa86-f1be-4457-ade7-e4c0b76e1ae4 CLINVAR:266362 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9aa921d1-35c5-4cc6-af37-98472b2328ba CLINVAR:266362 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0124e23-98f0-489c-bc8c-3fd36584e637 CLINVAR:266362 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d3e9e67-0a29-4a75-a260-81a2f80c23a6 CLINVAR:54863 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fea9980-a9a6-4c15-accf-02f47b89f5e8 CLINVAR:54863 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2600d3b5-fa0f-462f-b7fc-c014b6a63474 CLINVAR:54863 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00a6d64f-eda0-4d12-bb8e-fd96d0b9cd78 CLINVAR:54861 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39ea3854-0c8e-49af-9326-54a336d15a1b CLINVAR:54861 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5dc73f0-5a50-4ef1-9673-112780bfe09a CLINVAR:54861 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27966ad7-0eb5-4d69-8b6f-d1772c64d2fe CLINVAR:266361 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd2240c2-cd95-4333-8162-28c361496143 CLINVAR:266361 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a17fbba-d9fb-43fe-a98a-0fddf79ae963 CLINVAR:266361 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9943afcc-ea05-4b42-854e-9f29515f7e91 CLINVAR:266358 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44be56ff-64b0-4f16-bfc9-26b950581d86 CLINVAR:266358 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa3c163e-3056-414f-a3e2-c43135d6b604 CLINVAR:266358 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4cdbbab6-c712-4648-b674-172cc603401d CLINVAR:54859 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7856b37e-ad24-43d3-9a9b-94b7a0128ab7 CLINVAR:54859 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d0019d7-2215-4c6f-afa4-d243246f96f9 CLINVAR:54859 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f51036a7-a54f-483d-8e57-0600317575df CLINVAR:54857 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c2e2b2d-f15f-41f7-94fa-3e9af2bbabf9 CLINVAR:54857 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 874e30ab-6b68-45c2-b8f2-3f29df08ebf2 CLINVAR:54857 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2fa46071-8b22-414e-9fd4-9ea657ed7d7a CLINVAR:54858 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77684855-2b8f-4d89-a436-fa07a685087b CLINVAR:54858 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc55eef6-7cc3-45db-a470-c70f3b2ea53f CLINVAR:54858 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b16c85d-baaf-4b68-969c-3f3e240077ea CLINVAR:266360 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6659170-1794-4600-b978-bd4dd96cabdb CLINVAR:266360 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77e50f21-097c-4565-9373-9a9c88bbbb59 CLINVAR:266360 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel feb71771-4469-41bf-bbb3-b058d12a54fb CLINVAR:54856 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3fe5ad5-d3f0-465d-9a4e-113f00bcabd9 CLINVAR:54856 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 244cd11b-7579-4a99-a151-a8ac7df3e96c CLINVAR:54856 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2385d6e0-0a4e-4aaf-bed2-5134c88887d7 CLINVAR:37526 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 843880e6-bc87-4d62-b0cd-511b1ad14ae1 CLINVAR:37526 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e2dd72c-90d7-4816-85b6-bb054972a227 CLINVAR:37526 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b64dd573-1e1b-4ef5-bcc7-ba8bb96c9444 CLINVAR:125631 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7cf44b8-5b2e-4e06-a869-9c8081ecd962 CLINVAR:125631 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea0ba6c4-52c0-4a3d-8632-5df2e17f2a02 CLINVAR:125631 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb85fd16-ece8-4f28-bc46-c963dc45a32b CLINVAR:54854 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65b2768a-3ae1-43e4-a705-9b5f32fce142 CLINVAR:54854 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1226f6a7-65c2-44c2-b7ba-c1eaae0a3b12 CLINVAR:54854 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c012a794-00f6-4def-9a89-79a9141f9731 CLINVAR:37524 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99bc6882-b4d8-490e-a22f-63c3aed52c01 CLINVAR:37524 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03cf6802-1231-4c81-9231-6c4c0aff7559 CLINVAR:37524 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3204a8b-273d-4126-831c-1c02c7f199d6 CLINVAR:125630 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a98efcd-ae52-4ba4-be93-0488ec881cc0 CLINVAR:125630 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08d78e2a-a918-4cfa-aa89-a6d4b18c9eb5 CLINVAR:125630 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d882366-9255-4f79-a372-1b9d62e57cca CLINVAR:54850 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 093f24dd-a35b-4d2d-af26-75af1aaf2a62 CLINVAR:54850 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a8f7b8b-b07e-4976-9953-6810590a04d0 CLINVAR:54850 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a490d04c-5e56-473f-9992-32e8a77e5132 CLINVAR:54851 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de029c6d-8ca0-4533-b4d2-9305caae17a8 CLINVAR:54851 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 145f8dc2-e00f-421c-b58f-44d4f9c34147 CLINVAR:54851 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e7d7925-181f-4f2a-860c-0115ad4a6496 CLINVAR:266357 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edc01f46-5c85-4041-a41f-c8bfa2c3a4f5 CLINVAR:266357 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f48e3c86-1eee-42b6-a9a7-cc9da0836369 CLINVAR:266357 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12cb1da6-1893-4d27-94d9-4eaa28a88418 CLINVAR:54849 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a22af804-b934-4623-894a-52faaea5e6e0 CLINVAR:54849 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa4d66d2-030f-44ca-a749-75c0e8a7a137 CLINVAR:54849 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1b5a9b8-6298-41a4-a606-fc2c7fc3d25b CLINVAR:54848 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fdd8352b-c555-4745-b0a9-4f1a56bb4290 CLINVAR:54848 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4eddc493-b7b1-431b-97ec-6c2532bbde81 CLINVAR:54848 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93d25bb3-0c59-478b-b4f5-6657d0043fd4 CLINVAR:54846 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 723ceb96-57e7-48d2-ba99-99b229aff185 CLINVAR:54846 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1379d69-3655-430b-8149-0ba128868c2b CLINVAR:54846 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 584d06b2-7d61-4103-bb2a-15380ba0c300 CLINVAR:266355 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af4f79d4-18e3-4ada-8609-045c6d530242 CLINVAR:266355 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22beed30-bd29-462a-8df5-942121544e2a CLINVAR:266355 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb737511-067d-4916-9781-c4bc72b86fce CLINVAR:433705 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0e32b59-8e1d-4cf8-94f1-3aa0dffb0168 CLINVAR:433705 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10632a19-d35b-4c71-b8d7-71ac1442a5d7 CLINVAR:433705 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e800fd55-872c-46e9-85a9-6aa22b2eb741 CLINVAR:37523 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4225e828-1749-4936-8077-67ee69afa3d4 CLINVAR:37523 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 774c0679-7420-448f-8ceb-8fe3c3a488c6 CLINVAR:37523 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7115199f-be08-4f39-aee2-b7aa5528e5fa CLINVAR:548236 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cbe71904-3436-46c1-b0cc-d4d8a39c37e7 CLINVAR:548236 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcc4aafb-0e22-4042-b9e2-985d5b1438a7 CLINVAR:548236 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff305317-6487-4239-87cf-c27305c907b5 CLINVAR:54847 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cadb64c0-abd0-4706-8f0d-e60fa3bbf704 CLINVAR:54847 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fa5306e-bf0d-4d0d-9d5e-ecde0499d161 CLINVAR:54847 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32540df3-ee77-4c06-b035-9eec48244c72 CLINVAR:266356 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 988154ce-741d-4544-9b13-97caf606739c CLINVAR:266356 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df6a7bb9-dbaa-423d-93fa-94980a6181df CLINVAR:266356 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 778561be-e6e7-4650-9612-da14c63073b8 CLINVAR:54845 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33513043-ef4e-4651-9800-cb39a283c591 CLINVAR:54845 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 360a8ca5-b7c7-4415-9194-27ac26960c57 CLINVAR:54845 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 435dfdd4-792f-480c-b6f9-bece13ceb14e CLINVAR:125629 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 828bc952-df68-4c9b-b76a-03acd3a27e3e CLINVAR:125629 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6048eb54-9852-4894-a612-de4156d811f5 CLINVAR:125629 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85eb596e-509d-4be4-a31e-6b210aaa21a1 CLINVAR:254426 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8175161f-d452-48b4-8705-4b3cf5009b35 CLINVAR:254426 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48800bd9-756f-4798-b5fb-cc54b12b12d7 CLINVAR:254426 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6c89b6d-99ba-4eaf-b30a-a236de1be3a5 CLINVAR:54841 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b99305e4-e4fd-4988-bc17-272b105bdcd8 CLINVAR:54841 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e9339c1-bbce-499d-ade1-35cbe7d14d11 CLINVAR:54841 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e88b13d-1619-4873-9038-434ea600e194 CLINVAR:54843 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c269fe5-28cd-4798-a8b7-b1d224dc09bf CLINVAR:54843 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41e4f6d4-6c1e-4a5a-8f0a-c88051e88b4b CLINVAR:54843 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4955d87f-7eec-4336-b776-6754f82fb906 CLINVAR:54842 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 253f99d3-4b68-4d4e-9fc6-8d53c0bff8bb CLINVAR:54842 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01a3d763-40fa-4827-9612-1ced92c25868 CLINVAR:54842 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f40888e6-982c-4468-8b15-83963bb78043 CLINVAR:54839 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c858397b-6901-445b-8680-e2fbccd0ee3d CLINVAR:54839 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7301be05-4fc7-4f55-8ba3-0eba1391e006 CLINVAR:54839 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de25934e-3298-4919-8df5-c7ec45987410 CLINVAR:54838 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0d75d65-263b-4e4b-bccb-a3007e315867 CLINVAR:54838 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae542655-470d-473e-8437-ef417156e1df CLINVAR:54838 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de6dcaa3-e9d7-4546-8e00-4bde008727dd CLINVAR:54837 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43e7220b-0fde-4379-a592-6ee4cd1450f0 CLINVAR:54837 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44f496f7-65d0-424b-8236-d6fb9c1cb546 CLINVAR:54837 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd03ec71-01cb-4eb0-9471-a1d71433237e CLINVAR:186225 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64200493-fe47-4e96-8442-e35e86ffe408 CLINVAR:186225 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 274b5ca9-e430-4d6a-9019-a913464d86b2 CLINVAR:186225 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa3ef4a2-2542-44c3-bc70-b452ba9d31d6 CLINVAR:54836 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c149a865-3f2a-4d33-a9da-5f1483107029 CLINVAR:54836 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9755d5f6-5b40-41cc-9d50-601b92c02191 CLINVAR:54836 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b09af20-aa33-440f-9f67-89b59ad42b1d CLINVAR:548261 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa54e6de-43b8-4c30-8a0b-df89005ae406 CLINVAR:548261 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5021cc2-8390-4991-9a16-2076b00b4270 CLINVAR:548261 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb52d088-471b-45cb-9e79-7d22fef87a8d CLINVAR:54835 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c8a477c-6bb5-4644-a568-ecd2df449438 CLINVAR:54835 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96167634-03d0-45b7-8b40-9c0bb213c409 CLINVAR:54835 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 012a4acd-bde8-45cf-b210-fffb73b031c1 CLINVAR:548200 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f985f3fe-ca1d-41ab-867f-ffcee1873baa CLINVAR:548200 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5b6e898-52e6-4df2-9c6a-d2ae8dfc37b7 CLINVAR:548200 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d660587b-6427-4599-8758-27439d571649 CLINVAR:266353 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36397a82-4b9e-48d7-9c2f-e4d0cf68c70a CLINVAR:266353 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6a688a9-03c7-4667-a411-e8a110fb2222 CLINVAR:266353 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20c76586-0f44-4167-9cc8-e2e6bc4e00b2 CLINVAR:54833 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3adf12f-953a-4b6e-a4d0-24c7666a6390 CLINVAR:54833 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c3bd4b3-fb08-463e-85d1-a541f265912b CLINVAR:54833 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d41ba9d-ceb2-46ce-87a3-b53729c7c888 CLINVAR:54824 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9287e2b-bc64-4d55-8bf8-3c275d140438 CLINVAR:54824 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2457357b-cbca-4aa5-ab1d-a0a97b516359 CLINVAR:54824 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1dfbfd4-fe0e-43f4-9e0d-5df7f060ed3f CLINVAR:230548 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ac3e42e-cb73-47c7-a22c-3889490eb344 CLINVAR:230548 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0580c2a3-c162-4ff2-b9b9-cedab4fa6319 CLINVAR:230548 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ce65ff1-efd8-44bf-9393-4391f1e0cb37 CLINVAR:54823 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3094d920-f8e7-42d0-be6e-0e1e1f5dda9d CLINVAR:54823 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 980aef5c-bf6e-4965-8ec1-1f8fbdb160ef CLINVAR:54823 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4c3cfa3-9895-4c4b-8451-2d397014339c CLINVAR:233101 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 160814be-7e12-4071-b9c0-2dce32e17c33 CLINVAR:233101 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f5ccabd-49c7-4764-ad87-055459a0a2d7 CLINVAR:233101 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel acc47b25-1a72-45ef-998a-93a81fb49c51 CLINVAR:54822 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28aacddb-19cc-4f02-8d5c-2c99c57a15d7 CLINVAR:54822 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7e3652d-bf2e-4688-ab93-5ab24c8da62d CLINVAR:54822 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed6fe90b-daca-4ad0-b34d-9ee9820a26a0 CLINVAR:54821 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92a838be-2c3f-4604-aded-8485de11eb48 CLINVAR:54821 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 557d69e6-0e9c-4ebb-a3fe-e835293b9c0d CLINVAR:54821 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c391f41b-65dc-4201-8410-c7b9e8f197f0 CLINVAR:266346 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c584235d-d758-48e4-8443-6122a0ca79a2 CLINVAR:266346 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2cd0c4b5-b956-4458-a08b-7d5e39174af2 CLINVAR:266346 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b5ff2a6-2006-40eb-86ee-0c8da47abb91 CLINVAR:54819 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abe1b3a9-82b1-4cf7-b449-b25054dadcfd CLINVAR:54819 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fba31da7-781c-4c4a-a22f-e025eb5f555e CLINVAR:54819 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17a847eb-6da9-40b7-84c0-e0c284d2fa83 CLINVAR:54818 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b6af095-79d1-4aff-a965-456dafe445c9 CLINVAR:54818 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9b49a02-aed3-46a8-b50b-dc4d2abbd547 CLINVAR:54818 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3145dd29-2e0b-4cd8-81db-041aa1d2ae14 CLINVAR:54817 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b182fad7-3fdf-4207-b5ae-d84fcc174eee CLINVAR:54817 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28aac715-edf3-4b01-921f-ec4d88a1dcb3 CLINVAR:54817 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6059d007-d8d9-4458-9a77-a3164186ae87 CLINVAR:266351 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1efca8b-33b4-4d7d-b8c4-4eda8b8d69d0 CLINVAR:266351 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36383ddc-9484-41ff-89e6-6bec7f713b71 CLINVAR:266351 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42d7a34c-4f45-41de-b11d-57aafec06768 CLINVAR:254425 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e4ae4ae-988d-41f5-b7ee-2d5742bbeb13 CLINVAR:254425 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fa7495a-aa0d-408e-a1fd-9d61014cbae8 CLINVAR:254425 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfca755d-1274-448b-bc7a-3946fe1f6123 CLINVAR:54816 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee7f5c1e-c7e8-4f42-b8b3-f1ed537cc4b3 CLINVAR:54816 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73edad57-59d9-4ebc-9849-1c71118bd025 CLINVAR:54816 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28885e8c-040f-4a7e-9c0b-5edb59a16554 CLINVAR:266348 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69861a0b-6409-4c04-9334-68dc9ab214a8 CLINVAR:266348 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a826480-80c4-4889-9391-e52d63d30ab2 CLINVAR:266348 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0601fc3e-8a68-4124-8770-342f5a6f60fa CLINVAR:54815 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c615a11a-db9a-4afe-aace-8f0dd341e7ac CLINVAR:54815 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8273054c-ce08-4359-9f39-2b160e356381 CLINVAR:54815 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29b3fa1f-57d4-417a-b5e6-fe2435e64b6c CLINVAR:266349 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89bb8186-5629-443d-93a7-2bd1ab23440e CLINVAR:266349 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7de619f-552e-4753-80a3-bbf6873dad98 CLINVAR:266349 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e698526b-0c6a-4911-8381-ead7b5c5ee07 CLINVAR:266350 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d598a3f-f856-47b2-a105-1784006d479a CLINVAR:266350 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 571f5722-e0d9-4b6c-bae2-3bf3b648a30d CLINVAR:266350 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d988dcf-0132-42fa-804b-263cad11650f CLINVAR:54813 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b2197ad-b1b8-40a1-a60d-b22839393f68 CLINVAR:54813 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98d43800-3258-44f9-bbca-9d9c6c8c7e5a CLINVAR:54813 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c224b21-a395-45ce-a372-9c0671cb3a49 CLINVAR:266347 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2302b43-1959-459d-9db2-97ccb70780dc CLINVAR:266347 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08cf1683-13ac-4947-8868-b0e1a8091f5d CLINVAR:266347 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b1d0df2-bcfe-4e1c-8e2e-ae00449a1106 CLINVAR:54811 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55efbcc5-795a-448e-85bc-d406492d1004 CLINVAR:54811 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9102932-de4c-4d75-aed5-ecc07d3e172b CLINVAR:54811 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36104c67-480b-4903-8161-0901a9d31db9 CLINVAR:548173 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b38534fb-b9d7-4bc8-886a-3dc14c434c2a CLINVAR:548173 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af1864cc-7c1f-49fa-8f65-94a49d237740 CLINVAR:548173 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a50bc2b7-9cb3-4509-8723-483362d981ee CLINVAR:252873 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc46f8ed-8023-4720-abeb-aa8457723703 CLINVAR:252873 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3171df81-0d92-4fe8-8f1d-f57964f8f22f CLINVAR:252873 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b5a23d3-7ab4-4bc1-8efc-0a3141307f8b CLINVAR:125620 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9f34e98-b7b9-4b81-96f5-eadd26e10f60 CLINVAR:125620 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57c28d23-7af8-4bde-9ca1-90016950b26b CLINVAR:125620 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85391c85-f9d2-46bc-9c40-2321dee7df15 CLINVAR:54810 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 018fd863-008e-40cb-8c4a-48162de6d69c CLINVAR:54810 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31fba874-c6ca-4fe3-8901-d50d7d65ea8f CLINVAR:54810 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85e18f69-555e-479e-93a9-e0151afd26fc CLINVAR:54808 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2cf31705-b7f7-4f85-ba4c-7d14ce4e2937 CLINVAR:54808 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee1d9292-a887-4d92-be7b-8a88f9cf9432 CLINVAR:54808 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c411137-822f-40f6-97a6-5d5720f5aa57 CLINVAR:54807 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13b7e6b5-24de-4733-b01d-ea194da1c7b3 CLINVAR:54807 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61bfae9b-14ea-4811-9a34-d44f3a4c540b CLINVAR:54807 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33ecb8d7-966f-4ffb-a807-6da5a6317e19 CLINVAR:54806 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b67473b4-f972-4929-8250-e3dd09579ed0 CLINVAR:54806 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4264b79-ad61-43f7-9e18-b377e203c8eb CLINVAR:54806 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4775385-b28a-45c8-a70a-147bab5cd4b6 CLINVAR:54805 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4fdf2d5-6fe1-4f5f-980c-9f91ed3820a7 CLINVAR:54805 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 557d78e6-8af7-411a-887d-bad7b2497c07 CLINVAR:54805 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f661ccad-483e-4565-b801-c4bdb22af3f1 CLINVAR:431241 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c301066-e8bd-4aa5-b91c-ea72cde72316 CLINVAR:431241 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ced6611-de32-45b1-b285-1f4ca2d8f5d3 CLINVAR:431241 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38eb3404-e17e-4c46-8079-323f33b46ae3 CLINVAR:54804 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de208517-b5e5-4248-b1a5-3550f9a1536c CLINVAR:54804 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c3fddfe-cae5-47e6-a5a7-76020311811e CLINVAR:54804 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ccb3ce05-23ef-4dbb-a92f-e4240f478850 CLINVAR:37516 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 361487ae-e17e-488d-b35a-3983f4efbfe7 CLINVAR:37516 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3266661c-146c-486b-b61c-af0d8eaedbfa CLINVAR:37516 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 752b97a5-a252-416b-b4af-386b1731445b CLINVAR:54801 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27675cd3-7046-47b0-ada8-8d65745c2e9e CLINVAR:54801 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 736d368c-f514-4181-95cb-6e621b6d44f0 CLINVAR:54801 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7aed75bc-587d-4ffd-91db-6a719c7ca2aa CLINVAR:254424 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3fe24b3c-05ed-4d84-9fc2-f104064cd554 CLINVAR:254424 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6901bf24-3549-46ad-a121-5fbdc91f8dc4 CLINVAR:254424 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b360f34e-c925-4a1f-b914-21cda12d2df6 CLINVAR:266345 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39040ddf-c98d-4625-bfd7-8671abf27b57 CLINVAR:266345 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35fac936-af20-4b12-90d5-8810cf52b241 CLINVAR:266345 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e1c227f-50da-47ef-9f9f-2c381ea76421 CLINVAR:54798 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad21915e-bb47-4920-8f38-706dbef37455 CLINVAR:54798 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aed79441-766b-46bf-92cf-6b362f5e3bd8 CLINVAR:54798 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07a00f9a-d2a1-44d7-bb0c-00def49267f4 CLINVAR:266344 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar affcf951-ef0d-4f8a-9306-85e30db031bf CLINVAR:266344 biolink:is_sequence_variant_of NCBIGene:126862571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da3558c7-360b-4c34-a6f4-e9bd124af27f CLINVAR:266344 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 80cb39b2-7d60-49ad-a9d5-3452b8f08a66 CLINVAR:54797 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4e9c733-76f3-4fc6-8a82-d3099f20cb75 CLINVAR:54797 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ede065d-9552-4710-a9bb-d3b3d71e6586 CLINVAR:266343 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb358910-6817-4a7c-859c-a43fe42a0dee CLINVAR:266343 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb8c7c43-dde5-49e2-9fd1-94733bef6ff4 CLINVAR:266339 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef1d3852-8c42-4767-9adc-c42150ed517f CLINVAR:266339 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 927ab492-56cd-4545-b4bc-c5fd2955f518 CLINVAR:266341 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05856057-55ff-42a5-8103-653f07f39d48 CLINVAR:266341 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67da40b6-94b6-413b-8461-289d8c51a167 CLINVAR:266342 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67b111e1-5af3-4b83-a5d8-a2b248764fbd CLINVAR:266342 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ae979ab-3d6d-4ed2-af0f-f23f3fb0db4f CLINVAR:91607 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75531bd5-d8b9-4e55-80c2-2a63e4b3fbd7 CLINVAR:91607 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8e0594f-d27b-422c-b64f-350ff14665bf CLINVAR:548283 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d87a14c-f350-415c-bdd9-a105d0c58fad CLINVAR:548283 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 032579bc-15e6-4034-ac6d-742328687287 CLINVAR:441438 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4dfd7fa-9ef4-4cd3-94d4-eb5e0f8038c1 CLINVAR:441438 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 812a29d0-a356-499f-8290-ebd634a5bbc1 CLINVAR:54796 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9353c7f-39e7-428d-a03f-42597919be68 CLINVAR:54796 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 908df7bd-099e-4f9a-b301-428ff1c9fbd4 CLINVAR:54794 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed5a78fe-6f96-473f-88dd-95b1816c56e8 CLINVAR:54794 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9856456e-a54f-48a2-85cb-a522bc9b0680 CLINVAR:54793 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a37d67b-a3a6-4947-83c5-2c2bcf67b589 CLINVAR:54793 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24820453-a7c5-47ae-a5d4-11ceb1923a07 CLINVAR:266340 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1be1c215-2e05-41c8-8463-dbdc1abcb4ef CLINVAR:266340 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a2fbe66-7f22-4f13-accd-a9a640f4f6ea CLINVAR:54792 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1df18b95-4cb3-4d3e-b099-c86a0a159f87 CLINVAR:54792 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe617c8f-b1cc-4219-be32-71510fd2df76 CLINVAR:54789 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd561706-7356-4c37-a8e0-19b9cf9b18af CLINVAR:54789 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb5a1422-8ab1-4644-9ec5-3483807cce7c CLINVAR:37512 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 526a886b-c1ca-40f1-9ab4-551db44956e7 CLINVAR:37512 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bdb7dbc4-7c12-4fc0-94de-ff7e777d3564 CLINVAR:54788 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f331638-2ea3-4314-8fc9-7978ef1667ef CLINVAR:54788 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35ab933d-6d3b-45f0-a48c-685f2eb4bf6e CLINVAR:54786 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a1711ec-a350-4fd0-ac48-be9bd015f67f CLINVAR:54786 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 871f042d-3157-4e25-ae75-766403aaef48 CLINVAR:54785 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e43c4186-5004-4bdf-9f43-d7e2a3a9dd6e CLINVAR:54785 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 730fdd20-0321-4240-a614-cf846544c332 CLINVAR:125609 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70fe2dc9-2ae2-47f8-9121-17c613fb851e CLINVAR:125609 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b31519c0-e43a-40ef-892b-65fadd7dd423 CLINVAR:54784 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53d4bd82-d28f-4d9d-b364-4b8fd98378ac CLINVAR:54784 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57c44838-3d2f-436e-bdca-345fcc125716 CLINVAR:54783 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a6d1d39-ce85-44f0-967b-5fb32a5259bd CLINVAR:54783 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8eecb2a1-b125-4035-a7da-1c2b4da6426e CLINVAR:187251 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8cfa849-e289-4e32-b00d-757e579dd10b CLINVAR:187251 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6f26c01-b103-42d5-9aa9-a2a1b652c7b9 CLINVAR:54782 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2e75a96-738a-48b5-ae2e-93cd1adbc8e4 CLINVAR:54782 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c22cad9-14b2-4e4a-bd81-b15f7c94ed6a CLINVAR:54779 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f8a62ae-4fab-43ee-8e17-2a3715384db9 CLINVAR:54779 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f9c9827-63fd-4c59-9fbe-e6eeb24139f9 CLINVAR:266338 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa5325b2-0518-4e30-88a6-6bb072840c39 CLINVAR:266338 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6cae61f4-de10-4ebc-b8e9-3ddf837f438b CLINVAR:419901 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 291cfbe9-8fd7-43cb-b437-d6b5fff32e88 CLINVAR:419901 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f70facf-3302-458d-a464-2875242e2d1f CLINVAR:182111 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56368f9e-3e04-4f16-b54a-40b3e64889f3 CLINVAR:182111 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b446de25-d793-41f2-a6c0-806e08b31df1 CLINVAR:54774 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 024cf962-8f3e-40ac-a63a-82b637f491f7 CLINVAR:54774 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5fc4dbd8-6d22-4a48-b499-64e781c37a0c CLINVAR:252432 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d0a1c80-c5b3-4026-a53e-4e9f3ff46c38 CLINVAR:252432 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1f73f21-f913-4e44-8627-296bb74d7cad CLINVAR:54773 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59c0aa72-0af6-4243-9665-6f1916a752f8 CLINVAR:54773 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 49db12a7-b200-4565-b88b-6b0df2cb0642 CLINVAR:266337 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd785689-174e-4d89-b397-a74c8e7424ce CLINVAR:266337 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 052a59a2-a43c-4775-b169-0a0c83c80dde CLINVAR:125607 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2261820d-c448-4bad-b439-9809dd8a3013 CLINVAR:125607 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58c2cda8-6e32-4bb5-a0e9-bc752222111d CLINVAR:266336 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0b658e5-186e-4f38-a8ba-dcb4737a4f78 CLINVAR:266336 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 66a1ddec-f086-44c9-9860-51d130451d82 CLINVAR:54770 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71d670de-9dca-41a1-a2e1-46ac1d212530 CLINVAR:54770 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 152eb598-fd04-4392-9e0f-50163e10039c CLINVAR:37509 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7a8aed5-29f9-4a47-a951-7b4187f40733 CLINVAR:37509 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8ca98d6-aac9-4f7e-91b7-706a1db9fe2a CLINVAR:548193 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67cf47b8-66c0-407e-adb2-5f6ad2af7c2b CLINVAR:548193 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82473480-50ff-4652-9f08-ee4efad695f6 CLINVAR:266334 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bc37f34-6e4d-4c87-af31-3d7685cc51ef CLINVAR:266334 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c252048-23f6-4bc3-817f-03bc749b2ef8 CLINVAR:54772 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b24ae20-50ac-498e-9fbf-2945d5f160f2 CLINVAR:54772 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85baeb30-dae4-4ca8-b8b7-b13301efa21c CLINVAR:54771 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 279f4a7b-013e-4fe5-a0a5-d1e4f86237de CLINVAR:54771 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3274d24-6a75-48b3-a0b7-eb6d3409606a CLINVAR:266333 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10ba015d-40c2-498e-8ef9-b431fc3047f8 CLINVAR:266333 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c55ec821-e6b6-4efb-93fd-eccdccd8d399 CLINVAR:54769 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80275696-beb3-4996-aa7a-65e64b41732e CLINVAR:54769 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7c26ea5-0f0c-47d8-a7e3-b8047fcebf1d CLINVAR:54768 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12942939-f597-4b24-8bfb-1474cfb96efd CLINVAR:54768 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8dd31259-2d92-4ee7-9fc3-33ccba458eec CLINVAR:421801 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db86b3cc-f795-4550-bee0-6334ebb6bc6d CLINVAR:421801 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9deb4676-be17-46f0-b545-d4c77d2a7e7c CLINVAR:548316 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c68dd734-727f-4720-b72c-f99f7b28274d CLINVAR:548316 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9be16a44-a140-4e0b-b758-0b3c152053e5 CLINVAR:266332 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03af7292-4440-4a7f-8093-8f39d3bf2ab3 CLINVAR:266332 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 360e276b-0dfd-45e2-9d0a-86e7c8126e6d CLINVAR:431239 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68fc8e53-3057-4e85-ada0-cfd03ab1de4c CLINVAR:431239 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 19f28a31-3044-4b7e-913e-6974a790ad8a CLINVAR:431238 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7de5cd2d-b342-42dc-a84e-d817dc818f9b CLINVAR:431238 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 115a4ee9-ab55-4e2b-b2a9-60cabfa55092 CLINVAR:548264 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 662886d2-2423-4ea5-aff8-32a187dfc103 CLINVAR:548264 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b00b2c6-c21b-4ba2-ba86-fe2b00d79e4e CLINVAR:125603 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf952787-b7ea-4dcb-a41e-fecb4fbf8e25 CLINVAR:125603 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e79776e2-a00c-4df9-ac6f-ec287d47a8cd CLINVAR:54763 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8a36007-7cf9-4270-8904-0ce9501e8cfa CLINVAR:54763 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7217e31-d5f0-40cd-a18f-eb070a2ca4d9 CLINVAR:54764 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 949c649e-7d13-4685-85cd-4dcbf65f6e52 CLINVAR:54764 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41bddace-4a70-4ad9-b49d-970c177eb604 CLINVAR:125601 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83ddae16-e2c8-4627-b09f-215d3c710e0b CLINVAR:125601 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65edecbe-d5fb-4da8-ab55-b7f22cbe4e26 CLINVAR:37502 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8431424c-fef2-4f19-8e72-53e57c90d4ea CLINVAR:37502 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb2fd01c-04db-4dbb-99c1-f300f632c1a6 CLINVAR:54757 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e421fbe7-4387-44f1-9e09-3607e7451c39 CLINVAR:54757 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad564788-752a-4019-94c9-d6c188c0ba74 CLINVAR:54756 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 085eae8d-eba6-4578-ad59-a25474a13d70 CLINVAR:54756 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e091356c-83ad-4ff6-8e31-913bd119d36e CLINVAR:266330 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fdddf2e6-349c-49df-a70d-5f88c9149ea7 CLINVAR:266330 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4010b0f-73f9-42aa-a1f7-a63fabffc592 CLINVAR:266329 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 191572ec-9dd7-4937-bfe2-8c89e872427f CLINVAR:266329 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4607a35-113e-4306-a17c-f622d3bad955 CLINVAR:54749 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 771e3bf6-b1ce-4cdd-af91-7ba6235d6b08 CLINVAR:54749 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8553bd74-da4a-429b-af48-9b87e9ad63a8 CLINVAR:431237 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4862adf8-b505-4026-9212-1c8e3789bf58 CLINVAR:431237 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bae3c55b-5289-4a69-a4e9-9a23206418c6 CLINVAR:54754 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb51e78c-9408-4ca1-bcb1-29d17dcda6a3 CLINVAR:54754 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a30d2bba-84dc-4fcb-a138-c8ae7014f405 CLINVAR:254423 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd80bb01-c3e6-4080-9caf-5da751fdd48e CLINVAR:254423 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f7df4c4-cbdb-4382-957a-f5d4ff02859e CLINVAR:54748 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a02ebaf2-208e-4d0f-9998-130c57c8068b CLINVAR:54748 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fcf9c94-2623-4501-af98-7db37fe1ba00 CLINVAR:266328 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 186b2544-4586-4191-981a-c44ef35c1959 CLINVAR:266328 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34b9d295-3913-4de3-b07b-8517584c6a61 CLINVAR:54747 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65536821-0a10-4321-8178-4b03cb943a21 CLINVAR:54747 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0cd31699-4f33-4fe7-b4f4-1b8e0216f244 CLINVAR:266327 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f6cd5e2-ef7d-4789-8d2c-d79196a6bf2c CLINVAR:266327 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53a61b53-c907-4d9c-ad99-fa0f03329d22 CLINVAR:17669 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b594f3f-9d79-4d0c-a923-b59fde832289 CLINVAR:17669 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14a4d65c-ffd7-45b3-a469-6c2f86279d15 CLINVAR:254422 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0757aa2c-76ff-4c93-80cf-632071b1b8d4 CLINVAR:254422 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ed86b81-ca5d-4260-a3d0-28cea7e73f3b CLINVAR:54744 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c054f7f-750d-4118-bf31-628d9e646d20 CLINVAR:54744 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d14e2663-8316-4e9f-afc5-bc263ce1b344 CLINVAR:125597 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c1d5598-6375-4b81-8651-1ce13eaf93d2 CLINVAR:125597 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 758089db-0f9c-407b-a911-fbe3273caf07 CLINVAR:54738 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 630cd74d-fda7-4959-8457-22922a96ac57 CLINVAR:54738 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b1ab0d4-4802-44c4-8325-4bf206f428f6 CLINVAR:54739 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1defdb0e-3f19-467f-946c-45b8b226d1e5 CLINVAR:54739 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a060bc7d-1877-4868-964a-f667e3d805e6 CLINVAR:54736 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4af4d854-cd22-4ef1-8177-fb3078df18a4 CLINVAR:54736 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2ee2af2-01bd-4659-9a55-425b23289a56 CLINVAR:252431 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2485e72a-f01a-4125-b9e2-b5fae7824e2a CLINVAR:252431 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6223208e-46f5-47fb-9ae6-22306b486a8c CLINVAR:37495 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7bcbcb3a-d657-4eea-b6f2-d6b8769a38c0 CLINVAR:37495 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82dae763-d332-4f61-9d72-730e45fc25c6 CLINVAR:266326 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cefb1714-7b24-4630-938d-273ae4f39c8e CLINVAR:266326 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d30341a-41d3-4ccf-a92b-1cf23a7de5bf CLINVAR:54737 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c069918-efa1-4923-97d6-79bd7095d0e0 CLINVAR:54737 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 642f59d1-396e-4149-8493-a8ce44be75e0 CLINVAR:54735 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3930427a-41d2-49d1-904f-636ccaae7941 CLINVAR:54735 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34fc62bb-bc70-4def-acf1-0787e48905eb CLINVAR:266325 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14788b37-f739-442d-8811-b417d3939b77 CLINVAR:266325 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f323388-f0fd-46b6-9537-b41baf652c65 CLINVAR:266324 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f16fbcf-04f3-4e72-aeba-425dc75c0832 CLINVAR:266324 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56d42c2d-9239-40ea-b807-643ccfad324d CLINVAR:54733 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f86c3c4f-2a99-48a7-af85-dcf13f8861be CLINVAR:54733 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 791b9921-a35e-4eb9-8ba2-ee0017439212 CLINVAR:441377 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3aefff86-f2cf-4a06-804e-c719813a7239 CLINVAR:441377 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c42b3a00-5534-4b5e-85fa-1a659ed9fb4f CLINVAR:54732 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f12cc71-243f-47ac-8391-4dd47926edec CLINVAR:54732 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87264798-0248-4592-b975-d30d30816935 CLINVAR:266323 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eab4d254-9e0b-43b1-8c47-35eb5d22700c CLINVAR:266323 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c122cf9-effe-4300-bf2e-33035e9029ef CLINVAR:266322 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a526f40c-cbd6-49b1-864f-6da768e892d7 CLINVAR:266322 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0d7e533-87fc-4e66-abf7-8bd6d3557296 CLINVAR:54731 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad3f009b-5c6e-47ca-8bd1-10f6c002cc18 CLINVAR:54731 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3bbb5ac-9c6f-4abd-872d-0b8079df8d86 CLINVAR:54730 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de4804a9-653e-46c3-9f05-5df5dcf16912 CLINVAR:54730 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b878a79d-b275-4468-b15e-aa2e3b1b0824 CLINVAR:54729 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e0ec764-d846-453e-a389-fd94b26af0d3 CLINVAR:54729 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c39c7cd7-b562-4d28-9805-6662d5422ebc CLINVAR:266321 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8b83853-4dfc-4667-a55e-0f61707d7971 CLINVAR:266321 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d3fbfba-f1b9-4fb0-a6ad-8e99a05fc0c3 CLINVAR:231349 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7498367f-d76e-4b30-ad29-ceaa0a76410c CLINVAR:231349 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06d14094-90b9-48b3-8f42-2fd176b2a9e6 CLINVAR:182109 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7904f63c-130c-4655-8e0b-eddf744caea6 CLINVAR:182109 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f91640b4-0459-47ca-a92c-a58a5a270181 CLINVAR:91603 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6a107c6-d952-42cf-8521-c34035f95e49 CLINVAR:91603 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb462253-d82e-4aef-a96d-544eb84340cf CLINVAR:182073 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad0096f3-2e95-4eef-a38e-7327e0026ee8 CLINVAR:182073 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e83c381-5819-45d0-a8fd-0c466d05a809 CLINVAR:54726 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fbb3984-1d25-40f9-9163-8b4685ffd364 CLINVAR:54726 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bafde127-7336-43f0-8309-9115172bec25 CLINVAR:236270 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0dbf1c7-bada-4e26-b410-2cfdb02e2b65 CLINVAR:236270 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05733f2e-7662-4d55-996d-79c4498c4593 CLINVAR:37493 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 505ad3c4-1ffc-4d79-a63e-86ef9f6bf115 CLINVAR:37493 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e28ba1ac-19b0-4fc7-8a39-4da7253f2fb8 CLINVAR:431234 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f01ee71a-2dae-45a4-89a3-300363bdf69b CLINVAR:431234 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2194c9b-fa76-43c7-a65a-f33eed579402 CLINVAR:54723 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ded5b09d-d013-4057-a0ee-2bf3247a62b9 CLINVAR:54723 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4a46677-72a3-43e5-b590-60840ecad179 CLINVAR:254421 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 062ad094-d128-4210-ae38-b61a0dfb7d34 CLINVAR:254421 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55699bfd-3240-41ac-acaa-313f611bb439 CLINVAR:54722 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8aa00f2-7d90-4ac3-b7b9-45c97f6e3d83 CLINVAR:54722 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 517a348d-cc43-4372-b26a-9765e264a361 CLINVAR:54721 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6613b8df-1bec-476d-9f2c-bd88c80b933a CLINVAR:54721 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe809efd-883b-41f6-bca1-5b948664b95c CLINVAR:54718 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d302293-30ca-4d7d-b61b-c02c9737b4da CLINVAR:54718 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2119dfa9-b435-4f92-95f9-e371b3076ff5 CLINVAR:54719 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8b4661e-26ab-4937-85a4-221710740cf4 CLINVAR:54719 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8dcc33aa-2b45-47fa-97c7-484bf1993943 CLINVAR:266320 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1d71db7-0b45-41a6-a9ca-163eb2ddfdf2 CLINVAR:266320 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25b6c4b1-5484-42c8-860b-35365d760e2a CLINVAR:54716 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 199af22c-54d1-4516-9fe6-7ca66f34cdad CLINVAR:54716 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57b7267c-2ddc-4c23-97db-7671c0a4827b CLINVAR:54715 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57b0dca8-b16e-4e3a-959e-edf866518400 CLINVAR:54715 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3abd9c12-0462-468a-a4c3-ad06b03ed520 CLINVAR:240783 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ccba3db2-5a8e-4f7a-becc-0f4a2de0b896 CLINVAR:240783 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9f1f581-218e-49b3-a8d9-5eba2c648cbb CLINVAR:54713 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbd51325-2e6b-44bc-9d01-f18c0a3a3596 CLINVAR:54713 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f19bdfdf-3807-4cb6-9900-6f0d7bdaac37 CLINVAR:266318 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d3b48f8-2b05-4d48-8d7f-e490ca43413c CLINVAR:266318 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 563ff018-a74e-4ba3-94a0-885326108f98 CLINVAR:266319 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f7bc408-1439-4222-99c8-d55a2c263a21 CLINVAR:266319 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d96bd557-6ded-46b5-8997-1708df3e4177 CLINVAR:548247 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 841b6808-a9a2-4ac1-884f-b6ea532f51bb CLINVAR:548247 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b4bdb10-833b-45c4-ace3-04eeb05be101 CLINVAR:548203 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc7811c1-5230-442d-b606-cea8374fb4bc CLINVAR:548203 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a30c78e3-253f-48fe-b5e3-8a6aae3dff8f CLINVAR:266317 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3aa06fb8-f539-4b9d-b007-964d87ce131b CLINVAR:266317 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5af0b18c-76e0-4196-bb83-98c2815c64b9 CLINVAR:91602 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95164e5b-7193-4dcb-b946-0fd9314eceb7 CLINVAR:91602 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 621dd811-7ca2-43fb-81b0-1a143adf3cbd CLINVAR:254420 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02b13be3-dc3b-4672-a495-dd6a3857a504 CLINVAR:254420 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5605dbf3-f367-48b9-82ae-7982e2c2e0e8 CLINVAR:125595 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a08a5a57-ee79-4cfa-9718-4f5ba81e1336 CLINVAR:125595 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79317c8e-a1a6-4944-9960-a6eb7ebf02e2 CLINVAR:266316 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6527b8c2-1512-4f30-bca0-06f335ae00a0 CLINVAR:266316 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d969b7d1-4ad5-4818-b27f-f0c77b2b817a CLINVAR:54710 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73cdc87a-ba88-46bd-aee7-0760dcdf9752 CLINVAR:54710 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d8523a6-79c6-4716-ad9d-d543d496aa86 CLINVAR:266315 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 657b9a8c-da87-4846-a469-e0cdbd81de22 CLINVAR:266315 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92fc15e0-0bac-481c-b96a-384c50b5fffb CLINVAR:266314 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e643fe12-7d0a-4966-b8ce-da22a36b6100 CLINVAR:266314 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2843852a-4836-48dc-95ab-003610c8738d CLINVAR:54707 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d73103b1-1d11-4a07-b166-bf94614c308e CLINVAR:54707 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5385dcc-6798-42bd-9d20-d07f279d2646 CLINVAR:266313 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41fc1d69-453c-4d58-a33f-c0f0c6dbc23d CLINVAR:266313 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a84efa71-a540-418b-8a5e-d60690245b7c CLINVAR:548231 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b84036c0-eaa2-45d9-a52b-b5c30d117e48 CLINVAR:548231 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7277d967-1a35-4bb4-94fa-39c6e905f769 CLINVAR:125594 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d569753d-9ccf-4331-8f7d-3438ef5afc3c CLINVAR:125594 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bdd9ea8f-e38e-4944-9f20-584ba119a4bc CLINVAR:54705 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d33259d4-d981-4f4a-9832-aa552af2e068 CLINVAR:54705 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0617ad50-55c7-4745-8e24-ec5fadaab569 CLINVAR:54702 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78c5cadc-3e3a-4772-9588-d3f546557117 CLINVAR:54702 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54979bc2-cebb-4b2b-8899-e8e7fbc9472d CLINVAR:54703 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 490b5deb-41c3-4c37-b463-04e335130a6b CLINVAR:54703 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a3e8cded-0edc-479f-8ea3-b7918ae7e922 CLINVAR:125593 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84f11d99-645e-41b9-a8c7-afb6c33e7f7f CLINVAR:125593 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb694a77-21c2-41f2-8416-abdff2d73015 CLINVAR:548249 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09af7e26-d0be-42bb-b2ab-147e44b6b308 CLINVAR:548249 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00263461-4829-4559-8f75-563269fe38de CLINVAR:266310 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 281d8c6f-4a93-45b0-ab4b-647202904334 CLINVAR:266310 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f588a08a-0b82-4fb5-8deb-a77378e118c8 CLINVAR:266312 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 482f0bb1-6b59-42bb-83e1-1b57b4bce20e CLINVAR:266312 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5015e136-5936-4443-b08f-907d53acc502 CLINVAR:54701 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9d379cb-9bbc-4c15-9651-85443436aa07 CLINVAR:54701 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 010d8cd9-454a-4964-b215-6f9bf4f4fd8e CLINVAR:266311 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac60f081-5e64-4112-aa55-934309e44ac1 CLINVAR:266311 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81d0ca8e-588a-4bdb-bb4f-27c5f84a349f CLINVAR:54700 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a5868d7-f963-4a1b-8c80-b116fa227982 CLINVAR:54700 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0aa28bd-5605-4cc9-b65a-39243ea86739 CLINVAR:54698 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e8f5147-cb0e-4456-9d4b-f52e48739341 CLINVAR:54698 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 149bdf84-777d-41eb-b103-244efeee24a7 CLINVAR:548166 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c008491-890a-4a95-8ce6-e8dea516038e CLINVAR:548166 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7488e84b-b663-45f0-bea5-47bab02c7316 CLINVAR:266309 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b59c50f4-637b-40a5-9630-bc2422aecaa8 CLINVAR:266309 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6cc37a85-4828-4365-a037-befc9110154a CLINVAR:266308 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3e21f34-519a-415f-8ee7-c43d834e29e1 CLINVAR:266308 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f3b8d2f-4d19-428d-aba0-f3e49f622751 CLINVAR:54699 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8ce70f2-e6ec-4cde-890d-05388c4aa211 CLINVAR:54699 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b015911a-7946-4042-9e79-c42c798a2c8d CLINVAR:266307 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3843763b-857d-4f69-b48d-6ed75d2fd419 CLINVAR:266307 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 651b758a-ddce-4e08-bc6d-16a33df84683 CLINVAR:54697 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b3fc290-e592-45c8-91ad-0f8cae345212 CLINVAR:54697 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 487ec347-ab57-459c-a8cb-c9a0a5982e6f CLINVAR:54696 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3e791d2-b056-4925-b3bf-6f4e4f2ab600 CLINVAR:54696 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbc4d580-9ccf-42e9-9e08-f9668253a3ba CLINVAR:54695 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58175ecd-9d5a-4b3e-bdf2-ce1012fbdc01 CLINVAR:54695 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85384994-358e-4f43-bf8b-85585281e7e0 CLINVAR:54694 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f553bb0-b098-4273-bbe3-c7dadd6aa17a CLINVAR:54694 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fdce8bad-062e-470b-8222-1446fb2ee65d CLINVAR:54692 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f7409f6-18b8-462a-b44e-c2f1ed6319b2 CLINVAR:54692 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ea44074d-6951-47de-871f-12a308c0ef79 CLINVAR:54691 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87a9d95e-7fb5-4427-96b4-863d840c949d CLINVAR:54691 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8709a123-0b0d-42a4-b431-c0241299ebac CLINVAR:54690 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b5dfa2f-2bc9-4c13-b73e-8ede96be53ca CLINVAR:54690 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 95081ad8-cec1-43cc-8dc6-20dcb6fdae07 CLINVAR:266306 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d27735c-4335-4c25-91c3-152380c343c4 CLINVAR:266306 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f5e5304-90cf-47f5-88c3-e5204a993723 CLINVAR:266305 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de93c525-32e0-450c-81a7-81375e5e3d8b CLINVAR:266305 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6aa71147-453a-4fb6-aec4-7476a14147c5 CLINVAR:54686 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04b0fffc-8ee1-447f-ac7d-67c0dc0842b8 CLINVAR:54686 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2cc0429-bf14-4d82-82c0-955e002b8e6d CLINVAR:54687 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4e3c2aa-2096-4123-81a2-30250190f701 CLINVAR:54687 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29ef95b5-dc6d-478c-b212-97a594f3ac2b CLINVAR:54685 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0251abed-e446-4934-bb2d-6d3da7eb13c8 CLINVAR:54685 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac84e467-2378-4056-9c91-d1242b66ad43 CLINVAR:37491 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 409d6f7a-18c4-489b-953c-f82bbf797b6f CLINVAR:37491 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 40ae39cc-0f17-447e-8550-0dbba226d01e CLINVAR:438921 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec2f2350-7716-4fb8-879c-6d9a61ed8f2f CLINVAR:438921 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb2aa121-6a8e-4ec5-abc9-f788feb9eff4 CLINVAR:254419 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57b4151c-b91c-4dda-a0e1-703f27a390ae CLINVAR:254419 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d95660d5-cf90-4adb-9575-e1b58dd948a2 CLINVAR:236269 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d227be0c-a773-46cf-a3b9-5d12f86315d3 CLINVAR:236269 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 000c47a3-e84c-4120-acb1-7d440b2da39e CLINVAR:54684 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5faf62f-23f6-4e85-92a7-203677b8624a CLINVAR:54684 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3455b9f6-1996-4306-809f-21e829252219 CLINVAR:54683 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d164efa-7bab-4d44-9057-d35b371a4b42 CLINVAR:54683 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5adeba9d-018b-4329-8683-60a2cb930316 CLINVAR:125590 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23a8d3e9-c190-4422-beea-ca91e043d337 CLINVAR:125590 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9845005a-a9d8-4b57-82bc-3f562911d250 CLINVAR:54682 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e233410-33cb-4021-bad2-7dd2c60583a7 CLINVAR:54682 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db4353fe-3df0-460a-afe5-38dffc6a21a1 CLINVAR:54681 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 942c2012-232c-4efe-b6bb-8aac7ba6e90f CLINVAR:54681 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4a8618a-5e42-4926-98d4-d55d5b04d986 CLINVAR:441384 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 354f2146-5352-4cad-8f36-9722d9cc330b CLINVAR:441384 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2fa1768f-7d3d-4d2a-a177-ec60c8809480 CLINVAR:548241 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4af8437-f9a7-4f69-90e4-6c191a23857a CLINVAR:548241 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel edb9faf4-53ba-48d6-9d74-11d60b0851bc CLINVAR:266304 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a7e216e-c2d6-411e-ac59-8d70f6881f2b CLINVAR:266304 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4b9d654-d873-4912-93ef-1708a5020e39 CLINVAR:422164 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2109f173-50ec-4c03-b792-c4ceda317780 CLINVAR:422164 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2f736a5-b81e-4247-85d6-c3527ee29c35 CLINVAR:266303 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 898a0fb2-3096-4736-9111-8296448d3569 CLINVAR:266303 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bd25f0b-334d-494e-9142-cd754fac7e79 CLINVAR:548208 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4960bf0e-d32b-4faa-9359-dce82e2d7a46 CLINVAR:548208 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7277264-10da-4560-bf3b-fbcff7db0541 CLINVAR:266301 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11e6de28-60ac-41f6-94e5-2c5f643ee383 CLINVAR:266301 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13161abd-c42f-4b9b-a481-e53e99441f4f CLINVAR:266302 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13ba7591-4208-467e-8a0e-c6587d042755 CLINVAR:266302 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fafba382-f9bd-436b-adea-a79b4c0b35fd CLINVAR:91601 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f637bb28-0cac-41b0-b734-3c966feb87e0 CLINVAR:91601 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d93cbaca-85d6-40b3-8ed3-24349bd8976d CLINVAR:54678 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0793d919-5ca9-4035-9a53-d6d578db4858 CLINVAR:54678 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de548591-5a12-44e9-94bb-5e5b1a2d0ad5 CLINVAR:54675 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4505da0d-396b-4dd8-b3fd-aeeb58a06f13 CLINVAR:54675 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bb7f52a-1917-4213-b81c-dcf7785e11b1 CLINVAR:54677 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45115ce5-6818-460f-a3a4-33b69fc46e01 CLINVAR:54677 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e78a12cc-7b6f-45f2-81a1-e19909bd5358 CLINVAR:54674 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f22d0bb0-1045-4fd3-8ab4-35b92d4c7f84 CLINVAR:54674 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86f12c6b-979b-4c4f-842f-82021d0e8e3d CLINVAR:54673 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0cf8bd68-9ed6-4e4a-b6da-f7bbf4b2a2b9 CLINVAR:54673 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5678d4a0-694c-4bd4-986b-0c9c41c5f44c CLINVAR:422417 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdc04a3d-ba7e-4ff0-b6e6-35788c04a942 CLINVAR:422417 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab8700d6-1f39-4e18-904c-17e8eec37df8 CLINVAR:548274 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bdbf3ff5-51f7-4afc-88da-a854323b58ca CLINVAR:548274 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b3823c7-993f-4fea-9702-cc2e18ddd0a9 CLINVAR:266300 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fdfd908-6a62-4df4-9f43-57ebc5c73917 CLINVAR:266300 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76b28a95-b421-4f3f-9ef1-c1274c33a085 CLINVAR:266299 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c79b8ce-e3b6-4ad8-9d61-e8ecfb692fe2 CLINVAR:266299 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77a17e1f-29c4-468b-998b-9d76e4c73950 CLINVAR:266298 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a60b04a-f4ca-4097-8e1d-eb165482aae0 CLINVAR:266298 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8bd1f00-fb94-4d71-9a93-058f563c2a1d CLINVAR:54670 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8aeb4479-136e-4968-9263-cb45ce835251 CLINVAR:54670 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06a14267-4f56-4a22-b23a-e6f4450d81ed CLINVAR:91599 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60b73127-54a8-4f4d-ae53-eaba52b296c9 CLINVAR:91599 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e874dea-0c72-43a7-b999-baf058a6a893 CLINVAR:54669 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d16a887-a29c-419e-b733-3594ca1b6c01 CLINVAR:54669 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07428452-8911-4de0-83d6-4a3ef8965f52 CLINVAR:54668 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea61f670-768b-41de-9cdb-c10bf9e38dd4 CLINVAR:54668 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b06f299-f54e-41cd-90c1-400b85a19e05 CLINVAR:54667 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2145fc6d-5a66-4cb0-b9e9-d7c2d4847f89 CLINVAR:54667 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfa97eb0-b819-4b9b-832b-71e55334dc8b CLINVAR:54661 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e55cca60-371b-462a-ad8a-7f28703dd468 CLINVAR:54661 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d41cbb0e-238a-4ab6-ab90-b0522686e351 CLINVAR:54658 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 087b68b3-14a9-4a39-ab04-14d3753deffe CLINVAR:54658 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2fc60cf8-9460-4629-9dd2-052f1be7fa66 CLINVAR:54663 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b98c9c01-6d7e-4860-a043-0cf8583237e3 CLINVAR:54663 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e215e5f8-7dfa-4dcd-81fb-ad7443b02881 CLINVAR:54662 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 368f128f-5cc5-4bed-990b-d4549a888f4a CLINVAR:54662 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd2dc9d0-09ea-4102-9892-1014f6c24a86 CLINVAR:54660 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7ba733b-6cf7-48ec-b9b7-f9349f883a08 CLINVAR:54660 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d4c61fb-d817-4054-bee3-2acc76591657 CLINVAR:54659 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9735ac2-b0cc-4307-9ba7-d867980f0bf1 CLINVAR:54659 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 492e6033-9e54-4a9f-8ff3-2a53ae91ec40 CLINVAR:54656 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a82c586d-968a-42e6-9b82-d17e6652e142 CLINVAR:54656 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93ffdeb4-35b5-4631-9b63-c560032c86a9 CLINVAR:54657 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b78e2ca-6864-4d21-907d-6bd15695bed9 CLINVAR:54657 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 905e8e81-36c1-4354-9d1c-e58c1b2c3a5c CLINVAR:252870 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fd76e67-7e60-4e2d-abc0-ce31c5e62202 CLINVAR:252870 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c516fbef-c2bd-475f-9040-59e01e0304fe CLINVAR:230485 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 164f82f0-a175-4f48-be54-cd6ccdcca548 CLINVAR:230485 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b384febb-14ea-4afc-b6e1-a16a9bba98b0 CLINVAR:231289 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c23953f8-f3a9-4480-bfe2-6b9a3d1441f8 CLINVAR:231289 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7b8b987-955d-4f08-ad92-19aefc033adf CLINVAR:54655 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5c1c85a-d484-4d0a-ba2c-d1d219f2463b CLINVAR:54655 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03758d76-5fcd-4e02-9157-51bf3b23c68e CLINVAR:266297 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6d6d200-124f-4fc4-8789-4d308dae0017 CLINVAR:266297 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27d5b98a-ad2a-48a5-914b-99cfe4f77e35 CLINVAR:266296 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 567ac6e1-2bdc-4920-adb9-df5b982f7d8b CLINVAR:266296 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1120eec-50e7-45c8-9ac6-bfb0f3f537ef CLINVAR:37484 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e585638d-eead-42cf-81cd-9567965b083f CLINVAR:37484 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a845b71e-6f75-4f9e-bc5c-cc059560aa88 CLINVAR:54654 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 535dc03a-4e77-4f02-bc8d-51f8f6d6870e CLINVAR:54654 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38dcad9e-263e-4ab4-b54f-dca72242a522 CLINVAR:37483 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b57a568-24aa-4d77-b11a-16643b106fe4 CLINVAR:37483 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8538bbab-d702-41f1-be4f-a03f31c9a982 CLINVAR:421037 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35ef7e30-0aea-4e85-a9ff-e761ce0cfee5 CLINVAR:421037 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0944ad4-fac0-4b48-a56c-4c98bb90e122 CLINVAR:266295 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16988575-6150-4a81-be3b-df827462bf29 CLINVAR:266295 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a6a2627-fd7c-404b-b406-caf1f99dd425 CLINVAR:54653 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f29ec84e-3bc3-4595-80e8-500feb6421ef CLINVAR:54653 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c7de371-3a90-4ba5-9f6b-202fdbfdbb3c CLINVAR:54650 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbf58cfa-c3a3-446e-a1c7-91035968d553 CLINVAR:54650 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4bef36a-ac48-4022-9d79-8700360337fd CLINVAR:245696 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fcd00e6-4e29-4bbd-acb4-358ac86c58e0 CLINVAR:245696 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a9f35a0-6ea9-43de-a463-610a1c800764 CLINVAR:266294 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5892b042-e43c-4ea6-a4e0-d500e9fe1a0b CLINVAR:266294 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6b2978a-fe5b-4683-9ed8-2ddac9d797e7 CLINVAR:266293 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b838272b-e0bb-47fc-9b34-88496b250a1c CLINVAR:266293 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3d7c2f0-5918-4f78-944e-9c434077bc38 CLINVAR:266292 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bb1ac82-d047-4084-b99f-06842e5adc62 CLINVAR:266292 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12aa1659-5044-4b73-88c7-06df0c5f9816 CLINVAR:548268 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61ff761e-8a1a-4ec3-bb7c-449f094e67b1 CLINVAR:548268 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d019a34-a3b8-4895-8213-0179304d19cf CLINVAR:254418 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bd3361e-3ed6-43c3-a80d-23b01c470cbd CLINVAR:254418 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04b457c8-6a4d-4774-9a86-5bb38b64010b CLINVAR:548253 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 069c7d81-3ecf-4171-adcc-5e53cfa1f867 CLINVAR:548253 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6fb5e7ff-24fc-41ea-a135-887b7e006011 CLINVAR:91596 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 267fbe53-886d-47d1-b603-883b36cf5ac8 CLINVAR:91596 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b77c955b-b42e-42f2-b29b-c8898c671894 CLINVAR:125581 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b783a49-c6d1-4667-8f9e-597668cd25b1 CLINVAR:125581 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a38f4b8-b900-4a60-aada-70d7ae4909fb CLINVAR:54646 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d7dd5ef-4074-4b23-b407-80e92fd62393 CLINVAR:54646 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4fa2e05-8694-4d02-85a8-be9dcdd0e574 CLINVAR:54645 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5d52105-a58d-4277-b36b-fddf9f693e77 CLINVAR:54645 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0790dacf-9e50-413d-adf3-e9026db2e0ed CLINVAR:54644 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7b25490-513a-48fb-84f6-c57ae877aeda CLINVAR:54644 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56de67c9-230e-466b-812f-11702f66367d CLINVAR:54643 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62153f2d-3b22-492d-9293-5e67f422d156 CLINVAR:54643 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22d640ac-17dc-408a-a471-cf8b4fb8ca65 CLINVAR:17667 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4d0795a-04e3-4991-982b-8cc9e00084b1 CLINVAR:17667 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c282ae88-b375-41e7-9da6-de52083bf091 CLINVAR:37481 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86ee15b5-4a9e-4edf-9057-42d4e289fe3b CLINVAR:37481 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f87bef4e-60fa-428c-93c7-64b3e58e9008 CLINVAR:54641 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 325df392-2e16-44bd-a03b-60a443f8e87c CLINVAR:54641 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c431e08-0715-4316-9852-cfabc874aa9a CLINVAR:231951 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c821b32-7aa3-46ae-9c39-1d083417606d CLINVAR:231951 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d41b9b4-c28d-4efe-a28f-846b4750bb37 CLINVAR:266291 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53004681-d893-45c7-a26e-e859ab879373 CLINVAR:266291 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b7ca2ae-d811-40d6-a467-f109758590ef CLINVAR:54639 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfa494fe-6943-4b13-bd62-d7ac6b9c453d CLINVAR:54639 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78a140d4-b2e7-4f5c-b6b5-a655cb32b77a CLINVAR:37480 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00170b14-3e27-4211-82fa-fef3be09bfff CLINVAR:37480 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 639e79da-5c67-46ef-8146-d7b49da9dbe4 CLINVAR:266290 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7cc3733-ee1c-4e44-85b6-d281c9424d7e CLINVAR:266290 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3da8883f-4cc3-42e5-91b1-dbafb33fde17 CLINVAR:54637 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45f446c2-6473-4a4e-9ae9-8d64f55efdb3 CLINVAR:54637 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9221e6dc-d6cf-46c7-a5a9-a5930d5e993a CLINVAR:54636 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74c2ad1a-0dbe-4095-a854-9e113e0475db CLINVAR:54636 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5489ce81-5fe2-40fa-8caa-71c42300b7cb CLINVAR:233462 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e73900fe-665a-4f49-a1d8-c0ac028b25c2 CLINVAR:233462 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60c9e786-c65f-439e-835d-7ae38ed97c4c CLINVAR:54633 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf6ceeec-019a-4642-a3cd-187c683c32f6 CLINVAR:54633 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3d8a923-ea5e-4cf2-9110-9391bede91c5 CLINVAR:548216 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a856062-1a62-408c-a846-ca32ba869046 CLINVAR:548216 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07068bf9-e052-437c-9edb-41b85fb3c1f5 CLINVAR:54631 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d108cbd1-87ed-42e3-a78e-5f5eef3ba6be CLINVAR:54631 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25e09abe-2319-4347-9f5e-c2e43dc7209e CLINVAR:54630 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45a5c428-6acd-4640-898c-882d30d52e4d CLINVAR:54630 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 476506db-a8be-4ec4-ba42-83b6fed315ba CLINVAR:125579 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca6fbade-ab97-4e07-9e73-7431c5e1be01 CLINVAR:125579 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 786979d5-ff05-44c6-976d-824baed08ffc CLINVAR:54629 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b34012c-8521-4323-a231-d673b0339019 CLINVAR:54629 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08ad68ae-e435-48e9-813f-32b0a1cbd345 CLINVAR:187257 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98b19079-15bd-4d08-918c-74d53b037855 CLINVAR:187257 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 702e8321-6239-4768-923a-347249bc23b2 CLINVAR:91595 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67f74670-e91f-4d1c-b522-f1cd2cb57d18 CLINVAR:91595 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 731ad488-534b-40ea-b7bc-4a5cc22e7d8c CLINVAR:266289 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb31c948-bc29-4ae1-9e59-ca65e6300df6 CLINVAR:266289 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ddca8da-e6af-4f54-b1fe-c8d04c8297dd CLINVAR:548262 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fd82292-3b9b-4d19-9c8b-9ced640dd717 CLINVAR:548262 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a95981f-7df6-40b5-a4e4-783843cbf46c CLINVAR:266288 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df386d70-9856-4750-9b49-89e431545cfa CLINVAR:266288 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1630a501-2cfb-4359-bb80-1e60c3f35136 CLINVAR:254417 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8da5c28a-b922-43e2-8dd4-0a305813d4d2 CLINVAR:254417 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f02a12c0-a454-444e-af7c-d154846f5fcb CLINVAR:266287 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bf437ff-a585-4064-bfa7-c491359c91c1 CLINVAR:266287 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3cddc356-6a86-4877-9622-67b1ff37bc2b CLINVAR:54627 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 539f8a6d-9e2c-4fbd-a73c-d9b024403079 CLINVAR:54627 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b00fd0c-dfa4-40e7-b6dc-2b674b62724a CLINVAR:548234 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d342c14-d584-4185-b91f-5f7cf5799b97 CLINVAR:548234 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0562b6d-6788-43e6-a92e-14131a14a116 CLINVAR:54626 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bc988cc-7f5f-4b64-b606-72082e0791fd CLINVAR:54626 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42b3ffe5-06c3-4cd3-a786-e2825cbb858a CLINVAR:54625 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb4db4db-f8dd-40f3-adc8-76d02ef580b4 CLINVAR:54625 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb7e50d0-97fa-4eba-a86d-cd81f94bd87b CLINVAR:266286 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff043b9d-d8d6-46eb-83d6-e8de0c20e100 CLINVAR:266286 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27ecc9af-601e-4aac-907f-4cabd4db8736 CLINVAR:37478 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8c00311-5dae-4dcb-ac3c-9bb4918195e1 CLINVAR:37478 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ae2084d-3bf6-4e53-87cb-e9f2c60685ad CLINVAR:254416 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68102501-e6aa-43b9-a3b3-73265abeb7cf CLINVAR:254416 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14d4c2d8-8902-484e-b5a8-815698cf3353 CLINVAR:140993 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4926607-8526-403d-9a5c-56194a7742e5 CLINVAR:140993 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c54935bd-6af2-4684-af02-4319613662c0 CLINVAR:54622 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32e75e6c-ecc9-41e1-b4a5-a10afc8912cd CLINVAR:54622 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 19a35bce-ed09-46b8-8044-57bb8381494a CLINVAR:266285 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2dc0fabe-a314-4be7-8a86-c097bb23e9a2 CLINVAR:266285 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43517dcb-2ddf-4cbc-9283-f955d93a2ecf CLINVAR:54619 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c3650ac-d3d9-47c9-8670-b06dcd66a556 CLINVAR:54619 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1a208c5-5487-4039-87d3-bed88edc6e36 CLINVAR:54621 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c71563d-9b3f-4b39-938b-a9db70c6d883 CLINVAR:54621 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a28f2a7e-4235-442d-b629-3a21bd08d8df CLINVAR:54617 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04bd8527-e17a-4bc9-a831-f3836bb5d3ee CLINVAR:54617 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d1e1413-ced9-4d79-9c27-63239f70be51 CLINVAR:54620 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93a3e912-7b72-4aed-ad39-14441068cd8e CLINVAR:54620 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67027d88-8de3-48c1-adf8-d5589326480d CLINVAR:254415 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb57bb30-4684-4ce4-a33a-bd471194c94f CLINVAR:254415 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37d948a3-be0b-48fa-9fb3-351d65e0372a CLINVAR:37477 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce14e6af-d0e6-494e-a040-a1d55e92f97e CLINVAR:37477 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38343c00-f4b8-4d09-a6e7-093684ae8cb5 CLINVAR:54616 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfd10325-32d8-4c87-bbf7-ded762c1d767 CLINVAR:54616 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c64bd6e-6097-4e12-b888-f74806f62ba3 CLINVAR:254414 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 945a53bb-678b-404e-bf1f-9720a3e3f237 CLINVAR:254414 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9df5c26e-b37f-4795-b73d-439a6d11a38f CLINVAR:54612 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3493dc4a-b470-4977-baa1-3f1c13a2d2bd CLINVAR:54612 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 991edb9b-7ec9-494b-8314-a3066c33da05 CLINVAR:125575 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0c777b5-c43a-4f0a-86e5-9737784661e7 CLINVAR:125575 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b2954d3-1f94-4c9d-84c5-92fa9d6b0e49 CLINVAR:142666 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a4f7bf8-dd17-4c4b-b323-cdad181178bb CLINVAR:142666 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81183c85-e457-41a1-b0a2-fe09a3cb32d0 CLINVAR:54610 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2149455-837f-42fc-816a-049540cca9ce CLINVAR:54610 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 143f98c9-0ef0-4ee9-9fc5-c7bc8916ddcc CLINVAR:266283 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e98d26c-1812-4692-b3df-7d9239d13d0e CLINVAR:266283 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1414468f-1663-4d54-aad7-a9e5ffea3f04 CLINVAR:548227 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 411f4f4f-a0e3-4c66-85d9-52ebc2b0a7ce CLINVAR:548227 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cceaf9e4-ec41-4961-befc-6d634203945a CLINVAR:266282 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ccae3104-7407-44af-bb64-a9146aed3661 CLINVAR:266282 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df372196-2d26-476a-91f9-63b705b59745 CLINVAR:548256 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 539e3ea7-919b-4315-a6f8-c357bf2f61f7 CLINVAR:548256 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b111b31-73da-43ed-90c7-1c2b6a7db5e8 CLINVAR:54607 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9de5c10a-67b6-4412-b8e0-8477e57be2cb CLINVAR:54607 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46b15211-14d6-4001-8475-bea9ceb334ea CLINVAR:224421 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4d22981-113a-4ed8-9739-41e0a939bba7 CLINVAR:224421 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6a2f9db-5a1e-473c-ba66-6334c125ab04 CLINVAR:54606 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0b06219-1eb8-4987-a8cf-b0b46493a86a CLINVAR:54606 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96e4275b-6b36-4959-97bd-ca0e8cf0a469 CLINVAR:548156 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aff58907-6d06-408b-80c3-0ddf68dbf8e0 CLINVAR:548156 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f12a1d61-27c6-4396-8857-e812405df5f5 CLINVAR:54602 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af71b760-f5dd-4dfb-bf19-8c65fde66639 CLINVAR:54602 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3e1128d-79dc-45c7-ad74-cdec112b824e CLINVAR:548172 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33662a74-449b-4806-b71b-a3d4c8b95ece CLINVAR:548172 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0e8fd026-4317-4292-836a-f0893611ae9b CLINVAR:37475 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56c9b49c-a73b-441d-a365-cf41e28d8301 CLINVAR:37475 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58a979fb-0904-4954-9c82-902059ce8fe5 CLINVAR:236268 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ebca299-ec88-4019-9511-7d6e35ebd315 CLINVAR:236268 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 138e99a6-504c-4bc2-b948-7b7316a97b91 CLINVAR:54600 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f29d003-64d5-40aa-920c-873228994391 CLINVAR:54600 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel add52218-762e-4381-9ba7-47bdf8b149c9 CLINVAR:54599 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d0d1eb6-4e5a-4eff-9c14-8fee0f947ea2 CLINVAR:54599 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7021f0ef-1005-40e9-a42c-5ac6324f0d6a CLINVAR:548157 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23c4e1bd-6ad9-4c26-943c-91483ca9918b CLINVAR:548157 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3dbd2775-b776-4348-af55-dc79b363cb5c CLINVAR:54598 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1039e1d-08bc-436b-a461-58fae96d0161 CLINVAR:54598 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31f42f08-a826-463f-a915-4dce5568076f CLINVAR:54597 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1d00196-6f09-4744-96a4-e275aaeadaab CLINVAR:54597 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 161c7d37-5d45-4194-8d01-3786fd5847ce CLINVAR:266281 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60d549a1-18b8-48e4-9b41-5ac79a9308c3 CLINVAR:266281 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9361c7a-6fbe-4a42-9beb-2e378e6c57c3 CLINVAR:266280 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dea6b3eb-f006-4d36-af91-47ade8dacf5f CLINVAR:266280 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76a2bd9c-c706-472c-ba06-1f5a297b1e02 CLINVAR:54596 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8ed8ae5-9a1b-483c-aa69-2549d9d372c6 CLINVAR:54596 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5ac7ee0-1b67-4e10-ad04-6e0e15de38aa CLINVAR:266279 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0114bb7-ef0f-4905-9363-10683908bb10 CLINVAR:266279 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 023ed1d4-0ef6-49bc-b2fd-6a2bdcea14ef CLINVAR:441315 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53107cf2-13a5-40ae-916f-8de700e3b179 CLINVAR:441315 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29f38faf-b763-4738-b302-11549f43d1fe CLINVAR:266278 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c5ef0a2-9103-4189-946f-cec636f474dc CLINVAR:266278 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc86d651-4546-4d47-bd20-bcb98387b479 CLINVAR:54595 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 333819c7-ea04-4a91-98e3-99a2b3def15b CLINVAR:54595 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48b604ee-c54c-4bd8-8ca1-872547ce7b54 CLINVAR:266277 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9d77fff-68fb-451d-ba6d-03a94b0a396e CLINVAR:266277 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 652881f9-2e76-484c-ac7b-03f89219f494 CLINVAR:266275 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61214762-afe1-49bf-80ae-b96041b09125 CLINVAR:266275 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 541e80bd-9656-4824-9946-ebe4cb3bda2a CLINVAR:266276 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4317b8b-fed1-4058-a679-0af37118d07b CLINVAR:266276 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d5977a0-2e99-4294-9f40-90a3e167796c CLINVAR:266274 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25745cff-df88-4b7b-b563-951224e9bd49 CLINVAR:266274 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c11f969-7c2f-45e6-b466-96ae97228dcf CLINVAR:427237 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2755e5fc-5ec9-4263-80d8-beaee9f714e1 CLINVAR:427237 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e52b9107-bd26-4116-b18f-52ea1e3bb555 CLINVAR:266272 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74ef7ad3-e4c8-4e69-bde7-55262dab5b40 CLINVAR:266272 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e731b3b6-6583-43c1-870d-890b07cc89b3 CLINVAR:266273 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddd9de56-99c9-40e8-a25d-805f7741f3f0 CLINVAR:266273 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe878c1c-1659-4b19-a39d-b25ee12454b4 CLINVAR:54590 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4ee8efe-5bb4-421a-acb9-ccdb33d6c8f5 CLINVAR:54590 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97bd1e48-7aab-48ca-88e5-017c0d4248d1 CLINVAR:54589 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e154dd7e-b261-4e50-831c-672596acc436 CLINVAR:54589 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 281e4b83-524f-4231-b010-b16a2055cd28 CLINVAR:37474 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e033e34c-037c-408a-b17d-baa7c9be5442 CLINVAR:37474 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad04f11e-b4c8-46e8-90c2-3b7ce38ad669 CLINVAR:54588 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93449653-02c9-46b9-826d-a61206c04116 CLINVAR:54588 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 197b2d21-6540-4edf-b0ce-f20a6f374f73 CLINVAR:54587 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ca5a33a-47bc-4434-aa51-2ac634723b30 CLINVAR:54587 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdab92dd-e200-4872-b7b9-89170b79a6dd CLINVAR:136082 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e39f99f7-1e7e-4d61-abb4-cdde4e727214 CLINVAR:136082 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46717e5f-7a58-4f96-95b4-685e6a46b72b CLINVAR:280050 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 468fccf6-18bc-467e-8f46-af7fb511f4d3 CLINVAR:280050 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7bb9ed55-821e-4f11-bb3b-413f8719f3be CLINVAR:266271 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fde7133-fedb-4552-a81d-e81c904427f7 CLINVAR:266271 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9220642f-17e9-473a-9606-74744531bcd5 CLINVAR:266270 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e1b4e5b-651f-434b-9a2e-80b0af300707 CLINVAR:266270 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc336ec6-5eb1-4adf-8f83-6939fd363ca9 CLINVAR:54586 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f57025d5-0d54-460e-9d84-08b86992d82d CLINVAR:54586 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dfebd451-a0f1-400a-b4e0-2014fb3f2431 CLINVAR:548319 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b99f01b2-1fca-426c-80ef-c25d20c81344 CLINVAR:548319 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f80ca92-d57c-4dda-8336-69df3b641da8 CLINVAR:266269 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39d0a762-4456-4571-bfb4-f096f6ad8794 CLINVAR:266269 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57466517-7da9-4492-93a4-472f282a1ad5 CLINVAR:266266 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2849f8a1-cbd8-4312-846c-9a0cf66f507e CLINVAR:266266 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d495b4c-aca9-466b-904c-89fd87a41efc CLINVAR:548298 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28f07a3c-b946-46ca-8f9f-65723cb35e94 CLINVAR:548298 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 66bf429d-12af-458c-851b-8bf5d69f527d CLINVAR:548206 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16aa3a4e-6455-4161-9a9b-2f1364564eae CLINVAR:548206 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e6eb246-bf70-4600-9f3f-2be55521b188 CLINVAR:54585 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 303db380-7d2c-4c0a-901c-d6ed1faec986 CLINVAR:54585 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb5fbc7e-a184-4dd9-861e-7af47e4da892 CLINVAR:266268 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83fa825d-a4d0-4bbd-83d6-1a1417ae4f96 CLINVAR:266268 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e39f647e-de1e-4b16-afc1-fd96119a2383 CLINVAR:54584 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8810692-2906-4dd3-8a4d-3aa23aa3854f CLINVAR:54584 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0e08696-af03-4082-8989-aa83bf57161f CLINVAR:54583 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b8ebee1-771e-4687-a1e3-2432efca6bb0 CLINVAR:54583 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 632cd839-bcc0-4d96-8788-ba6fbc495f22 CLINVAR:266267 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ca72257-47e1-4297-a6d5-c2f21de1a5b7 CLINVAR:266267 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2c27f06-600d-425c-a12e-aaa7b0e78a93 CLINVAR:54578 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fc68b86-dd9c-4b97-8ccf-0e53f54acfd5 CLINVAR:54578 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ea66f3c-4338-418f-b491-12160d25864c CLINVAR:54579 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02431775-c2bb-44d0-9859-cb24fba65374 CLINVAR:54579 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4fd622de-9c35-4a5f-ba36-b0e24d279875 CLINVAR:54577 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 768cb7e0-f8d7-4cbd-8a4f-ec851326a1ea CLINVAR:54577 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5df9f155-b8d2-4893-a4c2-2b5f4712261b CLINVAR:37472 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83c30595-a865-4a86-93b1-815c8a7cac45 CLINVAR:37472 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f336ce18-0595-4b38-a7e5-ef940dbc124b CLINVAR:125571 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 217d1299-eaad-4ce2-a097-16f72c01b6b5 CLINVAR:125571 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 570ee4f7-6edc-4750-91be-1aa1bf8a0806 CLINVAR:266265 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46ca9d9a-0d12-4431-a371-b4b6b4827ebf CLINVAR:266265 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb5126a9-eccc-49c9-8fdd-3ae08aa3bf99 CLINVAR:54574 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b348199c-b7cf-43a3-9938-562bacc50325 CLINVAR:54574 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9aa99cf6-b2d6-484d-9872-0ac9ec7a3d19 CLINVAR:421918 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67e38631-f5d9-4adc-bf12-ae9ad5f1e42c CLINVAR:421918 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel afd0eb58-b260-4ce1-9e07-3cf5e8b0577c CLINVAR:37471 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06a961e7-c6c8-48a1-ade2-9c2e94441117 CLINVAR:37471 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5909e090-da98-42d4-9967-512411c252d0 CLINVAR:54573 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c82d1b02-fbeb-4fdc-af62-6c3369944579 CLINVAR:54573 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2fc44e90-9fdb-4b7d-bf3e-7fa37b9fa89a CLINVAR:254413 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf9c8aa2-a27f-4d22-aad5-46aec50caf53 CLINVAR:254413 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc7c3559-a7c2-4d31-8c09-7a75ed7647c8 CLINVAR:548226 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcb6df6a-c7d5-4c6f-b87e-c57e618f3aae CLINVAR:548226 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9119b222-8c50-4854-9c90-5bd2926c8d07 CLINVAR:548313 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b0caf7a-70af-49f5-aed3-472a7b501cc0 CLINVAR:548313 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4615b7e-c003-4fac-9f2e-b22ca8d663b4 CLINVAR:54572 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f94be52d-8cad-4f92-9a37-61675e2a8e02 CLINVAR:54572 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e09009e-c6ef-45d8-984d-647efc3e5c84 CLINVAR:266263 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2eebfff-4561-4080-9d4a-68bd5fa9162a CLINVAR:266263 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d6f8be7-9203-40bf-86a8-d93c5c0cabd3 CLINVAR:125568 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a083f9a2-31c8-4b28-93cf-6381bf1c979d CLINVAR:125568 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75919a7f-f3f1-4310-8765-6c55f30b5ebf CLINVAR:54570 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a32c9a25-1475-446f-a6ad-d616866fc381 CLINVAR:54570 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel edf5fb15-881d-4335-98f2-6d655abba0eb CLINVAR:54569 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 129a6034-3559-459f-934c-25b5bc2dc5b9 CLINVAR:54569 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ea988e8-636f-4961-9fc7-f60742fb56e2 CLINVAR:230060 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cadebb87-31e9-499a-8557-37c6bfe9bfa1 CLINVAR:230060 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8931b11f-7257-4d86-9023-22f88b17789a CLINVAR:37469 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd6bbdc0-8fde-4bc2-8642-e6550ca82d03 CLINVAR:37469 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23155a30-c33d-4d2e-9f22-bd474b11c9f0 CLINVAR:266262 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1d3a6a1-00bf-4f89-acf9-f456c4766e39 CLINVAR:266262 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1d1d292-ed76-47c3-951a-45573922722a CLINVAR:54568 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad73d169-8d7d-4190-aedc-abaac4572c96 CLINVAR:54568 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28a6d86a-dc20-422b-91ce-14af10c05a5f CLINVAR:37467 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2db2f34-4c3c-4c0f-98a6-61cc3d104935 CLINVAR:37467 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dae8e72f-463e-4435-85fe-4b9e2cf8ff39 CLINVAR:266261 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd70b017-7260-4ec4-973e-3b35677b725c CLINVAR:266261 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55b49fde-12de-45d5-99ce-e4256afcda2c CLINVAR:252379 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fadf823d-c8e3-4a93-bf26-9484960fba82 CLINVAR:252379 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cee02833-c8ec-4e25-a66f-3c9b151157b8 CLINVAR:37466 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 553e7758-b4f6-49df-a67b-0b6595b0eb52 CLINVAR:37466 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5bef280-3760-4a23-a418-3eb9d8ae2093 CLINVAR:266260 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f934f2d1-7825-4706-a97d-9a8aec2535a5 CLINVAR:266260 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5bead893-0485-4f9f-bb12-e504db44996b CLINVAR:266259 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 438b9ab3-57bf-4ff7-b92c-b64a80f79f67 CLINVAR:266259 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d7baef5-99b9-4545-a36e-703e3921c3bb CLINVAR:54560 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 126bd814-f8ef-4b47-8b43-963ce6294262 CLINVAR:54560 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3a1c9f9-dfd0-4e4b-847c-6664d059f627 CLINVAR:254412 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53457a84-d1f3-4932-a857-55215addca77 CLINVAR:254412 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1cf55a73-3813-4359-b3c6-04bce10021b0 CLINVAR:54559 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4a909f3-e3c8-4543-984e-8af286a4e9c3 CLINVAR:54559 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel beb2f9b6-8cae-482f-97d6-52d25f789638 CLINVAR:186397 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b083f97d-e65a-4a99-850e-a7e053b472a2 CLINVAR:186397 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a07eaaf-374d-4824-a55a-fe004bddad9a CLINVAR:54557 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1826134a-61d9-4d5a-843b-bd220e4b2865 CLINVAR:54557 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06a0c597-51f0-46cb-aa87-acba14273e10 CLINVAR:231926 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1cce615-422f-4eee-ab7c-34d2202ab90b CLINVAR:231926 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aeb3bc15-9f87-420a-be94-c808f62692e0 CLINVAR:186090 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83485913-9646-4f7c-ab07-b092e60b2f07 CLINVAR:186090 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8366c87-ec9b-49c8-9dc0-cf0e61411037 CLINVAR:266258 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35470238-6e71-484e-9c36-a336cf919745 CLINVAR:266258 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff49b908-50db-438c-9662-e44eb08d9a39 CLINVAR:54555 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a22d576-9b55-4094-ae39-688161fbcf1a CLINVAR:54555 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 005929e2-5895-4f95-a844-8bdb724833dd CLINVAR:54554 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2dde1a31-c675-4c1e-9460-992480daa39f CLINVAR:54554 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a205934-b4d7-40ae-8de9-53f3d9a0b6f5 CLINVAR:54552 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4f95bf0-52d7-44e4-9b16-480c3955a06b CLINVAR:54552 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34b07676-9ba2-452e-8ccc-371bbf6e920f CLINVAR:54553 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 492ed1ea-2796-4da6-aa54-5ce150bab0f0 CLINVAR:54553 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbca4c1c-857d-46f9-84ff-2a67eeb4db1c CLINVAR:17682 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f5ca1db-3cea-460a-95c3-dc9c9f669f95 CLINVAR:17682 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a4b5981-34c9-4d73-8d77-4fbdddb99c90 CLINVAR:266256 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 806a9f2c-74c3-4eee-9a7a-f67320668f70 CLINVAR:266256 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f186981-3f18-47db-99cb-0d81314f69d8 CLINVAR:91585 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e966c26-b76c-40c6-9e0e-3103eb489336 CLINVAR:91585 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e0460fe-d0c8-4023-abf3-e42d59e65b52 CLINVAR:233279 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 655841d8-446f-4ae7-a536-42821090ae5d CLINVAR:233279 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be80df02-40b4-48ce-952c-e9f18672988a CLINVAR:254411 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79ca70b0-4f92-4a11-872a-ebe2f9c65b18 CLINVAR:254411 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4898e56c-af9f-4fce-bf2a-a1ef91ac2378 CLINVAR:220464 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33b68427-ae90-453a-b0c8-e93908930ada CLINVAR:220464 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b950805-f36d-471d-b314-de2dc3e2fb68 CLINVAR:125560 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ed19798-2b23-4893-b405-f7ad57d4162c CLINVAR:125560 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85f3ed66-7c26-4249-aca6-e43f3a1e8a20 CLINVAR:266254 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b67e777-3b08-4f03-b7bb-b9bd845f5049 CLINVAR:266254 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 338e8b2b-88db-41b2-9fca-02e3ae4c5ca6 CLINVAR:231402 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ece1b5f2-6a8d-44f8-9a29-3737c77a899d CLINVAR:231402 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 400b252e-197f-456a-b6bf-129da9938351 CLINVAR:266253 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e14bd24-efaa-4d29-9e11-28ef3eb8980f CLINVAR:266253 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8910f439-fa03-48a2-afca-ca564c7f7bcc CLINVAR:54549 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a428d5d5-2ce8-41ff-993c-32d3b2b94c29 CLINVAR:54549 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7113d2fe-77cd-419b-848b-5dc4a02a4638 CLINVAR:54548 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 874ba517-2da3-434c-85b4-a9141758c7a9 CLINVAR:54548 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ecbddf50-787b-4544-a1ec-af42aca06088 CLINVAR:54547 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bc595b6-990d-495f-af35-11076249aca8 CLINVAR:54547 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c17afa9d-b1de-4723-ab77-f5d3c8e1733f CLINVAR:54544 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70bbd16e-3337-4b4b-a222-11a67dea074a CLINVAR:54544 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d410815-c2c9-47b3-be1e-988ed2769887 CLINVAR:54546 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9732155c-d9dd-485a-b5e0-916e583401c5 CLINVAR:54546 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 023bc46e-540c-45bd-82bb-7e997f846756 CLINVAR:125556 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d3240a5-b869-4425-adc4-f367961ba562 CLINVAR:125556 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1144d7b-9ab7-4444-aba7-e772daaee5f0 CLINVAR:54545 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c650d215-4320-495f-af8b-22f008d1bf5e CLINVAR:54545 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0674aa41-4654-4fe5-b307-69589fd450d9 CLINVAR:54543 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 330ddc27-f5ba-426c-8da5-f6414be96b6e CLINVAR:54543 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 66deca8e-f1e0-42fd-b52e-93ae2ee48671 CLINVAR:266252 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99a1cfe9-55c4-4812-96f6-9294f03f1af7 CLINVAR:266252 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f15b3b45-9956-4ffa-b105-7810b30f8e07 CLINVAR:266251 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fc26490-46ad-4090-a973-a1e2adf4ba28 CLINVAR:266251 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb3d2356-6f2f-4e17-809b-aecce5c385d8 CLINVAR:125555 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2f9a0a0-6642-4566-b076-077842ac2748 CLINVAR:125555 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c443de97-e78d-481d-8997-001ffafdf66f CLINVAR:54540 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2242d67-e255-470e-882e-2c74278aa3aa CLINVAR:54540 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7cb923d1-72b3-4f93-baca-f8f24d42f59c CLINVAR:252382 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34d72322-73de-4686-a6ad-ee83a61d71fa CLINVAR:252382 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 152aee9e-db80-4ef1-9f63-90f2e4a73f6d CLINVAR:266250 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71c3e31e-190f-471d-8da3-454e89dd9a36 CLINVAR:266250 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 926f1b4d-bbef-4bac-9d97-ed0555c06b8f CLINVAR:54538 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b14066a7-07e7-4e0a-8c0a-319670e3d6f0 CLINVAR:54538 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d139bf33-4bf0-4e5b-a156-8f53323082f9 CLINVAR:54536 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a2df257-51a3-4d7b-aca7-d6242cbee945 CLINVAR:54536 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5dfc89c2-b059-4b66-9655-2cae2172a34e CLINVAR:548187 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 674ab96c-1811-468d-aef3-7075a4829e91 CLINVAR:548187 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d066cc59-e3ce-48b6-bbc8-e2de21606f1d CLINVAR:266249 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d90e5bab-89bc-4d2f-9504-add6a8a9ff80 CLINVAR:266249 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a2780ee-b8dc-4eb7-be5b-4b6a2a577381 CLINVAR:409354 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6578ec4a-45cc-41e4-be34-7c38790ad865 CLINVAR:409354 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f7f1bce-2f90-48e1-9427-c0de66605608 CLINVAR:266248 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0febd658-994a-4c08-93ff-942431589220 CLINVAR:266248 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae7075b6-2288-4c45-b0c5-30b72d474a69 CLINVAR:54532 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40f1c0b5-f7d1-4eef-9645-f7180970dd01 CLINVAR:54532 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5e48f50-272a-4b76-a257-e7226575441c CLINVAR:266245 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 045ceccd-c40c-49d1-8a03-943ab3a5eeb6 CLINVAR:266245 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f24c42ac-13c8-4b60-a8ad-d28548e50ddc CLINVAR:548229 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee202075-b2ae-4ef6-aeb9-d8668c857f61 CLINVAR:548229 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4f9a2ec-9073-4681-9561-3b56414dfe7c CLINVAR:266247 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7515f012-0b9f-4bdd-aefe-e5bea5523466 CLINVAR:266247 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 390e76cb-79f4-4a12-9fd1-5923920b174d CLINVAR:54523 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef4c51d3-7f37-4500-b5be-60aee9aa8ab0 CLINVAR:54523 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd53bdba-5da1-4d64-ac37-c2b86da1abc8 CLINVAR:266246 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 354ae12b-aa93-4198-99a1-22006a73c284 CLINVAR:266246 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa0103ac-d2c2-49f4-9847-66f4c38dc47e CLINVAR:54527 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5caa6522-a642-49b5-b37c-8603cb8afa4e CLINVAR:54527 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d35e4740-7e18-4ac0-9403-2096a8899325 CLINVAR:54526 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b547e025-beb7-4221-875f-347c28768886 CLINVAR:54526 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5218c6d-005a-4a93-aca1-1a19efc9b3f8 CLINVAR:441331 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f1566c5-9879-46b8-8258-eeac2834f8b1 CLINVAR:441331 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1e530d2-6e4b-4b12-b79b-564d7eb2728f CLINVAR:37462 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c76dd2c7-31fb-4bd0-9801-76281d19e653 CLINVAR:37462 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2836631-d104-406c-a111-c77baa6860e0 CLINVAR:188409 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39d8b508-ab89-44ff-b33c-568403a0d278 CLINVAR:188409 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df01c30f-9717-432d-9b9c-ace6d6029cef CLINVAR:17666 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef49eeed-fc71-4fcd-b8ea-0ccc34f60757 CLINVAR:17666 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db563393-1fed-4bc8-9c07-ec67d7b362b1 CLINVAR:54524 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cc4ad76-2858-479e-8778-b6eb13b25d46 CLINVAR:54524 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc47179c-96ee-4227-992c-2a835fb91cef CLINVAR:230816 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b1172f5-c174-44ae-aba5-72bab7e4512d CLINVAR:230816 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ac1fdab-1ee7-4e81-aa85-5f5e616b698a CLINVAR:54521 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 424cacc3-d248-4807-8eec-8610fead0eff CLINVAR:54521 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02a6073c-6a02-4bfc-9c28-d4bd062b2972 CLINVAR:254410 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17d3e114-2187-42d2-825f-98a84f7f12b9 CLINVAR:254410 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d174c53-d81f-441e-8009-144f218a335c CLINVAR:54519 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8ba29bc-678d-43b6-8f81-930a6a17c94c CLINVAR:54519 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76482c0a-9fb6-465c-bc1e-b51c5de7e845 CLINVAR:125552 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fafc9f94-5587-4da3-b7ae-da26221a6508 CLINVAR:125552 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8b9b8ab-8c2e-4ae9-b279-14ec66a49f63 CLINVAR:266244 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5441516b-c7f8-400a-b0bc-649d702a15d9 CLINVAR:266244 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51d2f6cc-027a-46f6-b358-4c24b243d210 CLINVAR:409317 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d360002-e152-451c-8040-db478ef5f1bb CLINVAR:409317 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e26741d2-403b-4078-8b71-7c6559bf6521 CLINVAR:37459 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 312344a1-845a-40e1-8169-0c334fd1bbbc CLINVAR:37459 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02541361-b9ac-43fa-99bc-4a7692640b8d CLINVAR:54517 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3f28be8-5ffe-4039-bb1b-946c7939eca4 CLINVAR:54517 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbc11e87-511c-47a2-a044-60496c4342c3 CLINVAR:54516 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed81e4b4-2c1b-4bf8-82fc-6e8be64e64f2 CLINVAR:54516 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65528a4a-e20f-4db6-b153-b7c79131bf20 CLINVAR:417829 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43e24cbb-b09e-4fd3-85d4-589b9aebb527 CLINVAR:417829 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bea9a0dc-ce22-481d-a530-08fa357424ae CLINVAR:254409 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49264a35-8bce-497b-8b1e-5c31c50aabd7 CLINVAR:254409 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cff5db44-888c-4502-92ad-500f75d3b41b CLINVAR:431225 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e4dcda7-e3b9-4022-8692-4713d35fa48f CLINVAR:431225 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a5f9d19-7206-44a6-832a-8555ce5a60e9 CLINVAR:54515 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f70d837-98f5-4e08-be51-4f3d77b22701 CLINVAR:54515 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43f77c0c-9593-4ff9-8ec0-2a3bd825e40c CLINVAR:54513 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45362bb9-b6d4-400c-8af6-dfa0903ce59d CLINVAR:54513 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b2bec77-6048-4a7e-86d5-cf741659318a CLINVAR:254408 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9115f1cf-4680-456e-a379-643de8010aeb CLINVAR:254408 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b3eb6af-caac-4a03-beb4-539611f6f4b7 CLINVAR:548213 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ef2cba0-6247-4352-ba95-ea3dbebe856c CLINVAR:548213 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf18db60-b916-48f1-a161-bffe7329a905 CLINVAR:54511 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 013a22e0-01fb-4ef8-95b3-1be76bbac548 CLINVAR:54511 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d206b1f-eb30-4aca-b231-4e46370b2e4b CLINVAR:54510 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec13fa31-3b3b-4031-ad67-770f87e5b743 CLINVAR:54510 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab223740-d86e-44ab-a5f3-01ecaf2b72bc CLINVAR:54509 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98239f13-51cc-49c0-ade0-397215079823 CLINVAR:54509 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d7b108c-6a91-495e-bd7e-1f02edcafb0b CLINVAR:240780 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a12c9583-d2da-4890-a65c-d555968298de CLINVAR:240780 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59a0c966-2d8f-4a73-b232-4f631b291229 CLINVAR:266243 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35568b3e-ad04-4a77-9403-5ffc71dd0688 CLINVAR:266243 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99e837b9-2f3e-4165-839c-69c717f91474 CLINVAR:266242 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db220612-300f-44ff-8d91-a28ce349ca84 CLINVAR:266242 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 580bb99b-f39f-4928-a1bf-52517185b73b CLINVAR:266227 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e2d5183-ce23-4071-91ac-89f467e2baf6 CLINVAR:266227 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5be27ccd-2e48-4ae7-8510-9c030ead72b6 CLINVAR:266241 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a91f78a-ec39-4535-8674-34c1392ae072 CLINVAR:266241 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b5399be-9b15-47ef-9e25-de8607c93cad CLINVAR:125548 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e7fe4a2-0feb-4825-a0b0-6b5b42f9a3cc CLINVAR:125548 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d5b4472d-ae3f-4f00-921c-ff5cbeebbfd8 CLINVAR:54504 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d038d340-234b-42de-a800-ceefa8e9c719 CLINVAR:54504 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c51ba316-0c67-4865-8d22-1f004f423061 CLINVAR:266240 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67188e13-f382-40f0-9ba8-37ea283bacc8 CLINVAR:266240 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11a0efc3-64c3-46cb-9f82-c461fb3bd14d CLINVAR:548161 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 078aa23d-7ea8-456b-950c-c89f75231d3c CLINVAR:548161 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2be06f52-7854-49fe-be76-9814fd70e86b CLINVAR:125547 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cbcb77a-ba55-4265-b558-e38723556ebc CLINVAR:125547 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55143366-b368-4836-ba19-ccafcb94a471 CLINVAR:54502 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa2ebb9e-32a2-49a3-883a-dd2bf1d6b16a CLINVAR:54502 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b342788-c535-4d8a-a8eb-712adb2ed737 CLINVAR:54503 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd76eb7e-b064-4cd3-a052-fe4d8754fefc CLINVAR:54503 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbc922f7-ae08-45f8-b270-df94b35eb503 CLINVAR:186881 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f836b65-13a6-4682-817a-6d4fb2bdc179 CLINVAR:186881 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be9d5d24-6ac2-44d4-bdb7-9657bc66b486 CLINVAR:37457 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 567dbfba-c0d2-4bff-a9e1-84e514b83459 CLINVAR:37457 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e4d93b9-ee29-48ca-82dd-a03004cc4ed0 CLINVAR:125546 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c92b8eb6-d652-4d35-8a89-8ac459f79cad CLINVAR:125546 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6098fa8-2b7d-4a92-a65f-256aadda877b CLINVAR:54501 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03178c32-f817-40c1-83e5-4c6ec7f06f22 CLINVAR:54501 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9c34abf-73ec-434d-98ca-ae94d9c65028 CLINVAR:266239 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aba8d3de-f38e-4aab-9d6b-cf1064b5bd74 CLINVAR:266239 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 30c44dfe-1e48-447c-810a-9ec442b41b6c CLINVAR:37456 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a51da224-301e-418d-bf92-fbe3798e06be CLINVAR:37456 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58e5b2c0-04ca-46a1-8134-0f33c06ef352 CLINVAR:54500 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d96ae88f-4ad9-44bf-897a-31a90151d1f8 CLINVAR:54500 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74c49fa0-c7be-4eb8-8f15-3ac3b9348fa8 CLINVAR:409310 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfdd0cd6-7369-4525-82d1-15cf2d2a798e CLINVAR:409310 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb09ffda-7368-4462-80c9-b438753cde48 CLINVAR:54498 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aeabb587-06bb-4285-aa60-2a0848bf7441 CLINVAR:54498 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d63eb2d9-9c0e-48a2-b54d-57868ef96d82 CLINVAR:266238 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b6b10f3-3814-4ff7-b8af-94531ae6d99b CLINVAR:266238 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b98e11d-8c59-427d-acaf-1e8c87fee0f7 CLINVAR:54497 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f802bd74-2181-4f0d-b611-c2c2797731b2 CLINVAR:54497 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f8ff8fa3-dd91-424c-971f-540ad1821fb9 CLINVAR:266237 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48ea18a9-55c3-4273-a2f8-b23d062070f5 CLINVAR:266237 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a281a4f0-9298-481a-82b2-53f99e8af0ad CLINVAR:54496 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af5fbe80-d3e0-47ec-a5ab-77e8efce2a62 CLINVAR:54496 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efa9b8db-5931-41bb-b628-c5449dbda9cd CLINVAR:54495 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a587f9b-3582-473d-89fe-4364fd044b9d CLINVAR:54495 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da0c09bc-7a8d-4903-a4a8-213bc00a0c28 CLINVAR:54489 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d37a020-5ed4-41d2-bbe9-1afe1d29f9a8 CLINVAR:54489 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f105851e-24ab-41df-accc-269a00a964f5 CLINVAR:91578 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3cc1480-4f58-4c51-b308-ef3843ac5e8c CLINVAR:91578 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd11ceaf-458c-4693-9b4a-646a9967c9c7 CLINVAR:266235 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 075448e7-e72a-4e1f-974c-bc4ba9edd7ad CLINVAR:266235 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b437f67b-07e9-4e5d-9482-3c5fa3a91d43 CLINVAR:54494 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37c792f8-2bc6-4c20-82bf-868f709d5731 CLINVAR:54494 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c32fba0-f689-48b2-afab-5c740c3b9aa7 CLINVAR:54493 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2bc2cc8-368a-4b52-b9d8-b657a8d50d51 CLINVAR:54493 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91819ebb-14f7-4822-917c-55f4b75e4564 CLINVAR:54491 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d600063-9632-40ba-9780-ed2a99f7f095 CLINVAR:54491 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82113bc8-5868-4031-99ee-d8b9aeb558a2 CLINVAR:54490 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94976dfc-b195-4402-ab94-6571ae6fe112 CLINVAR:54490 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f220cd75-0f66-4d07-83f7-0eb35c81ec4d CLINVAR:266234 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae41e71e-72a9-46e1-bd29-893c65939c1f CLINVAR:266234 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d261c658-8a80-4964-b207-c9d454b865c6 CLINVAR:266231 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca49c38a-171a-4ded-b838-6b3e9ed3e3fc CLINVAR:266231 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54df0fb3-d68e-4805-ac54-543791a3566d CLINVAR:54492 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3dabfc04-4827-4d42-95c8-c7434291b4a8 CLINVAR:54492 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6455a37-0b71-4624-904e-472428779926 CLINVAR:266233 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1eb1a71-e6ef-4eb7-8ffd-77e768803172 CLINVAR:266233 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 335b8794-fe66-4083-a6f5-c84815f9024c CLINVAR:266232 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f30e4d53-2495-4678-9444-38dd49f6d401 CLINVAR:266232 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6dc1d365-6802-4add-85c5-74919f7b5d8c CLINVAR:266230 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37517a16-58a7-4027-b6ab-5f316d50a204 CLINVAR:266230 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87f417a8-b67a-428e-bfbd-dde05b04a410 CLINVAR:125542 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c023bcd-4f24-4f28-b565-dce2eded3e49 CLINVAR:125542 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4ecafbb-28f2-426f-bd77-02b0537c4824 CLINVAR:54488 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 188407ed-fc75-4164-bb9e-93dcc6d1370d CLINVAR:54488 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6753777a-49da-47d6-b101-a904098abe01 CLINVAR:422530 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1af8d6f-877e-40e5-8b98-33fca3e20f21 CLINVAR:422530 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1bb20cd9-8ce0-4c81-83a0-8cb5ece70f26 CLINVAR:417823 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45550a42-affc-4e80-93aa-5682285c0c6b CLINVAR:417823 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52096885-ea7f-4f3f-81e8-6ae235eb0365 CLINVAR:54484 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45cdfb20-6fcf-4e0a-8a3d-7dbec73843f3 CLINVAR:54484 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 950ed560-4987-403b-b8e9-837736705c5f CLINVAR:54485 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e19ef83-9089-4cdd-a514-55bb3543659e CLINVAR:54485 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4bfb5de-30b1-4f73-a365-ec4e1b5ba5c0 CLINVAR:54482 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22ff4b23-11c3-44bc-b27f-a7ae4db4c64f CLINVAR:54482 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b1bad16-bc4f-4d62-a8eb-ffef882ffaa2 CLINVAR:548170 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 897fdc5b-6b32-427b-a866-881a5a731392 CLINVAR:548170 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd71bf06-fbcb-4c04-9903-d1f78ff9e95a CLINVAR:54477 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 355d4012-db5f-4587-a4cc-f891b5468db1 CLINVAR:54477 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9288507-c929-4c84-860e-96262118e9ea CLINVAR:54480 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d795258-6e75-43e5-9639-46e6bfc2fcbf CLINVAR:54480 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6897ccf0-369f-4c5e-9895-4de99437eda5 CLINVAR:548223 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4aa494fa-4b41-446c-b2a9-5aca0f090974 CLINVAR:548223 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel adacc69b-6b92-4e1d-868e-fb86dc320a73 CLINVAR:266229 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9da6f17a-d097-4587-92c5-0dbf45eb904e CLINVAR:266229 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39f071eb-8614-47ce-9a8f-4c2ac5ee9309 CLINVAR:266228 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0363e35b-2ce7-4bf5-bf44-1136f70df989 CLINVAR:266228 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1455efbd-0e1c-4a1f-8279-ee6d75771489 CLINVAR:37453 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 013fe6f3-ff61-45ad-ab13-d64460a6caa9 CLINVAR:37453 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c3aff39-c57c-4c5b-8070-d2c8fe578e9a CLINVAR:54478 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 913e02b6-b0f5-4c9c-9fb0-6789d790746b CLINVAR:54478 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50e243fb-6b86-4ef4-a6c6-3430983bd01a CLINVAR:54476 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff8f5505-1524-4f2d-b409-0153b48ae543 CLINVAR:54476 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23d68db8-90ad-4cac-96b2-09838b61bf23 CLINVAR:266226 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 353745cd-7b56-4a5e-ab71-2c16ab893777 CLINVAR:266226 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8118ba30-a018-468c-af83-29c245bff4d1 CLINVAR:254407 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90cc7afb-adf2-48e2-a622-ae51ecd17f92 CLINVAR:254407 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 716ac31e-1ff4-43cc-bfc2-dffec8d8c98d CLINVAR:266225 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fa6cc7d-d7ff-479a-aa12-ebc0cec02999 CLINVAR:266225 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 643a7d95-8c0c-4724-8f04-856727bca322 CLINVAR:54475 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d28d04b0-c4c7-497b-9b6d-c05055a9a66a CLINVAR:54475 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4742887f-1268-47b1-b1ce-14833d78184e CLINVAR:266224 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5987c88-78ed-41bc-b7af-7bee8b0c5ffb CLINVAR:266224 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1d0a021-3f39-4f3b-aa68-262f650f1c8e CLINVAR:37451 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1be7c52e-60e7-4ada-9c5e-b972e3ab5f10 CLINVAR:37451 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 385afedd-fc23-4386-a8aa-8398bdf9ccb6 CLINVAR:254406 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13f1c475-f612-48a5-b9a9-74db079c91f5 CLINVAR:254406 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ee3832a-6923-41ba-81f2-5331fa9e7d14 CLINVAR:266223 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b3e7914-df8b-41c1-afa3-41814be55981 CLINVAR:266223 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7102ff9a-c078-45ab-bc8b-ca22ed09be1b CLINVAR:91577 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13f178f1-4cd5-4ffc-ac8c-6b46256b4c50 CLINVAR:91577 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec38a984-4e00-4ac3-9a54-84ab245881e1 CLINVAR:266219 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6307099b-6fb6-4b79-97c4-bd986b6a5d7c CLINVAR:266219 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8fc9bf24-1f02-43f9-a94a-4c22ed9b9e96 CLINVAR:409309 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 467ff466-b7b6-4f0a-9f39-83c69b0ee114 CLINVAR:409309 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39e9d52b-d5ea-45eb-beec-3159e6155213 CLINVAR:548263 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6dde7d8-739c-421b-af87-65efb5dd2884 CLINVAR:548263 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ecb0baab-4709-411d-adb2-e290f996dd96 CLINVAR:548251 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c682e7b6-2109-4128-8a6b-28bc3afe7ff2 CLINVAR:548251 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e1fc418-2028-4b32-bb96-9141fa6187a3 CLINVAR:266221 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2749d501-447f-479f-b3ba-e139d798792d CLINVAR:266221 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35e11e12-3dda-4ba5-b449-6402e1f614c0 CLINVAR:266222 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d862adde-3c28-4461-b03f-8b5294d95287 CLINVAR:266222 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f8132eb8-2992-4618-afb3-dcac1100f4f1 CLINVAR:54470 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1999aa7-6203-424b-8757-6caf83653a2c CLINVAR:54470 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 479a3880-4b97-4593-902d-4bcf15d004a7 CLINVAR:431223 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7275489-fbb7-48c4-9d8f-8b49dc6a07f5 CLINVAR:431223 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 883666b8-3df7-4058-b7d0-049275c76812 CLINVAR:266220 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6d8be50-8125-4158-9883-f67b70f0d122 CLINVAR:266220 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9ef2d52-ba27-4eae-a4f0-45ff12a11df2 CLINVAR:54469 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cc34cfe-5713-4110-a48c-ecdfad8e7bfc CLINVAR:54469 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ca6f790-ffd2-4a1e-82f4-0e817798a2fd CLINVAR:548188 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5887643b-b9e1-42d6-9f31-430b92e23b26 CLINVAR:548188 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3edfa5c8-4636-436d-84c1-cf9f47d88b63 CLINVAR:54462 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5608a46-5b6b-46c7-89e9-a426dc329c1b CLINVAR:54462 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45adbd0a-983c-48a9-abdc-fa925352672f CLINVAR:37445 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9d0bc52-c51a-4e20-a4a8-5606f4f2ee2b CLINVAR:37445 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc39bc75-199f-4f6a-af13-503a85370697 CLINVAR:266218 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19f9832d-ebcb-479d-808e-8d9dc076d7e9 CLINVAR:266218 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9ca1925-f8bd-4ca7-b7de-97f50560c475 CLINVAR:54460 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e52dd0a2-e6b4-42c2-bfff-73de1e9ebe3b CLINVAR:54460 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4434eac1-de24-4064-808a-c394389db6c6 CLINVAR:96905 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb189e2e-4839-4586-9502-e1b9bfc3552c CLINVAR:96905 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bef926aa-b741-4082-a220-fc2b886285d5 CLINVAR:233241 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1f715f6-841f-4d0f-ba3b-383e3acd2df3 CLINVAR:233241 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6f9a382-b911-4059-b4c4-92e47456ead7 CLINVAR:548158 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f59978e-79af-478b-87df-79ac6577840b CLINVAR:548158 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42cad5df-5589-4ccc-89e3-b8cd52d9fc44 CLINVAR:125539 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6a07901-d97b-4e75-8554-a4d6754db1f1 CLINVAR:125539 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11d4c3e8-cec8-4608-b99c-d6c7e10d9e0a CLINVAR:254405 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1541f7c-efa1-40c8-ba47-442363c8e3c3 CLINVAR:254405 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20c491d2-4933-42ca-8ccb-0e105f033cab CLINVAR:266217 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47165970-1787-4f86-8089-26c44f824280 CLINVAR:266217 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03224b7e-dd4d-4278-adc1-fb2486f49782 CLINVAR:440454 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3a30808-648c-48aa-b5cf-621855bcfcfb CLINVAR:440454 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23885aac-edea-44b9-90d4-29ad9e16a9e9 CLINVAR:266215 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5baec2cb-136e-4b44-9ac5-a31c0809d120 CLINVAR:266215 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47e3ea92-8995-40d2-a78e-e13f802f5e0e CLINVAR:266216 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88205f14-fa26-444a-adfd-843f9d063434 CLINVAR:266216 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d17d8ab-0a18-46d1-b004-71f05370f84b CLINVAR:54458 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dba1879a-9bd7-48f9-bfb5-5bf0a8a33eb3 CLINVAR:54458 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ed4d911-66de-4fe2-8066-55c95317de5e CLINVAR:266214 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1aabbe11-bf72-40e7-83aa-970722815573 CLINVAR:266214 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4608547f-c193-4608-a8df-2a3e96f3f1df CLINVAR:54454 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da09118a-49f7-46fb-89c0-e4b74a9d85dd CLINVAR:54454 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68f58ea0-3c7f-48c7-8bef-e5ddd73abac8 CLINVAR:548215 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93826658-b137-4ebd-8975-205c148c02af CLINVAR:548215 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb7a241b-8fc1-4967-a4bb-a298b22b131c CLINVAR:266213 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fced9653-a343-4a00-b936-bdede1200f4c CLINVAR:266213 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d49ef00e-4043-475f-a16c-5b69a3c0acf2 CLINVAR:125535 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50528a55-1b61-4f39-9734-99b9904729e5 CLINVAR:125535 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ba02344-0d5c-48c9-bdfc-1d379bb42394 CLINVAR:266212 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92b0df1f-73b8-46eb-8153-ace4dc2fed2c CLINVAR:266212 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e174c42-b8e0-4d70-9aa4-76c0cb652ec9 CLINVAR:54452 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04c69a51-ea41-45d5-870f-4bc430566dd1 CLINVAR:54452 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3ade0bc-d5ef-47c7-aa44-4024a748a5f1 CLINVAR:254404 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc9d8295-9bf7-403a-a712-c9a02f09fac7 CLINVAR:254404 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc1492ba-5e7d-4553-a66a-c5cd5ba8adeb CLINVAR:54451 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0078c66-cae8-457b-bb6d-59d88c2c4fb8 CLINVAR:54451 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c39ade43-e737-4d35-9e45-56b0964490aa CLINVAR:37444 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 971104ae-6ff0-4094-b14d-49a2a767f59f CLINVAR:37444 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5c691f1-7f96-4b4c-83aa-66f275684e60 CLINVAR:254403 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd4ee615-5b40-4ad0-9544-107141d7b645 CLINVAR:254403 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e4dce46-97e9-44a9-9c5a-db4613fc57da CLINVAR:266211 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 806c523e-a3e2-4ae0-b853-0ed2d231e001 CLINVAR:266211 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 461f0191-1d71-4b47-b9e3-6c0205b3746a CLINVAR:54449 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0db7431-4709-4571-8329-d75c74c5f3fb CLINVAR:54449 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4375174b-c1ae-45a6-851d-14b7734a3c83 CLINVAR:54448 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0315925d-997a-4bfc-97b9-513aac79e749 CLINVAR:54448 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa3f5f0e-5f97-4c5d-bb97-0b6e9a9bc0d8 CLINVAR:142776 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1dee3d52-1602-430e-902f-acd7a321b74b CLINVAR:142776 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38992679-a2bb-474a-acef-942ba5e3b4db CLINVAR:54446 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d230301c-9698-40b1-bef7-c5bf22b749c9 CLINVAR:54446 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50f15fea-7e6c-4598-97ce-2625abecc42f CLINVAR:216102 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e78d6b41-b777-4cf5-92e4-44c693532c19 CLINVAR:216102 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5078a5b6-5923-447a-b4dc-31ff7ce5f3e1 CLINVAR:548168 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 576a1a47-6018-4cf0-b814-a0739ab8ee50 CLINVAR:548168 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf2831d5-5b85-4536-be03-d4aa21d48aa0 CLINVAR:125532 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82beaaa5-d2cf-45d4-98bb-c43880ee7dca CLINVAR:125532 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 80457fc9-56a6-4188-8a9f-39ab53c6a192 CLINVAR:431222 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02f4cfec-feb2-4710-aa05-c6df0ed2b6e3 CLINVAR:431222 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a1885b7-7aa1-4fb6-b80f-2c9ab96ef944 CLINVAR:54443 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0291791c-53fe-45b6-a25f-9c89fa3d3654 CLINVAR:54443 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb770b57-edad-4f03-90d7-0f423400e66a CLINVAR:54442 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f34f1fd-14ec-42ea-89d1-d4b117f70d0a CLINVAR:54442 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 19d147e9-f2cf-4f31-92c4-c37cb6c418f8 CLINVAR:54441 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61c563c2-fdf1-4b42-a398-eb98011b8936 CLINVAR:54441 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ae4ba79-b97e-444e-8caa-1c63458411e5 CLINVAR:54440 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d4e4365-cf8e-4630-8196-c9ef4d9f4dfa CLINVAR:54440 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 066ac33c-3f76-4a6c-ae62-4e0efb448feb CLINVAR:54438 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76f02f04-6f4e-424b-811f-fc655089bce9 CLINVAR:54438 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e2180cf-8dba-462b-a62d-f68d8ad19215 CLINVAR:54437 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6240d77b-f5d0-418c-b34a-5757f5f0d4a0 CLINVAR:54437 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 558ed156-cb6c-4bfa-a638-b40371ed0acf CLINVAR:54436 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11069c17-75fd-425e-b7b1-d04338907455 CLINVAR:54436 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06e13ce7-cd25-44f5-a03d-bc2b95d1afaa CLINVAR:54435 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70e6b6b4-c011-4165-9670-cd447ca1387e CLINVAR:54435 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 321b5f1f-fbd5-4913-a600-e873005932d2 CLINVAR:54434 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e3f059c-0e61-4de1-94e9-bb3926ebccb5 CLINVAR:54434 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0c178cb-134b-4369-b66e-11c8a1826042 CLINVAR:266209 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c250a2bb-f024-437e-ad77-0fd0438e727b CLINVAR:266209 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7e1325c-8950-4864-af1d-ebf03e8c2d9b CLINVAR:96903 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9cad44c-4ea9-4c9f-9dff-85e2b4cfb5bf CLINVAR:96903 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 867e1289-3e09-4ff6-abb1-7c723e614b10 CLINVAR:54430 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe37db27-cebe-4261-9768-f686af3cb544 CLINVAR:54430 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4d690d1-933a-4026-9804-46ad2fa4ea95 CLINVAR:54429 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f712d901-0743-4316-b2d8-83d6cd1d31bc CLINVAR:54429 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a86ed29-319e-4d3a-96fc-e84508795ae1 CLINVAR:433699 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b4c8567-c873-4641-a11d-39aebf9d7313 CLINVAR:433699 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ed99c8b-9907-4e22-9633-a4e31927f123 CLINVAR:266208 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bfff6c1c-1ff5-45df-a268-dd353bb14d6d CLINVAR:266208 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4276da7e-c425-461b-98d4-fa012ca6b869 CLINVAR:254402 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de510359-0963-44d3-a386-a6144306d93b CLINVAR:254402 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6652f79-4001-48b8-8632-1c61a909d506 CLINVAR:37439 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 954656ea-0f38-4d50-9713-1bc10907b4eb CLINVAR:37439 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a754411-6291-4ac5-acfd-352439a18127 CLINVAR:54423 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3765e013-157b-4b3e-a849-4a1bf3bbffa6 CLINVAR:54423 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 843494a2-d147-496b-9ab3-5381cfc9ab75 CLINVAR:431221 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e35d1a68-ea4c-40ec-89d4-31f9745050d7 CLINVAR:431221 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10c3dc06-39d2-472c-9f24-24e1550ec6d9 CLINVAR:548297 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c749a28f-933b-4cb5-9ce1-4036217de8b0 CLINVAR:548297 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 040b2c74-5400-4c93-9168-24591b976db3 CLINVAR:266207 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12b79c6a-dae6-4a1b-a508-6963cf0e4ea6 CLINVAR:266207 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd72a1e6-137d-4023-b34d-d9c515ac6bac CLINVAR:187259 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e09a200-8105-487b-881f-54970474fcfd CLINVAR:187259 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af90fec6-b378-4352-af4f-e3fe6d0212d8 CLINVAR:54420 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 469b6f82-e3a5-4d55-89d1-380e74c336b6 CLINVAR:54420 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86ab9fb9-74e5-4cad-8db1-3cdd4f781644 CLINVAR:54419 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d3cbb61-4011-41ed-aeaa-f3b272cc3229 CLINVAR:54419 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff0bc3ae-cef2-49f8-a53f-bcf56fda76bd CLINVAR:254401 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e70f0950-a2a9-4acf-9988-8aecfa4f1c7e CLINVAR:254401 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d67fe071-4eb3-4fb3-92c3-a5765cf7db72 CLINVAR:54417 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a98db4a2-cd0d-4e97-9182-83727c7206f5 CLINVAR:54417 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6309d976-f6ab-4fdc-9c55-d449a3a17166 CLINVAR:37438 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe5d14ca-c70e-4b48-9436-13a04d082fc2 CLINVAR:37438 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91d3f560-5ffa-4855-80b0-36adcecb9a2e CLINVAR:54416 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0411421-3ef1-4747-bdb6-ccf2fc263844 CLINVAR:54416 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f6eb1d8-5537-4214-969e-458db8ea55d3 CLINVAR:54413 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8db6de34-d49c-4cba-821e-000d3d6b25af CLINVAR:54413 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87e67b9d-43aa-4f98-8874-94b9295797da CLINVAR:37436 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a68f613b-c0f2-4851-a502-efc857264637 CLINVAR:37436 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aaeba565-9879-49d9-be7e-d79ff4f09dbd CLINVAR:37435 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da5964c2-6a5c-4ae6-823a-5d3af5ccb96e CLINVAR:37435 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 409c825d-551c-48ae-a5b3-322e38d74438 CLINVAR:54412 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d197b519-f63c-4ca3-9fb1-3c907eb75f91 CLINVAR:54412 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 191cf421-833e-4136-beac-9497a23fd3ee CLINVAR:266206 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 887be8f4-c62d-479b-8940-25e0bda5a651 CLINVAR:266206 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff809bd0-d7a5-452a-9d4d-f9e78854864f CLINVAR:54411 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4d7f345-6831-4ff8-84e6-c523dac10fbb CLINVAR:54411 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39c84f55-dd31-4428-8ecb-b4ef86ddf449 CLINVAR:54410 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dfa3ae4-e92e-4cc7-bf52-7a01e2f2ce00 CLINVAR:54410 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4fc620a4-0703-48ff-ae9e-163b47ce2d32 CLINVAR:266205 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08b772b4-4c92-40f5-b7f2-dbe44d44caa7 CLINVAR:266205 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d71df958-8209-4636-8309-94e60fd6bb91 CLINVAR:548211 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8fa72ae-5384-4ba3-ad9a-fd00b66157d5 CLINVAR:548211 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9eb22d8-4679-459e-a657-140aebe14ab8 CLINVAR:54409 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4478d064-158c-4db3-81cd-745a887e7ce9 CLINVAR:54409 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e420e5b5-9075-4a50-b332-9fb1b05ce919 CLINVAR:409311 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1baf27d-963e-4e95-91ae-d8d9c974f302 CLINVAR:409311 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16586010-f570-4861-846a-344464837d83 CLINVAR:54406 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a0cc92d-0ea5-4b6d-85c2-f644b97fb4d7 CLINVAR:54406 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35ca26fc-4a8e-4cb9-b64d-c3562a95e5eb CLINVAR:266203 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbe3e60a-8d66-4447-97ef-83cac91ba96c CLINVAR:266203 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c225109-01be-459a-afbd-990787459f57 CLINVAR:54408 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8697f1aa-a1fa-4514-9994-71994a0d4fd0 CLINVAR:54408 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47f5bd6b-bd77-4d8e-b0cd-1a9a6b8ebe25 CLINVAR:266204 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e9659a7-f45d-4a59-93a4-80c537201756 CLINVAR:266204 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c566ae86-393b-4153-9b95-5dbec3c79145 CLINVAR:54405 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ad9bbe7-1307-4af9-ba7d-34512dd4ca00 CLINVAR:54405 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a98307a-ec07-40ef-ba05-110e249b4268 CLINVAR:266202 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d5da84f-f839-404f-9dfe-cb7d0fb94d0d CLINVAR:266202 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e8a1361-34a5-4bc5-a6f3-a3757016e7ab CLINVAR:240777 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9db7da8-2f53-40b9-8167-d03ae749cd4a CLINVAR:240777 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ebfa88a1-fca8-4ae9-a175-0b5cbcf23a96 CLINVAR:37434 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74ca90d7-94e5-4215-a0dc-a8feff8c6f72 CLINVAR:37434 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b87e38d2-7f5d-4158-badd-03e64f4410f7 CLINVAR:91571 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99580e1e-a039-4846-b8ea-2bea4b3566f2 CLINVAR:91571 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel baa9d126-7961-4bf3-b6cc-ae5cb58aaf37 CLINVAR:266201 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4acfcf7-4d9d-4c61-8d93-ebad9cde235d CLINVAR:266201 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6604aee-6ae8-49f4-8cde-9b10010bdf92 CLINVAR:54399 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e283269d-14f7-40be-8790-0c92597ccca4 CLINVAR:54399 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37d444a3-b231-460c-999c-aec63b0d5dcf CLINVAR:54398 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61a4717e-0d2d-4ad6-a552-79ee3b7a0a4b CLINVAR:54398 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 619e3366-e6f8-484e-9bc8-6958dffb8494 CLINVAR:54397 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ae5a305-439a-4f7e-a21e-eab931aa85de CLINVAR:54397 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72f1f47d-2513-4232-baa5-79827ffd3756 CLINVAR:266200 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6fd88e7-047a-4f97-bb6a-6e586aaffe56 CLINVAR:266200 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58830db1-12d3-4537-aa7f-5e2ad77fcf18 CLINVAR:266199 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7856cebe-7daf-4b16-90d0-1a0d25c76440 CLINVAR:266199 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4867931d-5a8f-4208-87ab-4cdc9eec26ee CLINVAR:54393 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e18c950a-fbc5-4028-a498-74e3eeacb682 CLINVAR:54393 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df554aa6-132d-45ec-b761-36ffb4061c32 CLINVAR:266197 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b86cbea0-6d71-41e9-843b-7e72b84e028c CLINVAR:266197 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6788e04a-1352-44fc-9728-6bba069e67d3 CLINVAR:54388 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cc5b77f-ee5b-4747-a4bb-cdab71d36ef3 CLINVAR:54388 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel caa83b15-28e9-4f7c-98dc-266841c97640 CLINVAR:548259 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 573bb7a3-d37b-4cc4-87a9-3b2f6110345a CLINVAR:548259 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0174ee89-7c67-452b-8a11-fdd172dc2168 CLINVAR:125528 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0cfa5e08-6f4e-4368-b125-7b9dc3766544 CLINVAR:125528 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e3b24c8-5805-400f-9ba2-0e0399d1ee07 CLINVAR:54383 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5304193-137f-431b-bc5b-ad49f0670ea7 CLINVAR:54383 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32e367bb-b19a-499c-bb95-453e84efb6d1 CLINVAR:266196 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f782bbba-a746-462d-a790-b0ff603b3e94 CLINVAR:266196 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4cde428a-bfa3-459b-94be-1fd04a1531bc CLINVAR:548273 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 110e8d55-e7ef-439b-8fe2-c9e90e97ea03 CLINVAR:548273 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c98e3c0a-1b51-44c7-b7a6-9703d0035f57 CLINVAR:54379 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 133764b4-8959-4d4f-83c8-379294962779 CLINVAR:54379 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d24e2996-7b61-4c46-b165-abe62eab4e9d CLINVAR:548233 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f8d0103-482a-4070-a304-5a961babef24 CLINVAR:548233 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel edf70f89-a634-4250-ad53-c112307dd238 CLINVAR:236267 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28c2830c-b462-4e06-9e63-324f36861129 CLINVAR:236267 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47588d2f-9b90-4dec-a780-9b2619a8411a CLINVAR:548202 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80670499-0de7-49b1-b113-4fe2f934b2bb CLINVAR:548202 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b7aceb8-9fd5-4346-aa44-79493dd8f5ad CLINVAR:266195 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1eb2b3a0-6288-4d18-be1d-0d6ab764b2cf CLINVAR:266195 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c558cbef-d36b-4d21-a17d-e472bf264abc CLINVAR:54376 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af414ccd-d8d8-4422-bdbf-dc747c63cb09 CLINVAR:54376 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b51ee474-c920-428a-a243-820139efea45 CLINVAR:91567 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3e090e3-2f1d-440b-a083-93506d9be8a2 CLINVAR:91567 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 450afaf7-22cc-4b07-946b-0836396cb162 CLINVAR:54375 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c025007-8cfc-4a4e-bfc6-4bfdf20aa412 CLINVAR:54375 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0dd2fe37-ced7-4f7d-8278-ae4f34b78670 CLINVAR:182105 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6c4e428-5477-419d-adcd-804f565483b7 CLINVAR:182105 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 194b5048-5df7-4656-ba55-46bad0c0e59c CLINVAR:37431 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9beb379-283a-4896-9896-27f84c6a8698 CLINVAR:37431 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9a71aae-34ae-49db-9eec-65a340bd118d CLINVAR:266194 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d449674f-f4d5-4330-a823-b3eccd103141 CLINVAR:266194 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cea193c9-e0fc-4e60-87a5-99bf90b1b6cd CLINVAR:54370 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 533d4759-9ade-46eb-a61e-af6206b90e17 CLINVAR:54370 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43ad2e50-5e1a-47d7-9424-76a0e710e6ec CLINVAR:548224 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cae1bc12-64b0-4b0c-89c7-5ac247060504 CLINVAR:548224 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8282a40c-9d79-4231-9597-77712f4a7f7d CLINVAR:266193 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dac239a9-7b0a-44ef-ad87-130f8386453e CLINVAR:266193 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee435341-14d8-4927-86f3-678787ff136a CLINVAR:254400 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 781da88c-4085-4f94-b17a-e340b7e4ac67 CLINVAR:254400 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3fc8b593-b36e-4608-92aa-366a689f3854 CLINVAR:254399 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd1a59dc-ab6f-498c-b18e-863996203d39 CLINVAR:254399 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57921158-20a6-4f1b-a2a0-4d8b288cf622 CLINVAR:54369 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5ef0bc6-8834-4bd0-8ae0-efc28bbe8e8f CLINVAR:54369 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a88ac56e-0762-43ab-b538-5b71e9b962ea CLINVAR:54368 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f901d4e0-29e3-485e-bcff-4ce5c733c3ac CLINVAR:54368 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f016f0f2-b4dd-4513-8239-6207efbced83 CLINVAR:233617 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 740e442b-a07d-4bb9-9a1f-a4b773400c43 CLINVAR:233617 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 439a6e30-ed4e-43b0-97e4-dd12617c8744 CLINVAR:54366 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bf04cbf-56f7-4dff-b5fd-0b215991c813 CLINVAR:54366 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51ce0bd6-98d3-4957-9b13-d3a9ec3045f9 CLINVAR:254398 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88a1a559-efdc-45dd-9842-80f48895bb03 CLINVAR:254398 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c0c88c8-0c6f-4d09-b24e-0b23351efdb9 CLINVAR:54361 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f094f9e0-c660-4fc9-a077-b2c780262e5a CLINVAR:54361 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16dbc915-a40c-4ed9-9d4d-fe4410df19e4 CLINVAR:54362 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1802b9e1-c03c-4f25-8725-b1b872febdef CLINVAR:54362 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3c08f2c-a172-4641-8a81-6c024e6af369 CLINVAR:266192 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4da7b74d-bdad-4dc7-a56c-a27ad46f6f72 CLINVAR:266192 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 70f2df22-ca0e-46dd-bd25-4258a6040126 CLINVAR:54358 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40b2fb4f-695f-40fc-9fcb-b65e74b26554 CLINVAR:54358 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63970e83-681a-451c-a59e-23d607702b77 CLINVAR:54357 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c64cb42-c2e4-4aac-a908-57845188a17f CLINVAR:54357 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f78888f-8dc7-4745-99d9-5635fcb90a82 CLINVAR:125513 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cb34343-46f6-439a-a134-b1d75c07781b CLINVAR:125513 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1e8e73c-e931-463a-a6bd-22dfe51ffa57 CLINVAR:54356 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6174dffc-f73b-42af-8d37-e8705c3cb538 CLINVAR:54356 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1dfdde6d-497d-43ed-aa99-5be08fba6464 CLINVAR:54355 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5bfc6da-9083-43a3-940a-4d5a101c502a CLINVAR:54355 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f80ab39d-9d37-428d-acb6-2577811fb43b CLINVAR:266190 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e11b9c4-ae6d-468e-a898-ef8fa1194f59 CLINVAR:266190 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 684e060a-efae-45a1-a40c-b4aa6f961e90 CLINVAR:240776 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0cae6317-d28d-4c06-a3f3-f87a9a531f9d CLINVAR:240776 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2bc91ad2-146e-49f8-9ed8-9415af49b491 CLINVAR:266188 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6786d74-0c3a-4926-bffa-8cd24309ab79 CLINVAR:266188 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91027241-3de9-402d-8f13-87e8eefd4c9d CLINVAR:54352 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dbc2062-da3e-4025-bdb2-c1d3f465dbe2 CLINVAR:54352 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24800dc1-740c-46c7-a5f3-2d037462b38d CLINVAR:54351 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d513a90-0009-4067-8898-609ef1ad6c65 CLINVAR:54351 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 004a99f4-8c2a-4830-8b8c-47b2c64f30fc CLINVAR:54348 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 222c5361-5959-47e6-a520-7eea7982cc2a CLINVAR:54348 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0154a414-4b99-4ec7-a063-44ae28425129 CLINVAR:266187 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 451900bf-f2fb-4dce-9d3d-82d9f6728589 CLINVAR:266187 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5aee5296-34ff-45e0-9869-29c68c58e356 CLINVAR:431219 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e941cb1-5620-4f18-b2e6-aa4360eacce8 CLINVAR:431219 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4fa9839a-ca8a-401e-be50-66b25e15ee3a CLINVAR:54346 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1438556-13dd-45db-b3cb-3faf1847c26b CLINVAR:54346 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 40a7e7db-f727-491f-b4a5-07a840c23489 CLINVAR:231505 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f99afda-9a5d-4c9d-9307-0fa3b4f2ee52 CLINVAR:231505 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57f5058d-263a-4382-bdb6-740b325dbf23 CLINVAR:246392 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16ba45d2-1ce4-42bf-85aa-1f6c2e085b81 CLINVAR:246392 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6eb6bcf-4c67-4e58-93b0-d4e6ccf16a0f CLINVAR:266185 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf5f0f26-00a3-4124-842a-95da38a70e93 CLINVAR:266185 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c678832e-f15e-4203-88dc-907ee7d3f7eb CLINVAR:252868 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f3d7629-9833-4ebd-951c-f0ee8483657e CLINVAR:252868 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8761cc87-2c0b-440b-856b-7bbeed72b5b0 CLINVAR:91563 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96261abb-f4b2-4dc7-b0be-8c4d55f2ac11 CLINVAR:91563 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7db6dcd3-68af-415d-af18-e1ac9cf5c470 CLINVAR:54343 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14d223cf-03af-4a93-ac0b-ed35324c890b CLINVAR:54343 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6b53eed-b03d-4329-aac4-d48cd16fd148 CLINVAR:266184 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e01f253-f32c-41b6-8f1c-01d717586e75 CLINVAR:266184 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0525a6c-d91e-4a1c-8742-5df2531398e1 CLINVAR:54341 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4f7ba53-cd19-4a89-a9ee-ad4e2776ee04 CLINVAR:54341 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a05f09c7-0e89-4f9a-a2f2-12924d8963ac CLINVAR:91561 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 277b5f93-34bd-43f6-8b63-5fa4e7bd285a CLINVAR:91561 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8213fe31-ffbf-4cfe-beeb-c2d451992315 CLINVAR:54339 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6fc65e7d-651c-410d-8101-79546356da21 CLINVAR:54339 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d9a04d7-2539-4538-b0a8-8025e8d66a3c CLINVAR:254397 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0eecf576-4a71-441d-9298-b492b5a2ee09 CLINVAR:254397 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 241af4e3-78be-4c97-a22e-11503a39e2a0 CLINVAR:54336 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba49b6d8-3511-402d-82ca-ff42b98e65f9 CLINVAR:54336 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 348124c4-de56-429e-85a2-1d8deb2f1ce2 CLINVAR:54335 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63683341-6d4b-472c-9a12-1cf9c9ca66b5 CLINVAR:54335 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2de5cc62-9aa4-4ef7-a695-2a901c5e6e12 CLINVAR:37428 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de7d8628-9a46-450e-b683-e2f923fa588c CLINVAR:37428 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24f11789-5b38-4d56-b09c-1b98ab770440 CLINVAR:548225 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a776f9d-ed12-4c7a-86e8-1be0a9a07927 CLINVAR:548225 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 424c9b05-797a-4f73-a871-8842dd4481f7 CLINVAR:438914 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15ff0f0d-60f2-407a-940a-cee9d76994a5 CLINVAR:438914 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dad249b8-8715-4127-b38d-ba229b7d9eb0 CLINVAR:266183 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5d86beb-1b7e-467d-b286-6ba12b843225 CLINVAR:266183 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 944412df-d4d3-46a6-9fb3-580d880d5037 CLINVAR:54331 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ebfbdce-c43d-48a1-9796-4102a5ba6548 CLINVAR:54331 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e5363bf-6d4e-4ea6-b23e-f5ca413e8b06 CLINVAR:54333 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70eacec7-83f7-44b0-8d4c-1fd1341e56b5 CLINVAR:54333 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7a3f619-5b73-4309-b1ad-08e56f6e84f8 CLINVAR:54332 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82119c9a-2a42-49e0-8607-bfcb27c1e0e2 CLINVAR:54332 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ff1047e-6812-4fd3-829b-2ecca5feff8f CLINVAR:182135 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 055c1f5a-205c-4124-a4b6-846fe218bea0 CLINVAR:182135 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a608fc88-1a78-4779-bdc9-86c8a5fb32b2 CLINVAR:125508 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34917cb2-fb91-48a0-97ac-67ea931040d8 CLINVAR:125508 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1036425a-209f-4240-96e2-1fd61e1dc819 CLINVAR:54327 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa709ace-f84d-47e1-9472-1205e45d9941 CLINVAR:54327 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 95ea8112-8106-4e57-9df8-5659429ce89c CLINVAR:125507 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 421c2262-b1e2-49a1-bfa1-5969b14595a6 CLINVAR:125507 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0991475-da0f-4e0d-bf02-111a20c9ea7f CLINVAR:266181 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c1ce24f-0221-42dd-b2e7-93e9e720526d CLINVAR:266181 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e35f254f-1011-4e6c-835b-b072a8ba6628 CLINVAR:37426 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6868b2bf-5d06-4389-9fce-e0f4832bf5e3 CLINVAR:37426 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87a3d883-f016-4750-b576-4a79a42f6c65 CLINVAR:548154 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21313c23-4a17-492c-966c-e8ea0c148790 CLINVAR:548154 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a6b4013-eeac-4747-8f08-71a262d5372d CLINVAR:266177 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60baa989-4d03-42d1-8b2c-c603074bbed3 CLINVAR:266177 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8764e3c2-a0c9-4d7a-b9f4-7a36df29a21e CLINVAR:417825 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c82ed8d6-256c-4bd2-ad64-122edbdfbdc8 CLINVAR:417825 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42fdb672-d70c-4e38-8a37-ae56a507f6e9 CLINVAR:37425 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 385f97b4-2794-4c6c-8732-23e0b08e7c7f CLINVAR:37425 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9cb7edc7-980d-4fb3-9e33-6044991b4038 CLINVAR:54322 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a64cfda-d411-41b6-8be0-e03ab101b62b CLINVAR:54322 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c192691-7598-4c02-8d6a-07072a818953 CLINVAR:548277 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b88382b0-f5e5-4771-afa6-32d8e953f564 CLINVAR:548277 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8cd58947-1459-4837-a2b0-f8c40b1f4d18 CLINVAR:266180 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37159364-a261-4942-872a-ba2906c07b81 CLINVAR:266180 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63649aed-fa61-47fb-8d20-dd0545b8ff76 CLINVAR:54320 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6a5c6c8-318c-4b95-b2d8-abbb2e87bb3a CLINVAR:54320 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7fdd792-7b38-4483-9792-45cfd80e4041 CLINVAR:54315 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82edc894-5d52-4b6a-bc26-f6ba6b83ae88 CLINVAR:54315 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0e10fb7-ae40-45bb-8722-eeeb041cd19b CLINVAR:548265 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51031390-c90f-4ad8-8d1e-b0824a3c71b4 CLINVAR:548265 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a81701d-3db5-4306-9f51-140a28774dc5 CLINVAR:266179 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d91e15b-54be-47f9-99c6-53af570921c7 CLINVAR:266179 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f876e149-0ffa-4993-b387-74b515f4904d CLINVAR:254396 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b276f89a-bb75-40e7-b2f1-2ced7e36a7ac CLINVAR:254396 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b1ec93c-3c9b-4805-8f74-bc9396e43e0b CLINVAR:54318 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf21509e-d635-4603-9c91-b59b14ef2a89 CLINVAR:54318 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 70b82f07-0681-46ba-9636-ae91f30f48d7 CLINVAR:431217 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5418560e-ccb0-405b-a1e6-7188a84c877d CLINVAR:431217 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2a081be-cf5a-46ee-8525-a817994c30c4 CLINVAR:266178 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01625ec7-d7d5-4c5a-a2b1-a0a1515591a5 CLINVAR:266178 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5bbb50b6-ee9f-496c-9359-d05469a88b09 CLINVAR:54313 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b968e92-e9df-4f78-ba4b-8af470327eb9 CLINVAR:54313 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36c0d320-faa6-4d59-9918-0740fc1928ef CLINVAR:91560 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dced3411-06ee-4827-9f96-0f6d927d39d4 CLINVAR:91560 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 95e7cd1a-695d-4d04-98d1-4050c665e909 CLINVAR:252430 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1cdb514-5b40-423d-9f4a-9f39f664f548 CLINVAR:252430 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eded5037-5019-430e-84fb-be66a9704147 CLINVAR:266175 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ecd0e529-e46a-4369-b591-29889527cf37 CLINVAR:266175 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe433920-9857-4f99-9f17-13b5fed20fe1 CLINVAR:54312 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edd977ba-bf8d-4add-889a-d5c2253d9b5d CLINVAR:54312 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2bb60bf6-1b77-44cc-aefc-a01c1c4e4fff CLINVAR:54311 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d923422-98a1-47a5-b018-9362794138d8 CLINVAR:54311 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ca525dc-43e3-4e9d-bfc3-e3bcc9b7d5ed CLINVAR:441292 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e009457-3698-44f7-8a0d-9a15e68461f0 CLINVAR:441292 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 151e952f-7836-43f3-a213-2d4671e8af0d CLINVAR:266176 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7f33770-3887-4a0f-97c9-cade42df3bdc CLINVAR:266176 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06774491-d741-4152-9c0c-b94bae2e2f3a CLINVAR:156184 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1b46972-7cf7-459a-bc51-4e4e09bb7875 CLINVAR:156184 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03a7eaa9-e848-410c-b74b-6f55d1c9c9cb CLINVAR:54309 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce349948-ade8-4652-aa17-cc191a8d8bd3 CLINVAR:54309 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 351c3f32-26d8-48e4-babb-cba882bcff30 CLINVAR:54306 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb5758ca-362d-4a57-ba9c-82d87d2e85ac CLINVAR:54306 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04b2ce34-1331-4820-a950-e86a53d39c27 CLINVAR:240774 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33311be4-a96c-4861-afe1-3d63748dc6f1 CLINVAR:240774 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43b6b5ae-1394-4ac1-bd96-b4382feab829 CLINVAR:54305 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a28952a3-ad88-49c2-92ad-4fa9e82594d6 CLINVAR:54305 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 820b4b53-ba67-47c4-9e5f-0e64611112df CLINVAR:54302 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd073d5f-006f-4fa3-bd54-a4200ce5abc8 CLINVAR:54302 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d62c3929-4acc-4a69-953d-2f7f74add4dc CLINVAR:225707 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 177ffefd-999a-4e2b-8cad-d8e9fc6736d7 CLINVAR:225707 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4fa3fa6c-dd70-4da0-90fb-e957e1762f8c CLINVAR:54303 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a69c6c24-ceca-4070-b150-deee0de6b31a CLINVAR:54303 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5a94d89-4ea2-4a05-a7e6-7b11b7cf2ded CLINVAR:54301 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e82f57c-5a06-4782-a8f4-370771bee7aa CLINVAR:54301 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24943333-caf9-423f-bf68-70085605b2cc CLINVAR:96902 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d55f112-f1c7-464c-be1b-b6002fef9b62 CLINVAR:96902 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e13726b7-da87-40d7-bef6-9d20b9e8f352 CLINVAR:54299 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05887bf0-eec3-434f-8e87-19dc4db46288 CLINVAR:54299 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 895aa006-73b7-4d9b-8c92-83bf928cb413 CLINVAR:252867 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf559401-faba-4a68-b5de-f7abbf8f1530 CLINVAR:252867 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f862c19e-b54b-4034-bbea-bbd057cb2d2f CLINVAR:266174 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00b1a317-ab3a-4fce-bafa-57dac6e14f49 CLINVAR:266174 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7f24ad9-b306-47fa-bcd7-80b4d7075e5e CLINVAR:54296 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7b61ca5-e6ac-4683-86db-b1fa63a131a2 CLINVAR:54296 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 80882f79-6187-4655-9844-95c99631786b CLINVAR:548306 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ccf1e44-1f52-48c4-b496-c9a5712d015d CLINVAR:548306 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05826c86-178b-4073-a243-b4b7ae4e70d6 CLINVAR:54292 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81c5d874-3522-4ace-a035-d58a08b2179f CLINVAR:54292 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d4ef294-4e82-4baf-8042-9fc2338eb0bc CLINVAR:125504 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c46fa187-a686-42cb-945f-f390957c0499 CLINVAR:125504 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8230a4a7-7da8-401b-afb7-b9f75b157a46 CLINVAR:17685 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a912cc17-58af-46f2-b2c7-e62cd1a12bda CLINVAR:17685 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d88cee77-ebaf-4e67-ad26-a78103cd99d0 CLINVAR:54289 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3621cb2-58ab-406f-986f-7af720039716 CLINVAR:54289 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 010f683e-23eb-441d-a69d-8911ba911dac CLINVAR:232164 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08b02bfd-ed36-4e32-8f96-a4858a3ad356 CLINVAR:232164 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d96f4d18-ab07-4aec-9471-5c6092d07c92 CLINVAR:254395 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de62fd81-551f-4308-9608-6a36a666453a CLINVAR:254395 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6ea25eb-e379-49a1-b763-b0aec2c83d80 CLINVAR:548314 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eac3c62e-ec89-43d2-abcc-7c1cca9ebec9 CLINVAR:548314 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel acc8a915-8635-409e-87ba-8648cdc23626 CLINVAR:54287 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a811f5e-433e-42a3-b72b-b32c8df00dd8 CLINVAR:54287 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3313bc6d-ceb0-421f-aad3-ec7415822e1b CLINVAR:54286 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f3a3126-7a0f-474e-a32f-e8c59988af24 CLINVAR:54286 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc9b6971-109f-4916-8a3c-1800cd3c54d3 CLINVAR:266173 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aba3657e-5122-4fe7-86fa-697d0fb79d1e CLINVAR:266173 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b60afab2-c16b-424c-b339-ddf12e374454 CLINVAR:54285 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2570bcd-c3e8-446f-9296-8149d8162bed CLINVAR:54285 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e0c4a21-f565-45cc-bd55-ec15e36dba0f CLINVAR:54282 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc2cac90-2eac-4d17-8895-47b143ec762c CLINVAR:54282 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01a21ef0-2bb5-4fd8-ba54-2805eca4dbc4 CLINVAR:54283 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b499f5a9-f61e-497a-b496-f312500de139 CLINVAR:54283 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d10b3b1e-495c-4955-bb83-4c5213e67f35 CLINVAR:125503 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a7aa635-9bb6-4d65-a517-11e4a9089058 CLINVAR:125503 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f3507e0-8121-4811-ad27-a3159a442e0e CLINVAR:548280 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b41a73f5-955f-44d0-aed9-d4a4ca29ad27 CLINVAR:548280 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df9745a5-217c-4244-84a1-b46f8db18197 CLINVAR:54281 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e137b38-f65a-43a8-b5b0-31ff513857e8 CLINVAR:54281 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f43bdfdf-29e2-462d-9fe3-2d806a52e327 CLINVAR:54280 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7c70362-8601-4603-968a-6a82fff33da0 CLINVAR:54280 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e8dc129-1760-429e-bcc6-0241da568565 CLINVAR:91554 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa5b4d7d-2d0b-4cb0-ad99-e6582557b9a6 CLINVAR:91554 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15dab514-68cf-4f14-beba-ec39f487c158 CLINVAR:54279 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f19c5de2-6986-4a6e-8247-b2dfedfcba9d CLINVAR:54279 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29ce70e6-c4e3-4fc5-94e2-fd22c879180e CLINVAR:37418 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49f9842b-526d-48b6-9fd9-dd9dd96be661 CLINVAR:37418 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ddc842fc-22f4-49e7-aa35-b49e52514d70 CLINVAR:54273 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 865fc243-efca-48f8-ad21-fe29e1799ddb CLINVAR:54273 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc4f5fc0-b84a-4c72-8bda-0f3ade1895e7 CLINVAR:231406 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26c19b3b-9c5d-427c-b86a-41f6b11890c0 CLINVAR:231406 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09369012-5c3b-491f-8e39-580f61bc989b CLINVAR:266169 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28ea1bbc-9ab1-478f-9fe1-81497af24dca CLINVAR:266169 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd54e668-22c6-4b4f-913d-ccbaf2657770 CLINVAR:54270 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ca95dc2-6dd7-481b-8fd5-94cfeca225b6 CLINVAR:54270 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa7496ab-3d80-4a15-afa7-cf98efa01f09 CLINVAR:54275 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80ff4d35-2712-4ede-b589-298e354a740d CLINVAR:54275 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4ee67da1-1051-44a9-b222-5830b24b81f6 CLINVAR:37417 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7afe47c-27a3-4cce-8015-e553b45df63e CLINVAR:37417 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e490d00-ca59-4565-b027-dcfd0b46e7cb CLINVAR:266170 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 395894a9-2a56-44c2-bcda-fb1537a1795e CLINVAR:266170 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4e2b050-4ee0-4778-8064-3abe3799a473 CLINVAR:266171 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a044d65-ccab-4054-b9db-00e9aec19ade CLINVAR:266171 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2ce21b7-0cac-4172-9e48-f27fcef624ac CLINVAR:266172 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3db28cc8-52a3-4d09-90fe-27c5c0d4982a CLINVAR:266172 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15eb3a09-5c18-4ffc-90ee-feb276f3094f CLINVAR:254394 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b18ebf3-ac80-4a8e-a9e9-3b5daa070577 CLINVAR:254394 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c5753a0-70e0-4938-bde7-e9772b4be911 CLINVAR:54271 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75e6f94d-f324-4ad5-9ac3-c4dcd8391798 CLINVAR:54271 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b547ba40-b258-41b7-ba31-04e22773be0d CLINVAR:54266 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a611e00-999e-466c-942a-c3ab63c4cf89 CLINVAR:54266 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e9e1c18-4b33-4a1e-8172-c6d5ebe2cee1 CLINVAR:54268 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17424a32-0087-4b25-b9c4-688e1a21f458 CLINVAR:54268 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7da65d9e-9c1e-4eaf-b44e-1e8becbfe465 CLINVAR:142122 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0c61534-1008-40e5-99e9-df713405fb1d CLINVAR:142122 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f6bb35f-b4bd-49d4-845f-6a88b01e5286 CLINVAR:37415 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a1342e2-ea47-4344-8756-fe917e724feb CLINVAR:37415 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2ee90cc-97d5-4624-8395-fca218157463 CLINVAR:187763 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 150412e1-feba-42c2-83e6-79c0cdb143dd CLINVAR:187763 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92e5ff62-1b97-4839-9714-8134e656bd16 CLINVAR:54264 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78e18e3c-4a2a-4086-9f8e-45fb01b0f215 CLINVAR:54264 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97dba8b7-e3c8-48e8-a3b4-ac2cd5731345 CLINVAR:54262 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4dbc652f-5810-4c9f-9251-4fc4c6d40fc6 CLINVAR:54262 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eac58e30-80f1-4ef9-b125-12ff3534e928 CLINVAR:125501 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad029403-48c6-440a-a313-6f2f7805a162 CLINVAR:125501 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f8d8023d-e953-4643-9197-0440975cc7fc CLINVAR:54257 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc59af77-503e-466c-bc70-5974e830ec59 CLINVAR:54257 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4725b976-7974-4401-83d4-907397f6dd9a CLINVAR:37413 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2d67902-1436-4737-acdc-ce1437aa8691 CLINVAR:37413 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1470ac8-8247-4c75-af91-1c3f161a8fe7 CLINVAR:54253 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e11c377f-f33b-4491-ae69-3c368eed892c CLINVAR:54253 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ecb5bd6-019e-4eea-8e75-c7532e224319 CLINVAR:548255 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3472c5b5-867b-4e09-a5c1-c02377354c95 CLINVAR:548255 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08d3016c-e81a-4a1f-b6de-b499cfef4dce CLINVAR:125500 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11eb0efe-79c4-4cc1-8f72-ea371c0c01ad CLINVAR:125500 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0ebb006-714e-4145-9437-f5eefe9c4dcb CLINVAR:54252 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b147a7e1-4ac7-47e6-9618-4a26e5a15fdc CLINVAR:54252 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d80947d4-e029-484d-bbff-a41bac5910f9 CLINVAR:266168 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52ca24b2-3664-46d9-a82f-f2e3baba7158 CLINVAR:266168 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03c0df63-b3f7-4e01-9280-c9dbe0455f4a CLINVAR:417830 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88428ff6-0e1f-411f-97bf-e99f2c9dae18 CLINVAR:417830 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a72ff849-399f-4057-b91a-fb0e651b548a CLINVAR:96900 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8669e9d5-0423-46fa-952c-7f8f53015236 CLINVAR:96900 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4fac2f7-e561-4c1a-946b-b7fd7dffff8c CLINVAR:266167 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7dd75e5-709f-42a9-8e51-060046b6058b CLINVAR:266167 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4cb2e6cb-be51-41b1-8ffa-5361c41f813f CLINVAR:54250 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c434dc0c-6e29-40ab-be68-33a1bd8203f5 CLINVAR:54250 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e02abea9-2497-4d89-b08c-0267e9edd1d6 CLINVAR:266166 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54380280-de3f-4101-b3c7-3a80e4fe3037 CLINVAR:266166 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01758476-bb58-44cf-b0a2-cea6c3acea20 CLINVAR:252863 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63be891a-6f77-4970-9bfc-defe98bde40e CLINVAR:252863 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 156b2432-4a5c-4313-9992-5172ad1247cd CLINVAR:54244 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47668422-6245-4ac4-9ff0-ea4755f8374b CLINVAR:54244 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48b1dd77-2c01-467a-93dc-6c7cdb3a9f7a CLINVAR:54243 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bedf475-378e-4e20-92e9-f90ecb1d2d4e CLINVAR:54243 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 526df356-fac7-4218-a338-b6e9524165af CLINVAR:54241 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39cfb425-f075-487b-8f40-06b9557e3303 CLINVAR:54241 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfee3fff-acf8-4f2c-81c9-6fb3f4c8833f CLINVAR:548239 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56ae19d8-a52c-4f03-a8b8-01ce0f6e689f CLINVAR:548239 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b47c3c1f-084f-4768-8a31-68069b77ce86 CLINVAR:54231 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14c6b095-3668-47cd-88c3-835366c98f84 CLINVAR:54231 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a841ac94-fad4-4cb5-a2fb-dd31dd43c5f1 CLINVAR:548181 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ccd8661d-1d8e-4ac1-b0e0-ba9270a5b7cf CLINVAR:548181 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f977055-f557-4deb-8b4e-994ae791da3e CLINVAR:125499 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb9a052c-ebd9-4c39-929c-59ed3d42a05a CLINVAR:125499 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9faf00c3-56fb-45af-a017-054f7ee9a5a2 CLINVAR:54238 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05aa5016-7e50-4047-99a7-4ae7014b9def CLINVAR:54238 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9640627-426b-4c43-af36-b187716ad9bd CLINVAR:431212 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad90ad90-da0e-4190-ad1f-3ca36c90548d CLINVAR:431212 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 737c2a8d-b912-49f8-b046-9ead3f35f1b0 CLINVAR:266164 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5adde17-dfdf-4ea9-905d-527ab1e5a76f CLINVAR:266164 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc36112e-cacc-4a00-ad69-dba900455e3c CLINVAR:54236 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30007b3a-b54c-41b6-8895-7214f2aeca0c CLINVAR:54236 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cef3d8f9-59fb-47f6-827c-6bd1998d8f69 CLINVAR:37409 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97e1266d-ae62-47c0-9d2e-aa8487e35eb9 CLINVAR:37409 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ee6b9dc-f20b-4a01-bace-ba6149d13a9f CLINVAR:54234 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5182f86-9fdc-4b8b-a058-4c0e85a12d4c CLINVAR:54234 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7b9f1bf-9f82-4d9d-8406-de7642212abf CLINVAR:54233 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8c97567-7464-43fd-aa12-62b573bc4bc9 CLINVAR:54233 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f6736b7-05d7-40de-adf5-d93b5dc9c5ed CLINVAR:54232 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f59fa8c9-a429-4d62-8532-b1d515aeff30 CLINVAR:54232 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e257abe-89da-42be-a34a-3d6c399b37db CLINVAR:54229 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8377f11-1260-48b8-b843-b9c0f792c069 CLINVAR:54229 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d09036b-d13f-4f0c-a14f-63a1dad82880 CLINVAR:54226 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50b85b6e-615e-43c7-be75-ab87c3271ef4 CLINVAR:54226 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e12736e1-c638-492e-a748-6478752aef99 CLINVAR:54225 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38f8a382-d52b-46b5-b5a5-f293a408c2c3 CLINVAR:54225 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0ab7fc6-0d1d-4384-9515-5939b8d1ee4f CLINVAR:266163 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41e979f8-9a6f-4a2e-9d19-cd92be3d71d3 CLINVAR:266163 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de80566b-5289-4071-9ab7-8a1bac1f8d8a CLINVAR:266162 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01240bcc-bcd9-41ed-bc59-f6ca296fd0bc CLINVAR:266162 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c60d636d-9c8e-43e8-8a77-f87a818a70d6 CLINVAR:91550 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad9ed195-90e7-41a6-9f7a-28d277ff183d CLINVAR:91550 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b55d960-1314-4a0a-97a8-4a2af22e4bdf CLINVAR:266161 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67add4c9-96ee-4d27-8f2f-968c6087ed03 CLINVAR:266161 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec3b8ea2-3b11-40b6-9251-6d10c4402126 CLINVAR:54224 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c270435-546c-40b3-81e4-0fe330986abe CLINVAR:54224 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ae681f9-48ff-4f0a-aa25-7b115014e3a2 CLINVAR:54223 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3b6815b-3d51-4c92-a700-9027a7b170bc CLINVAR:54223 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3fe96b50-4bb3-47ad-a5cf-a385cedf823e CLINVAR:548300 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d29afd8-4656-4808-a561-dffa3097db69 CLINVAR:548300 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a62be04d-8662-49c2-b09a-069efee49e48 CLINVAR:91549 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c98d17c-dc08-4d61-bd5c-57367bdab3a9 CLINVAR:91549 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c0ae3f9-00d0-4fb0-aa56-f71fc0df45d0 CLINVAR:37406 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 741348e6-ca61-41ac-89f7-dcf1ed119ed2 CLINVAR:37406 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b71a3626-16ab-4ecf-a330-5aac3803f743 CLINVAR:125495 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffc49515-0f9d-471a-bbe6-72b100ab3970 CLINVAR:125495 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4867fbfc-d80e-4426-9bcb-e7976c2d5a9a CLINVAR:266160 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f278377-2b6b-4861-951b-7b7efa5c03e4 CLINVAR:266160 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42796d41-71dc-42a3-b29e-08d29c2ddb47 CLINVAR:54218 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b31bbca1-a209-4e10-8d0c-1d4c536fdd76 CLINVAR:54218 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae2f73b2-fff1-4e93-bb2a-a0594b0323d6 CLINVAR:54217 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01a87754-b73d-40de-bf54-7fd76469d056 CLINVAR:54217 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b814843-8d63-495d-85be-5ed13403dcf1 CLINVAR:266159 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8586e298-a392-4ffb-b27e-123ab02e8925 CLINVAR:266159 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d424d1f-558b-4aab-a8a1-ad2185d309a7 CLINVAR:266156 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff961c96-4542-4c68-a333-ab58833f8924 CLINVAR:266156 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60213457-0054-4bd1-b2f5-94f9a54c418a CLINVAR:548290 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ec01b0b-fc25-411e-ab66-47ce163a8f75 CLINVAR:548290 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17994502-d855-48da-8802-f1051bffa07e CLINVAR:182103 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a457d30c-ebc3-4887-a99b-a1eee5d160bf CLINVAR:182103 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a4a31ba-f101-4bc0-943b-a2a20e0ee960 CLINVAR:37401 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a89a4690-5d79-4db3-a1a2-65e51e730678 CLINVAR:37401 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18f85ebc-6510-446a-bfe9-1ebdfe8317e1 CLINVAR:54206 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4571b543-4793-4ccf-91b8-dc9a2f49b2b5 CLINVAR:54206 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4982d615-3ce0-4190-b333-c5251b280e9c CLINVAR:91546 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba73cba0-b6f6-4301-b98d-30ccffb34d24 CLINVAR:91546 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e2f547d-f1a0-406f-b5ad-7639d8509aa5 CLINVAR:266158 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fe1fcc8-27e6-41c4-b038-3326677f769f CLINVAR:266158 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9dc20353-0792-4e5c-a13a-d9ebe98c4884 CLINVAR:54205 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4789ddd1-a464-4795-b06e-b8a8d452376d CLINVAR:54205 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6d6b784-82ba-4dad-9a08-1bce89ea1908 CLINVAR:266157 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c9546d6-59be-4292-ad12-2c76fe95dfb0 CLINVAR:266157 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e3531eb-b359-41ee-84e3-c4d6b40bf483 CLINVAR:54204 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 253f26b2-c6f0-4869-9d14-67eba2e926b1 CLINVAR:54204 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1168f180-57d1-4a1f-b394-a078d3ad1ed8 CLINVAR:91545 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9e24759-ded5-4f0d-9725-6ff423db760e CLINVAR:91545 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45154b66-d722-487c-b883-1b1bee80bdbf CLINVAR:91544 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08ab10d8-560b-4cd7-9f4d-abf6041330c1 CLINVAR:91544 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98ce32a4-fa98-4270-b952-c4a3db1fc84c CLINVAR:54202 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c8d388e-03c2-49e7-8fd4-e0d564572579 CLINVAR:54202 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a52e1a4d-6e74-4fa0-b44d-c3135d0ff2fd CLINVAR:54201 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1786b87-c245-458e-bc7e-9f5fd552ea68 CLINVAR:54201 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c36b0ff6-ae98-43a1-b0b4-c4303338379d CLINVAR:548167 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a585ca33-e8a8-4316-a965-fbb5aae21d59 CLINVAR:548167 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5dc6cfc-c0b1-41ef-b9b2-168338d05b5a CLINVAR:54198 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f05cb15e-abba-44e9-9a53-9b9abdf78d8a CLINVAR:54198 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c035fb57-b38e-4397-9736-bba8894d78f1 CLINVAR:54197 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1833f636-797b-4244-80f5-8e62bc8ffe04 CLINVAR:54197 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79f0d15e-3f75-4e52-a118-bdfac0248ac7 CLINVAR:230733 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16be12e4-9bc5-465d-ac45-6eb3e5cd3bce CLINVAR:230733 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd9153a1-f77c-4bcf-8367-ec4214419c5d CLINVAR:433697 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bc8e00a-72ed-440f-ad0d-087b36dfbd53 CLINVAR:433697 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02c517b3-980c-4543-a682-c6f6c2832e44 CLINVAR:266155 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f04852d-e2e7-43f7-baf4-53a1bd8c9c43 CLINVAR:266155 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3c0d03d-6730-4641-ad81-1006374beb9f CLINVAR:224419 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06bd71eb-55ea-4ef2-89d8-1be4eeb58391 CLINVAR:224419 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c915c549-5283-4f06-aa38-ea9fd4934f05 CLINVAR:54190 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ec8a68d-1cd0-4959-9d48-185d22afdd07 CLINVAR:54190 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6fffebb-ee02-4a4b-a1c4-fdc4e12f3d61 CLINVAR:54189 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53669eba-60f6-4d39-920c-8c3d6403b20d CLINVAR:54189 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d9bd4b3-779a-4b9d-aa0f-7446b49a5367 CLINVAR:54188 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17f26dbb-208f-49ea-a23b-797138eaa205 CLINVAR:54188 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 651d7d80-d14b-4e0f-a89e-f67a9db219ee CLINVAR:91543 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ffe749d-ed92-40b6-b043-dc3148ee46df CLINVAR:91543 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2531acc-7b2f-4c6d-93f0-710e5a323499 CLINVAR:54187 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7b32842-e475-4de8-a6a4-6c5df6a3522f CLINVAR:54187 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 402cc894-c714-4c74-aefe-fb024c8d561e CLINVAR:266154 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f69b86a5-c90c-4310-a861-4aebdf8fb9f4 CLINVAR:266154 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce868c37-9fd3-414e-9bd3-49d89cfaba01 CLINVAR:548177 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed437292-9a01-487c-9011-e4729113becc CLINVAR:548177 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7dcd09e0-18fd-4701-a610-e350b348766d CLINVAR:54186 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2c4ab76-f8ed-4ef1-a4e5-23bb0f23d4c8 CLINVAR:54186 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d2b7c9d-4885-4129-a43a-6cab43112e05 CLINVAR:417824 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1892e046-a023-4f6e-bd30-6b2c6c6a4376 CLINVAR:417824 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 49312516-4cae-4e9d-b8ef-41d8750ad924 CLINVAR:54185 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36ee87cf-1c8e-48e7-af45-21285a770347 CLINVAR:54185 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8394840a-b551-4b25-a9cc-3dbdf808deef CLINVAR:422431 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d599e70-7a9c-4b45-b021-0cf62c509675 CLINVAR:422431 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b91ad3dd-e18c-4bb0-b43f-739e2035f8eb CLINVAR:266153 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3013c53-d140-4673-87e3-3cd8e20933b7 CLINVAR:266153 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e56257c-7a2b-4cfa-b047-39f00eaaecc8 CLINVAR:266152 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d18e723-3b51-40a8-a4ca-d069cb157648 CLINVAR:266152 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9ce045e-2379-41fb-8cf6-e1e1424a015b CLINVAR:54184 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee12740e-f9f0-4018-97a3-c6c5dc810ed9 CLINVAR:54184 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9baa84de-0f93-47f5-b896-c60bad2625c7 CLINVAR:266151 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a208e3d4-923f-4fb5-af9f-649aad0dd348 CLINVAR:266151 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67042fa3-5b0f-4e1f-9366-554cb86e7626 CLINVAR:54181 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a4c6d3e-f8f2-4e11-8af0-e36c0ac61ff3 CLINVAR:54181 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ddef463b-9af1-4e97-ae89-e5c0c4395278 CLINVAR:54182 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46b20e53-e38f-48fc-878b-f9891d934038 CLINVAR:54182 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14c09f09-3c32-4cb6-b11c-6d50861145a2 CLINVAR:54183 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5eb270e8-9f81-4fd6-a7c2-81fa1d20bde1 CLINVAR:54183 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f33b09c1-b472-4ae5-9cb8-23d89b958423 CLINVAR:266150 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc9ea7ff-ba5e-431d-9cdc-f0915047eae7 CLINVAR:266150 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 49e98d77-1f53-4a51-8d07-a628d18d06c5 CLINVAR:254393 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ca9c381-7510-4f48-8180-4477e2aec7c3 CLINVAR:254393 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54bd0dfb-08b0-4452-b630-71b1910a7a73 CLINVAR:186634 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 859dfcdf-6c5c-4f79-98fe-c253718d3969 CLINVAR:186634 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed259602-cf8e-4cfd-aa60-c0fbd9206069 CLINVAR:54177 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed87b1fb-8105-471b-9eda-acc686376550 CLINVAR:54177 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec366308-474b-453a-8972-f27f912ed884 CLINVAR:266149 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91f54251-9460-4f0e-993e-a7a7112a53dc CLINVAR:266149 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48c5a121-0f69-4bfa-a357-a8fe86912794 CLINVAR:266148 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c014e9a-0b15-4c1a-98f8-fa85b1704414 CLINVAR:266148 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d21f424f-fe4d-41be-a1ba-bddf05d5b0eb CLINVAR:233760 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7dae30f-da94-428b-b5e1-f71a97374b78 CLINVAR:233760 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel faa2f3d1-ec97-4147-8cc6-2930cfff1602 CLINVAR:54176 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74ea62a6-9d73-428d-8550-5ae97bf9ea02 CLINVAR:54176 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d6ee581-d0fa-4f30-93f1-8bc7e15152c6 CLINVAR:267498 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41cd7bc1-549e-4b9a-a2f4-df893c09637b CLINVAR:267498 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d532aab4-85e4-4c1e-ab0f-72fb4a18ffc4 CLINVAR:54170 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0dce783a-7a50-42e2-8756-97dc781e38b4 CLINVAR:54170 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf2fa9a0-b3c4-4fc5-a324-bd7a83980071 CLINVAR:54171 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84a007c8-3ab6-462f-8b1d-3f32f5daed52 CLINVAR:54171 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e14fed9b-4a9e-44f6-bc96-7877e055e974 CLINVAR:188403 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32ad775d-7640-47f8-98ed-a27dde16c742 CLINVAR:188403 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a6c7761-34d4-4abe-b42b-d8e47103ed2a CLINVAR:548189 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa1a6fe9-ac18-42ac-8e5d-85f321fe71ea CLINVAR:548189 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a28bb1f0-b666-4e36-b5a7-b9481fd4b283 CLINVAR:231599 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47e46951-fe78-420f-81ac-7c9e71b9c4d8 CLINVAR:231599 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f8d7dba-0bfb-46d3-99b9-88c85826a859 CLINVAR:54169 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ff0d7e4-d5be-4fc7-9126-85c35e360db0 CLINVAR:54169 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93da02eb-4e6b-49bd-8996-fbcd057293ce CLINVAR:266147 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e8f8ca95-617c-45de-b756-527c47e0a25f CLINVAR:266147 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b78ab1b-d4df-4ba6-97cb-505796ef7156 CLINVAR:252436 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0de5c60-aa79-4af5-9988-cc22e041d13b CLINVAR:252436 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57501547-7b06-4e65-a78f-26e9c8b95be2 CLINVAR:266146 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03e1e9c2-a3bb-43c0-9735-e4825a7d0a6f CLINVAR:266146 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8367ec6-1bf4-4edb-8e57-22523b96271a CLINVAR:37396 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c888d6fc-0fb0-4b6e-88ff-be742ad56dc4 CLINVAR:37396 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6fddfc0-d2bb-4043-8b12-759baf9a2a5f CLINVAR:548307 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e3aca07-3810-426b-a153-fb63d715fd92 CLINVAR:548307 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b55c87b8-40a6-428b-b316-a0d2a1354cd5 CLINVAR:37397 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c844e77-04e2-4a7b-bbc9-d65538514152 CLINVAR:37397 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec23224f-84c3-4b87-8a4f-96c75a8cd327 CLINVAR:54165 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efc7bdcf-2385-402f-9923-ec9ad3c97856 CLINVAR:54165 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5aac11ea-0f35-43a0-88f5-5364747695fe CLINVAR:37394 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b68cbd54-2f2b-4361-8c32-3317616a74d6 CLINVAR:37394 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eac34d87-d3c9-422c-81a9-180a47043417 CLINVAR:17665 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c4901c8-a75e-467a-bf2b-b8a01c17776d CLINVAR:17665 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d387b268-46f8-40a0-819c-651be26cb258 CLINVAR:96896 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ec0e71b-1945-43eb-a408-1db43e9c97e2 CLINVAR:96896 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79332185-1a3f-4c68-834e-2189bb484058 CLINVAR:54164 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fea893e5-48ec-4ac9-bc10-c22201d4cfd2 CLINVAR:54164 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd2c963f-a967-4659-a501-0ad8b001d334 CLINVAR:548221 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a508c461-91a5-4582-8f39-50e1a96b9c6e CLINVAR:548221 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbd820fc-df8d-4ed4-a516-84ed53aad332 CLINVAR:266145 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 919a9db4-0751-4ff1-8fe0-a6339a48a791 CLINVAR:266145 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a41888e8-fafe-47a6-8300-81bd10f5ce91 CLINVAR:266143 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 223eb2e3-229f-40b9-be04-682c6ab4a9be CLINVAR:266143 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f605b49a-699c-4d2d-897e-a3319e1b64a9 CLINVAR:266144 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 437a0046-48f0-4eca-80b2-462c28da01eb CLINVAR:266144 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 503866e6-89b4-4fae-84e3-22f833c4f609 CLINVAR:438910 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff78fda7-d081-4fa1-b14e-786cd68715f3 CLINVAR:438910 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a66d4811-11ff-4f20-b7fb-7f38ded963cd CLINVAR:54162 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f349ac5-3fc4-487f-841d-4eb918281050 CLINVAR:54162 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7735788c-231d-4aff-9027-4e30c38a7fb1 CLINVAR:54161 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fce2ba3e-88a9-4bfe-b0ec-da21bf254051 CLINVAR:54161 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 063a87ff-d11e-4594-b7d1-471b0aa3cc26 CLINVAR:54160 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a980519e-604d-4c73-8a50-4d0665344331 CLINVAR:54160 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9fda2d24-b887-450b-b13a-f3c189696649 CLINVAR:54159 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ecc48bd-dede-4c68-a3c6-17d32083d07b CLINVAR:54159 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b00bfc7-7632-4afe-9359-952e6c629885 CLINVAR:254392 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b388466a-d069-41d1-8b64-38ef7959cc2f CLINVAR:254392 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7dd19cf8-0ca4-4c22-b58d-f2f06b5e2d5c CLINVAR:54158 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1f2fe99-3127-4d88-9bc0-3bde5610faf2 CLINVAR:54158 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37acefda-653b-49e6-9008-f6951d692e7f CLINVAR:548245 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05ce8242-1d4d-40a2-9819-1845844e9558 CLINVAR:548245 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1aa7f84-8a31-4ab0-8908-f64deae0f45d CLINVAR:266142 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 766027b7-a63c-4cff-9886-209c1dea51ec CLINVAR:266142 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b462365-fd1d-43f0-a01a-4858b0ca388c CLINVAR:54156 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 307e2e99-0cee-4da5-8d9c-2bb5f71d580f CLINVAR:54156 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13524ca1-b570-4959-8977-993489afb6db CLINVAR:266141 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8668142c-dc53-4db9-a723-73ad6fbf05b1 CLINVAR:266141 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51eba404-3252-4985-b3ab-607d17b18765 CLINVAR:266140 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15b8a4d9-d673-4909-8d4c-4cc6d154b928 CLINVAR:266140 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08c70c3c-efd8-4322-b4f2-8e013ec48bf5 CLINVAR:54155 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e3080ef-f41c-4dd9-82fe-9322291cb51f CLINVAR:54155 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb803e7e-6207-4250-9566-e8a0b89b307a CLINVAR:54154 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e31e17a-7315-4f0c-b529-c31d663f1123 CLINVAR:54154 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e697a475-b685-4006-af99-171c77675f60 CLINVAR:54150 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18a714c5-b096-4f47-a439-f020a825ce66 CLINVAR:54150 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eba693db-3f18-43ec-8b8b-a4ad34035adf CLINVAR:54149 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68ed5e73-5a91-4285-8792-6deaac16af2b CLINVAR:54149 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0eb303a-e403-42a2-97f8-42b340676253 CLINVAR:233665 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4340a5ba-cb02-4de7-84cc-7c512ef7ce35 CLINVAR:233665 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0c6657b-692b-40f0-bb35-bd4da5a21211 CLINVAR:54148 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0627068-3b87-47e7-8aae-4e8a2a3161f2 CLINVAR:54148 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4041e59-7120-4627-ac8c-bc62c44a914e CLINVAR:236266 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f7b12ad-3912-4648-9e7c-2ce5bb48070a CLINVAR:236266 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a4f0f60-d5c2-464b-a997-c3a7f0c065d3 CLINVAR:96895 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b700ddb5-2b42-4281-8307-68b3c0058ea5 CLINVAR:96895 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f380908d-f781-4d97-b34c-21646ced6a4a CLINVAR:240770 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 028a060f-5f38-424f-a102-15cdeaddc62f CLINVAR:240770 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 661f1789-771f-4082-8951-c90636f245f9 CLINVAR:252429 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d253e5d6-1dfd-49de-801a-6aedaa7d8bc9 CLINVAR:252429 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bbce8a25-408f-4243-8d13-87eb789c892c CLINVAR:91539 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edc67bef-22a9-417a-877d-255f3b955bf7 CLINVAR:91539 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6531ad1-ab97-44a8-96e5-d38f5a79eae5 CLINVAR:54145 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f9eabf0-5c9a-491b-9561-a8e59a5641c1 CLINVAR:54145 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ba6fff6-acb4-42c4-a9a1-0dd432196851 CLINVAR:231732 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4775bb86-e6ad-4616-a26e-7f9d3004543d CLINVAR:231732 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 510faf46-7544-4d62-ad74-9ae5ea67dddd CLINVAR:266139 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c96ffa0-400f-424a-9a72-d66046132fae CLINVAR:266139 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1d7be7f-3868-4e87-bd6c-6fa0fcdf3b12 CLINVAR:54144 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar faae5f81-ec8b-42d6-b58d-5e3e335b65a4 CLINVAR:54144 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd0521cc-f826-4b4c-b815-e15b2b909573 CLINVAR:431206 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc1cfde3-6d8c-4ad4-ae38-e51c99a840a8 CLINVAR:431206 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f191bc88-d358-4bc8-8412-98521d3a00a7 CLINVAR:266138 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76d439b5-3446-4aeb-8684-04b4255c628f CLINVAR:266138 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed954d9f-e085-49a9-ab7e-dd63d3848999 CLINVAR:125488 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c947359f-a627-4f84-95bc-674c5f9bd310 CLINVAR:125488 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0c82a7b-5095-42f8-9610-7785cb202180 CLINVAR:54140 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c46027f-4879-455d-9b99-5e1d446b6bbc CLINVAR:54140 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10393e32-d826-4e75-804f-d3c65591ad48 CLINVAR:254391 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 633f833b-abcf-4673-9d4a-0aca1da5e188 CLINVAR:254391 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fba82d6d-3fa8-4a4d-b4fd-f47ef57be86d CLINVAR:54138 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 268a643c-2fec-4648-9a51-535232038121 CLINVAR:54138 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3400edc7-784f-4296-acb9-291361690a8e CLINVAR:54137 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 712111ff-1635-4472-85c9-092f61965d12 CLINVAR:54137 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2ffe09a-4f78-4b6b-b77a-878f353fd8eb CLINVAR:37391 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02a30eb9-4a94-4fd5-8eaa-52126588e5b5 CLINVAR:37391 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8de5db18-84f1-4867-b37c-162c040e169c CLINVAR:54135 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c60f616-823b-49b6-95f5-fc00870b318a CLINVAR:54135 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1f614ff-0a38-466b-945a-19ebe78ee985 CLINVAR:54134 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a806224-3b99-4167-a89f-452afcec9e31 CLINVAR:54134 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1de9dc3d-3d25-44ad-b9d3-ef828b3305a9 CLINVAR:54133 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4b4c0e2-65f2-4971-9303-8f48ff3e018c CLINVAR:54133 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 73830d3f-4bc6-4e38-9542-5db269b6f990 CLINVAR:439442 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9aa8b774-3905-43b2-aa32-d34276d58ba4 CLINVAR:439442 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e7ebd38-8738-4c62-a957-232cb5a8702f CLINVAR:548288 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ad480fa-6bb3-4326-a579-7d536d9f3a1f CLINVAR:548288 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7333dfbf-80d4-4272-bda8-09f5a2c24d2b CLINVAR:254390 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d024508-77e1-4c1e-a62b-c7781a736d4a CLINVAR:254390 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c902eb2-6754-4ec9-92fb-a279d3849314 CLINVAR:266137 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0374698-4df6-4326-add8-75bbacc746f3 CLINVAR:266137 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4567186d-ac75-4e75-9e6d-dab3b84bd7f5 CLINVAR:548183 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d140e820-5a9d-4a39-892d-939d7745e9a5 CLINVAR:548183 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59a42fc6-f06b-4e74-bcd1-1ee52708deb9 CLINVAR:54128 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5028c430-36c1-4c26-b330-dc4f6d5f620d CLINVAR:54128 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0687bf01-0e88-4840-92c1-ac2b0274ea73 CLINVAR:125486 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d819acb-fbb1-4a4f-84a5-5641ecba7a79 CLINVAR:125486 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1255108-f750-44dd-878b-169b6d2ce895 CLINVAR:54127 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4428e6f-af91-412e-87d2-35f2de667f9e CLINVAR:54127 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 169fd5e7-f5d9-4ff9-99ae-104e69dccd18 CLINVAR:54126 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5087560f-7f62-425a-8bc1-4b1cbfd4c578 CLINVAR:54126 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e62e26ed-a5dc-438e-b56e-627e81043d0a CLINVAR:91540 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c55f45d1-6f47-4463-8113-05139674ca5a CLINVAR:91540 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 61ca72d8-fff2-4429-a984-050962025e5f CLINVAR:54122 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f421ada-57eb-4808-afa4-1388656d8211 CLINVAR:54122 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 111e0a6c-25a1-4c13-b7c8-ac5d444d54d9 CLINVAR:54125 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8eeef147-53d6-4d14-9535-c09da3c7def1 CLINVAR:54125 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc152276-7131-49fc-9f0c-2676ee3383d4 CLINVAR:54124 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f05a4c28-adaf-4694-8813-8c38cdaba944 CLINVAR:54124 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 753ab4cb-6a71-4296-9109-9047dd801275 CLINVAR:54123 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1865d49-4541-4676-923f-8a20f0cc6261 CLINVAR:54123 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6fcbbcbc-827a-4d70-9696-1d37f3a7fde0 CLINVAR:548321 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81fe67b1-ad9c-453e-a78d-f3fd670ee817 CLINVAR:548321 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f187995e-4fe8-4bf5-a9c9-17d4882b7b8b CLINVAR:54121 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef22d667-2bce-435c-9843-d6ebf7085a96 CLINVAR:54121 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b2d9b91-6761-499b-b276-127bde38aaf8 CLINVAR:548292 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01188eb3-fe83-4e1d-80f6-52e52458f768 CLINVAR:548292 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 374f0e5a-8b8c-49b6-a3c5-daa53f769eca CLINVAR:254389 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce56bd4d-5133-4b88-bcf8-4374fd879bc4 CLINVAR:254389 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5aa4d059-45f3-4b51-aa1a-9589dd5bacea CLINVAR:54116 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a628685-3ce2-4911-9af8-8f84573ddd4a CLINVAR:54116 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46e2becd-b246-4a74-bffd-219a94ae9e09 CLINVAR:54117 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7fe957b-9a28-400b-b403-d9f42423cf81 CLINVAR:54117 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83505bc3-e5f1-4764-a480-8987df7bc5d2 CLINVAR:54115 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9973a2d4-893d-44cb-9af8-c02ac9473761 CLINVAR:54115 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca5ca256-975b-41ad-8864-185f2a4b58d4 CLINVAR:54114 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae712c67-66fe-419f-ab00-74144ffba3f3 CLINVAR:54114 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3031b8fc-8740-4109-872d-6abd92a4ecd8 CLINVAR:54111 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50301130-cad9-49ed-a061-86672f721d6c CLINVAR:54111 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a3b987fc-b8ad-40e0-a762-8ee62874d5b2 CLINVAR:54110 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6adef516-4a0d-4283-9a31-a5f794af6168 CLINVAR:54110 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68b29eff-6824-4d8a-932c-73a3b8dd6007 CLINVAR:54109 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ecced0f1-6ea7-44d4-8a9a-cc132bb9d5b5 CLINVAR:54109 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1af0059c-0ea0-4468-a819-79a4213307a9 CLINVAR:266136 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbc7350a-1336-4e71-940c-fa325374d2d4 CLINVAR:266136 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db673c58-310a-4857-a74a-1ef53f0986d1 CLINVAR:54108 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a006da1c-78b9-403f-a693-141d672a42eb CLINVAR:54108 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27dbf174-37b9-4459-a3ee-f96e09702a5d CLINVAR:266135 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d850a49-6a4c-4ec7-a657-3a726db09548 CLINVAR:266135 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb50d247-4d9c-44fa-8efd-8d1f55f7be23 CLINVAR:266134 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c07ea83d-960a-427c-a03b-d966357773b9 CLINVAR:266134 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e60d7f29-f42f-4097-8089-d104dc81ceb5 CLINVAR:548267 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0db3156-1fc7-4555-a072-8750907e4a6f CLINVAR:548267 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7bd7eabb-9062-40ec-a88a-6ed4f3ddc34b CLINVAR:548315 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df4ed776-17b8-4ced-9294-c6a1a92ff513 CLINVAR:548315 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 950609dc-b51f-4134-92ea-ed3e72fe5572 CLINVAR:54107 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60205ffa-ab86-4891-96f9-6cb36aa53095 CLINVAR:54107 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8796b930-c83e-4558-abdc-cf704c760131 CLINVAR:266133 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 986cbcfe-728d-4a4f-8be2-fcf65ff41070 CLINVAR:266133 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d2474aee-c6a5-4e5c-a662-6e08c7e4aee0 CLINVAR:254388 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5a8ceb2-2904-4ef8-b11e-6a6c6e2c5a74 CLINVAR:254388 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a83d1ffd-f215-41fd-a459-ddaa3aa59c46 CLINVAR:54106 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e33e03ea-a05a-4ee3-8b51-91f7ae017099 CLINVAR:54106 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5bc1f459-219f-4806-9573-4bac7ce29c1e CLINVAR:54105 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28d3d2a9-de88-4918-937d-bcd6dc7fa508 CLINVAR:54105 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 910d666b-c95b-4fb3-8339-aa560afdfee3 CLINVAR:254387 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45b4e18b-1f48-4327-9e59-3e4e0cfc1bbe CLINVAR:254387 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb43c55c-727b-4768-8d47-59821fb20977 CLINVAR:254386 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 520699ad-7f24-4c90-bad1-36e9b3cd7333 CLINVAR:254386 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da66c6e4-fe37-4ab1-9908-21fc0464bbe6 CLINVAR:548294 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99335374-076f-49da-b8f5-996da1b3e999 CLINVAR:548294 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f02e4b10-7c32-48f0-809c-bef3b7bacde8 CLINVAR:37387 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61dc81eb-fd99-4346-ba22-7285f1ddf415 CLINVAR:37387 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab537daa-1922-4104-bb7d-39a3cb9ca76c CLINVAR:548176 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48617e98-5541-4051-bb45-a8f28eca6bd8 CLINVAR:548176 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2904a3b6-a718-4255-b089-bae4ce5555e6 CLINVAR:266131 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0aaa24f-73d3-4434-996c-124be5967a6a CLINVAR:266131 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9951f5d-249a-4464-90ad-fc4334267d67 CLINVAR:266130 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e19293c-164c-42e5-88e8-855638f52632 CLINVAR:266130 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91afb2ff-b030-4157-8eb0-00d405b77fd5 CLINVAR:54102 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 059eb99b-1fe8-45a5-aeab-dccd4c6c5899 CLINVAR:54102 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24ca9720-a336-4402-a9b6-6cc215aad158 CLINVAR:37386 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a167d73f-b04e-481a-b453-1de2a172c542 CLINVAR:37386 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6b63a85-ea01-4dc7-9984-baec0e6ab8ee CLINVAR:37710 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb95a6b0-f12e-4053-970e-08757918e6db CLINVAR:37710 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a398f06-7b2a-4d20-901f-433182936404 CLINVAR:54101 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69f2b73a-442e-4bb2-a683-cbd0430f3bda CLINVAR:54101 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9db75eea-f3ae-426f-8b76-e9fe3ba37ae2 CLINVAR:54100 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b89864a0-8ba6-4002-a5e0-dea8ca835286 CLINVAR:54100 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1eb17e01-ffd5-46e3-8750-3d2435fdf25e CLINVAR:266594 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df721f44-bf37-4e8b-8fb9-fbc3aef46859 CLINVAR:266594 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0831543-1956-43c2-86f1-32f9e2709f5d CLINVAR:230126 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba74cc20-2578-4b24-8faa-09531a1698c2 CLINVAR:230126 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ec6e801-c670-4094-8c19-21a5118366d8 CLINVAR:188407 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20978f12-06d9-44c0-ba30-9cc874711f50 CLINVAR:188407 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2585dd66-8f6f-4a20-a1ee-e6ea12cd422a CLINVAR:55773 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d45b3796-f8cf-4f55-b218-867423cef952 CLINVAR:55773 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f606f248-f4e0-4f31-b9ae-eab4463e5f77 CLINVAR:548220 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a25cfeb4-5f3a-4c63-be5b-a548156b0015 CLINVAR:548220 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3f9985a-4c85-4251-90d9-50086db25f0d CLINVAR:125481 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0650f87b-76c1-4fe1-9d9e-072d7ced815d CLINVAR:125481 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2dab2c9d-44a9-491f-9451-371930caa869 CLINVAR:55772 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 153fe27c-99d0-4edf-bae3-9ada770bc945 CLINVAR:55772 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a8a0df3-b480-4823-92f2-5f228dd64c81 CLINVAR:55770 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7dca8ee6-82f5-48cd-80c8-5499207ba4d7 CLINVAR:55770 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05eecf71-bdfd-491f-9dd9-a300bc66f9be CLINVAR:266599 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab78c4b3-6f5c-4d5a-9772-7b1e32c81e0e CLINVAR:266599 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99719409-9a3a-4549-bdee-698f4843e7a2 CLINVAR:438947 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aaf7761d-1235-464b-865e-523cfc76dcdc CLINVAR:438947 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 558f01a2-ef51-47b3-b6d3-5f0de62d663e CLINVAR:266598 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87d01431-90ee-4584-94f0-25ff4200bf23 CLINVAR:266598 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ca4a16e-ddf4-453a-858f-85236e6ce783 CLINVAR:55768 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2dba32b-11f1-4930-bc2f-212f7f1fba27 CLINVAR:55768 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 268b73d1-74ff-42c3-b3d2-de613b847184 CLINVAR:266597 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9d3197f-0dd2-4f7b-bfcd-8c0c0763d2f6 CLINVAR:266597 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4bfe2074-5101-470b-9681-f237b86aafed CLINVAR:37712 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5275c922-c6ae-40b2-855f-992f118c6562 CLINVAR:37712 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb5a251a-ee31-4f15-bd25-0639d88ec8ca CLINVAR:55765 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12f63dba-5167-459d-a980-7c8286480a5f CLINVAR:55765 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2974e5f5-0060-402c-aea9-c6e36f887e64 CLINVAR:55764 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d159dbc9-e9bd-4881-b6e8-174e06dd75a3 CLINVAR:55764 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9165154c-b5b2-410e-babd-4a933f72c274 CLINVAR:266596 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf7ce7b1-4cac-4c13-93e3-b22be44f431c CLINVAR:266596 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15a542b3-2549-483e-ae93-ed249d8fc76a CLINVAR:548317 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c1d6027-ff17-4583-80c4-22c6a80774ff CLINVAR:548317 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8534d275-cb90-4d6e-897a-d04a9dd575d7 CLINVAR:254385 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ca77625-891c-4ad3-a31d-4e61836f6c4c CLINVAR:254385 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d12ad711-76c2-4992-8c74-c8df181cfcc8 CLINVAR:266595 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6449674-7a1e-4d5a-b0c1-504239af91af CLINVAR:266595 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f048dc72-f031-4428-b143-504b8eebc981 CLINVAR:55763 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fddf7caf-04ed-4dc8-8979-7681b2d70b87 CLINVAR:55763 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26a221c1-87fc-4678-90dc-9e5b8f06580f CLINVAR:55762 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8550a468-df57-422e-a323-8561d1336450 CLINVAR:55762 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ccd9e2e-475a-4e0a-9b28-f886ea5f6ad5 CLINVAR:91669 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2405500-b898-4946-b152-8512cca90161 CLINVAR:91669 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f71ffb2-5e11-4665-b8d9-33dbc0d0b304 CLINVAR:431204 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e06b449-bab2-4615-8486-0555d5ffe9e2 CLINVAR:431204 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 102b87b9-fa02-476f-b031-be98a3c3d297 CLINVAR:55759 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be762bee-85d5-479d-a26d-c9e5c2769fbf CLINVAR:55759 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b0b0652-e651-46a2-841b-5e6a17bb6dc6 CLINVAR:37708 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83f75c86-6b52-4ff3-ba82-f5dd526391a2 CLINVAR:37708 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6efaf894-7fc9-44f6-b4f9-9af4d633a59a CLINVAR:55758 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 407ca4ed-d342-4380-844f-ef393632302f CLINVAR:55758 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 835c97a2-c34c-458d-a7b3-a2989d5a8376 CLINVAR:55757 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5a2fb6a-7d5a-49c1-b7c5-9e697d046ea6 CLINVAR:55757 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25e3da90-a07a-47b0-a9cd-ec9dc73c1981 CLINVAR:266592 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c99f1c9b-9ef8-4e95-a867-5dbfe9b7e832 CLINVAR:266592 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d11aea41-ff2c-41f3-a80b-ddb71cdd6d5d CLINVAR:55755 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1325612-8725-457b-b8e8-431c195239b5 CLINVAR:55755 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 40157917-d71b-4e14-9072-42802b54fa4e CLINVAR:266591 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33321634-f406-4990-abe1-0cf55136b1b4 CLINVAR:266591 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37c0fe83-a404-44a7-9019-937dcdf84807 CLINVAR:55754 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2756480-5c52-4763-9313-29e74b21ca53 CLINVAR:55754 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd685330-d22d-42c9-afe4-dc0ec6023565 CLINVAR:55753 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c32ca481-d533-47f1-a3b5-3f9bf9200a6c CLINVAR:55753 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f042a8a0-5b31-4884-bcd7-9235793087a9 CLINVAR:55752 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf291deb-73b5-4cce-be29-7636a58d2d98 CLINVAR:55752 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74c3c282-6a23-4643-af7e-ea09f8549777 CLINVAR:55751 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c19a1817-5891-4e3c-bc4b-c51fd2247f59 CLINVAR:55751 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26fae645-6c45-4e6a-8901-474f7fa205db CLINVAR:55750 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d43a669f-5c89-4547-a7c0-b7eb9d8d1559 CLINVAR:55750 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59a02c45-c918-46b9-859d-914701811d29 CLINVAR:548159 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9942b8c7-70bf-477d-87ce-2dc3d1eb75ff CLINVAR:548159 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f8377180-80b1-45a3-9d24-c07c4fa4d700 CLINVAR:55749 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77ef040b-94cd-4cae-b81a-cff35310a553 CLINVAR:55749 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34d3373c-313b-44a5-9ede-c198a56a34f8 CLINVAR:548272 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 587ad593-cd18-4a86-9126-647164458dd3 CLINVAR:548272 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ccdc22d-fb41-434a-9cea-9634f5617bb5 CLINVAR:125477 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7414b711-4dfd-4f70-a2c4-d44cfd64fca9 CLINVAR:125477 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77bd4131-8729-4ab1-b432-e0f6b5e8b68e CLINVAR:266590 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a59e5fd-1159-4839-b7a3-ab1d6dff8108 CLINVAR:266590 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56dc47aa-fa32-4b00-a757-53dfa492a61c CLINVAR:254384 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd050fd4-06ca-4ff4-bf8c-1c9f6e7c6872 CLINVAR:254384 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6620fb3-5806-45a5-87a0-51ad427a1494 CLINVAR:55744 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fa7d301-4103-4c52-bcff-379d580cf039 CLINVAR:55744 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46a97faf-6055-4a66-8127-2fdde17b74eb CLINVAR:188406 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 758f2010-6922-4054-819c-fc912c03c955 CLINVAR:188406 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5c92c98-5edf-4401-905c-86622296ad77 CLINVAR:419578 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfc6f1f0-5ef6-4287-aa5c-f22fadbdcc78 CLINVAR:419578 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f6e43f5-0656-4912-8370-10c0fc9265cb CLINVAR:409359 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28607a8d-153a-4196-a449-c6e5366e1f14 CLINVAR:409359 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 175d8b63-fe64-4071-b6c4-751e354a80da CLINVAR:225727 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26522dae-9425-4ff0-a9ec-80ab9e637dd8 CLINVAR:225727 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d61f8be-c2d8-4cab-96f2-74c1a7ac3f77 CLINVAR:188405 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1547a548-e00d-4024-ae71-a8e867ff124e CLINVAR:188405 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1d4374e-e6ee-47cb-8588-d1f442b5a18c CLINVAR:431203 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6167c739-dd71-40b9-ac57-495822cf4833 CLINVAR:431203 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be9e8b7a-e28a-4334-837d-a78cb3e11879 CLINVAR:431202 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 867bf6e4-01de-4522-86a8-11d4055eddda CLINVAR:431202 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a64b6be9-49c9-4395-9bba-4b983d564c13 CLINVAR:125465 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff0c08a3-5339-4c87-b974-efcefa36eae4 CLINVAR:125465 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e361caf-6071-4b5f-84ca-8127da0e02c6 CLINVAR:548186 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54dc21d5-8d5e-41e7-8d21-f1ae3b91a97a CLINVAR:548186 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 727c6a2f-3057-41a0-9544-dd14af4a2cc6 CLINVAR:265362 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f29b4e1-20b0-4809-8820-02f49cc2504b CLINVAR:265362 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c57873e-d2e4-4e53-9998-4a906dc9defd CLINVAR:254383 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bc2c88b-0e3d-434b-a5ab-67190c4828fa CLINVAR:254383 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b94c7ff1-6e2a-4341-9a25-717f3633acfa CLINVAR:266589 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcad95fd-4368-4321-a6aa-53a60ebe9241 CLINVAR:266589 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c38c0c07-74ac-4efc-98d2-b05dc597cb4d CLINVAR:266588 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e91036b3-a115-4399-8951-5a854ea62bf8 CLINVAR:266588 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a500c7f8-4063-4cb4-bb63-569c04d1efdf CLINVAR:182128 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd5e1bb3-35e9-4094-ae09-252a88028b5b CLINVAR:182128 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42762930-4e5e-485b-aa1d-c4c8882e79b1 CLINVAR:266586 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f7e1267-a82d-4f0d-8d18-8b96e09c0543 CLINVAR:266586 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9acdf9d4-7181-4dd8-8c4d-05313c770d22 CLINVAR:266587 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86e725ff-dfe4-4be2-8259-86ba05bbfb63 CLINVAR:266587 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55088161-2e31-4fd1-971b-513996cd2170 CLINVAR:254382 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcd6b466-eb76-4c62-842b-547176e4b9bc CLINVAR:254382 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ae2dd16-1479-48b8-90c3-5415b2495ecf CLINVAR:55740 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8032e3a7-62e4-4415-87ac-a548ae67ed7e CLINVAR:55740 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel daa3b6de-236a-4948-aaf2-dfcb412a8ea8 CLINVAR:55735 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da0dca41-c2ce-4de6-9f27-a4d326c5cb99 CLINVAR:55735 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 839827ed-edd1-47c5-abcd-af539136f309 CLINVAR:55738 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba661f71-e6e2-474d-97b8-16644c8e16f6 CLINVAR:55738 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 613696b3-a36e-44d6-af9d-fb949a36c17d CLINVAR:55737 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 064635b0-d4e6-4483-9ac7-228413f28e07 CLINVAR:55737 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 029dd4f8-bf9e-471f-8c3d-af8f85abf281 CLINVAR:55736 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e44e9aa-0de9-4d3d-a84b-f621fcaa3ac3 CLINVAR:55736 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0026a4fe-5c5f-42c8-a0a8-47191b911c88 CLINVAR:17683 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddfab2c9-01f0-4cc8-9f86-73b8881fda46 CLINVAR:17683 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e50d36d8-9342-4ddb-91c8-19080981f712 CLINVAR:427236 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a036eea-78b0-436b-a417-6d413be483be CLINVAR:427236 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9ceb97d-39c6-4b76-adad-9e2bfebe849c CLINVAR:254381 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 116ddc82-203e-4e83-9c80-49ebfdfe457b CLINVAR:254381 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1fa8cea6-8f77-449c-8ac4-37a998847887 CLINVAR:266584 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d148bade-5db9-451b-8751-4a9463a576c4 CLINVAR:266584 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae2c8ba3-fe5f-47e7-a1c6-c9350e5d7f5a CLINVAR:55729 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10caaa1f-1124-47f2-9c3f-ba895add530c CLINVAR:55729 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06255cd3-dab5-44f5-969b-9f3f1fb97af3 CLINVAR:548271 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a3366b0-732d-488d-8d60-408480e8de78 CLINVAR:548271 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd43f06f-7ac4-43a5-a158-23fea4b66e22 CLINVAR:266585 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17910748-5563-4f73-981d-57dc225ef5eb CLINVAR:266585 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc0e11c7-f518-4161-883d-68d43995e074 CLINVAR:266583 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 866662ba-efb4-44c7-b9d8-464574a23977 CLINVAR:266583 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4025737f-0699-4907-8917-4360ff6be08d CLINVAR:548164 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23bb450c-ab20-46c9-b7e5-81c36202e577 CLINVAR:548164 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68921df4-5cf5-4349-98b6-62cbfd15cb24 CLINVAR:441387 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6dbae92d-bda2-495e-bac6-95dd7b69d08f CLINVAR:441387 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e49c6728-5bd8-46a3-ba32-9701e9d55d2c CLINVAR:55723 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e42542d-13bd-4e01-b305-6b4398aa13ed CLINVAR:55723 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92fbc9e1-d609-4154-aee5-6027d85cca6c CLINVAR:55722 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a9738cf-d1f7-46cc-b012-d65029f0ae20 CLINVAR:55722 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a4506e3-7cad-486e-86db-5f590574b907 CLINVAR:55724 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 080b7e71-d691-4448-b302-3bc26071d495 CLINVAR:55724 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce621cba-c5ad-40d7-a090-18426a40fbd1 CLINVAR:266580 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 897b625a-c426-416e-a378-f252737d944c CLINVAR:266580 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d691384-3418-4c1a-af2f-d25478867384 CLINVAR:548169 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 587f77e2-170d-4eee-842f-e43ebad1cd5d CLINVAR:548169 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8034a404-1520-48e2-aa41-cf540916f6d5 CLINVAR:266582 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21fe1a84-7a31-4c13-a81a-42c7bd3421c6 CLINVAR:266582 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e48e5794-e534-48d0-8347-84e442a5bdad CLINVAR:266581 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cef2fc6b-2c9b-4252-bb82-ce4bd40ac65c CLINVAR:266581 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76a1498c-f769-436b-a995-ddd545aae9c1 CLINVAR:55714 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33fd4f54-656f-42fb-9895-b9c76f413196 CLINVAR:55714 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14133389-8b7c-480d-9d39-9af54db983dd CLINVAR:409314 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 482fe6ea-9053-4fc1-8efa-91c15afc54e9 CLINVAR:409314 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58314b42-42a4-44ab-a31d-6b27a68ef943 CLINVAR:55713 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0d05842-735c-4735-813e-9e5c17a5eed5 CLINVAR:55713 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53985973-d7a8-42d7-a99e-6e8101d2621c CLINVAR:55709 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b6f0055-9788-41db-8e89-eca3da3b158d CLINVAR:55709 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1cf303ce-4d77-4f49-abf6-4e68f03627cb CLINVAR:431201 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d57bd76-64de-4f6d-a3a4-f6b7e1d8ea43 CLINVAR:431201 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b5765d1f-6feb-4509-8d95-4bc0def63596 CLINVAR:37698 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b9d11f6-0d72-4b5d-b6c3-72bd095ff6b0 CLINVAR:37698 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b738db21-a8a3-4bb5-9d70-65387ed6ee1a CLINVAR:55707 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3e4e70c-c6af-4b16-adda-36ae9f9469d8 CLINVAR:55707 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28d977ca-ad9f-44f2-87b9-c232304bd875 CLINVAR:266579 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05f4479b-e157-40d0-a918-04f44df8dbb2 CLINVAR:266579 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 087a1e4f-244c-413f-9f51-b4e0c40baa90 CLINVAR:266578 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2eb91e7a-c838-4ffb-ba67-f634b715f510 CLINVAR:266578 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da7dae63-5e65-471a-bb24-f4c8c51647d9 CLINVAR:254380 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d21a76a-8981-45ad-86a9-714899c6939e CLINVAR:254380 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07bdc670-5bec-4258-a764-135f50ff8363 CLINVAR:37697 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf1c7f6a-ef9b-42a5-b8cb-fd8f362fe43c CLINVAR:37697 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36fadd0b-d118-4a05-a4d6-6317b37267ac CLINVAR:266577 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d50da5de-e1c0-4979-a18c-0932fa6780d1 CLINVAR:266577 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c42bcb5-9ec2-4ce1-883e-33da55180fe2 CLINVAR:55697 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83d873b3-f7f7-4777-8a35-c9cfc339e049 CLINVAR:55697 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27126586-899a-4ce5-9bd3-d5e977f6c51a CLINVAR:548212 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fa1f25f-e11f-4cf9-8fee-eb8a3ec30d5e CLINVAR:548212 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c84fc1f3-e880-4d22-9dca-0861e6a81c8b CLINVAR:548242 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d317e54-c8bb-4e09-a365-24f09d11f0a7 CLINVAR:548242 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23b796b2-1793-41b2-ac85-6b1cbe64b29c CLINVAR:55693 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08b6bde5-e2b9-445c-9d31-1d4df2c2bdc0 CLINVAR:55693 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbde36b8-42dc-4ce2-9398-36c93f7132f2 CLINVAR:266576 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4270ddc6-7609-4bb0-94ca-ad4a111f6bb9 CLINVAR:266576 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e68cd6e1-24ba-4bb1-9034-8dc87bbd0b0e CLINVAR:254379 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 695ed54c-a9d1-4c91-b3af-dc2ada8bda08 CLINVAR:254379 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f51fa647-0ccc-4426-bce5-8e3a13f5f90a CLINVAR:548219 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b73d898e-aa74-4d9b-9323-4436e883c0d8 CLINVAR:548219 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d0e2b56-526f-49c0-bf16-3a3bd2b8afd0 CLINVAR:409361 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d365c645-14c8-4abf-8860-c27573f8faa7 CLINVAR:409361 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3edd14b8-a7d4-422b-afda-5be00a06b5ea CLINVAR:266575 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d88d822f-965e-4d49-9e99-55d9f5c893f9 CLINVAR:266575 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a3828c5-e016-4def-9ddf-9ab83589737a CLINVAR:55686 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a05fdcc-f6ac-4722-9cb7-59e20d905766 CLINVAR:55686 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86906883-5e9e-4ad4-9c80-9640e46c5411 CLINVAR:55683 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0234b938-25f7-4ad0-8672-779dd86335f1 CLINVAR:55683 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 66013930-ae80-4a81-ac23-b0b317a06b36 CLINVAR:254378 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33bead80-ef19-47da-a9c2-36dafd3c24f1 CLINVAR:254378 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d336cf5-b12b-411f-b1eb-b688068ad11f CLINVAR:55681 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5bc4296-69dd-4fca-82a4-4bfc49b299f0 CLINVAR:55681 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 470d3989-3900-4d2d-8785-e8d1dc41aad1 CLINVAR:548222 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e2ec360-34cb-412b-842d-d817da45a0cb CLINVAR:548222 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e976c4b-9832-4415-8379-fb9ca60402cf CLINVAR:266574 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf59f5d9-3cdc-4f5c-9cd2-65bb9183f70c CLINVAR:266574 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54fcc2d2-deef-43c6-9181-5120ee9afc28 CLINVAR:266573 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4a318df-0172-4898-a84e-2df818451f33 CLINVAR:266573 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98d7352d-b471-43f7-9ac5-0c16ca8e3a36 CLINVAR:252397 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 860e58ff-ede2-475b-ada1-15e12415933c CLINVAR:252397 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2bb7bb15-739b-4a05-82f8-6b3c09d7397f CLINVAR:266571 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96f16dc8-773e-4296-b615-7ee57202248a CLINVAR:266571 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a547af17-11b3-46ca-b041-0a1af68dcb55 CLINVAR:266570 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad21a923-dbbc-4601-aae4-c0e20ef94116 CLINVAR:266570 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e6605d6-5a98-468f-af7a-78e29ec20135 CLINVAR:431200 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47c7d5f5-5025-48c2-ad4d-253f2242bd56 CLINVAR:431200 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9597bb1f-f3e7-4048-bf1c-7dbf02401d0f CLINVAR:37695 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5bd7137d-277a-4a76-b6b3-22d09efcc66e CLINVAR:37695 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8696d481-e643-4963-918f-fe980d3283f8 CLINVAR:433694 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3fb4347-986c-4277-9a2d-a4e2b9559f21 CLINVAR:433694 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c92a9746-e9b3-4d48-a9d8-3825c9a1a73d CLINVAR:266567 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69464586-d8f9-48ed-bbf0-9280fe3b6d71 CLINVAR:266567 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b624038c-3a44-414c-bc66-b29cc726831c CLINVAR:55666 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8179bfe-3629-4604-a4d6-e48ee90f3c06 CLINVAR:55666 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e7e52f02-cbee-4859-a506-f4b89c68533b CLINVAR:252435 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c63b2c6e-b1c3-4f3f-a270-c59fc31bb1c3 CLINVAR:252435 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efbd97c6-daff-4560-9497-66508255a6a6 CLINVAR:548296 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8b6e49d-d65d-478b-aef2-13cc23b4ab04 CLINVAR:548296 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4198c96-ab06-4f0c-9c13-94e6d255ab19 CLINVAR:55665 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0e14a2e-2c99-4285-81a7-1d708ce7615f CLINVAR:55665 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e815f484-ef24-4f6f-b895-2f73e191271e CLINVAR:37693 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 661caab3-5987-447b-bac2-aa15023cb142 CLINVAR:37693 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ed19daa-fce4-4cc9-9cad-a0dda67d6ab7 CLINVAR:37674 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de7fa1cd-897b-4282-99db-d1c818655117 CLINVAR:37674 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae3b186b-76ba-4cd4-830b-d29e019f2489 CLINVAR:55590 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74e04f2b-4538-4bf1-b605-eb38800479c9 CLINVAR:55590 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 204fca59-1441-45c8-9f90-15a13a5fa5c6 CLINVAR:55555 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d3f0274-c4aa-4a36-92b3-e7418e31bd81 CLINVAR:55555 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12b94cb0-11fd-4582-90b9-eae4ddfa3829 CLINVAR:220026 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d3fcb65-25dc-47f8-bf04-61bd95b239a9 CLINVAR:220026 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0c28ed2-f9bd-4ee9-9c33-0ffdb3914ea4 CLINVAR:266546 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f74d2315-ba7f-45a5-8f91-f22fb8cbe7cc CLINVAR:266546 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24991183-70e0-4eae-aa0c-8fbdea75e69f CLINVAR:55512 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bacad64-8735-4fe1-ad57-f745caf6eb79 CLINVAR:55512 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8f89d50-67bd-4eec-aef2-3d243bbaf714 CLINVAR:55460 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a70401f4-c2d1-4ec4-a278-32bee218257f CLINVAR:55460 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2bd40a52-b541-44d2-9be4-ce5100cc8cbe CLINVAR:224417 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6644028-c9b3-4d98-ba98-c99db43dc48a CLINVAR:224417 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85a28c0e-074c-4582-8bba-eaad87fe6e08 CLINVAR:266531 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e11663da-3e0f-4e0c-b378-24bf1b0a6ade CLINVAR:266531 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68d5805e-e4d1-4805-9de0-0c3e8275995d CLINVAR:246360 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c988acc9-23fc-4c6a-bdc5-282d119fb7ea CLINVAR:246360 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 492a3d6e-0373-4d63-bbb9-364f6661decb CLINVAR:55421 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7b5f787-213e-469a-bdc0-5a889d623699 CLINVAR:55421 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a0882e3-dc3b-453a-ace3-1463a6cd234b CLINVAR:55420 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb3190a4-b740-4693-833d-10bafa959a9b CLINVAR:55420 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8863c09d-9df1-4190-97b3-d0503def1abf CLINVAR:141091 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb855afe-27c1-4af2-91f4-941a932e3598 CLINVAR:141091 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f465c32-35b0-45f8-ab32-33471a7bf473 CLINVAR:417833 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de55c56a-7e03-4c29-9bb5-5ffff0e58e49 CLINVAR:417833 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0dba904c-d653-41c5-9d83-ee3e14949d5e CLINVAR:55367 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f335ed27-f2fe-455c-947b-30eab3646ebf CLINVAR:55367 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d110a8d5-c067-4ad7-a8b0-9a175da8629c CLINVAR:266514 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8766f0d5-e243-4f44-be60-588368879302 CLINVAR:266514 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0da11aa-283c-4ec4-a464-69a01be5d15a CLINVAR:266508 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a957eb12-123a-4ad4-9c43-079dd38b8607 CLINVAR:266508 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel afbfedbc-a1d2-4834-8b85-a7bcbdb78d71 CLINVAR:55329 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 107315d9-2d4c-4ea0-a78b-542a8fa00fb0 CLINVAR:55329 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 822aac30-8b1d-479d-b649-adbf7acd7b2e CLINVAR:55323 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e64263e-d96d-403f-ba47-f4ac098fdb4a CLINVAR:55323 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97a5dfb3-e3f4-4b15-be04-0d16190efd5c CLINVAR:55324 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 446caa78-070c-4984-9057-7926310e206f CLINVAR:55324 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85832b93-592a-4a36-9f12-7927da3d7de2 CLINVAR:216107 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 505c0e4f-06bf-455c-9a1a-ca127352a009 CLINVAR:216107 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68499551-abc7-4e09-a06f-0c94dbe8f302 CLINVAR:55308 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c93a714-2b7c-4e68-9419-4c9d7ffc7179 CLINVAR:55308 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89256d1f-736a-47ff-8a95-c88d77e5fbbf CLINVAR:266497 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95d3cd4e-9b40-4549-89ec-7b9eb9cf1d6a CLINVAR:266497 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2bf3de87-c7ce-4f66-a161-ecdcabae5dc3 CLINVAR:55304 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 599d5d6f-e163-45ba-9c43-d68bc5ef75d4 CLINVAR:55304 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04ece16d-d25f-4a8f-8a52-c5cc81e14a84 CLINVAR:140998 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2593b6f1-34db-4668-890d-62144e313b84 CLINVAR:140998 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5abd4813-5ade-4f46-b311-d9c8d383ff11 CLINVAR:55267 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a415f41-be2e-4bcf-9e43-e27e534fd65f CLINVAR:55267 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a348fde8-cc3b-4d8e-86b7-c25f3ecdaf46 CLINVAR:254377 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4021a874-ec26-459a-96f2-ad39bd1214d7 CLINVAR:254377 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26c9b7a7-4eea-4771-b8e5-b222a7c28bf3 CLINVAR:37608 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf071522-f8fa-445a-8680-fb12a1d6c342 CLINVAR:37608 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4e215aa-f3ee-4444-bab1-7340a7f8bb0f CLINVAR:409363 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcf0f3db-e873-47d9-8ad4-2fbe580f9830 CLINVAR:409363 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54ba25a2-6648-472b-8e1e-02cc02ace314 CLINVAR:37602 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7effbd4a-1e1f-4cf1-97ae-ac1f9422f9ff CLINVAR:37602 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fc41db64-847e-4526-82c9-1bfc5c4ef221 CLINVAR:254376 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bbb6046-64ed-40b9-b1c3-eb06df8d7479 CLINVAR:254376 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72e7ad92-0e0b-4d94-8db6-f85e74f7ec11 CLINVAR:254375 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d335a70-b8d0-4b14-b303-a7034ce39756 CLINVAR:254375 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ccf6293-5557-4685-9e48-14c01a276760 CLINVAR:55248 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c10e694-26ac-4aad-b2a1-1d70e7b2ad9b CLINVAR:55248 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bca078eb-8a0d-48a8-953d-27a2c9c42c78 CLINVAR:55232 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f08d8a69-a5cc-4038-8dbf-c690dfba8f12 CLINVAR:55232 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel acfc2924-6f0f-410b-a2f9-07f8b38a8193 CLINVAR:125874 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d613541-4573-49f2-a8d4-fb47e4cb3e6a CLINVAR:125874 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14fc2e0c-540f-4ab6-8656-1e68c8162fcd CLINVAR:232543 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd29c4a4-6476-41fe-b51d-6a30aa119cb5 CLINVAR:232543 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01a3792d-7abc-4466-b3ee-7ad90eb181de CLINVAR:409302 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ddbeb8f-5d54-4d73-b74e-ee005f9cb73f CLINVAR:409302 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a10e786-9eec-4300-a854-c2715efb3af3 CLINVAR:417828 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d04582d0-2c2b-455f-9a6b-63d5802703d0 CLINVAR:417828 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3aa9ef7a-1a78-45b1-8352-84d52ab5064c CLINVAR:246362 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad4b18f5-0c2a-4495-bac6-c6c17c0222b1 CLINVAR:246362 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c02afc2-0e97-450b-807e-c89f84d175bc CLINVAR:236261 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dac52c45-93eb-4a47-b302-29d8446f0d0b CLINVAR:236261 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6458e7d8-c9b8-421c-bf38-8c22d4cad17c CLINVAR:55186 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c5ab65b-b6ac-4059-9bfb-ba05d8bce2ad CLINVAR:55186 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb06b3e6-ad27-4449-9987-555e721966a5 CLINVAR:266469 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15e7a68e-31ea-4445-a5ac-521bf6794381 CLINVAR:266469 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da7e0049-0389-49f8-ba7f-56e541d3e565 CLINVAR:55167 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5c7121f-c1ee-458c-ad8d-6c6039bf8f8d CLINVAR:55167 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2e8fc72-17b3-487e-a35f-570af8d4b93c CLINVAR:37581 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0448fe53-f2c9-4b0a-acbd-dd7f8a8e5742 CLINVAR:37581 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa19eb88-6472-4946-9e1f-47c8fc6ea3a8 CLINVAR:266455 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 231704e3-4c06-4286-9d07-9605f8afe3ee CLINVAR:266455 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fdc2481b-e422-4405-b942-7d2d9c883de8 CLINVAR:55109 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dba7f9ba-4c0f-4e23-98fc-1e3945115eb8 CLINVAR:55109 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99d52282-bef5-489e-bba5-cf44e57ffde8 CLINVAR:187048 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a1e2cf7-8577-472c-b7d9-d346e1228db8 CLINVAR:187048 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 231b59f9-f812-44f0-acb4-ac9fafafc952 CLINVAR:55114 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77a37503-04de-4261-9283-0f4d702b390d CLINVAR:55114 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3916356b-e8d7-4d76-aee0-320f661fa87b CLINVAR:266445 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2904820-d934-4abc-8523-8e845f4a6423 CLINVAR:266445 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 035ae206-c292-42c9-90e2-9337633923f2 CLINVAR:441309 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbf30720-bd38-4008-9865-8fc8e70c1a31 CLINVAR:441309 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a0313eb-7cce-4f8d-9741-33e51eac6e89 CLINVAR:266447 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar badb2368-adf7-44d0-960d-67906f3608c3 CLINVAR:266447 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51d0d6a2-ec64-4805-8153-603421e035bc CLINVAR:266442 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c13aa6c-5e13-4136-aaba-61d6a697d548 CLINVAR:266442 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf4142bd-b747-4c86-bf0d-95e5cc4262ab CLINVAR:55095 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4279dce0-c170-48fc-8205-0957bb031077 CLINVAR:55095 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9b393ec-36dd-456c-b8a8-047b66f4a481 CLINVAR:266438 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6601d79c-ee3c-4a1e-8886-15b7960c361f CLINVAR:266438 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47a966d0-0c6b-485b-a987-4a36696b8cb4 CLINVAR:252876 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2c7e118-bbf8-4598-afd1-d3478c66b1b1 CLINVAR:252876 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 70f284a6-d733-4be3-866c-b262aab07980 CLINVAR:55071 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08468c9d-96d7-443b-90c7-6d2d6bf3bf0c CLINVAR:55071 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e00aa3f2-6c90-443a-9759-c7576637e1bd CLINVAR:254374 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 192f0bf8-e2a3-41b7-898a-d51ccac97494 CLINVAR:254374 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 12879385-93cc-4042-8ec5-f8e9b1b94781 CLINVAR:55050 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46a05212-8e6c-4bc3-9810-ebc31782f0d7 CLINVAR:55050 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7be5045c-34fe-4c41-95f9-348fc0b3b75f CLINVAR:254373 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f16c06a-7f90-445f-b57d-ef34f9500bd4 CLINVAR:254373 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7b880d6-6dc5-4582-ab40-166a9aedcdc6 CLINVAR:55046 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc60f266-18c1-45a3-8e3e-8a1a77817bb7 CLINVAR:55046 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3b5ef71-caa1-4d71-ac71-c482970ec0c7 CLINVAR:431198 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d56b9b0a-16a8-4d31-8fc5-7787c6286ca8 CLINVAR:431198 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 73703c5d-8b2e-4ffa-aa86-8c8a08bb5806 CLINVAR:266411 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e0c9ca9-3394-4800-a6a9-df3bbcc09de5 CLINVAR:266411 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c684e04a-1bd6-46f9-957d-e44556fa62cb CLINVAR:548289 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea269d01-3685-4b27-b5bd-ba78ee3e9e45 CLINVAR:548289 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1380f2e-4d1f-42d5-9711-f2691e1073e5 CLINVAR:427022 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8570f77d-fc99-4439-86ac-1e0b5c1ef68c CLINVAR:427022 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36a03acd-2b0a-4302-8a9c-f1cb44c8c367 CLINVAR:54993 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40f0f5d6-049a-407e-aaba-818d0d6a809a CLINVAR:54993 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3acc7baf-2f56-4fe6-84b8-dbc46b5afc0b CLINVAR:266400 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23a8dfc7-99db-4053-a388-0cf222219cfb CLINVAR:266400 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60959210-a826-4d45-a939-6bd1222498b2 CLINVAR:96914 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14c82124-0979-4bf8-b3df-c8715e8ba943 CLINVAR:96914 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58d5f883-ddc4-4de6-a0a0-ebc6a6c52e18 CLINVAR:266395 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65320abc-a5ca-4c06-a7ef-1f23687e2911 CLINVAR:266395 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43d13780-51bf-4a9c-bb56-cc427d46a43e CLINVAR:266393 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8bdddfa-a7dd-4c4e-9f97-98ac3b15098a CLINVAR:266393 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4c50b8a-a0e7-4ce0-b85e-37343e71c163 CLINVAR:266385 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0190111-6c59-4310-8a55-595812513ab9 CLINVAR:266385 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 32404eb9-0088-4bc3-aa59-7176c04f957d CLINVAR:266383 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20d71e35-039f-4191-98eb-e07266642f3e CLINVAR:266383 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c8b5ce6-fc62-4e41-9717-c66dbb032de7 CLINVAR:252400 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8dbb8de-bcc7-4552-86e4-89aabc0ec372 CLINVAR:252400 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55fe1458-7e3a-40e0-9532-e937127e8dfc CLINVAR:54882 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22eac9f0-3288-4e50-87af-ce357966271c CLINVAR:54882 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f281f53-6d66-498a-8aff-1f69023a2385 CLINVAR:266370 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56b4eaee-e870-4446-a7ee-1e6f8d0c7562 CLINVAR:266370 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1540028-ca22-4953-b871-f7cbfcb41e1b CLINVAR:142716 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 171385d0-5a43-4604-89fa-eff16359f0fe CLINVAR:142716 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0788ea4-41aa-4d99-af81-ccf0732653b1 CLINVAR:548240 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e84bce4-1f68-4f69-b1da-14e5f1d00f96 CLINVAR:548240 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel be27a633-21a3-4251-a33a-dcc760162a5f CLINVAR:266359 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 050dc593-88f9-4795-9c42-2ac150d0db39 CLINVAR:266359 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3fa671ea-3660-4940-8930-f2cb183c382b CLINVAR:266354 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2bceee0a-9e99-4668-b725-0e54a2f86238 CLINVAR:266354 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28a860d7-7fea-49b4-9a12-2b48179a1213 CLINVAR:266352 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2509a42-3e78-4aa1-a3e2-3a520349de5d CLINVAR:266352 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a4501f1-a9fa-470d-adda-5c76ddba210e CLINVAR:54826 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df2833f2-31e4-458b-8606-71d7cdae494c CLINVAR:54826 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15a5735e-20a5-4b87-91c4-178814cbd0ca CLINVAR:54827 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51a7348d-5c1f-4b85-a39d-582eb96ab9da CLINVAR:54827 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dac16276-b05a-4104-a8b0-09906856be30 CLINVAR:37521 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2edb1be3-e233-4538-9e43-672815143708 CLINVAR:37521 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e1c0a9f-b773-41d4-9502-ffad38b25328 CLINVAR:54799 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dedc04f0-b347-4dca-9d1c-09948072dab4 CLINVAR:54799 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e9fae8f-9472-426b-bd89-f45c5ebb0e15 CLINVAR:54791 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d55e2ac6-36fb-41f5-9ff3-2710c9c79243 CLINVAR:54791 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1000a38b-c2de-4694-aefd-a24bc7571d62 CLINVAR:418681 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8eb31356-012d-4add-b748-1c51880aa662 CLINVAR:418681 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 154be085-bc5a-4469-9689-57790634d609 CLINVAR:266335 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbf9f8d5-de2d-4a3d-95b2-44ca09fbfc78 CLINVAR:266335 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 236adfc8-aae3-4f5b-bb7f-68a315f32ca6 CLINVAR:54758 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab9942e1-72ab-4413-a344-87a7ba08c914 CLINVAR:54758 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f1e98f9-4270-4a5f-9784-ef70852b8ad6 CLINVAR:266331 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7268beff-dd91-489a-a655-bf1a0cdc8c2f CLINVAR:266331 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56e4bd51-b478-4011-a5f6-637b984066cd CLINVAR:54751 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01e655c6-7b1b-4df7-9ee5-7f8746fdcff6 CLINVAR:54751 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38722c13-18de-4542-8aab-7c081ae3e84e CLINVAR:54753 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3f400c2-5c87-4717-bf2b-ef5135fa7d44 CLINVAR:54753 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 418e3783-0d9b-429c-b055-d833d0afe2b8 CLINVAR:54712 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16bc18ca-54f6-4942-bbab-73b3034dfb24 CLINVAR:54712 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7066e7d-fd54-453d-9d20-e445cd11e8a1 CLINVAR:54704 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e91351c-46b1-4c75-a898-798a42e55737 CLINVAR:54704 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel acc37bc4-b931-462b-adb3-120c46ca2ed1 CLINVAR:54652 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b03c9e25-97fc-46d7-a70a-b8665c703f2b CLINVAR:54652 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44d53000-8031-48b6-96fc-d895c86d12d9 CLINVAR:254372 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db3c68e5-06c1-4463-9691-43e841634551 CLINVAR:254372 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06015fb8-7776-498f-9138-9a7b088771cc CLINVAR:156189 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3304b0c-aeb7-42f9-a400-ea10c770bd19 CLINVAR:156189 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad9032eb-c284-4c51-bd1e-18fc07535f5e CLINVAR:266284 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1491fd4-010a-4ff2-96ab-935459cd8ca0 CLINVAR:266284 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 158bbed3-592c-4994-8366-5568d8500d31 CLINVAR:91588 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dbff604-f4e7-435c-b2d8-298eb09d6ee9 CLINVAR:91588 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fae9fe86-c8ce-4ceb-bb7d-126e0f995528 CLINVAR:91591 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8e04d8f-3bd8-4148-8227-ccee94b70adf CLINVAR:91591 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ccd25428-4856-4cbd-ad42-89771d7f9d08 CLINVAR:266264 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24507c65-731e-4422-a4e6-9219c679b1ec CLINVAR:266264 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a29b5164-738d-46cd-aad8-51051fe3417e CLINVAR:125634 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9e649be-8b63-4aaf-a527-af2d66e39183 CLINVAR:125634 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7780c78-2e18-43d3-a6e1-00a9712d36dd CLINVAR:54565 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fbdacb4-31ad-4959-aa95-50333d3d3164 CLINVAR:54565 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d332b1f5-6240-4bd3-b556-d26bce4c097e CLINVAR:266257 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23f1dd07-3b1d-4dbd-ad25-df3548ef2663 CLINVAR:266257 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c954f4e-e0f0-4ef2-96bd-c44b070ae54c CLINVAR:266255 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0c516c1-4028-4e7d-8216-8762c3bfd02e CLINVAR:266255 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 472b21ff-a7fe-40f5-ac80-93b3ef94fabd CLINVAR:54537 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e169dbe-1842-4b2c-bf36-173466c70626 CLINVAR:54537 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05b86beb-9974-4eb0-8bcc-3ee0d98d320e CLINVAR:54530 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9659fdd3-2a88-4176-b6cb-36032e0cff99 CLINVAR:54530 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93e3fd9c-c205-49c0-9872-8961e34ebff7 CLINVAR:54514 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc8d43dd-7131-4d3a-a24c-92c08727ad1d CLINVAR:54514 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc6bfa7a-3584-43dc-94b5-f2fbcbea027d CLINVAR:54499 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 452812a0-5be9-4faf-9c7a-fbeb9fc918bc CLINVAR:54499 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 94856645-3f26-4695-9dd3-d4515bcd6e56 CLINVAR:37450 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ec4e25f-466a-48b9-b9e6-27bfd16c8055 CLINVAR:37450 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a3ad600d-d78a-4d78-ade0-676d1b45c217 CLINVAR:54467 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f13ef76-e5d7-426f-9f23-aa3901937d52 CLINVAR:54467 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6010a7d1-9898-40e7-b19b-b3504548fa7a CLINVAR:54465 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d85450c-4d68-49be-8145-f5e1e54d8e3f CLINVAR:54465 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8651eb31-2283-454a-99f2-cc5de674aaba CLINVAR:37446 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4630e0ae-33a0-4795-9689-d3495353d9ef CLINVAR:37446 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d425d142-8c29-4374-99ea-1b53a6620560 CLINVAR:54463 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6547a5aa-579e-47ce-b9c7-81f7969a4bcf CLINVAR:54463 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3d3b28b-26f6-49ba-ac15-c82471556a5e CLINVAR:254371 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9f0c246-effc-4e28-96da-cbd073c0e8a3 CLINVAR:254371 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1860f31a-85c4-41ba-8fdf-fbc73d46b43a CLINVAR:266198 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5b0fb02-a064-49db-85bb-402eda2c0ed3 CLINVAR:266198 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cbfee41f-32e6-4292-98d5-4389bb12e372 CLINVAR:17693 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f76cf3f-99ce-4cea-bb97-195c23b13cca CLINVAR:17693 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c82269b-16fc-48a6-89d0-a66e489c5a61 CLINVAR:254370 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 470cab3a-8cfe-4edc-9135-f5542ecba21a CLINVAR:254370 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d171888-769d-45f3-8ddf-6004b03df24c CLINVAR:91573 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3927c0ad-598f-4d8a-8ab7-f8e10efe69fb CLINVAR:91573 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 69e8f4ee-802f-4da0-884a-a983b2462c19 CLINVAR:266210 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b65ede1-c089-4103-ba9e-5fb72e5e3810 CLINVAR:266210 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2aa1e86-32e3-44ab-b53c-440ca906aebb CLINVAR:54414 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79880625-fc8e-4166-b8a8-73e133808292 CLINVAR:54414 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 258c6206-7d55-44ab-858e-eb5f1cafeae1 CLINVAR:54395 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f19cad7-92fc-4b92-b515-887ea3b0f155 CLINVAR:54395 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4ac2c26-746c-4086-ba08-2fb55ed588ce CLINVAR:141286 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd8611a6-1b56-4aeb-ac13-33973000c214 CLINVAR:141286 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9ec93ca-1903-4aad-b59d-b2efb56e29f3 CLINVAR:548178 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffe597e2-825d-4682-8510-04d60220acaf CLINVAR:548178 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ee54be0-0ae3-4768-8cea-ac21c13415b1 CLINVAR:54400 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 345e3fc9-6cc0-4eba-8837-1ecd255186e4 CLINVAR:54400 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a3adba8-b1ce-45b8-8528-3e5b9092bd59 CLINVAR:54390 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce9c4199-f1e1-4fa4-9038-e876e438f04c CLINVAR:54390 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39dc838a-76cc-47b9-b793-10fef0d9b3e6 CLINVAR:548171 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cce3934-9be6-48fe-b5ce-a2b2dc1e17b0 CLINVAR:548171 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f47f674-5b54-4b80-8d65-af3b59729237 CLINVAR:54381 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8aec00e6-57a5-4d35-84b4-26a52f6f5ad9 CLINVAR:54381 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 77e1ca71-7679-479c-89e6-d237bdb1ee52 CLINVAR:548199 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9943535e-9a8a-483e-8e8d-6b43505f2555 CLINVAR:548199 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 625198a2-9719-4aa4-8812-0ab5d12c4df5 CLINVAR:54365 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4f93438-99e7-4b4a-9ba0-cd6cdcd25ff7 CLINVAR:54365 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4ca8580-2be2-4dc8-b591-7cc87d5cc0b8 CLINVAR:266191 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac1b825f-09bd-49a0-be6d-ea96032fc650 CLINVAR:266191 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ff26879-eaec-4338-8b45-dad0f807e429 CLINVAR:17661 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0d2d7e1-66f5-486b-9e1d-64b4457d6adf CLINVAR:17661 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed97c670-d36e-4f26-902e-23c618681c7e CLINVAR:266189 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58f92dca-4bc0-4ce8-b353-c7e93abf3aef CLINVAR:266189 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52812563-b8ad-4418-b834-312bc395c33d CLINVAR:54353 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56dce5dc-7f13-4234-9b04-b970e10f60e8 CLINVAR:54353 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a32cbc7b-de0c-40ab-954f-4638056bd39b CLINVAR:54350 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d47dcd71-20be-481a-963b-57b7971ce17c CLINVAR:54350 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4151145-bdfb-42be-a2de-1b1637295b43 CLINVAR:54349 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2114610a-4fb3-4cb0-906d-40b934a565b2 CLINVAR:54349 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e1269b2-f4fa-4530-aa96-0defffcbc8cd CLINVAR:266186 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16284f54-a4cc-44c5-8683-3700e95a19b6 CLINVAR:266186 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06fb2962-454d-4365-83a2-581420e70ba7 CLINVAR:266182 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10bad9fd-efb2-44a4-95c1-97a744034423 CLINVAR:266182 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a290bdf8-629e-455a-9ed5-067c56012486 CLINVAR:125589 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f7b2772-9239-4a4e-98b7-7702f4e23809 CLINVAR:125589 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 25e25efa-57af-4d07-8224-96db79dbba7f CLINVAR:254369 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 849fa5dc-357e-401d-861e-8ab2f6de10bc CLINVAR:254369 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb56e1ae-1844-4195-9926-f67f3c6e8731 CLINVAR:54308 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2985734-7551-49de-ae6d-1f02b99e435c CLINVAR:54308 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e939cb34-1130-48cc-87ca-9cb446f02009 CLINVAR:54307 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca2617d4-0eab-4734-8dbc-b5d385a54d2a CLINVAR:54307 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a61ce7c4-ee21-48d0-ae86-d0c582ba605b CLINVAR:54276 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f2a2f83-4022-4de8-a7a6-6a9208944928 CLINVAR:54276 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 96a289af-02cf-4664-acc6-bfa43c1814d4 CLINVAR:54256 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa848f2c-38bd-47fb-b341-26cdb2f65ce2 CLINVAR:54256 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 199d43c1-4fd1-43a4-bf17-6b35b91ab135 CLINVAR:37412 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e507330-504d-405f-a9c9-40bc0875e7b7 CLINVAR:37412 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9226ea00-88b8-4d53-aa14-b3398e8f1926 CLINVAR:548198 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ea937fd-5dca-4df2-bbb4-5864a2fcc59e CLINVAR:548198 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 295a2033-600f-412c-a6a2-4d7c533f05a0 CLINVAR:266165 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f498641-36b3-4687-ba09-30b410a2d13c CLINVAR:266165 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 616c0c52-6463-47c9-87af-e6fb81e92e23 CLINVAR:91553 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2f8f0f2-20c8-46ae-9986-84e203a4743a CLINVAR:91553 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f80eb8c-51a0-4044-a632-fd500d548dcd CLINVAR:125570 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac1ddc40-a71c-4226-afeb-85e66ba3cf3f CLINVAR:125570 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 14a1b287-d8c7-4e33-8204-f9f0715e4fb9 CLINVAR:54246 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b3ab11e-3dc9-4cda-add4-46a9af7dcfac CLINVAR:54246 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 041b1021-303a-4891-9c7a-64a5711a0970 CLINVAR:37404 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11b247c1-7e76-4ec8-86d2-bad48f468210 CLINVAR:37404 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d3d9f5e-b2dc-4780-ba6c-7e4053775101 CLINVAR:531302 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a17ba415-5360-410e-9b8d-d52728322d4c CLINVAR:531302 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 62865ba8-ae81-48c7-b94d-f2f6fa2337b1 CLINVAR:54208 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67cb5ebc-9418-45b0-910c-fc834df5b50f CLINVAR:54208 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ba00373-fb85-4473-8925-328fa2d9924c CLINVAR:224416 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7a340b9-75a5-4cef-9b5d-859373a9efe2 CLINVAR:224416 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 234a75ee-3a84-4f16-85b7-b28a3ac3316c CLINVAR:54200 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 171105c3-8874-4233-940b-b59a2aa6aa31 CLINVAR:54200 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e27586fc-e854-400d-b60c-1fb00cd5ce6b CLINVAR:96898 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea236984-8302-4928-bab1-9d0855a34d9c CLINVAR:96898 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6700e6ae-8673-4f5b-a1ff-b5bcfc31c280 CLINVAR:54199 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0c7b8f4-8223-4981-8d80-7aed3d11adfc CLINVAR:54199 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46d2d49a-f6be-4d72-bdbd-d358545afbb4 CLINVAR:54194 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2930fb6a-542e-4387-9bc7-d89996284109 CLINVAR:54194 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c6d7fe8e-1e04-4d32-9494-35b74e48a250 CLINVAR:54191 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78a6cee2-0517-410d-86a2-d68df6ce9cb6 CLINVAR:54191 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1bac90c-c683-4d52-be7e-523d0e8a672a CLINVAR:54173 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4eb8c5bc-65c9-4f61-9bae-3dcdef083ffa CLINVAR:54173 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89762797-ebfa-42f1-8e82-d1598ff68f03 CLINVAR:54167 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1775bf69-0544-43db-a1fb-ebd05e0d8b08 CLINVAR:54167 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 998e7642-f821-448f-a3e6-2ed1e2ed82f5 CLINVAR:230862 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9887d7a1-9473-4e14-802b-cb48d89a3e7a CLINVAR:230862 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 35c677b7-e85e-42c6-ac1c-857ea20bb5ee CLINVAR:54166 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 705847f1-95b6-478d-90a6-d7306b5cef46 CLINVAR:54166 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c661d1c9-1c0e-4b20-a908-aefb0401a455 CLINVAR:548235 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 310d20cb-9efa-4283-9280-6c8893d67562 CLINVAR:548235 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9bdde5d1-1ede-4faf-ac8f-1970e46ea1c0 CLINVAR:409353 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93ac2c0f-b4d3-4f35-ace6-1e721be08f7c CLINVAR:409353 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ab37c20f-e720-4bde-ab70-2154c2a31f3f CLINVAR:54157 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4993336-0c0e-473b-8f80-67856cdb12c3 CLINVAR:54157 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9963f977-1dfd-4089-b103-bf08034285ba CLINVAR:54152 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d2409c4-5bb3-4f8b-b5df-03f5a5d2f141 CLINVAR:54152 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87275763-263e-4ae7-98ec-3d0416d2f712 CLINVAR:54141 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df24cc70-3974-4d41-8bc0-992ed9b0487a CLINVAR:54141 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee6f23ed-4f89-4f8c-9abb-a59d4571aeff CLINVAR:54131 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e45c099-8c2b-452d-a93b-cb42de253833 CLINVAR:54131 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ae6fda8-00e1-4f50-b9ae-845e08c3c49c CLINVAR:266129 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2133036e-31e8-4d00-b0d2-01f619c66614 CLINVAR:266129 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f546d5b-2af4-4b50-9762-088edab11d3e CLINVAR:266600 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aef5e753-4b5f-45f8-83b7-eaa0f3b95674 CLINVAR:266600 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2229993-b0f4-4a07-9a75-7c6dc854c620 CLINVAR:266132 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d14243a2-f1ca-49dc-951f-424b064776f5 CLINVAR:266132 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e677f4fe-4e2c-4551-b864-26356729a5d0 CLINVAR:54103 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2bf3c9f-6510-4ba2-b127-52a4cb31222e CLINVAR:54103 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8002bdc2-4022-4e75-91b6-13ac89a40795 CLINVAR:186913 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 612e2ceb-2a5c-418c-9287-77b1630b5c12 CLINVAR:186913 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 276d384e-1b1f-4be7-aa00-5dc3a265915a CLINVAR:418671 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a8a4081-4004-4d8b-9236-d1013b601e00 CLINVAR:418671 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 315f2a1d-4e8f-4106-9657-e31adb1169e5 CLINVAR:266593 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d78fe708-27c8-4e1d-a77b-8ec1dda67076 CLINVAR:266593 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf11ab9e-0ed0-447c-8a3d-17dddb98ca9b CLINVAR:55745 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72e2afce-3ab8-48e5-b0cd-efada34024f6 CLINVAR:55745 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 536846ef-ee39-473a-99f8-88aa7d61c818 CLINVAR:37707 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8764df76-dd4a-46c3-889f-ee9aaba02c9b CLINVAR:37707 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c47f8ed0-7968-4c48-9c7d-b6128feaeb4d CLINVAR:55733 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f34cb1e-00f4-4a14-99a0-11a43f40bf58 CLINVAR:55733 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4faf500b-70b3-473a-9720-f4b1f79b48b2 CLINVAR:55718 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3893f57d-540a-4cc6-9df3-527135f39c95 CLINVAR:55718 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f99feb25-000b-407e-aa0d-014d29b955ca CLINVAR:55719 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 136d4b25-557f-4894-8156-97fda378db5c CLINVAR:55719 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 206dceb0-84d2-4db5-a92f-84a1c63ab57c CLINVAR:125519 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20a7875a-f98a-44a1-9b95-2a4cb89b92c1 CLINVAR:125519 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d00a13a6-60f6-4cdf-9cd5-9602d32be5e6 CLINVAR:55676 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5cd2dbe-58b0-4f72-8c74-ad8fa721fa85 CLINVAR:55676 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 972a5163-45a2-4712-8701-4eeb2f5f06e0 CLINVAR:254368 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd4582ae-6559-4d48-ac38-d52ce4133690 CLINVAR:254368 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0ebc8a3-8341-4472-a9d0-7f5fb4aa3856 CLINVAR:232955 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8cedc3b-82ba-4925-aacf-bcaa5378b3c5 CLINVAR:232955 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 79c75ccd-f1df-4830-828d-38120c7dab95 CLINVAR:55675 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11339529-1e27-4bed-a243-a2a33eb1e5b1 CLINVAR:55675 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4e4beb0-ba9f-4051-9e79-7f54d001ad6f CLINVAR:55680 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0cbdbaaf-78f5-4131-9330-330a833ac909 CLINVAR:55680 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ef868e9-732c-4684-a12a-09ce0012ba5b CLINVAR:548230 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e097d876-d4b7-4aff-9efd-3293d7a66a7e CLINVAR:548230 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a69c3159-b9b7-4df1-a0f4-4bc8f441c132 CLINVAR:266572 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f0baf7e-7e8d-4822-a09e-88b3d0433921 CLINVAR:266572 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 799d4fb4-beb4-4a51-bb6d-505211a48669 CLINVAR:548320 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 179ec65d-43b7-462a-a4d7-a15248121740 CLINVAR:548320 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c67b4c7-8f78-4351-8728-ec5039d32b1c CLINVAR:125512 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 684d6389-3e56-4681-8d34-c477c8cb4601 CLINVAR:125512 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 30a1bfca-121a-4459-8709-921042a025e6 CLINVAR:125511 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3bfd2c2-adec-4600-a773-6bffd8e92709 CLINVAR:125511 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76e4267c-90ed-4bec-abce-c6794ab7e47f CLINVAR:266569 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70d3a4ee-5dba-49b4-b923-f58b7584baeb CLINVAR:266569 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3d98473-cbe8-4e9c-887e-5bc18235e370 CLINVAR:55667 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 585e7ff7-0ffb-4d0f-a39c-debab4fdce25 CLINVAR:55667 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2166fbc2-f3d1-42c1-bd32-24c3a13e412d CLINVAR:17662 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85a5b686-0305-4b3a-b809-9ef2f7155d06 CLINVAR:17662 biolink:causes MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ddecce8-96b9-48ad-8edf-d6967b985097 CLINVAR:55668 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 103aac23-7ac1-4ea9-9d2a-ed1c24e3e980 CLINVAR:55668 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e2d071f-83a1-49a9-bf89-532eadce725d CLINVAR:266568 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e89bd79-7de4-4eb3-9821-4d965ce83068 CLINVAR:266568 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a063b6aa-783e-42cc-af85-4a550accb231 CLINVAR:548217 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 725954a4-a180-4e7a-a6b9-bc646f6c0c91 CLINVAR:548217 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff9af19f-e247-4d28-8752-f88b5319fb83 CLINVAR:37691 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6ffad37-1dc2-411c-b270-00f4411246e1 CLINVAR:37691 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9eaf162f-4950-4b75-a503-ed64efdc4c5b CLINVAR:236275 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbb87fba-bdd4-4d6a-a435-5a8651f83005 CLINVAR:236275 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb51cd55-ab8f-4ebe-8c8b-d9a43d9074a7 CLINVAR:254367 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72d458a7-d5c7-43e2-84ae-ce6b6a8e7796 CLINVAR:254367 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa9f31a0-d6cb-4aa0-8ba5-fab346948e10 CLINVAR:55653 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c297d45d-e10e-48ea-af23-0906b3317b21 CLINVAR:55653 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd645772-7372-472b-99b3-a83edaea16f3 CLINVAR:266566 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd2eca25-1b4a-46ec-bd50-a93f03fb55eb CLINVAR:266566 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d93cadf-279d-4d72-ac9b-a916c80ce64e CLINVAR:55656 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07fafbac-da56-4c5e-9fec-fca4efb048f0 CLINVAR:55656 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b84cade-9636-448c-a4c4-b08014c7ba5d CLINVAR:252428 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e09e96cb-8d16-451e-8391-90d3ffc5ab09 CLINVAR:252428 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd19d17a-6a35-4813-8fe7-c54e4de4ae3e CLINVAR:55651 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd3e3562-9999-489c-b01e-42b258d283f5 CLINVAR:55651 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9de924e-850c-421d-acb9-0942bbda144d CLINVAR:55649 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb0d32e9-83d8-4db6-bab7-39ba741098dd CLINVAR:55649 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82bf1e54-f7c4-4f12-b78d-c1240f4e4765 CLINVAR:55638 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f02ee8a6-5744-4c05-b2d2-bd9610881308 CLINVAR:55638 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6940d9ce-d4cd-4ec5-b15d-6905dcffc9e2 CLINVAR:37664 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23970855-be27-4a85-a198-f971380a8b20 CLINVAR:37664 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf873eba-f0bb-47c8-ad31-21ebcb8cec1b CLINVAR:254366 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ab87ef2-bba0-4401-b9f9-87e8d5fd0021 CLINVAR:254366 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af3f5bc9-7692-4c67-a21e-f78d7cc5cfde CLINVAR:266236 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97080ad1-4ada-4198-9b03-44b9ced3c171 CLINVAR:266236 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2b98303-8893-4e27-96b2-9dd60657b934 CLINVAR:125491 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94bd6f42-5b87-498e-9d61-b63db4099962 CLINVAR:125491 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e210743-76fd-4ab5-8eef-2945f45df268 CLINVAR:182100 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fdfeee2c-dd9f-4efd-be28-9a8973135435 CLINVAR:182100 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d10e1ef-d76a-422b-8c24-18b27ad41603 CLINVAR:266428 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 721cb5a1-75a3-4661-af0c-e169fb57088c CLINVAR:266428 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0609e4f9-d620-4dad-9431-de95c33dbb7e CLINVAR:266443 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9f1243a-77a3-40f5-bd73-1c192081ee66 CLINVAR:266443 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6d938be4-a17d-4804-b1fe-430dbe11de7b CLINVAR:55010 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b622aa2-4436-4ec0-a815-ba61d4b50e68 CLINVAR:55010 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b461c5fe-971f-440a-8ac0-6e1a7666156f CLINVAR:266390 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c2d0f10-f982-4281-a2f4-10cf92623807 CLINVAR:266390 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56d6ecf3-fd30-4ecf-9069-c85b17ba3492 CLINVAR:548210 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2d2fbb5-ce34-4a81-b7ba-296d7885cbd5 CLINVAR:548210 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a3a51872-0b93-4255-a0a8-611afeeec4c0 CLINVAR:54902 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e045a48-dfa1-42e2-9e88-adca61f0d8aa CLINVAR:54902 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd4133f8-b6d3-4b1e-b4f5-c8b3eea6f69f CLINVAR:54829 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f427b959-ba5e-4b56-baf0-644048893712 CLINVAR:54829 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eed09cb2-5674-4224-80f0-b77ccf64399c CLINVAR:245973 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb625794-2cb7-4393-aece-7fb05017f7f5 CLINVAR:245973 biolink:associated_with_increased_likelihood_of MONDO:0700268 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 080aee65-7a9d-4393-96a4-16789e8210d0 CLINVAR:548163 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 606983e2-5362-4599-b756-c9140ae6dc17 CLINVAR:548163 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b8f18ca-7a99-4757-b1bd-bd5897bfea83 CLINVAR:55746 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c163bda9-60b5-40a2-b72f-45bd49d7c846 CLINVAR:55746 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15950b12-553f-4402-b777-03b84dbe0992 CLINVAR:55072 biolink:is_sequence_variant_of NCBIGene:672 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd936862-f403-4840-a145-45c567ad2c31 CLINVAR:55072 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ac6be50-9518-48d5-81be-b0d59ad6ca4c CLINVAR:952996 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96b34e39-1a31-468a-a940-196a07ce3582 CLINVAR:952996 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1afd52d2-0b02-4b2d-9972-f803ca34b649 CLINVAR:1691488 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c0aaa54-89f0-4d79-94d3-0f60fcdb349d CLINVAR:1691488 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8a792323-2545-447a-83d9-53da190f6984 CLINVAR:1879040 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0ace253-3868-4b2a-9f1c-661a39dad512 CLINVAR:1879040 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8bb1aacf-c7cb-44af-b79b-9daf453ecc0c CLINVAR:1879037 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2ddffb2-256a-4193-ab99-32bdea176351 CLINVAR:1879037 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4477a816-e4d0-47f3-a7c9-b148fd480b20 CLINVAR:627296 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96651e6f-c84c-4c3e-915a-a6b95ae56b7a CLINVAR:627296 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 52ca8c9f-f533-40f2-ae7a-a76acaa3a6e4 CLINVAR:1691471 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa541b68-4789-477f-801e-1b2ae3dec6b7 CLINVAR:1691471 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43b74293-1d31-446b-b7be-099f7ab80e06 CLINVAR:996167 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2cafbf94-714b-4643-b896-c56b9c4135c1 CLINVAR:996167 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 53358f36-080d-4585-8e0b-cd9cd1e6cbb0 CLINVAR:3391415 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f350bf85-97ef-47ec-801a-1153a7bd5609 CLINVAR:3391415 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8fa10a5-136a-4078-9e0e-6f8bd167b186 CLINVAR:2498365 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0caf5bff-1d2e-4cf9-ae32-e89e692989a7 CLINVAR:2498365 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df914053-172a-4639-9901-8c2d6e3f67dc CLINVAR:977130 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 442e5b3d-97f4-412c-a235-6095910de425 CLINVAR:977130 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ea7f07a-77d6-4fc0-a0b8-e3497e129d02 CLINVAR:953039 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1a7e3a4-1c45-4bf2-9685-10da53638f26 CLINVAR:953039 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0d8f9950-0031-48a4-9360-93040654587b CLINVAR:953057 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12d74410-1147-46ab-8b9e-942620b043ae CLINVAR:953057 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3243ce88-376b-428b-8fbe-adf56b7bce11 CLINVAR:1330320 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56b0f3b1-7d3f-400a-b645-905d45cf3a4e CLINVAR:1330320 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f27ef4ef-7abc-4c9a-a8e0-f5ffa5f45180 CLINVAR:952998 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29c0db0a-ba92-4fdc-a81d-ad9f6fb6f113 CLINVAR:952998 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ba776b49-a891-4933-9393-93998e9fb6a6 CLINVAR:381747 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2adf89e-7d51-4440-b3a6-0f85d9655043 CLINVAR:381747 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 570050ed-ddc4-49a6-a945-9364a0daa092 CLINVAR:2498349 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c92346f2-662c-4f09-b7a9-30f1ceab0dce CLINVAR:2498349 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 617ca6db-b07b-4377-a749-f1e05fb4d814 CLINVAR:953016 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1e0ba1a-71a7-4eec-be72-ecb9fa286bb3 CLINVAR:953016 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce471937-c1b1-485f-b5e6-2e0316458271 CLINVAR:1330312 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec9f9b89-98cb-411f-a6a9-96e82fc35e7a CLINVAR:1330312 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b534305b-ca1d-4d65-9165-4e304e27f892 CLINVAR:953019 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84e8ce18-0a83-4936-91ea-00a1805e2039 CLINVAR:953019 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11d95786-2147-48d4-830e-6928e32464e7 CLINVAR:953045 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76b8df52-5536-45ba-85bd-494a396fc779 CLINVAR:953045 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e0f3e8a-27b3-4b04-8af2-58f0d2d70674 CLINVAR:1210173 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec299193-ce12-44b4-955e-44b39e334a48 CLINVAR:1210173 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9bcc003b-05c2-47a6-8285-37dd10b80530 CLINVAR:1691485 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d85cdb9a-0743-4e90-bd1c-148e672b0d37 CLINVAR:1691485 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 832a606f-b14c-45b9-9d0e-eda0b1c24e16 CLINVAR:627052 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4546ef5e-eed5-4bb0-b8fc-4a42f382846d CLINVAR:627052 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8dbbabe5-73f2-47f4-b0ca-feca38279b59 CLINVAR:952997 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54cd71f3-1629-4c4d-bcc0-ab5b09299f25 CLINVAR:952997 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 39253106-8e6b-4871-993d-faacba6c6d35 CLINVAR:3242397 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bfc8bff-6cc1-4d98-8fb7-f68b1a96d133 CLINVAR:3242397 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a23954cf-371b-48dc-ae54-3382793706ff CLINVAR:4088266 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac440e80-d757-40ad-b461-d31fd8badd9a CLINVAR:4088266 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16791b77-b095-4e80-b8c0-8f7f22f3efc2 CLINVAR:996165 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa25bbc7-81c9-44d1-a920-d5b53b386eb7 CLINVAR:996165 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6552b62a-e9df-450f-be05-7e37d1a95ec0 CLINVAR:1691475 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbbe0e8f-8b52-4cb8-bb59-756b52704195 CLINVAR:1691475 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd73ef30-8369-431d-82cd-027a347bbcef CLINVAR:996173 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7fc28df6-d658-4578-aca4-f25e0845ba1e CLINVAR:996173 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0fda7e8c-1553-4f09-a8b5-5cdaedb4c23d CLINVAR:1879058 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 879894bb-8429-4a61-8088-b5932f5f8caf CLINVAR:1879058 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0b7c7ec-386f-4a73-8e3c-cd0115fc4c79 CLINVAR:1691473 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c0cc940-45a2-4c29-8037-afbf2302c1f4 CLINVAR:1691473 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ed8afa6-9abd-4323-bfc5-c886526d4227 CLINVAR:3242392 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d63db956-7851-488a-a526-78b281ab5a5b CLINVAR:3242392 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b816757b-29a0-481a-b8b7-1318dffeed5b CLINVAR:953054 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96abb52a-5922-44de-b0e8-f88eb052d440 CLINVAR:953054 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ce7fad8-2fc8-4a21-9c21-e9847d7f2c45 CLINVAR:996203 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56c997db-7626-4ddc-8d87-1b00152ab2b1 CLINVAR:996203 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fda65505-3f35-4c75-8e95-7ea5d9dad3b1 CLINVAR:996158 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0738d99c-d55a-44cf-8278-25e1491743c2 CLINVAR:996158 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 39a5f353-047f-4de6-b0a1-77b0eb785ddb CLINVAR:1210193 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14a1c5cc-2472-4e9d-b613-85146afeba61 CLINVAR:1210193 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f125d3ad-4d61-4317-98fd-c38ada1049c5 CLINVAR:2893 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d566d526-39eb-47c3-90ae-ad8e280e62e0 CLINVAR:2893 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2956f123-6245-4635-b681-59386319c9c9 CLINVAR:1691486 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a4f3f5e-edb9-45f5-8896-82d30ae88d7a CLINVAR:1691486 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f8cabde-2103-4899-bb48-5e8360d2b141 CLINVAR:1879052 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7eaf062-b2c2-474c-8ac9-8a320faf855f CLINVAR:1879052 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78108392-607d-43c4-8902-155341d8068e CLINVAR:996192 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1856f83-5dfa-4f30-8194-b340489f981b CLINVAR:996192 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2ec7c0d-c83d-4ea5-bffa-9150c61f2ae8 CLINVAR:2506404 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d4e9b2b-ac31-49aa-b84d-bf3d878e10d7 CLINVAR:2506404 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 869f9629-2e70-4ddc-8cba-183f95b26583 CLINVAR:2674650 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cdb9ace-b828-45ba-8d6b-f3df2ad55474 CLINVAR:2674650 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e617a3ea-a2d9-4007-80ea-a77e08774bd1 CLINVAR:996181 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f148a477-86ba-4f4b-a7e7-2c7918e88575 CLINVAR:996181 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e9bd537d-1452-4210-8478-b14f9f1c9f83 CLINVAR:1210207 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a22915a9-50bf-4eb0-a13d-9179c3b3ae15 CLINVAR:1210207 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4477153-a09a-41fc-a1bd-b41a1c703725 CLINVAR:2506406 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb1c924e-8f5b-4b6a-98ae-378547ebd590 CLINVAR:2506406 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa88778e-9c77-4bb6-9f4b-88f37f8d4477 CLINVAR:1330319 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51ae179c-d695-4794-a24d-3be2e652dd93 CLINVAR:1330319 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7e1e0ec-9cd0-4cf2-94fe-aa86cc1e9d0b CLINVAR:977129 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8648165e-af48-4114-8070-e728b7c7b78e CLINVAR:977129 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7b718a19-96b8-4e31-9b5d-fcca4d75c83e CLINVAR:1691458 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2cfe3747-0916-4722-a1bd-f4df55fd0fdc CLINVAR:1691458 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a6f0dfc3-6113-4b86-838f-145257f3af06 CLINVAR:1330347 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a11ae32d-83be-4e17-8eb2-a822956ca0e9 CLINVAR:1330347 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60c21927-837b-4c8e-a939-b4287de12503 CLINVAR:2498359 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de87d6a3-87e9-44ec-a642-8db4d27d19e9 CLINVAR:2498359 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e491c7d3-fa01-498d-852d-dbcad10bfd48 CLINVAR:1879023 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ee23da2-7b8e-4e97-b69a-c0ce134ac39b CLINVAR:1879023 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d6d2e74-cf06-4283-82fa-c7fce64f91b9 CLINVAR:1879050 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35b101ea-f20b-4086-bd2d-db7847b49cc0 CLINVAR:1879050 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a182ff76-1888-403d-9bfd-79948b8bb516 CLINVAR:1210179 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94ab100c-8c37-4174-954e-57ad9b6af97a CLINVAR:1210179 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6aeb70c-2d63-4774-bdeb-cf99f7c3c1aa CLINVAR:626927 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5aa60577-738e-4695-8dc9-c5a9c27a2e55 CLINVAR:626927 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a76b316c-f785-4b4f-aedc-37eb39f485f7 CLINVAR:1691468 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3717f174-8fec-4e1c-a056-628c70cf960c CLINVAR:1691468 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dcc7395f-3c77-433a-bc91-3ca5adb6c8a2 CLINVAR:225393 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e6f52e8-514f-4d0e-8453-7cfb813e2cf9 CLINVAR:225393 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1f9015c-c50b-4c80-8993-70db7a903256 CLINVAR:1691462 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a813402-fbad-4a79-8685-5839acbdd8d3 CLINVAR:1691462 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 394ebe9d-ad08-47fe-9597-4ce295b538e7 CLINVAR:953038 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf164040-f751-46df-a002-a734808d9885 CLINVAR:953038 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4d433f2d-ddf1-4520-8883-f26c91298ee9 CLINVAR:1879049 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20dfc669-1cc9-4622-8ce2-dc3c7634ebb2 CLINVAR:1879049 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23305b09-5147-456f-be5d-0ee0657a0615 CLINVAR:996211 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac12666d-7609-44e4-aa21-d14e77e41c20 CLINVAR:996211 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ca17219-d810-4349-90c5-679afb8dda93 CLINVAR:1684321 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27f7e5b0-2179-4996-93cb-b2e0c63f13d7 CLINVAR:1684321 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bad628f7-599c-4c2e-8535-0ccfd010320b CLINVAR:1330343 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4dd7905c-f12f-4f8f-aa26-1fbc3e81a4f0 CLINVAR:1330343 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b917e2cd-a516-4e06-bfe9-ced19a32f9ac CLINVAR:1684322 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 770930d8-ce77-465c-a234-d0cb84fc9ba6 CLINVAR:1684322 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 89914668-fcae-4fa6-bd4d-91c648237894 CLINVAR:953023 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b105b9ae-dfeb-4479-8477-34c273efdefa CLINVAR:953023 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b995acde-1fc5-4e19-acc7-f208bf319989 CLINVAR:1691477 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8303bb80-bc92-431b-84c0-70bab425ff4f CLINVAR:1691477 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5e39e298-8e90-4faf-bee0-f16b8310da90 CLINVAR:627273 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae1ec7e9-af71-461b-b816-bcd53a0d8de9 CLINVAR:627273 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ddb8fadb-c097-4348-92ad-88975e5426c2 CLINVAR:953058 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13019d14-2536-41e8-8454-a6f2ec63fd98 CLINVAR:953058 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fdc2456d-fb63-4337-b8da-538a31291c11 CLINVAR:1691455 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f50d9caf-66fa-4ddd-b08d-b38e5e05bf55 CLINVAR:1691455 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9606ae32-01c8-4e89-ba4d-247685f5eab7 CLINVAR:458368 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29c9c838-3863-48dd-823a-c49faee1fb42 CLINVAR:458368 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a8acfc5-336b-4478-b6e8-46e81553950c CLINVAR:1210185 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1e4a070-79c0-406c-a6b4-2d0583c826d8 CLINVAR:1210185 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 61411832-3066-44c3-82d2-31b7ba279a6e CLINVAR:1210172 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 866c5297-778c-418c-b86b-336b54d6f41d CLINVAR:1210172 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 131a66ad-807c-4495-813a-444afd32a28b CLINVAR:1210190 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3407c68-f625-46af-afc0-1c3f764f914c CLINVAR:1210190 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c909068-d7e4-4ea2-b1c9-c35958c086a9 CLINVAR:1879026 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7165fbd-6b4b-4d67-854f-5ccb39736c04 CLINVAR:1879026 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c54182a-c1d1-4bd6-9c59-398f89adc953 CLINVAR:1330328 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bbca444a-bed9-48eb-8768-4864b4cecdb6 CLINVAR:1330328 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fbfd9b51-1b9f-4887-973b-ef5e226dee1f CLINVAR:627027 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6db5378c-e6fc-427d-9e54-18596500159d CLINVAR:627027 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c91fd982-382a-42a5-9daa-5ae2b89fc97a CLINVAR:2581087 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da29ba84-76fb-4bf4-939d-cf1e52126940 CLINVAR:2581087 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79ed2fc8-a5cb-4d3b-9cd0-9c7f8df5f30e CLINVAR:2498360 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac76280d-54b0-46e0-a87a-36d5266746a9 CLINVAR:2498360 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 71bfb557-0c9c-4478-87f1-f7c6db8ec231 CLINVAR:569057 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89deef2c-77f7-4919-831f-8e8f0838d612 CLINVAR:569057 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21f5d06a-de2d-443f-a657-55178257cab1 CLINVAR:1691469 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8292de81-bc94-44c7-b671-0d6c42a7488d CLINVAR:1691469 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64cf0fd9-51a0-4b61-be5c-1fbbced79957 CLINVAR:996206 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c5d1ef9-8922-4f51-9148-9c0af54f6af4 CLINVAR:996206 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59047e15-e4db-4e7b-b79f-a1546e20fec0 CLINVAR:1879064 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94a157e5-6c42-499f-9852-49a5f3e92b22 CLINVAR:1879064 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 539871e7-74a4-4059-b91a-577b30ba43e5 CLINVAR:953033 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e3b24af-2b97-447c-8730-a0006f2ddb65 CLINVAR:953033 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f3fd5b2-06c4-400b-a943-1b6b7bf54b47 CLINVAR:996194 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 653027d2-5ff9-482d-82a9-591095c5c8dd CLINVAR:996194 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36cdb806-a8e8-4bd1-974c-79375f3c8933 CLINVAR:2903 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcde7bcb-9856-4534-b3b7-ddf02eab4445 CLINVAR:2903 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aad60645-41cb-4bbd-9d0f-bd37b7a95873 CLINVAR:2900 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05fe3b26-53e0-4e0e-994e-7b1726158730 CLINVAR:2900 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 021e5e5c-3efd-4d8c-9afe-783261e5c9f9 CLINVAR:627020 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e306ed39-1024-46a3-a7a3-b6bb071eb8e8 CLINVAR:627020 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4511b28e-628f-4380-9366-ef1dd599cd40 CLINVAR:1879036 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb024122-d676-4457-9330-1be181c89938 CLINVAR:1879036 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a52a5f4-4b9c-41f3-8c26-f634fc37f5d2 CLINVAR:953036 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49d7339f-b6ec-4824-9a7a-4fee815f9a28 CLINVAR:953036 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a32115ee-32d7-4090-a33f-18a72a4693e2 CLINVAR:977128 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb0c17fc-8a62-4068-97ea-bd2d2435661f CLINVAR:977128 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fad5cac6-9fe7-4738-a476-0aea4edc205f CLINVAR:2892 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8de71e1-1750-4dc6-a1c9-4a8610d51870 CLINVAR:2892 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c90bd62-bbd3-45eb-bd0f-141c3c68624d CLINVAR:996196 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c40a19b-5d9b-4fd6-b989-684b1955e834 CLINVAR:996196 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07abe3f9-3673-4228-93b3-ad4ac68aa6be CLINVAR:3242402 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88302d15-cf90-49a2-b10e-7be1bd1b448e CLINVAR:3242402 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1eec2b9e-c13e-46d3-a60f-793854c915b1 CLINVAR:996210 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c67f0b4-162c-4d6f-9d73-ddd9cd52978a CLINVAR:996210 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a6ad1eb-c52c-43d1-abb9-da5b1183ca3e CLINVAR:953046 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5385667-47fb-470d-ba58-23d646e57f18 CLINVAR:953046 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c0f5700-a5fd-4a28-8822-2c6d267c2320 CLINVAR:2506417 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c70702a-38fb-4f1a-8831-f67a1172db37 CLINVAR:2506417 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 443d96f0-b510-46f9-9fb4-0e8d964ce6e8 CLINVAR:996199 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba8c1930-28e7-46fe-9f86-85ec00d43872 CLINVAR:996199 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ba6170c-b103-4490-aa87-8ddb11d9a941 CLINVAR:953031 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dff7a26f-b413-4bfd-943d-b5a3578568de CLINVAR:953031 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ddccf011-63cf-40ba-8590-3b4a0d97952d CLINVAR:953055 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f181edb7-5ca8-4302-8859-d14d61307155 CLINVAR:953055 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0055ee7-9225-4e29-a3ae-b640eab1a5b8 CLINVAR:1210196 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6cc29e1-2e80-4511-85f2-cb213d6ad50b CLINVAR:1210196 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d7396a1-6e2f-4a93-9807-de3c3ed1ef81 CLINVAR:1879063 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c54ae1d1-bdf7-44ee-af12-bf71a1cc3ec8 CLINVAR:1879063 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7873ff9b-8b55-4dfd-b1c6-c00c7660f3bc CLINVAR:1879031 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f8738b0d-6d05-4505-8914-8b107fc643f3 CLINVAR:1879031 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01592ab2-3a9f-4e34-855a-a96c93edc6c9 CLINVAR:1879013 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ae330c8-df02-4f23-a2b1-23e45a7500fd CLINVAR:1879013 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5ffc71d-a06f-4d8d-8f15-39ceacd8637b CLINVAR:1879034 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 951b0e45-c995-4c80-b6df-933bca63dec3 CLINVAR:1879034 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 92a2b495-5321-4d22-807c-b1d1239d945c CLINVAR:1879038 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddf1bdcb-ec4d-4da7-b0bf-f340a3e4bba0 CLINVAR:1879038 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00fb7c47-f49c-4aa4-a209-ac537de7565e CLINVAR:2498358 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48b359c0-bf48-493e-9b0d-c782486444f0 CLINVAR:2498358 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 79018f48-baa7-45ee-80c3-20d4db2bcb70 CLINVAR:953017 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac656f4c-e8b8-43fb-a9b2-1dbc450a227d CLINVAR:953017 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62743f33-bf14-4bf5-8a41-111628354578 CLINVAR:1803116 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6dfc480-4517-4339-939d-00aabf29b49a CLINVAR:1803116 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b8483cb-9350-4461-85f5-70262dbc0f5a CLINVAR:2895 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ca8a9ba-6fe2-4cb0-9394-34dd6370334f CLINVAR:2895 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 812a703d-d741-4557-b07f-dd29225d4206 CLINVAR:2506408 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5a3679d-5709-4e9f-afe9-f22dd81a51ce CLINVAR:2506408 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4ab9728-277e-44ba-bf2f-cc2a7f5d1e21 CLINVAR:1210197 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab2a6d51-73f8-4bc9-8e6e-a459d39f70b3 CLINVAR:1210197 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 138f91cc-718e-4455-a55f-862df8474513 CLINVAR:953002 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0dada2ad-b998-4017-924f-41aa0249737c CLINVAR:953002 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a49cc5a7-d9a1-4da2-9a62-31c3e2512670 CLINVAR:2506407 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7db007ca-6472-418d-b5a0-8997fc160283 CLINVAR:2506407 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c445c533-0682-46c6-9edc-009cb0bb49ea CLINVAR:1879055 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1467f502-8e68-4efe-938c-f64eb8cea3ba CLINVAR:1879055 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 250fb7c9-0940-48f9-a412-863ee14fab55 CLINVAR:3242400 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 379f5d6f-debf-42eb-b5d7-b1cb56f8e9c7 CLINVAR:3242400 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6a060f4-970f-4ba2-bd7e-d35b5da0bacd CLINVAR:953064 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a42b08f5-a28f-4ae3-9770-a22ed3439f51 CLINVAR:953064 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ded2342-4123-42af-8703-707479d5a47f CLINVAR:2898 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e21b71d8-6bec-40c7-8d43-16b686126f59 CLINVAR:2898 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 50f91496-8122-4997-8dbe-38543cce79e3 CLINVAR:977127 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20c4d96c-b231-4ce1-bc5c-ec91f92bb61a CLINVAR:977127 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel af5d5e0f-f7ce-4f14-9611-32d85e651536 CLINVAR:631773 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b5fe3ff-d6bd-4388-a51f-2bc442c4ad4d CLINVAR:631773 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21648ca8-7a41-4124-b472-98ce6c0af3b6 CLINVAR:3391412 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f170458-c54e-4610-8fd8-a09f1e2453aa CLINVAR:3391412 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1e7726b7-a09c-4b90-a45c-56e75ed96974 CLINVAR:691627 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a6e1923-fd08-47a0-83c4-d8e777eae644 CLINVAR:691627 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ac1a866a-78ed-4571-963a-968619b02615 CLINVAR:1691466 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba3d90b2-252e-4ac3-b5c2-aae064d91c78 CLINVAR:1691466 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ce90dbb4-a52f-43ec-95ad-86a508a4cd5d CLINVAR:381748 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 669a4df7-32f4-415e-b5f6-1e79bf997fce CLINVAR:381748 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd82b6ec-3d55-4042-a7a3-56ec9d369bcd CLINVAR:1210178 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab76106a-2166-4dbd-b8a6-b30230827702 CLINVAR:1210178 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e796ad2f-57e6-4317-82b3-11480427574a CLINVAR:1210205 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cab0532d-02ff-4c4c-a569-0dde109f69f8 CLINVAR:1210205 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dd47b8f1-5b38-4c2b-b92c-9dfd6dfaf40f CLINVAR:1879062 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8913ad7-6936-46c0-b784-c62570f01ca3 CLINVAR:1879062 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a902a31-1448-4549-a83d-8d18effcb950 CLINVAR:953004 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69599268-2ac5-4527-9461-e2b8c8567a70 CLINVAR:953004 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d38c5b2b-1823-41c4-9621-c254d585abef CLINVAR:626981 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 978c386a-2552-42f1-a536-5c3da93fa3ca CLINVAR:626981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 10e1f376-6fab-4bc5-97a9-18ce3b50e31a CLINVAR:626980 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1722140e-5673-4c07-850c-0ebca34e52f1 CLINVAR:626980 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 76062baa-69f5-42ec-9d4f-8b713a224d76 CLINVAR:1210188 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7dc9d653-aa1c-4ba0-bca3-d31d5dbc3d51 CLINVAR:1210188 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a05b6bca-7959-4bb6-bf7a-77b37c6d146f CLINVAR:996180 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6184d712-938f-4a5f-ac52-5b16112247ad CLINVAR:996180 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c7a1ae73-57a2-443e-9823-301eafee69b1 CLINVAR:627218 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a14dbb5-9c6c-4970-93e0-f975c87640e7 CLINVAR:627218 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28230991-83e1-4724-be30-02c089cd46e5 CLINVAR:1879051 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5656c562-d33f-4b00-95cd-6f4a74d1b9ac CLINVAR:1879051 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67603415-a866-4f69-afc3-6950b047af5e CLINVAR:953001 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5aaf3526-7ba6-431a-8b17-b0c17b7f1d24 CLINVAR:953001 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b58c131-0f68-4b94-a706-cf07975f38f6 CLINVAR:2896 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c76f1fc-5d8b-446e-86dc-dd7850b2d2ea CLINVAR:2896 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfdc6bbe-6bd1-4e09-90a7-6fccc81ee136 CLINVAR:1879060 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afa91c94-05f6-4f2a-8576-fe3939d05afd CLINVAR:1879060 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f88b229d-5e63-436d-b5e7-e29f447a2f14 CLINVAR:2899 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc83cf35-88e7-4f1c-9b26-1b7bd569551d CLINVAR:2899 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6287ce7-78a6-47b4-9db9-9c21a8e3694d CLINVAR:1210184 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 89f38e27-fd1c-4426-a281-b933d79136e4 CLINVAR:1210184 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7797645-7a9a-4392-8ea9-8560f2a1fd2f CLINVAR:953042 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a850f893-2f1d-4f93-99a2-1d2f9eedcb24 CLINVAR:953042 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0f9062e-4e8b-403b-bb69-4d057976f19d CLINVAR:996200 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08b44085-66e7-4458-8941-872cf2d76aad CLINVAR:996200 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 70009ec4-0061-4a03-98fa-a941b4047dba CLINVAR:812734 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e6566d2-41cd-4944-9152-911a95d50284 CLINVAR:812734 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4ab1ccbb-7cf2-4ae1-8156-5c9ac9c77ef1 CLINVAR:3391413 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53883067-cf14-4cab-a5d4-6337ed9d9376 CLINVAR:3391413 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 38209453-92de-4ccd-ab8b-2be7bb492eb9 CLINVAR:1030781 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aae6a17b-8a3f-46f2-b702-f226c72a23c8 CLINVAR:1030781 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d62e0f10-3364-4f43-a450-ccaf9d66ec13 CLINVAR:996169 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0b1f113-0c19-40f7-b357-78cf3933921f CLINVAR:996169 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 96154133-0138-4dc6-b233-c1575c0d095c CLINVAR:996170 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f15229b3-690e-4143-98bc-5044bb95ba6b CLINVAR:996170 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cd3f28b9-2d5a-49a3-b27b-c8cb33a67ec5 CLINVAR:2581082 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 011f491d-930a-4fb4-acbc-c0250682d93a CLINVAR:2581082 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3711bc6b-1e86-4ce5-ba3f-e14b74c7f348 CLINVAR:1691463 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 358dc680-c811-427c-b4dd-5a8e69332c17 CLINVAR:1691463 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3003b7c5-ee4e-4037-8501-e5fab3dedec1 CLINVAR:1879018 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d63a0c0b-6dd4-4049-bc6d-c912e4c7553f CLINVAR:1879018 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ff7c77ec-c2fc-45a8-9465-6233a6602e98 CLINVAR:996157 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d69ce06e-cfc8-4b75-868d-0cc734d5d2e6 CLINVAR:996157 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef09a46d-cc4a-44c3-9692-fbd2fc080a5c CLINVAR:1330353 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbbc10bf-b93e-40f0-bfa6-62da10d697fd CLINVAR:1330353 biolink:is_sequence_variant_of NCBIGene:130060983 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f21ffeb-decd-44df-b56c-e2f12122fb12 CLINVAR:1330353 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09aa4d7c-1e85-4e37-9854-5e160c172e9a CLINVAR:953005 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fe20fd3-b2d0-4667-aacb-122d17543516 CLINVAR:953005 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8b064644-c56a-4f2f-8985-f38b40139a5d CLINVAR:953040 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c90a49ac-98d9-4fa2-91df-1d0852b4c51b CLINVAR:953040 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 956e9d79-7db0-4a42-82b1-bb84eb50ab38 CLINVAR:1210210 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e459fc7b-a77d-4037-b06e-a2acd2c9c445 CLINVAR:1210210 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c3c5324a-f41e-4a55-8ed5-db3b10b1648e CLINVAR:1879053 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76042704-b5ed-41e4-ba13-bdf71c6bbc93 CLINVAR:1879053 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10be0486-ca1f-4dd7-9e0f-a3ad756a0a90 CLINVAR:1210182 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 500a0124-fc51-432a-8cc6-5639e2dda3d7 CLINVAR:1210182 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f0f1eaea-19b1-4b74-94b1-61db8fb53453 CLINVAR:1879035 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afe976f6-06e9-494b-b09e-85d6872ec2a2 CLINVAR:1879035 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 465b1ddb-8a9e-4c79-8914-58a7c39779a2 CLINVAR:2894 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62c0a984-6383-4b9e-9e49-179eb958477e CLINVAR:2894 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b4f5832f-d138-43fc-ad26-2a5d4226c0b0 CLINVAR:1330344 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4acbfd15-d9fd-4360-b691-204a33115812 CLINVAR:1330344 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e54e8295-cf55-4bb3-b680-7a314ce7f30f CLINVAR:953015 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a24a10f3-7cb6-4593-ba30-8317ca68a0f0 CLINVAR:953015 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ee4ae958-69d2-45ed-914e-bc6971046ba8 CLINVAR:1210191 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb40039e-ab7c-48e0-8f38-d881603c6c97 CLINVAR:1210191 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 751a4cc2-42ce-4647-b48d-4af66b509c90 CLINVAR:996191 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar daab311f-6589-401c-8991-de0a28ef4d61 CLINVAR:996191 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 98a52d51-ca5f-4645-b549-e8be316f866f CLINVAR:100811 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e24a58a-72c8-4b24-8e38-7245984e6260 CLINVAR:100811 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4a0ec60a-a54a-45b3-909e-3dde01525717 CLINVAR:1330329 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52b75998-c12e-4afb-9f23-500e48b749e9 CLINVAR:1330329 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09993d08-7c91-48c7-abe5-4b06add6702f CLINVAR:996204 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 726e14ab-6cc3-43df-9eb4-16a895f6a71c CLINVAR:996204 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9050cb96-55a9-4de6-be04-a4a02ac633ac CLINVAR:953056 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bd36cba-8b20-4e0e-ab32-34be747eb5f4 CLINVAR:953056 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1c53fe2-71ce-4f9e-b453-1e53168bacd5 CLINVAR:1330345 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7bbe8d83-67b2-4243-a1e6-f4d5e56ebb02 CLINVAR:1330345 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 51acf8fb-e791-49e5-8f0e-c488001d503d CLINVAR:1210176 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a8291cd-10c1-4aff-89cf-79ee582b8737 CLINVAR:1210176 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 27700067-7c88-470b-8526-d012ebd9e2f4 CLINVAR:1210203 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74b918a1-3ce5-48ef-85d8-1b39d82dc907 CLINVAR:1210203 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 99d3d75e-8492-4b97-ba71-95e4f3be4271 CLINVAR:2901 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 192d62ae-33ce-440c-a552-f90909a2dbee CLINVAR:2901 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2237a8fb-3ca6-412a-8a95-57510ff925c4 CLINVAR:1330346 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b372696-d670-4bc4-b003-86eb604f862d CLINVAR:1330346 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5265bdc1-a060-47bf-a055-78dc809c9b8b CLINVAR:953013 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3723f61f-ed45-4372-bcd6-ecf8163bb339 CLINVAR:953013 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c564c9ce-e145-4266-b69d-934c173a524a CLINVAR:1330317 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b45859e8-4707-466b-aee4-abf95e0fdece CLINVAR:1330317 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 359eb4ab-cc85-4b4d-9e7c-108494d5c3e6 CLINVAR:3242393 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c03b815-db77-47db-8a5b-f228c30ce7e7 CLINVAR:3242393 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a223773-4ee9-4064-81d6-0b0cdb2442c5 CLINVAR:996156 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 814539ad-bbab-4ba6-b678-396dff2a6898 CLINVAR:996156 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 90d33204-085a-4ba1-be4d-44bfeb1207da CLINVAR:2581086 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 532885f8-0dbb-4456-a2a6-628bbdbf862d CLINVAR:2581086 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3921ba35-f29e-47e1-bd1b-9ef00bfeb63d CLINVAR:3391416 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e4dd9eb-8824-4ba1-acff-f4ca1d1b3950 CLINVAR:3391416 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a3333349-932d-4ce0-93ef-28f476cd4f5a CLINVAR:952999 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0f9d0ad-ad7d-4fef-8742-a1a5d8bd8829 CLINVAR:952999 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 418c37c7-a302-4190-a35a-4ace14aea4bc CLINVAR:1330342 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7427fc19-c7ad-4e8e-a299-bcb371970026 CLINVAR:1330342 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d3b8a0c-d217-4f09-b36c-8758e16b66ef CLINVAR:996171 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1093a0a6-7a0c-4f44-9295-aa5e71a6202c CLINVAR:996171 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5ee30722-a0be-4d5b-b8f9-dbdc0d9cf75b CLINVAR:627093 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6eed64d8-e22c-46d0-866a-d3ca5e3b0784 CLINVAR:627093 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 348eb7ed-aa82-4eee-be3c-9b4b275b1c10 CLINVAR:1210195 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cf34bae-418f-43c5-83d4-1e073a0f3f9e CLINVAR:1210195 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e2d13bfd-cfad-443c-8678-e2bea3635bbf CLINVAR:952995 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6247a951-798e-4c48-98ed-14011218853a CLINVAR:952995 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e7da183e-6149-48d3-9971-fe7f877e37e8 CLINVAR:2506416 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35727a78-2bd8-4dcf-bf20-37fe0e44eb08 CLINVAR:2506416 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 339eee95-872d-4f2c-a1c0-0e9d73b5d83d CLINVAR:996195 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4125d56-a711-41c1-9f63-85fc7db32988 CLINVAR:996195 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 40a7077b-6eb1-4747-8d8e-fac31cf9f268 CLINVAR:953018 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1b68466-3559-4610-96b9-1c0e274df0c0 CLINVAR:953018 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 52f5de5c-6a58-4d0f-9abd-9385f562735d CLINVAR:953014 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca158142-a95f-44c8-a7c4-96d3f43fcae9 CLINVAR:953014 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 32027d9d-00ca-4826-8179-abba2a9bb9b6 CLINVAR:953000 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c6ce2f7-9673-4c76-ba44-09e322ad0353 CLINVAR:953000 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac954a4a-7aa0-4aab-baf3-4eadff928a97 CLINVAR:2498367 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52244e92-3cb4-4887-81c2-daf67c473b36 CLINVAR:2498367 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ed751a42-90a2-4695-8fb5-797f40be606a CLINVAR:3242403 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e657901c-51ff-4833-8646-2a371e4b1eae CLINVAR:3242403 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f52aeae6-39ad-4731-a6fb-07b80746e96c CLINVAR:953024 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc22ae2b-ec28-4309-9497-9efa6858364a CLINVAR:953024 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f69c68a8-e66d-425c-a90e-f3b06e59eec6 CLINVAR:977126 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ab10ab3-4d22-432a-9194-b6d29fcab595 CLINVAR:977126 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel db63d508-64ae-462b-bf12-70135d88f032 CLINVAR:1879033 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42808b09-efac-48a6-b6a9-0048c6cd2914 CLINVAR:1879033 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 26c8c514-ee7c-4198-83d3-154e07531fd1 CLINVAR:2498354 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad577f9f-335c-4483-9cf5-f54120d386b0 CLINVAR:2498354 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 46235107-b08a-4300-97e9-3ae838bbbc7c CLINVAR:953044 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a28ff0c-748f-4373-a7df-509723f26ad7 CLINVAR:953044 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 77690151-b83d-4144-8700-74b998d62dfb CLINVAR:1330330 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21fa11f0-f9c4-486c-898a-f2f79b2aed0f CLINVAR:1330330 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00d6db87-f632-4824-839d-5fe3a7f6e0b7 CLINVAR:1691484 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37e468df-a895-4fe0-bd18-9fc8ec56a9db CLINVAR:1691484 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1c1885ef-6322-4e5c-a613-2c1718a9f0c4 CLINVAR:2889 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e18fc81-2b76-4f66-b8b1-11a981dace22 CLINVAR:2889 biolink:is_sequence_variant_of NCBIGene:130060983 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfc0f3b3-a9f3-43d4-a6e0-12c15011215a CLINVAR:2889 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22871f93-fe1d-44a9-997a-80d527096b76 CLINVAR:1210192 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10bc6d12-f84e-4129-8db1-55fb50acc862 CLINVAR:1210192 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 25385666-c1ba-4b4f-9496-73ee72e81436 CLINVAR:854735 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4adc30d5-7277-44b5-9266-d02d9913a1ae CLINVAR:854735 biolink:is_sequence_variant_of NCBIGene:130060983 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6647efc-a387-468f-91d4-f7244b654672 CLINVAR:854735 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a4ab0048-9d9c-42e2-ba09-eb9d0f438cdf CLINVAR:627063 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55d3a9ac-366c-4c5c-b6f8-35058021aa86 CLINVAR:627063 biolink:is_sequence_variant_of NCBIGene:130060983 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f2cab1c-65ec-4491-bb1e-6ab98803b727 CLINVAR:627063 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b8ae8c1a-6c79-4e64-9d87-d368a1c25073 CLINVAR:1691478 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f846533c-fecb-442a-ae55-4b6c711c5ed4 CLINVAR:1691478 biolink:is_sequence_variant_of NCBIGene:130060983 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3729a7c3-0e7c-48e3-aa29-33113fccfd10 CLINVAR:1691478 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6d7b48f9-2989-40eb-85bc-5a2ce7cd8a2c CLINVAR:2506415 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03fb0f0c-f133-44a6-bd87-b2e13d11630a CLINVAR:2506415 biolink:is_sequence_variant_of NCBIGene:130060983 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a4cdbb4-fe34-4175-afbc-657b01175667 CLINVAR:2506415 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 581dc892-1ffb-40ef-8acf-31420cb1e3e1 CLINVAR:1703867 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a0637bc8-002f-4502-8466-e2cfb2885969 CLINVAR:1703867 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 485a4d9e-5281-4758-8a73-b7d0eeca3054 CLINVAR:1879044 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5b98f89-7af2-42ec-9e03-95e95e6796c0 CLINVAR:1879044 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a467dad6-9e09-4413-8bf5-1567c74c5312 CLINVAR:2498347 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba980159-9da1-4d84-bfa5-3a5ae286cee6 CLINVAR:2498347 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b04de58-cb94-4909-bc6a-d9996ec09b83 CLINVAR:953034 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad5d6982-7f33-449c-ad73-fd535449478d CLINVAR:953034 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c780a48-423f-4e07-ad3a-01ef2a0b54a2 CLINVAR:996185 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ba6f8b9-6961-4343-b63d-5ce10eb84d91 CLINVAR:996185 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4ddcce0-9440-41b0-8d78-72c02b601d69 CLINVAR:953037 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dfa18a49-28b0-448d-a1d5-4ef98face158 CLINVAR:953037 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23eba794-8cd5-482d-ab26-13eccca8d31a CLINVAR:1210189 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1158cc48-0fb9-42ab-b4eb-ace0b619b5c0 CLINVAR:1210189 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 92237f51-0a1f-4640-8b27-10b203ec4541 CLINVAR:977125 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7449d2d3-ad67-42ab-91a3-65083cea60a0 CLINVAR:977125 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23bf85b3-b7aa-4356-83d1-7c286b1e6a0a CLINVAR:3242391 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 808668a9-ce30-45ad-a2fe-7761230bdf72 CLINVAR:3242391 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63294535-a98d-4364-9dd4-6fd66080363e CLINVAR:1691491 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 309d483b-ca32-4539-9bf3-b748b1226fa9 CLINVAR:1691491 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21d645f4-6d44-4e7f-81fc-76c9c8fd5bd7 CLINVAR:2506413 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a5869f2-f3de-4cdf-ba9a-9ee187002b46 CLINVAR:2506413 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6d10538e-3ac6-42dd-a275-3388d1d6afa7 CLINVAR:3391410 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc4388f6-957e-49a1-9a67-74782cce5a97 CLINVAR:3391410 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 788a16bf-4d70-457b-964f-0a4a659094fe CLINVAR:1691490 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 088005ff-7741-46c6-8654-566fdc822a34 CLINVAR:1691490 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 60ebf044-003e-4ac0-98e8-622bd9047db9 CLINVAR:2498352 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cfdc51b3-e1c4-41db-99ad-5aa39dbe02f3 CLINVAR:2498352 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 861b1736-e1c2-4fcb-b2ad-9b374582c0a9 CLINVAR:1684324 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62a06e1d-8eb9-4346-96b5-bb1b5dbe9e1e CLINVAR:1684324 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63b8e109-80c2-4e3c-8660-8e6f83901501 CLINVAR:953032 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 487f478f-e457-4aee-9ece-5182f4bf6417 CLINVAR:953032 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 81c1fcb2-5758-4f04-b9e5-f3b2eb45c7be CLINVAR:1879061 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9688b4a0-2852-40bc-b5b7-b5ee63a824d7 CLINVAR:1879061 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79b62b7d-8d09-4db8-8d30-8b9781a9886c CLINVAR:1879065 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c258e26e-acee-42d9-896a-e51686314586 CLINVAR:1879065 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 368b294c-8dc6-4ef4-8c37-ce6e067e4805 CLINVAR:953035 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d1f075a-f6d0-4fc0-a94f-e59171778124 CLINVAR:953035 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f0f5521-0045-4cbf-99a7-afaea65d3980 CLINVAR:1703869 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c536f3b-d94c-4875-bfe6-364dbf15fe78 CLINVAR:1703869 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 69b6900e-8c95-49d3-a8ed-145d07ef5f4a CLINVAR:1879030 biolink:is_sequence_variant_of NCBIGene:3674 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd37c049-ccd0-44f5-bc3d-8e01d7eb9336 CLINVAR:1879030 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e5d321b1-6161-4f2c-a02f-6278c37e0e06 CLINVAR:953028 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e20112cd-6706-4f72-a812-e1dce6b7d075 CLINVAR:953028 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel abbc6863-6020-49d5-9597-a8cd4fb1257f CLINVAR:627094 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c71d7228-4124-4b5a-8497-ce2c60d9b2ed CLINVAR:627094 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d4c7208-e126-4196-ac3c-1f3eded2a452 CLINVAR:953050 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66730657-aeee-4196-a984-89ceed8ae639 CLINVAR:953050 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f55b2a34-3de0-4360-9f6c-8e1ce93733b8 CLINVAR:996193 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62448aaa-6929-4603-83f4-dc8989d1932b CLINVAR:996193 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bee570b4-ec55-4873-938e-d0c537be8f73 CLINVAR:953043 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14ba6998-644a-41e0-9df7-ed5d356a5210 CLINVAR:953043 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a346486e-fda1-46cb-a5a6-e54633e9279c CLINVAR:1879041 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8697c2b-f182-4aae-af8e-529dc6d4042b CLINVAR:1879041 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d686fa9-4a40-4482-a721-f69b433bd492 CLINVAR:953030 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72c05a21-52b5-452f-b67b-158962cf9c0b CLINVAR:953030 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ff1c4ed-e755-4012-ac01-8f43bdda5d40 CLINVAR:1879027 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00002e9a-4963-4d60-bb33-617ace2afdf7 CLINVAR:1879027 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ad7f2ba-808d-45b4-a352-b3c3b16cca20 CLINVAR:1330352 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62493b17-a2a7-452f-bde0-ccb664943fe8 CLINVAR:1330352 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36cea5d3-de65-4766-82d7-f0ce97af8f4f CLINVAR:1879054 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d8a0764-f33d-4252-affb-71d6b5f14d94 CLINVAR:1879054 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d49a38f1-9def-4d90-9aad-11f4ff0363a2 CLINVAR:996186 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc0f6e6e-467e-4e0a-9f49-84d907119bd4 CLINVAR:996186 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ded1775e-a7ad-4ae7-907f-a8c0cedd7f21 CLINVAR:631774 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cff777f3-9f2c-4143-b9b6-a30d7b9f1418 CLINVAR:631774 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 39bb6c4d-7853-4326-860f-c2e339f57043 CLINVAR:1330313 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17261113-fe8f-4e2c-b322-a28c155a9858 CLINVAR:1330313 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 19ff7cfa-9ed0-4ebf-93e9-f177ba07a464 CLINVAR:953063 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff1b58f4-64e2-4026-a92a-63ae05976094 CLINVAR:953063 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 398f4979-02f6-436a-bda8-998813f91a6a CLINVAR:996209 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6f7d62f-76c7-45ad-87f0-f4409ffb6e17 CLINVAR:996209 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75166bed-1017-412f-a381-286855e5e5be CLINVAR:623142 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6ff6c8d-e7ff-4618-84cc-1c66a449e231 CLINVAR:623142 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 186735c3-b7af-47fd-919d-9188b690392b CLINVAR:1879021 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26d18378-8ead-4f42-b6fd-2405d586766c CLINVAR:1879021 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b498487-570c-4cb7-97fa-f24fd7a59efa CLINVAR:996166 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f15ac70a-4018-4b0f-8212-db744c0a9a1c CLINVAR:996166 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c7738279-ed1d-4cc1-8143-b8c23255f482 CLINVAR:1330340 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 951fb0d3-9164-476f-8e3e-2a1b3ed1305f CLINVAR:1330340 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0faa7697-a86c-42d2-9fbb-ff04164c7075 CLINVAR:631775 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2a7bdd3-d403-44c2-be8c-cad145a46ece CLINVAR:631775 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 54f02748-0ebe-4fa1-9db8-52af36847a1c CLINVAR:1210198 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20e2f8dd-28fa-4ea0-ba03-ee052c7075c0 CLINVAR:1210198 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f73016b7-e6c2-46f6-bbf7-e5e4146e336a CLINVAR:1879016 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5510d3f1-7589-486e-abb1-8f45f7e33cc2 CLINVAR:1879016 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42e43095-d076-4fd7-926e-e9a6a89bc7f5 CLINVAR:1691483 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af76cd0b-582b-4457-a424-1dbf63fd3873 CLINVAR:1691483 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 25c06a52-647f-4dea-a049-a4ce3264c6bc CLINVAR:1691482 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar becc9f4a-f64e-4f5c-9032-0c2c84586879 CLINVAR:1691482 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac0c8189-5b0f-4bfc-894c-cf009c9eccb4 CLINVAR:3242394 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5273ea2-2d2f-4275-b9d0-2e71977f4571 CLINVAR:3242394 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dde92d97-480a-4013-a1ae-36fe0de0d407 CLINVAR:13567 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0dab5ff7-1a7e-4da7-9b42-c5ad844e8a57 CLINVAR:13567 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f62ace03-ff03-4cd9-bb8e-aa77ef304f06 CLINVAR:996188 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f392fefc-e8cd-425e-b53e-074ab60c7633 CLINVAR:996188 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f5d54c9-c9f1-4836-ae7b-93e237d7b2d2 CLINVAR:627066 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9447e70-f429-424f-9263-4e01800d88ca CLINVAR:627066 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6ba25d9c-66de-406d-9d82-88ef5102f712 CLINVAR:13554 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60a99c65-ae13-4475-b81e-4db709996f7b CLINVAR:13554 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82798f0c-a7e5-4674-b868-befd0ac6eb4e CLINVAR:1684354 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fcf1639-7e17-48e7-b4e9-a0582ecae803 CLINVAR:1684354 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9797979-8c61-4df6-a0cb-8673f0050785 CLINVAR:953053 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b5f92b3-1fdc-4fe0-a088-91ab702287fe CLINVAR:953053 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0fe37d0f-bb66-44ee-a2cf-28a43ff76eb7 CLINVAR:4088267 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5817c76f-eefb-4702-8ea5-74c00355b033 CLINVAR:4088267 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9edbf9d3-3e73-487f-a3f9-c667ed488e6c CLINVAR:953061 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90c6c4f5-2bbe-4a04-870f-850804200e24 CLINVAR:953061 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 853a71ce-e470-4c82-abc7-9682d3e6cf13 CLINVAR:3242406 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb371784-be3c-4ef7-bd18-abf4b1eec86d CLINVAR:3242406 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dfaf1383-2697-495b-b45c-825f0921205f CLINVAR:812736 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a9debd8-cb5e-44c4-a794-53b541fcc870 CLINVAR:812736 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90534bcb-64dd-42c4-b994-7ee62c46348a CLINVAR:1879008 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a85da2e-5662-46b7-9ca6-6d78710d88cf CLINVAR:1879008 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6e990aad-601f-4e01-b929-fda57f2f8751 CLINVAR:2498373 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efca6380-5b0e-40b9-8a3d-40d7d6315a3f CLINVAR:2498373 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cde27b9f-511a-434e-be46-d539693936bc CLINVAR:1330341 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 859eb081-de62-492e-b798-3e0f74b04993 CLINVAR:1330341 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08f4e085-fdcc-4266-b791-555a6a9e9ce3 CLINVAR:1210175 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32b14ebd-7654-47b2-86fe-b9207ad55d5c CLINVAR:1210175 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f0c6861d-9ae1-4ed7-bc3a-ed46df3df199 CLINVAR:953047 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e9ebc7d-7d38-4c88-af98-45ab5af407e2 CLINVAR:953047 biolink:is_sequence_variant_of NCBIGene:130061043 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01afdbbe-944b-4ebf-8d4a-851a202c0fa4 CLINVAR:953047 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5f225439-25d3-4b95-8e06-a01647d27140 CLINVAR:2506412 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19227d97-5cca-45ca-9726-67725570e5da CLINVAR:2506412 biolink:is_sequence_variant_of NCBIGene:130061043 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce6d8165-8c27-4def-ae18-50ca34d2d431 CLINVAR:2506412 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel da7d7d67-6163-43b0-acd8-9faf1d3a4326 CLINVAR:996202 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b50dc2bd-609a-4c14-8b26-a16a4f6d4abf CLINVAR:996202 biolink:is_sequence_variant_of NCBIGene:130061043 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9859c69-a6c7-4ac6-82f7-f9e886ed712d CLINVAR:996202 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6ee6d042-4002-48cb-bc98-c63433215e0c CLINVAR:2498348 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab42e736-09b7-4dc3-a774-adcca6edbe57 CLINVAR:2498348 biolink:is_sequence_variant_of NCBIGene:130061043 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5908143-be3e-44e7-9fb7-818c845f2065 CLINVAR:2498348 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 55fa6f2b-12f7-4299-8275-6468cc7d68c1 CLINVAR:996163 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3491e72f-607f-4ffc-ab04-420b150347ac CLINVAR:996163 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d221ab96-6a42-4ed7-8187-c60b078dde83 CLINVAR:1691467 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ac217be-3dd3-4f9c-b5c0-80de91200b45 CLINVAR:1691467 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8904599-40f3-4d5a-b1c0-30a20fac8c60 CLINVAR:996178 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0915eb9e-fc85-49cc-89dc-0ac562cc5c37 CLINVAR:996178 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a3808026-2149-4778-b422-46fbb71a53a8 CLINVAR:13555 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4159246a-2387-4b99-b56b-7eba8d5448ea CLINVAR:13555 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7fb448b3-5c2f-49fa-b01a-636c20fbdc78 CLINVAR:13553 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da1d148e-eb62-420a-bc76-9d2eaa1023ee CLINVAR:13553 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86646192-56f2-4bb0-a6cb-b5c6b0c40b7d CLINVAR:996164 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04f975c2-9441-413f-b916-fa7ef76fd414 CLINVAR:996164 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 72de05b2-acf4-4697-88e0-e0c6a2ab5aa9 CLINVAR:1879043 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b1b0462-ce3a-4700-afe1-dba27bd99daa CLINVAR:1879043 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4708884d-10d1-4af7-9121-849fe059da83 CLINVAR:800945 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 532d1c68-41f0-4e47-8280-aa7a2a34e848 CLINVAR:800945 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a2888916-20ce-4774-82cd-09e41ceb1d95 CLINVAR:1210177 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55f0858b-ef74-49c2-a738-65ee41d6ca91 CLINVAR:1210177 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c87a351-72b7-45dc-9d2b-431605b28805 CLINVAR:374016 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cc20ae5-b970-4aa6-9ce8-70dd4edc7283 CLINVAR:374016 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 84ee45a1-9a43-4034-abb6-5ace8e728244 CLINVAR:1330321 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf58353b-4f07-45d1-8984-c9c6776d2030 CLINVAR:1330321 biolink:is_sequence_variant_of NCBIGene:130061044 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71c10424-c068-4de9-825e-b32234ec8bca CLINVAR:1330321 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7ccef5b-be70-4d62-919f-fe915cb6f63a CLINVAR:996175 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca825616-745f-4679-833c-3f8d15e4d078 CLINVAR:996175 biolink:is_sequence_variant_of NCBIGene:130061044 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar deb76634-f13c-44e4-a660-8b7571455083 CLINVAR:996175 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9c8821a5-d0fd-4e46-980c-8330b48cbd59 CLINVAR:627131 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c6d3a92-5a25-4ed0-8174-52a5060c0b20 CLINVAR:627131 biolink:is_sequence_variant_of NCBIGene:130061044 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 935116ed-2eef-44d3-8dec-fdcf1aac30f6 CLINVAR:627131 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel da7f10ba-9346-4465-9209-ea629fd3030f CLINVAR:953052 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ad81e55-5063-4c3e-9d6a-2fcfb105c473 CLINVAR:953052 biolink:is_sequence_variant_of NCBIGene:130061044 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6013db62-2604-493b-b185-bcdbd54415da CLINVAR:953052 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34edc5d5-8bf7-4f97-b572-38311268d90c CLINVAR:1210170 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46ccc2e5-3fb8-4139-99e2-b65d16212a60 CLINVAR:1210170 biolink:is_sequence_variant_of NCBIGene:130061044 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 556986e8-7b7e-4e18-b504-fce99b2767af CLINVAR:1210170 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 731891d3-1e39-49b5-8b13-3e68f2653f57 CLINVAR:850886 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dade6263-cf77-4b8b-941b-1d0900510c78 CLINVAR:850886 biolink:is_sequence_variant_of NCBIGene:130061044 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 223b9cd2-c878-44a0-a9bf-c25a49effdf9 CLINVAR:850886 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fda1b5d8-a655-4b93-a362-4e869885d683 CLINVAR:2498356 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7953191-24b3-42f8-aa9a-7674e71105ef CLINVAR:2498356 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b3d0de7-4080-43c2-8488-9564d818c8aa CLINVAR:2498362 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d86afee2-045a-4c6d-a92b-5a21ed6736f2 CLINVAR:2498362 biolink:is_sequence_variant_of NCBIGene:130061045 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 477e8401-2bee-4b06-8923-2979b0fdf203 CLINVAR:2498362 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 582a1856-5446-4f06-a228-869426031975 CLINVAR:1330335 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d49a4dfe-5327-4817-958d-8af2dbef4cf3 CLINVAR:1330335 biolink:is_sequence_variant_of NCBIGene:130061045 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a61f7000-f3ac-4523-9578-f71fde47f21f CLINVAR:1330335 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4826e641-2874-41da-8116-036bde734f26 CLINVAR:1879015 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 828bd42d-6974-4231-b139-bc403894d6c4 CLINVAR:1879015 biolink:is_sequence_variant_of NCBIGene:130061045 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ca9d087-c6b9-4adf-8d42-f3f370d5530e CLINVAR:1879015 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f11a7fdb-d4af-4182-99cf-aa31ffca7b15 CLINVAR:1330339 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9876422c-829a-4e3c-bc71-bec0f86c4e1e CLINVAR:1330339 biolink:is_sequence_variant_of NCBIGene:130061045 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52cbd303-b2d1-4caa-9198-b2e560e352f1 CLINVAR:1330339 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93984bfd-9221-4f89-b4ef-fa4f9069fd4f CLINVAR:627151 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4d31082-6e56-4909-b511-8ff3f085c13e CLINVAR:627151 biolink:is_sequence_variant_of NCBIGene:130061045 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e0224769-04a8-4032-ac8e-1f194daa49b7 CLINVAR:627151 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 04946632-8fff-485d-85ba-7c5b54729831 CLINVAR:1330337 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd2f100d-1882-4509-aa79-736ec6eb0f29 CLINVAR:1330337 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 690fd4aa-cbda-439d-afc2-71afbed6b6c5 CLINVAR:1879009 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eef8676c-59b2-41ff-bafe-87f57eb9400a CLINVAR:1879009 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8b30b6c3-25ee-41e8-a5bc-86602073901f CLINVAR:953048 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7efd3e76-96d8-4259-9c5c-22afa4dda3ca CLINVAR:953048 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 64ae944a-2a54-40f7-b99b-7a2b30b61752 CLINVAR:2498368 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4aebed4-15e7-4b8e-a27e-89639daac1f0 CLINVAR:2498368 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b42bb54f-b7f1-4184-9c45-775de716d9ab CLINVAR:1330332 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f8a9c62-eed3-432c-b3d4-fba3666a3f0a CLINVAR:1330332 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3c56516-8a73-4e51-a8bb-6529738eeedd CLINVAR:1330311 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b503965f-b417-484d-b273-01eba160dfc4 CLINVAR:1330311 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 880a2685-df4d-4732-8116-e58fd8ba79ed CLINVAR:1330349 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ca1e050-324d-4b5f-81ec-48552a0574c5 CLINVAR:1330349 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16b9517d-d9dd-47bf-9f6e-6ba07b04734a CLINVAR:996190 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar acbf2178-2ee8-435d-a88e-9437fb41aa3c CLINVAR:996190 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8d46858f-3c0e-46e5-9e10-1c2795cc2c1b CLINVAR:996176 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b67db349-a1fa-482f-b750-690f63c3f97f CLINVAR:996176 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2d306789-64ab-4d6c-ae41-7dcc0f7a3e2f CLINVAR:996159 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70adabea-2b1b-4883-8cc7-7dc1ae236760 CLINVAR:996159 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bc1dfc10-eb38-494c-b855-f46fd162d486 CLINVAR:1691459 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 891319a0-cab6-4e4d-a2d4-bff616ff60ce CLINVAR:1691459 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 88a1f381-e671-4537-bbbc-c744a80f2aaa CLINVAR:953026 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa21bb3d-43b0-4114-90e5-cde6f103398f CLINVAR:953026 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43fb5cbc-166f-473d-b8da-0d0dff19a97d CLINVAR:1210200 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b3e7b0e-91cb-4266-bf9f-deed40001db6 CLINVAR:1210200 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d4540f47-0706-493b-930b-28fd4c24e8df CLINVAR:1210199 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 037d1ffe-965f-4550-92a9-a063b2b01e9f CLINVAR:1210199 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8435d367-ebcb-4767-b00e-6c3201de8703 CLINVAR:2674647 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09ba0fc1-a370-4277-a390-11d7e4e4a1e3 CLINVAR:2674647 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6cdcfb2a-99e3-4dde-a2a6-c2858420dd2d CLINVAR:1210186 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25d2657e-6927-4187-a3b4-4d26e8b0e326 CLINVAR:1210186 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 37dc9228-058c-4caf-b727-e84287cd444f CLINVAR:1330315 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7eac2171-cb8f-49e5-8569-7bc4db01a8e1 CLINVAR:1330315 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 121c328e-7872-43b2-99c2-bbba960cb344 CLINVAR:1879059 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b89d641c-3aa7-4629-9721-ad194cd9f9e7 CLINVAR:1879059 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fce0fa33-0e23-4dca-a88c-537f0c93c083 CLINVAR:1691481 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2662f431-9c3e-49bb-8f31-c035958acc11 CLINVAR:1691481 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel edb7d9d1-4419-4ab4-adde-5a74a5c42227 CLINVAR:13562 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64532614-c07e-4d00-9c48-7bebffb460f0 CLINVAR:13562 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1989b14-026a-44e0-9931-bfac6d2f7716 CLINVAR:996184 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cc40b2c5-d0ae-4c18-b511-e26448862d15 CLINVAR:996184 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2894a0b3-8535-4021-b880-f033bb07527e CLINVAR:1330314 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2791a3bc-17af-4eab-ad3a-7082b29f8827 CLINVAR:1330314 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1810b440-ce3d-4f88-88cf-121744bc9abe CLINVAR:1330322 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74ab612b-625d-4016-af13-df0e4617a007 CLINVAR:1330322 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a33eca5f-afb2-4b63-8e96-01d6442df0fb CLINVAR:1879047 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77d6d2d0-91f8-4d95-8331-194ef918632a CLINVAR:1879047 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 94e27628-c1e8-4c11-bbc6-c476909ea064 CLINVAR:1695377 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee7d6bf0-ee19-48c8-976b-7be026d28d42 CLINVAR:1695377 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4630181a-9b83-4ba3-a747-84842eb972e6 CLINVAR:1691487 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46329eb4-01cf-4aac-ba6c-59f4e190e1a1 CLINVAR:1691487 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2e65cb91-8f2d-4dd1-b011-7f2df6460d85 CLINVAR:1330338 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d16402f-880e-4c0f-9369-2181b5940a71 CLINVAR:1330338 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d92e21ee-5d26-4bf8-8320-dda5cf7edc95 CLINVAR:1691460 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c92e9c0-cb05-4710-ae32-d7b25d7400b0 CLINVAR:1691460 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c05fe45-b941-469e-a220-1086f541fe4b CLINVAR:627234 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 993c0eef-0985-4b8b-925e-2bc6cd1ce178 CLINVAR:627234 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17151ed5-09c1-4d5e-8c3e-f686f61e6cfe CLINVAR:3242396 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb6fbd3d-094b-4acd-a22c-4c967b4d0f3e CLINVAR:3242396 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb0fa599-8852-4083-8366-fa001d966cee CLINVAR:3242401 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67b37003-1682-47f1-9a26-cfa50eb2e225 CLINVAR:3242401 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 31fef590-6fed-4667-875d-44ef2cb8019a CLINVAR:1210187 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d9f1ff5-35e5-487a-9466-0adf9009e716 CLINVAR:1210187 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 002246eb-05dd-40e0-a235-877b649d8907 CLINVAR:953012 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f56d039-65ac-4624-b14b-afccfd72d032 CLINVAR:953012 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d1635b3b-6059-467e-805e-81ddc04a5286 CLINVAR:2498350 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e357acbb-24e8-4257-b7c3-ae239690dd28 CLINVAR:2498350 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bae1c19d-c307-48bc-98fe-96c478a59033 CLINVAR:1330310 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fa46db8-c072-4a9e-b3df-587ac49a0d4f CLINVAR:1330310 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d67f1a67-56eb-4ed2-b72a-8852609c227a CLINVAR:1210183 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ae675ef-78b0-413d-b150-3c12298d67af CLINVAR:1210183 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dab5701b-6c97-4145-bd5b-13965b614d9b CLINVAR:1330336 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 901811a0-734e-4fd9-9a9e-e8f4f43dec47 CLINVAR:1330336 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86234f59-6332-4cf6-b457-8ae825b18645 CLINVAR:1879017 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10d39f2a-978e-421b-ba8f-03ff663ecb03 CLINVAR:1879017 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3cbcda47-cfe9-4a36-ade4-9f2b92add9cb CLINVAR:1210209 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7c3368d-f38c-41d8-aa0d-b383eddee9ec CLINVAR:1210209 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 537c7146-a8db-4798-b22d-961b8b0b7b2a CLINVAR:953059 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c82e3a0b-3f73-431c-99ea-adda0f877519 CLINVAR:953059 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7657d5c4-4eab-43b4-a337-0c22c059eae5 CLINVAR:3775049 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b58f7a8-4da8-42bb-8a78-9ed2d449da4a CLINVAR:3775049 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1a5fc94-5c6b-4fc6-9a3f-9743692d26d3 CLINVAR:953010 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79f69bf3-716c-454c-abea-9262b6d2d219 CLINVAR:953010 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 983e4027-c2aa-4ea3-81e3-a58afe55216b CLINVAR:953007 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1985d77d-bbc2-42cb-a22e-c802518ff697 CLINVAR:953007 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cc54c949-7cb7-4ab2-8961-5f19789b2f1c CLINVAR:1879032 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 339be791-02a1-4085-9c29-21d6850ddf57 CLINVAR:1879032 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 396a3471-834a-46ac-b714-3a5f48cd1219 CLINVAR:2498353 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0867b5db-b36f-4786-8260-7ad5c12f6fa4 CLINVAR:2498353 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47a569a8-9604-40c7-8e5d-60b4c5b25ba1 CLINVAR:1879045 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e0c280f-6d3f-4afd-a45c-15cf6e58b254 CLINVAR:1879045 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 03883c3c-cb16-4acc-bc47-e580f84be9a2 CLINVAR:977131 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c0be6e2-c0c2-48f4-b680-d3671fb6786e CLINVAR:977131 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b2e0d6e3-db83-4e8d-ba33-4b60a038845f CLINVAR:1691476 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32e873a0-f940-4a95-9aaa-613f38cf671d CLINVAR:1691476 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c124225-84fc-4f22-b570-f20781eb38c3 CLINVAR:996174 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 858bf3ab-3685-4974-8b95-b899ea7ec25b CLINVAR:996174 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f2510981-df3e-4b20-96be-5c7fe398b10c CLINVAR:977132 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5587639-cf23-47ab-86a6-cd193032c068 CLINVAR:977132 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3853694c-6b9f-474d-a66d-08090da50f90 CLINVAR:374015 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cb95a7c-9ba3-4047-b005-fe0eb169033f CLINVAR:374015 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa32150d-6720-4a13-bf9f-518ed91e1f1d CLINVAR:953008 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87793361-4958-411f-9a45-f23a1b081659 CLINVAR:953008 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 351e183d-40e1-4127-aab6-c43bb018af64 CLINVAR:1330331 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 253a1998-f3f7-4c0f-83a4-ac7cf1b116e7 CLINVAR:1330331 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7809bbb9-7e7c-4858-b12f-8e4993a85bc7 CLINVAR:1330324 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2b51f73-e178-41f2-bbdb-57688ad3b143 CLINVAR:1330324 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdd6ed79-9a7a-414a-b07c-a1d3d5c4d3eb CLINVAR:1330323 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb0075c1-9019-4b12-a88d-993d923cc064 CLINVAR:1330323 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6f16c2d-977d-4c93-8e45-87e4e566d5ef CLINVAR:953049 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef32ced8-b3ea-4bd2-91cd-1af9cd6a3943 CLINVAR:953049 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb93a2db-9500-4114-b77e-6c5ed86cbfc7 CLINVAR:1210194 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e10e0094-87db-4591-b946-76f0c70b535c CLINVAR:1210194 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f299b38e-8c00-4257-b55d-fe3569e17bbf CLINVAR:996182 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2e8b0fe-ae5a-49d5-b017-f25a94556930 CLINVAR:996182 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b6d08748-ab48-41df-a24d-ff8594b2ac8f CLINVAR:1879042 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f557530-7e70-419f-b97e-68516e39d21a CLINVAR:1879042 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 735bf912-b059-4cf1-82bc-2e474c514f5b CLINVAR:1691461 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b4144f5-5949-4d49-8fe1-fa7d67f73218 CLINVAR:1691461 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d90a4c9a-1c94-4a7e-813e-7084a7998c92 CLINVAR:3242395 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e45a5e5f-6883-4bbc-a835-a667d30b86bc CLINVAR:3242395 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 691f0bcd-ee84-4179-ae69-ab6afb7dc59a CLINVAR:996162 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c96424bc-e7d2-4e0b-b752-e31d43fbf615 CLINVAR:996162 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8f2a654-2e85-433b-9a92-ccf3fb03e6b8 CLINVAR:996179 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 152ac167-1865-46bc-8527-cbbd298acaf0 CLINVAR:996179 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93cb64c4-58af-4811-bbff-55543da41750 CLINVAR:953041 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cb64a17-c487-4b06-b311-c1f7ade9db15 CLINVAR:953041 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6035e060-a4c2-42c8-ae27-81d016961d6b CLINVAR:13565 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 978c96ba-03bd-4dd6-a293-e91609b8e1b1 CLINVAR:13565 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68141548-ff2e-4509-9bb4-bceef331657f CLINVAR:1330334 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d89d1dc-bd0d-41c3-8d8b-e59bede64715 CLINVAR:1330334 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a8431741-0fd1-4aff-b12a-1e11b99f0fca CLINVAR:1684418 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fab74ca5-221b-4846-8937-c1dc787a100b CLINVAR:1684418 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 268496ae-4921-4a8d-baae-bf7a89e065b0 CLINVAR:2498364 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c882715a-8936-4d6b-890f-b734e37489a2 CLINVAR:2498364 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ef4d4e8-e061-411d-ad2f-09e7613b400a CLINVAR:953009 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae344b96-7654-417a-812e-7f070494abbb CLINVAR:953009 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e32d545-1592-4ad7-ab1c-5fe9056090c2 CLINVAR:1691457 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1982c843-0db5-478a-b906-ee49e40b9128 CLINVAR:1691457 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2dc3c8fc-7ed1-4f17-8172-bf1b014d3958 CLINVAR:1691479 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f8ed23b-32ae-4cf8-bab1-94d756369b3e CLINVAR:1691479 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc44ca00-c498-4e85-b0df-2cc3b6cd1aa1 CLINVAR:1330316 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b35f40ee-b91a-4ff1-a18d-6df28e456327 CLINVAR:1330316 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33674f55-9313-4f72-8929-6e153956cfc1 CLINVAR:1210208 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fa43655-d1aa-41e6-a733-0221ca3ccce0 CLINVAR:1210208 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4e76426-8b5c-4287-a722-0bab09cb612e CLINVAR:953051 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa98369d-74eb-4360-82dc-325689b5c9ab CLINVAR:953051 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eed36f8b-f0d7-4135-ad3b-e38a225e0321 CLINVAR:1330333 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 558aa757-38cf-40c4-9921-3ea7ad55deb9 CLINVAR:1330333 biolink:is_sequence_variant_of NCBIGene:102724508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09bc62d2-2f40-4cce-af0b-8dee3ed30758 CLINVAR:1330333 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ca122a88-8583-48fc-9113-d890a9964fd1 CLINVAR:2581085 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09717cdb-b7fb-4f0a-8b81-b633954601df CLINVAR:2581085 biolink:is_sequence_variant_of NCBIGene:102724508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c1048bb-2f5e-4616-b279-205e963d0117 CLINVAR:2581085 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 724342b8-7ccb-4fd9-9ac2-eed41b161694 CLINVAR:1691464 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f41914f-d6b6-41e8-99f0-cea72bc08a7a CLINVAR:1691464 biolink:is_sequence_variant_of NCBIGene:102724508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8252061-9279-496b-9a99-b4a2a4433274 CLINVAR:1691464 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b4fe4833-1423-45c6-96a7-064b7a5a50fe CLINVAR:3242398 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 784eb6a4-7424-4a3c-a0aa-9ca9f87a13f4 CLINVAR:3242398 biolink:is_sequence_variant_of NCBIGene:102724508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba353e91-2f1c-4dd2-a6b9-b80dd1009da9 CLINVAR:3242398 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2a88ff31-a5f1-49ed-816f-98cab4d20bcd CLINVAR:13564 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dec6bd8-3145-4d5c-8a25-8833c3276440 CLINVAR:13564 biolink:is_sequence_variant_of NCBIGene:102724508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c26cd279-1b7c-4b74-87fc-da75d47710f3 CLINVAR:13564 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb2a2596-7eb8-41b0-b80b-7567e3e0dd42 CLINVAR:2506414 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd04c835-5f8e-4042-8e4f-30cc95f31a00 CLINVAR:2506414 biolink:is_sequence_variant_of NCBIGene:102724508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba15c771-df40-4ac5-8972-86799ddcdc7c CLINVAR:2506414 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da5eb3b8-75b3-4260-b04f-1f316191addb CLINVAR:1210204 biolink:is_sequence_variant_of NCBIGene:3690 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f60f3461-05c3-4435-adea-f2cd3537cf8d CLINVAR:1210204 biolink:is_sequence_variant_of NCBIGene:102724508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c2a54e4-a86e-4a78-93b7-161028a34e2f CLINVAR:1210204 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2ef7681b-4393-4d06-849e-5eaa29e46aaf CLINVAR:217250 biolink:is_sequence_variant_of NCBIGene:6442 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd7fe024-da14-4330-b77f-34db21ec3e06 CLINVAR:217250 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 91adaf2a-0c09-43df-84ba-04af1a662a1a CLINVAR:92301 biolink:is_sequence_variant_of NCBIGene:6442 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ceebee90-66b4-4251-b93a-a4925de52230 CLINVAR:92301 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aa8008cc-9105-4bd5-9c5d-ac661051600b CLINVAR:9437 biolink:is_sequence_variant_of NCBIGene:6442 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 708d6103-9554-4f70-b0c6-7c30fce29177 CLINVAR:9437 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5bdef0e5-8ff5-4160-9369-3c3abee5cdf7 CLINVAR:92302 biolink:is_sequence_variant_of NCBIGene:6442 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2af1517-08de-4675-ab57-9ae303a4231e CLINVAR:92302 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2a04dc9f-08bf-4f3a-8161-6fd664427cf4 CLINVAR:284945 biolink:is_sequence_variant_of NCBIGene:6442 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddeee847-9f66-4638-b2fb-1eef462fdcb9 CLINVAR:284945 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 29f802ba-e3a1-4f03-b505-a0c5227ceaee CLINVAR:37202 biolink:is_sequence_variant_of NCBIGene:6442 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c52e963c-143a-430b-b73b-a33051bb210c CLINVAR:37202 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d838b61-ce23-43ff-a389-64976587bec5 CLINVAR:497672 biolink:is_sequence_variant_of NCBIGene:6442 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3201b276-8b96-4916-baa5-6c94f9cb87f9 CLINVAR:497672 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 058e51bb-8090-421c-969b-b3143d5026fd CLINVAR:452720 biolink:is_sequence_variant_of NCBIGene:6442 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edbe1c86-b8ab-4800-baa1-602d460e4314 CLINVAR:452720 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2519cf4e-93bc-4410-a3d1-2ad18ad7f892 CLINVAR:497670 biolink:is_sequence_variant_of NCBIGene:6442 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99b16e73-1823-4112-82fc-c4b36a9d2c7a CLINVAR:497670 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f966b897-0d02-4e7c-b4e3-ba62a118f73a CLINVAR:198031 biolink:is_sequence_variant_of NCBIGene:6442 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e53bd5e8-4da9-4091-af0a-3df3c19d6474 CLINVAR:198031 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 36b2f23b-42f2-4e3a-81e8-81290145ab13 CLINVAR:9439 biolink:is_sequence_variant_of NCBIGene:6442 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e8af2ff-e3d8-48d1-9bb2-07f65c6fd031 CLINVAR:9439 biolink:causes MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a75f00c-317a-47cd-a5c5-03584e8ad8c0 CLINVAR:978048 biolink:is_sequence_variant_of NCBIGene:6442 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13533195-aba4-44af-b5ff-e5f8f7d4a828 CLINVAR:978048 biolink:associated_with_increased_likelihood_of MONDO:0015152 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 54ef57be-130f-442c-95ec-577cea635e6d CLINVAR:4027 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1804867-feb2-4b8b-97c0-09f8533b76c2 CLINVAR:4027 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca7cbe38-c43e-4cfc-b35f-2d33d5ac7cb2 CLINVAR:371622 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7171b95d-ac7a-4d35-9561-a788c08bc193 CLINVAR:371622 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 797e80b1-f871-4fe2-a269-3406967718cc CLINVAR:557429 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d8a227e-ca61-40cf-ba30-e98ed46e7d18 CLINVAR:557429 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 24a1c60b-9285-4217-8001-8e51578d54ed CLINVAR:188785 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb27e9da-ed14-4561-b68a-4ef2d48863fb CLINVAR:188785 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d8a2717-ee72-4465-aa14-857f5d50228a CLINVAR:984798 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aef002f7-e1ee-4322-8a29-2c0e675cff84 CLINVAR:984798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4eb15257-9cce-4e99-ace2-85d065128f51 CLINVAR:984802 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b6e32c3-c633-4767-b7bc-099fc4398526 CLINVAR:984802 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa9e20dc-a009-4e2b-9ee7-5c72ac1d9f53 CLINVAR:560377 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4ee9fd8-32c9-4801-8311-bc4e2c53fdd2 CLINVAR:560377 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ea30762b-3c30-47c7-a102-826cce1b0ba3 CLINVAR:2446461 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46496339-8554-405c-9a20-13fe3d8ab83b CLINVAR:2446461 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c79a443-564c-4971-9e6b-14b4da72cb0b CLINVAR:555040 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9463be29-eff5-45e6-a41c-964b58dfabcb CLINVAR:555040 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 148c2dae-7ff1-4234-969a-ec88a09f40cc CLINVAR:426593 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df5c00b4-5c20-4cd2-89e2-053654e0a3b8 CLINVAR:426593 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 08ce78fb-c3da-4cb9-aedf-7bcb9a01e7c0 CLINVAR:370124 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6de45bb7-2230-47a1-ae4f-04d95662b218 CLINVAR:370124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dede298b-c222-4e9c-9b47-1348c79ac971 CLINVAR:188903 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffbd5406-1d99-4b8e-bcbf-f9bf5f560b7a CLINVAR:188903 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3b8d129-77f4-49ec-8044-f2a4fcea6cec CLINVAR:371302 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f0acebb-0969-4767-86e1-9a7b423a08f7 CLINVAR:371302 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01985b86-019a-4b4a-a8a1-d2cfccd543ab CLINVAR:557360 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ecd1efc2-838a-4d0c-8e88-b1fd62572190 CLINVAR:557360 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f31edb50-8a1a-43f5-ace9-0e27495bb48a CLINVAR:1693546 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd592d27-0822-405b-bd26-5bcd70800b36 CLINVAR:1693546 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8c797f0-693f-48fc-b54e-f8549af7e6fb CLINVAR:282842 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9855a1ec-ece5-4cf3-880f-c703760886ce CLINVAR:282842 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 949d7cb0-f556-4215-9c9d-1d0b4ef45d8c CLINVAR:551592 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47241e66-5d06-4adf-b104-b29539647c2d CLINVAR:551592 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 87fc625f-f742-439f-a750-41a13e0b13e4 CLINVAR:654482 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cc55693-7d39-4686-a471-9225c45d9777 CLINVAR:654482 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6b911ae0-24bd-471a-883e-9041380a1203 CLINVAR:370458 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96c21a8e-fbe6-47bc-b2e6-b6e3683a90fb CLINVAR:370458 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 83e081d6-7da1-4273-a02f-1e3ae6045faa CLINVAR:92483 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45d5598a-7d5d-453e-b60a-af4557135858 CLINVAR:92483 biolink:is_sequence_variant_of NCBIGene:55036 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f8329f0-06bb-4627-9640-d5661610a57f CLINVAR:92483 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3f784cc-6c08-4309-a677-f1177eca12d5 CLINVAR:1068640 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3eb3ee9-2735-425b-9d40-25d3eaf9f41b CLINVAR:1068640 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed3f650c-b122-417f-82eb-b35b0f33f470 CLINVAR:526523 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef16a194-33b8-47b9-aa32-b932cce81446 CLINVAR:526523 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c6c5c9a3-d1d2-4179-9cc8-e1d5022c85cc CLINVAR:188996 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08a78330-4596-44fe-abdd-b26fa3b3a64a CLINVAR:188996 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 980b430a-1907-4721-94eb-44e29fcbcdc1 CLINVAR:553894 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a42ece5-ab7d-4447-a79e-75d718674693 CLINVAR:553894 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 701bfa0f-3c88-4932-82b1-3c5b09f75714 CLINVAR:189059 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7821442-e537-4b13-9d9b-29901fdf5e4e CLINVAR:189059 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1ccd6cd-d782-4180-95f5-f2927b23d52a CLINVAR:556716 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aea3ed10-780d-400a-a66a-15f02a545b24 CLINVAR:556716 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b856fe5e-f6ed-4316-b37a-841af6656ce9 CLINVAR:932904 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bdf4c0a-5d15-4961-86f6-62b1c410ccc1 CLINVAR:932904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87015c09-b4ce-4d14-b138-c75853df374d CLINVAR:552747 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6427c8be-af23-4344-8816-1f7617608983 CLINVAR:552747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a418c161-6290-412c-beae-59e32d636c9e CLINVAR:938008 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b399062-d9ad-4a80-879a-39ca2283affd CLINVAR:938008 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 84791ebd-ed3f-4e3c-bad8-ed114f3f3253 CLINVAR:371580 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06694f0a-e792-4a5a-82e8-5e2271d89323 CLINVAR:371580 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 18515354-a7f7-4637-83f6-977a15aae46e CLINVAR:932906 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 715b7f5d-65e0-48f9-92de-057b24fac9c9 CLINVAR:932906 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c197442b-355e-48ef-85d7-4d0bf0706b6b CLINVAR:554096 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b082baa4-0a29-4e47-b499-3df8b2e58662 CLINVAR:554096 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8aa31446-7178-436a-9ac8-0ba042033c44 CLINVAR:1327503 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a95350c8-3022-4048-a046-e152168181db CLINVAR:1327503 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed4cc08a-e546-4a76-b9ec-08689c00e71f CLINVAR:551530 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bc3c78f-5ba6-450b-b8db-e4cc9b4d2949 CLINVAR:551530 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 29d93abf-cc48-4792-bda5-485e4f38c917 CLINVAR:551306 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c131d13b-7442-4fc5-babc-5d340e7db2fc CLINVAR:551306 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ee8962cb-1887-4204-a00d-f6945f9cc5b8 CLINVAR:932902 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 842b482e-c85a-4479-83db-953b1962d6fb CLINVAR:932902 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4f089698-878e-49fa-b12d-d355473cb3bd CLINVAR:371501 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e41fc35d-3028-4621-bb9b-d19ecda57561 CLINVAR:371501 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 512a65ec-98bb-47ff-8b7b-dc24c51e92a9 CLINVAR:596146 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e78d438a-7a46-4f9d-ae87-de1350b5c9bb CLINVAR:596146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa74275f-ae3b-4e4e-8e6a-dbc0f034a85a CLINVAR:4033 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d07747e-26d7-4b90-bcc4-872b90a1a5c0 CLINVAR:4033 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 547f5e51-4b17-4b66-b0b1-024361ab3921 CLINVAR:189057 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba49fbb2-f094-46a8-93d7-199b0e4a2f99 CLINVAR:189057 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bad6da2c-c28c-4917-8503-4e58c97566bd CLINVAR:280955 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68461eb8-f8f1-49c5-bee4-f120deeb7317 CLINVAR:280955 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad598f67-187d-4762-b23a-41c94e5a72e7 CLINVAR:281056 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33d512bd-7400-4562-b369-ca9a3d3d287a CLINVAR:281056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76c6019e-6b26-40f9-9c5f-00e468b7e897 CLINVAR:370637 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 750a1bf2-41ec-43cc-8e21-24792d2113e7 CLINVAR:370637 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ddfe7434-59c3-453c-bb2b-e2f3bf757c3f CLINVAR:3241650 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 28503ce4-217d-4d4d-a46f-71bed48bdefd CLINVAR:3241650 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4d2b224-b7bf-484c-97fb-d51e93138331 CLINVAR:370276 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10d0e31d-0a29-4c09-bc19-985f7a5a1e12 CLINVAR:370276 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9309d365-9a83-4799-a819-a167b8a8e052 CLINVAR:935900 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53f91eb4-f2c0-446c-8160-695726615c01 CLINVAR:935900 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f053282c-8c21-4b1b-93d9-a964ee0ae594 CLINVAR:189065 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffff35d1-895f-4387-9294-4ced56ea0b08 CLINVAR:189065 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3540fd42-2547-4fd1-b1d6-a01f235b92fb CLINVAR:189188 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46e2fdce-f8e6-4ee6-95f7-8b988c9598c7 CLINVAR:189188 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f4bef58-4dcd-4535-900e-ff1df5b8e884 CLINVAR:664582 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 946bd3e0-ed11-4c5d-8379-2f31b4b564eb CLINVAR:664582 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 69ad0f54-0250-4fb3-b875-4ded9bcdae2f CLINVAR:972792 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c6b3f74-34ca-410e-962b-df3ddf7fa4fd CLINVAR:972792 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42c9ff86-216a-4adc-85be-eb9f77fd4e94 CLINVAR:972793 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f478f6a-2959-4c72-aaa7-c4932d2c2aad CLINVAR:972793 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 746747a2-542b-4bf0-8648-364366b623ed CLINVAR:526532 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea1fcaa4-7448-4370-88dd-419fbd775aba CLINVAR:526532 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 41abc4d0-1027-4e93-ad00-458dd4011810 CLINVAR:556853 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ec0b3f5-30ff-4197-8457-be7de174bc61 CLINVAR:556853 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db1839dd-dd1f-4b48-94a7-0961971d1687 CLINVAR:932903 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ccbfd67-f3fc-42d6-9fb6-c9eef6d7f79f CLINVAR:932903 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de06dca9-5adf-4ef1-a1df-5bfd77dfcaeb CLINVAR:288505 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3206fffe-9fed-4ec0-8074-313d2f897b25 CLINVAR:288505 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5f6859c7-e62c-49bf-ae94-fecc84f0d69b CLINVAR:2683630 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9ff8e4d-ed71-40ab-b7f8-5a2219ecb465 CLINVAR:2683630 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 887720aa-b336-49ba-ab02-0b296b839bd0 CLINVAR:553981 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6828e377-a6e0-4dc2-b3f8-7eeb885e752b CLINVAR:553981 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d59e5cd-99e4-47af-b18a-1a8d9e570308 CLINVAR:984801 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d16722a-0809-44c0-a195-209eaf623a8e CLINVAR:984801 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ff182ae-d5db-481d-8ca7-4580361b4228 CLINVAR:550104 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 293b8cf3-11a7-4cb2-b6e9-c0e3d1e1a52f CLINVAR:550104 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e0a641bb-cda2-4baa-bc29-d17956d3996b CLINVAR:188880 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb260c54-161a-407a-a661-98359c9cf2da CLINVAR:188880 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c95750a-15e6-48b0-a0c6-b66c626d69f8 CLINVAR:556534 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b82efea8-2e4b-4b52-9fe6-673eb18115bf CLINVAR:556534 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c2581340-7eb3-4cee-8518-436bf7c5c23c CLINVAR:188806 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5b429b1-1d15-4016-b2e1-86c6d8a3c49a CLINVAR:188806 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 263f7228-e53b-4547-a30b-fd6cbdafdd07 CLINVAR:556117 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51077f01-7ffa-418d-9ffa-5c2645991e04 CLINVAR:556117 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 36218158-843e-4fd0-a019-e4bd7125c419 CLINVAR:656144 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5137ddc8-7271-456e-888c-ed5b4b392e51 CLINVAR:656144 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9bc6c47a-e0bc-42a3-ae85-952559119319 CLINVAR:1327504 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da91ca07-f0df-4529-9d23-2ed2d431460f CLINVAR:1327504 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1d6b1778-d2e9-4d54-91bd-07e0b16a37f3 CLINVAR:3544353 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1c96ac7-7a79-45c0-9718-7dd6490669b4 CLINVAR:3544353 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4177a6ce-5cae-4fbf-8382-380bdf35d70f CLINVAR:283894 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e96f8aa5-a7d0-41c5-aba8-9dbc452d7e97 CLINVAR:283894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 26a205c2-73bf-4514-a2b7-155130d20a16 CLINVAR:281052 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 728dec25-3ed1-49e4-839b-2a5dc05afc09 CLINVAR:281052 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9cadd79b-a50c-49a5-a3d0-b107f1bc7971 CLINVAR:225114 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99565ae1-c242-4d35-9b39-8848f7f7759c CLINVAR:225114 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aa2f5ce4-eff1-4346-8334-1b1ddb748c8e CLINVAR:956209 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fbb52892-a3b8-4508-abea-e37012e234b6 CLINVAR:956209 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33bb0c82-9419-4d2e-b370-a121f3a0ba7b CLINVAR:1327502 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9384ea8f-23e4-4366-ae3a-cf04b7055790 CLINVAR:1327502 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9069a807-576e-4b78-a71f-c84db5319af5 CLINVAR:637958 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1aa2635-efd5-4226-8c77-143d4a11fb5b CLINVAR:637958 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a631cff-f3f7-4ad4-8f6e-2a63d2171ff7 CLINVAR:4036 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8a9e0cf-2bcb-4641-ace3-3137a6829b3b CLINVAR:4036 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 646baa79-c255-42b9-8c7e-077c96da38cc CLINVAR:953728 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 578c0624-cb09-41b5-b44b-6445d3e6da8b CLINVAR:953728 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 966c86bd-81f7-4d3b-994b-273e5cf08b7f CLINVAR:180144 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f3ebd78-7dc3-4e1e-82f2-357bd6a4f60e CLINVAR:180144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b49287a9-f4a2-4122-be8c-b5144f71b439 CLINVAR:4025 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d218bf5-cc14-4878-923d-9247200dd190 CLINVAR:4025 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 18db82cc-cd4d-4e09-a374-c49e8b8a31c8 CLINVAR:188797 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a40d608-68ab-4321-8d3c-6fe70a45a26c CLINVAR:188797 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 517eba5c-9676-4999-a772-0db6821e5265 CLINVAR:282254 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3837e780-eaaa-43dd-9038-6f881a9937a3 CLINVAR:282254 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e58a1fd8-ef26-429a-aa32-2508278be6b1 CLINVAR:558700 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5354ef7e-c13b-48d7-bd12-b179d8f3e1ad CLINVAR:558700 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 797b78d0-03fc-4007-972a-e7f7b248fdfe CLINVAR:4021 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d855c8d2-7fef-4f0f-93ac-f61dfd3a3089 CLINVAR:4021 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6aeafe3f-da72-4c94-82cb-9a46ee7b2fbb CLINVAR:932905 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e84e817d-a661-4d9f-9898-5db4ea7a18a1 CLINVAR:932905 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ffb64b17-97f0-4b51-a671-8a2a0f01b108 CLINVAR:1327501 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06ac698e-6b04-4deb-b334-fc9f9e785437 CLINVAR:1327501 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a99d6de3-9219-41fc-84e6-a72cb73eb7cd CLINVAR:550355 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0de17e84-a4ca-47ad-9219-4d9fa27847fa CLINVAR:550355 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b51efcb4-fba0-4e64-83dc-3d58759bed64 CLINVAR:843318 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43561bfb-d7d2-40b8-af12-74a0549cfee2 CLINVAR:843318 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3aa87fb3-a960-4174-be37-d2dc3f58cc79 CLINVAR:284864 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d046d150-6455-4d38-8dcf-97ae39cfc31b CLINVAR:284864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 16c4af56-d967-4f30-9f13-27b0b98ce41c CLINVAR:972790 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5a7b402-7006-48a8-8f1e-1b0f1d6a04b1 CLINVAR:972790 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e67991b8-0e32-4f1e-8929-e4a548c9e5f4 CLINVAR:180142 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb96a7f4-e330-45ad-a5d8-6e7f493a6405 CLINVAR:180142 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ca841a5f-5ebe-4e3f-982c-3b9d91bc898e CLINVAR:597147 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 359add7f-304f-4465-bf19-5ec16f7b495c CLINVAR:597147 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 530a94c5-2731-4bc1-b339-ecff3f10e1a2 CLINVAR:188841 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a4a3bf6-5208-4a14-8970-9efba749b410 CLINVAR:188841 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2bac314c-2eef-40bd-9d6e-fe393b58f382 CLINVAR:1327499 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c1e8efb-a975-4360-aeca-087cba0e9547 CLINVAR:1327499 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fd2e6971-0459-43d5-b137-c69eb828f1ed CLINVAR:423925 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4242fa6-2128-4897-bec9-097f5056a927 CLINVAR:423925 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a1c6e753-33cd-41dd-8340-43cfa09d2901 CLINVAR:284093 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cd196e4-b65a-46dd-8952-8629b38921cd CLINVAR:284093 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a680eff-6bd8-4c67-a22e-b3a8cab8793c CLINVAR:2727745 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abe24cce-cdb5-41d0-9ada-14e58c1b1879 CLINVAR:2727745 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee8ea296-51e6-45e7-aa9c-22c2bf5b3953 CLINVAR:420101 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 261694a4-1cb7-4dc3-bc4c-bff6a8c86b70 CLINVAR:420101 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce914562-6b9c-4ba6-809e-6450dd888463 CLINVAR:370278 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar acabce15-3774-4617-8707-a9b7e8edf301 CLINVAR:370278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90e6d95e-a0b0-4ca9-a0f5-4dcb1d26315c CLINVAR:1353052 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdc97b58-1063-4e21-96d6-9cb25094f1a1 CLINVAR:1353052 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45357190-4eb5-4296-ae54-3a95976e96e8 CLINVAR:289367 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a86b95f5-3de8-48cb-8d6a-bbce95258038 CLINVAR:289367 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2bfa6988-f464-4b04-881b-c0597650411e CLINVAR:403712 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7918f5c4-bc80-4028-bf86-097123a2a2f2 CLINVAR:403712 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0c81783-8dd8-4a0a-9fe8-7040f80d16c3 CLINVAR:370810 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cca6b453-5851-4bf0-a1c0-a18ffb39ded2 CLINVAR:370810 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b7c0870a-5a3c-46e6-879e-c40d9c942da3 CLINVAR:555820 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53194943-d970-488d-9eff-69ff0ab05a98 CLINVAR:555820 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 62812584-8427-429d-99c9-c0bf387709f3 CLINVAR:1037598 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00976143-adf2-4797-b471-ea8e3eeb32a7 CLINVAR:1037598 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5ff30694-662f-4823-865f-4c9981569e10 CLINVAR:1034639 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cf40111-95ea-4e21-bdd9-8f29c0fb47db CLINVAR:1034639 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d64514c6-dd47-4bd2-8842-7812aa2473c3 CLINVAR:283230 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a3ec875-2b36-4c3f-b9b7-2340e80c6745 CLINVAR:283230 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27e1f276-043d-4081-9f60-e28454d13d2e CLINVAR:497032 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 373cf765-ddb9-4a70-843a-fb246185d85c CLINVAR:497032 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e850c4aa-8b14-42bb-91a4-3ae9dd30917f CLINVAR:189041 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0570c595-f913-46b6-8219-d9a7b58d0dc9 CLINVAR:189041 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 315f0322-7b08-4908-9659-cde978b1c90b CLINVAR:595469 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7999ebf6-7c8d-4815-adf2-3e2308304f4f CLINVAR:595469 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11bdb508-7db5-4bab-9ba1-142149f58536 CLINVAR:370263 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09980422-48f2-4a7d-a1d6-4c1c547fa9ed CLINVAR:370263 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 736a121f-9ccf-4950-a3a2-766ef219b708 CLINVAR:501294 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2c490a5-ef63-417b-96ed-fbd71a73a71d CLINVAR:501294 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 105dd661-5ff7-498e-9524-b46431715332 CLINVAR:188858 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4db18ad-d58e-488e-86c2-59b7ab49d61c CLINVAR:188858 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b33bd38-f1b9-45f7-9c86-d33989aea61b CLINVAR:370510 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e7d1977-68df-41f5-b191-c318cfad4dd4 CLINVAR:370510 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 670f32f4-94de-42c7-b768-43df13475b9c CLINVAR:371457 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb6c7dff-e4b7-4a93-a293-4f0b63257c2d CLINVAR:371457 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 13f7659e-9e59-4c02-8084-df5b5de8ab86 CLINVAR:930445 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ce5dad9-05e5-4509-abf8-bdc8256668d0 CLINVAR:930445 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8655d02c-e471-4ac5-996c-f6f5b93d308e CLINVAR:657348 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c69e6923-ba97-4e08-9023-f4cbc430eb37 CLINVAR:657348 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3cc5cb59-c1d7-4a70-a94d-e445bfa72fc4 CLINVAR:959950 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4d7f429-9dbd-44b4-a6fc-dea8ef4b951a CLINVAR:959950 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 93e5095d-39ae-479a-a4f7-07c3162b1b92 CLINVAR:552776 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87916ee3-0b39-490c-b7a4-aa50589e2040 CLINVAR:552776 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6eb8ed61-6816-417d-abf2-e5c090795d98 CLINVAR:371235 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae1e132b-8693-4741-92cd-d8bac156411d CLINVAR:371235 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d4f37891-e9fa-42c0-b22b-046e7eedd807 CLINVAR:2736673 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db1eb053-f2e7-4db0-970f-0c0dbec1edd0 CLINVAR:2736673 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b77a2adf-dbe9-420d-81f0-be178623b389 CLINVAR:552165 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3e8c3e0-b692-4da3-a245-303fbfca81dc CLINVAR:552165 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b97c346-cd6a-47ad-a41a-f8ef8c481105 CLINVAR:189082 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05cf51d9-4d8a-434e-875c-2ec3a38850aa CLINVAR:189082 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f767e40c-fca0-455b-b8af-dd1605f306c8 CLINVAR:526518 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 543dfb43-6189-4a40-a361-e665cb14aa80 CLINVAR:526518 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b4e772a2-0922-4d76-a35f-f4f26e4cd71f CLINVAR:371305 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2017509a-00d5-4632-8d31-7af7ba31f9f7 CLINVAR:371305 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21d087fc-d07b-4e9d-b83b-a2f36083f970 CLINVAR:597944 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f85bc33-f87f-4536-9001-e5118cc8be69 CLINVAR:597944 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82d30e23-31e1-4cbc-a965-af973026674a CLINVAR:972762 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24c11d23-eea8-4ff5-8877-db9471dbb8fd CLINVAR:972762 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6180b52-aa2b-4e92-ab14-399e026089bf CLINVAR:984799 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b22cb69-e86a-4c7d-a435-09a87720b871 CLINVAR:984799 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c6a189d-4d22-430b-a444-a6b8813a590f CLINVAR:1693548 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 18575f6b-eef7-4463-bc01-46dd57f87bd7 CLINVAR:1693548 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9eac8ee7-819e-4a5d-9409-8f06af839b91 CLINVAR:933520 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25102b5d-b5a6-4506-aa64-de229d9a0b9d CLINVAR:933520 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ddf63a70-37f5-478b-bfd1-f5cca983efae CLINVAR:2840512 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68b72711-1beb-445a-b1eb-efcad79656fc CLINVAR:2840512 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9917a403-9a61-4391-9e94-f20a04408c89 CLINVAR:285589 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 611f3e61-3ef2-4851-946f-7b45d464f272 CLINVAR:285589 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cb5a3ab7-759d-4297-ad54-beb03a392eb2 CLINVAR:932895 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4c7f883-8e3c-46de-9450-2ca34e0840ab CLINVAR:932895 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a80b128-ee72-4dbc-909e-2ac79833314a CLINVAR:188874 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9f89430-bc5f-4bbe-bcac-e08922ee181f CLINVAR:188874 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d36288b1-3a70-4227-b9ee-193cf0133200 CLINVAR:694453 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 029f3cf1-f403-41a0-9b91-5b4fa7bb99a6 CLINVAR:694453 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efad6710-1232-4fa3-bba7-74e78fcfe054 CLINVAR:551295 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50c64662-5793-4979-9a6f-131f9da98aae CLINVAR:551295 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93039683-d818-418c-af1e-9740eeae71eb CLINVAR:3241647 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32db5757-ddbe-4150-94ea-129a975ab42e CLINVAR:3241647 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4445fc68-d5a5-42d5-a652-e2ea91c066b5 CLINVAR:555864 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02ea9d7b-4dc3-4e39-8c7d-8c99dbb51c49 CLINVAR:555864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f1f3fba7-ef3d-4925-8a95-2502a65f1e10 CLINVAR:849313 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d60cd74-d775-49fd-a008-84f968e3997b CLINVAR:849313 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 73369ca5-fdf9-49c2-846a-bf7f7b0650e6 CLINVAR:1322957 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 392462c4-0b2d-44bc-8b8b-e15d3dc1c1dc CLINVAR:1322957 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9f240be5-f69b-4f7e-81e0-c451aaaa3e3f CLINVAR:526521 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 142902fc-c68e-457a-938c-ad4f16c15431 CLINVAR:526521 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a9c50d9-b72c-4157-be6b-6360aa6ae292 CLINVAR:189184 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d251a421-349b-41dc-ad9f-c144828cb582 CLINVAR:189184 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db2aa488-2934-4db6-bcbc-4a0021227d45 CLINVAR:189007 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22ac6b56-255f-42d6-94b1-796262353444 CLINVAR:189007 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8a859fce-d437-455c-8417-06575cae1b81 CLINVAR:1067574 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d21f129c-4d8f-464c-9dd3-942aad5d77f1 CLINVAR:1067574 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5b5fb47b-14ea-4613-bda3-29aa32a9c70d CLINVAR:982297 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93d0b877-b4a4-4179-bf60-644206791c34 CLINVAR:982297 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e48a16e1-ef0a-4c42-b5f2-1d64539aabd0 CLINVAR:285157 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 960e8507-71e2-4cd8-bc06-63ba7a5461a1 CLINVAR:285157 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 595f84b5-a8d9-4ccc-bcda-fe4fc73e3d6a CLINVAR:92465 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9016b5e7-6cc4-40d3-b611-8a63dc6a5278 CLINVAR:92465 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e341781d-9f8b-4db9-9882-0e2427a4ea04 CLINVAR:2160730 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4181919-6089-479c-8659-4ce7aeb39ef2 CLINVAR:2160730 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b8ddc441-2f51-4308-93bb-1de936bdbecb CLINVAR:379593 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55064b66-b36c-4a29-acfa-9049d20b67b7 CLINVAR:379593 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d8d32507-6c1f-4f7d-88f2-b25b635a0691 CLINVAR:556959 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80550808-4517-4edb-9846-90994c3fd997 CLINVAR:556959 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 250e5e1e-ca43-4ffb-9504-d670839558eb CLINVAR:1711447 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eb117f1e-f5dd-4191-886a-e8cfa532099b CLINVAR:1711447 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9ecc680c-49ad-448f-b59b-fc7f9a319478 CLINVAR:960182 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53d73eac-f19a-4226-80e0-70dca273524d CLINVAR:960182 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0cd81cba-fb69-4889-bb6c-88aee9c72eb7 CLINVAR:638014 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c784432c-3e4b-4f67-b065-efbe76e6376f CLINVAR:638014 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d68ff3e9-8a3f-4638-aebc-12d2e1551acd CLINVAR:189025 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b66407ab-0218-4367-bdce-d91eab797c98 CLINVAR:189025 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 40f5bbcc-fc86-4b69-94ac-49ac4e6f2b41 CLINVAR:3906936 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90cc8830-1c99-4434-bc9b-535f35f35681 CLINVAR:3906936 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5cb663df-dbc0-4ca6-8a70-996984ca39c6 CLINVAR:1065143 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f53f62fd-aac1-4d87-b3d7-88319110a088 CLINVAR:1065143 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af789984-7924-4f0b-927f-08f06cef8329 CLINVAR:554983 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e3f385a-2300-4861-9e2d-2f4f63a2cffb CLINVAR:554983 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4cb64545-a14c-4987-8f60-d7c0a6613f48 CLINVAR:555986 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 073e6f6b-de78-4d8f-a468-a1a53c17391a CLINVAR:555986 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42041716-f96a-4aa4-b271-8af6b2add75b CLINVAR:419722 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bab49750-71af-4769-9d2b-769ef76c7a4d CLINVAR:419722 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3a44fafe-c214-451e-85f2-19f52c5bf63c CLINVAR:2440386 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2111c656-194f-492e-acc4-25bc3d2ba7e9 CLINVAR:2440386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aedd5ced-a506-4ad5-b618-5e994f9fd6d6 CLINVAR:189124 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9105ef4b-5b2f-4500-8b0b-06dfd9180384 CLINVAR:189124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 28056211-7ddc-471c-8a62-474f070c641b CLINVAR:4022 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5773d382-1f3b-4650-bbde-30fa2bf44414 CLINVAR:4022 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7183a2a2-f792-41c5-bd47-146627e586b8 CLINVAR:972760 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 198556ad-0878-438b-9f23-ec7a88c3ccb7 CLINVAR:972760 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f0b3259-3d5f-4805-97d7-34349a98e4fa CLINVAR:371277 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 104b3b52-4a25-4398-b912-8e46c47ada3b CLINVAR:371277 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d51bff6-ed05-4333-9be3-5388bb1672ed CLINVAR:972746 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f98b3860-5496-42eb-82ea-b7954108b569 CLINVAR:972746 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9c5c8514-2c4f-40bf-8437-7421f9126548 CLINVAR:371433 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 186b899c-7726-41f4-9c1d-520369880ef9 CLINVAR:371433 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 612baeac-11f6-48c7-904e-21166051684b CLINVAR:952947 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2e4369f-cf2a-497a-809b-9611b33ba2bf CLINVAR:952947 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ab9a936d-da7e-40ff-92e2-5a1de2aae02f CLINVAR:1072906 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c9a37fb-2b17-4849-acfe-c3683bb3a6ac CLINVAR:1072906 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf52220e-19b2-4f00-a5de-de70ff9302bc CLINVAR:4026 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e311d31-e883-42ff-a9ac-8535b239faaa CLINVAR:4026 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e0ca5729-2f1e-4e7e-aba5-a2acaa1696b4 CLINVAR:1693551 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61458c5b-e25f-4f00-80db-0b85366013ca CLINVAR:1693551 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 17da13a9-6906-426e-9e71-3032e1ccc422 CLINVAR:3769497 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fbbae5a-51a2-4b01-8054-6fe37413af59 CLINVAR:3769497 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4ca52bfb-26d8-431d-b3cc-1e55f95d61a4 CLINVAR:932899 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b9ed0b7-b30c-4bf6-8bfa-24fa1172a384 CLINVAR:932899 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f77b82dc-9e45-4df4-a7b0-95a735e390e2 CLINVAR:279811 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74e96447-8e71-4e8f-91f2-462a54d27e01 CLINVAR:279811 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9e3cf04-3210-4212-b909-b5912fab901c CLINVAR:982109 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91bb6bb5-62ba-4d7e-9223-24b49865d272 CLINVAR:982109 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 23f6c1bc-a803-452e-a740-0bc5f6e516e0 CLINVAR:558634 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99c9223e-406f-40ff-9585-dadfc1d06d04 CLINVAR:558634 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f1573e4-25d1-4739-99ce-fc6b27eaec34 CLINVAR:1693547 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f990d2a9-96a0-4817-be15-a6e575472ca8 CLINVAR:1693547 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 22aeb251-e73b-420e-93bd-15e364820047 CLINVAR:370357 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe0e34d2-6246-4b69-8552-a8b708430bd6 CLINVAR:370357 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 09d4affc-a5ac-4db6-b19b-1c8f529f0cab CLINVAR:520974 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 694549b4-fd94-4724-9ceb-687f3cba323c CLINVAR:520974 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aa90f594-f7f2-4e97-b551-b6126c8d1276 CLINVAR:1693545 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78d72fe2-2343-4aff-9676-43eb4fb1ea1b CLINVAR:1693545 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6758735-ec47-45db-8a13-82e9d89002aa CLINVAR:555153 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51b95b70-a085-4368-a36e-f09855b2ae14 CLINVAR:555153 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eee3433c-b5cd-4265-a2e0-313a46b3a508 CLINVAR:929167 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 117e7fd9-d9dd-4e16-8384-e8e67e82a538 CLINVAR:929167 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e1dcc0bf-cfbb-4be8-bfce-3a557c4b90d2 CLINVAR:972744 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1781967-ac40-4b81-9ed6-846a80791485 CLINVAR:972744 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5646707-42d4-4179-a8dd-b28064b174b0 CLINVAR:495664 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b086f8f-c51f-4948-9313-1e3695248b15 CLINVAR:495664 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c801c9eb-67a2-4aed-91b7-1e316ad4f954 CLINVAR:286458 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d247961a-daaf-4e35-b7a1-266620f7dcd7 CLINVAR:286458 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00b3a697-7776-4168-9637-e9639abcb350 CLINVAR:2736680 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 07717e0d-bed9-412a-8515-7834feb23e1d CLINVAR:2736680 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d8d26de-cbf2-4255-9ddf-e59a7829687d CLINVAR:1945670 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ddac7cc-4cc3-4fba-bacb-8eb69f7a8e3c CLINVAR:1945670 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2fadf465-1d87-4ae0-b1f8-0a787bbc052a CLINVAR:1687091 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1ddc09d-3c54-43a6-b24a-6bb5a5b151a5 CLINVAR:1687091 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e87d4de7-df66-4201-bec3-3925f975d8a5 CLINVAR:972747 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2801bc7b-f2c6-417e-b6a5-f2cd36f4f027 CLINVAR:972747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 922bfa39-a701-4e17-943e-3fbbba26b64a CLINVAR:289361 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd71db1e-4ec6-4217-9ea0-e69178b5432b CLINVAR:289361 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6ddc7b5c-ee19-4ae6-85fc-9076f7f5d1c4 CLINVAR:551558 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd2dbb9b-99f9-43ba-8b64-164786c263ed CLINVAR:551558 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 66a71de4-38c1-445d-af55-021e57ad65ce CLINVAR:640911 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7bf4fb6-929c-49d4-8798-529af70e79b1 CLINVAR:640911 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2fa17071-3ab0-4ac6-9705-7f9336c5dc14 CLINVAR:370130 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ebb91ce4-5fb3-4797-afa3-97421a450611 CLINVAR:370130 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16f78ef1-c21f-4944-a58d-ec0648920cc1 CLINVAR:593486 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f6317fd-53e5-4330-a8ce-e245ae086d7a CLINVAR:593486 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57466d28-454a-4e08-8d0a-b472f32f9010 CLINVAR:501793 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d00e08d3-e125-4796-876a-dc3113496eaa CLINVAR:501793 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dd6e7889-7a4a-4969-848b-c797208b13e8 CLINVAR:194154 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8b8ca1e-55a4-42fb-8e33-4477882663b2 CLINVAR:194154 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4eda676-6556-455f-8a79-95330295187a CLINVAR:3235260 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70d701e2-e815-450e-8886-39db28d1f448 CLINVAR:3235260 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c357cac4-f7e2-413c-b5e3-3693aa7beea7 CLINVAR:932221 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da4c16cc-aad4-44c4-b3f4-c16cd439b15d CLINVAR:932221 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 335c9e7f-09aa-4845-a23a-fb3fe9c5514b CLINVAR:370866 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7655bdf-e839-4fd0-a6af-f2243847c88e CLINVAR:370866 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18717f8f-92f2-4ec9-8218-753474c0ca0f CLINVAR:972803 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68fe2502-8892-487a-93c7-694f7c5216f9 CLINVAR:972803 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31e78b12-d5de-4e74-9f1f-c35d385f5c03 CLINVAR:189144 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66ce77a1-3164-4a13-8258-683ee51a8bb1 CLINVAR:189144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca4b9ab7-4a23-4ae1-94b0-1909881df5e7 CLINVAR:188936 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c91cb09-a7bc-45ea-be2e-b339f37c8f53 CLINVAR:188936 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c46e3c57-cefc-4098-893d-a7645a0815ad CLINVAR:2138117 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 982ea41c-6a64-41e4-8994-800d3b3c9ab3 CLINVAR:2138117 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e7b5c09-1a3c-4d52-8b31-7dd846ee67c8 CLINVAR:935199 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a47d4889-7ecd-454e-8d39-018b72e0974d CLINVAR:935199 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 958e489a-9a77-4176-b81a-c80e31c92509 CLINVAR:371226 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce711d01-6fe1-4edb-a7be-f96f7bb20176 CLINVAR:371226 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8a3e2ca2-6776-4592-803b-74cc9fc792f8 CLINVAR:167113 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d68322d6-a964-421c-a268-21cf9955b7aa CLINVAR:167113 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 723f475e-abf3-4e5d-88f9-415b418a789f CLINVAR:286469 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67f1b949-660b-43dc-bb66-5195e185951f CLINVAR:286469 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 29126355-5768-4a70-9199-3e745a16cf22 CLINVAR:188786 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25a7b946-94f8-4ca9-8dc6-aa3a1f7531ff CLINVAR:188786 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da1df225-3d1e-4101-9cf4-662094ca36e2 CLINVAR:693996 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27d6117d-f89e-4b06-91d9-4b02e5fd1432 CLINVAR:693996 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4946a5a1-4597-4e40-b408-4286fe216ad4 CLINVAR:1710193 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10d53e5d-5932-49b9-b166-728bcd60ca17 CLINVAR:1710193 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05be33c5-8826-49b1-b214-6c4226a54042 CLINVAR:370146 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ccadf70b-789b-4100-b7e6-e2e3fa662990 CLINVAR:370146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c3bcc0e-d533-4f24-9a7a-22e34ad031b0 CLINVAR:550825 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e577039a-ed9e-41a9-958d-112ece2fc4c6 CLINVAR:550825 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db31337e-ec16-47bd-911d-8e24891536b5 CLINVAR:597382 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 282c8389-6eb5-4473-a140-3ffcb637260a CLINVAR:597382 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0affcf0-9a50-4cc4-880e-b8b3de6b9d60 CLINVAR:1348299 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b706a64d-535f-4582-a5cf-74db496a9fb0 CLINVAR:1348299 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3c7aaca7-f515-4fa6-b354-e61c9e6a13cb CLINVAR:632823 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e62a1fc5-17d8-43d7-9ab8-0e3bf1c6a6e3 CLINVAR:632823 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ba072f84-bf78-4ccc-8ec0-486ded40fdcf CLINVAR:280954 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03c92c0e-0ad9-495e-bc62-2ff5fa0c8f27 CLINVAR:280954 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cea4b35f-de4b-4fc6-b712-030a527b800d CLINVAR:928930 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7f86526-ca39-4a13-a4a0-9ecd8d9439b2 CLINVAR:928930 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db171d77-02f6-40fe-bd9e-de250e5ddfe8 CLINVAR:4023 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0918a78f-3944-4cdc-9f0b-a6aa75fa55cd CLINVAR:4023 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ca5d38f-574f-4094-b8ea-4a0b107b39ef CLINVAR:1411575 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e09febe-9de9-4153-a778-b790d1325b6c CLINVAR:1411575 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8465f529-0fa7-448b-8a6a-774391471c89 CLINVAR:188728 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98e33967-f887-4c22-b0ed-39dae3535365 CLINVAR:188728 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a374a536-b320-4133-b3c0-6d2035b68d5a CLINVAR:556386 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dee98a74-8558-4442-9044-0d34293af42d CLINVAR:556386 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cda7ed42-9b62-49d2-82bc-e8f27d8ecc7c CLINVAR:4029 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b12f458-a6f9-473a-8d71-438c4a90b1d8 CLINVAR:4029 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cbff6617-28f8-4291-ba76-ad082b86d988 CLINVAR:663894 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7202d61-703a-43ef-9ecf-6c9a46e22637 CLINVAR:663894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 19f99ab4-8a50-4720-928b-20855f5f6721 CLINVAR:550327 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7ac7de4-6d24-4cf1-9ed0-5bcc11d0eece CLINVAR:550327 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 910c3fb9-3352-41f5-af71-4318f66cdd3f CLINVAR:188902 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d03dfcd6-2359-45a3-8da3-362079702a01 CLINVAR:188902 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce28eabb-4ce5-47be-87e9-149e294f453e CLINVAR:632822 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81057a46-e2ba-4ae5-bb1e-8086dc857a6e CLINVAR:632822 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56085cfa-7e13-4d7b-aa16-f306b9456f09 CLINVAR:633225 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae0057ac-bc66-4f85-adee-6eaecc9f5604 CLINVAR:633225 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89b8a1a2-4f7b-4afa-881a-6877c7cc2190 CLINVAR:972798 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 853a9745-ac46-441d-9c1d-4c7f2d734469 CLINVAR:972798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3d6196c6-043c-45d9-9ce1-bb74e7cbc3ca CLINVAR:372968 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5695d782-e618-472a-9f34-b15c76500fda CLINVAR:372968 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 417307b7-4d8a-47e8-a91f-382437eee480 CLINVAR:932896 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8382fc8-8252-4f14-88db-42c3892d8475 CLINVAR:932896 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48a4857f-b91e-4a12-b974-22bf128f727f CLINVAR:558604 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf450b47-7cb4-439c-bb62-ab457a72e52c CLINVAR:558604 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 460a416a-acdb-471c-aa6b-69af7668737b CLINVAR:189172 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57102983-5552-45a5-8cf0-173ca093d506 CLINVAR:189172 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c37664a-6c9e-4734-b55a-549b37af5a04 CLINVAR:546808 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac1d0094-6c9f-4b31-9662-05d5e19799ae CLINVAR:546808 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6c92f96f-6473-43d8-a81d-06931c7a3d82 CLINVAR:188773 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddef95fd-d5a8-4f37-b337-89b4f40078a6 CLINVAR:188773 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8732ba9-5a35-4397-b1d8-db73b0558281 CLINVAR:371126 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b177b283-3c6e-45ae-b212-c67cdd9f51e3 CLINVAR:371126 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1d0a42c3-8e94-4f54-b8a3-c7bd73bf4c84 CLINVAR:2675756 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f281b76-c9d2-460f-a201-dca5c2ef39ee CLINVAR:2675756 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d77fcfae-4e53-405b-ba21-7443e4185212 CLINVAR:984800 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57a667d6-fbcc-4a51-b466-a1df838eb751 CLINVAR:984800 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5ccb40cd-09cb-41cf-98f2-73bc3e8bd3da CLINVAR:370998 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 207f9647-62f5-4a51-906a-ded6c763dbd1 CLINVAR:370998 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55b2c519-b9dc-477a-8f07-8d3b206af21c CLINVAR:1322965 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b525c965-ea87-4c9a-a972-2ea4b621ee63 CLINVAR:1322965 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9aed68e4-0bf7-4694-93b8-e0438739411f CLINVAR:423932 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a36c3b4-7841-4706-9de9-20f43a8adbaa CLINVAR:423932 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2494d7ab-6be2-48ef-8fee-1ab6925f8e26 CLINVAR:189040 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2838ee41-5f9a-4a17-b183-ede539bf544f CLINVAR:189040 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e88088ba-aaff-400d-9152-bfb10199bacd CLINVAR:426278 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 258392b4-485c-40b4-a150-29a515403f29 CLINVAR:426278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 165fa909-7591-4421-b7e1-2cde44588d77 CLINVAR:92472 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a998cd9a-32b3-45e7-a4a4-ad474e6c8e01 CLINVAR:92472 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44fdccb0-2286-4b1c-a487-d4acb9cb1501 CLINVAR:556718 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb86daa8-ef35-4a62-9997-8904ce4f7a87 CLINVAR:556718 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7d5c8e4-6a26-42b8-ba85-13747fb17c24 CLINVAR:188904 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3dd22406-c28a-4d15-94ed-76af67c900b9 CLINVAR:188904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 66fb29fc-b5e4-40d6-aaee-b4430f482f0e CLINVAR:550277 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7726e889-0542-4686-b0ab-f693f3c27112 CLINVAR:550277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 79ecd4f4-0843-42bc-8f51-6496eb92d318 CLINVAR:932900 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b06db93-681c-48d7-b86c-9ea88fe4a4d3 CLINVAR:932900 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 075688d7-7242-49d9-bc99-c34238b5329e CLINVAR:1322967 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e4b8e7a-8618-4009-ae38-c5f60226f7c0 CLINVAR:1322967 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 260e04a0-6a0b-4443-995e-349832ef3628 CLINVAR:932897 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba75f756-3a4f-484a-8b68-001397e955fa CLINVAR:932897 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7877c9bc-0f76-4314-80a2-200454954f14 CLINVAR:4024 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cda62c83-a2cc-416b-a467-96a503e2f453 CLINVAR:4024 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec6bca23-889c-4940-9b71-e980db39100d CLINVAR:4086092 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60215ab0-6164-4708-b3b8-e0d655f3c9c5 CLINVAR:4086092 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 467b0aac-89d0-41ac-a9fd-5dcc7c0dabcc CLINVAR:370552 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e0d1a28-b1e1-49a7-96f9-e86a7b645ede CLINVAR:370552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4cd6c512-b8a1-4a34-9f30-fbb41187476f CLINVAR:495665 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c34516f-14f4-48f4-b93d-2c86bd4a671a CLINVAR:495665 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0e527f0d-45a7-414c-ba50-0f681996e30c CLINVAR:1409309 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9662d8b-8c1e-4897-96e6-0becdd9bd09b CLINVAR:1409309 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b059d65d-2a6a-4921-9e22-98109b9a9dc6 CLINVAR:370222 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5565fa14-7ef4-4ac9-8893-08efb3f62a51 CLINVAR:370222 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68ecc50a-061e-42b0-b2c3-4edb711008f8 CLINVAR:370223 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50f7892f-730a-4315-a2db-9c7959e0711a CLINVAR:370223 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec425d46-ce3a-4268-9de3-567d14791257 CLINVAR:370651 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9b918f4-024d-4bf5-b3c4-02c086debec3 CLINVAR:370651 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ee3d501-c078-496d-b9ff-d10f9507ea49 CLINVAR:370639 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f6579ac-4fe7-4f43-882f-5ecfdce077de CLINVAR:370639 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e321985-7470-4c39-b5e9-01a76ac79811 CLINVAR:280063 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96204158-fe86-4c55-916c-d38ea6fa140d CLINVAR:280063 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 59fe9ecf-9135-46ea-8611-cf9e5283cba3 CLINVAR:188484 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c9c2c97-f363-44ce-9376-cb2328bfc998 CLINVAR:188484 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e7245d21-3940-42b9-8033-70a084981ed4 CLINVAR:370904 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b00c387a-9e84-4a26-afd4-63416e9e2204 CLINVAR:370904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3986cf7-5466-4d5d-869a-8d002276daa3 CLINVAR:265160 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c6939a1-27d7-467f-b41e-b814a81c1214 CLINVAR:265160 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05ae1d9d-6300-4ad0-b17e-45b002cc7dc8 CLINVAR:1972115 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87ba85ca-244d-4361-9f8e-77336d89d175 CLINVAR:1972115 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fdd958d8-782a-496e-8c3b-2574999fc9ca CLINVAR:370268 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 35b07436-ca66-4094-96b7-732620ea4be9 CLINVAR:370268 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7274fbd9-ef82-434f-bc9f-56f4510d8457 CLINVAR:1322949 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32fd3b3e-cdfd-4ef1-9629-49b0e98e2abc CLINVAR:1322949 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34631a2a-f57f-4cd4-a50d-246052219745 CLINVAR:429727 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 367bcc65-0148-4127-8d0f-02d798ba8c58 CLINVAR:429727 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 008a1ab5-6c43-4765-a9a5-23aa08b6fc88 CLINVAR:370993 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05036978-21dc-4fca-8e2d-441ebe459448 CLINVAR:370993 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4fe8257-7765-4fef-a938-7ebf051c7d82 CLINVAR:420102 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2836f9e1-d09b-4451-8f67-70208029d5dd CLINVAR:420102 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7f126a9-cd19-4e08-afba-57d73fc826ed CLINVAR:285197 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16e2969d-bfa7-48b7-9544-24c3c695d022 CLINVAR:285197 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1144918a-286b-4942-adf0-fd23bd702d97 CLINVAR:555341 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a669c30-4d7b-46f6-b016-21ac54b568b6 CLINVAR:555341 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2d94925e-904a-491b-af59-9629135b9d8b CLINVAR:552527 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1f4b567-664d-4479-9dcd-ff8f91523d9b CLINVAR:552527 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5bd9cbb-3ce0-4fa1-a1ec-1a5d517bb62a CLINVAR:371281 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c0aa384-24b1-497e-aacf-6f3dcbdc930b CLINVAR:371281 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3d77026-ba8d-420e-aac3-27c926cc5bef CLINVAR:1308288 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0712b2f-23a6-4a03-90c9-90765406ff55 CLINVAR:1308288 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 84cec38d-b89a-4426-a274-98908651775f CLINVAR:558571 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddc329df-9fc5-41e6-8404-75c22549fc5c CLINVAR:558571 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9987aa31-02f5-4ded-b5d6-64277c0ed24a CLINVAR:1693544 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc644379-c8bd-49c4-85ad-1c548e895dfd CLINVAR:1693544 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 49ea9586-d4c9-46cf-b1c3-37b57bc3fcc1 CLINVAR:649354 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ebf8b9cb-d8b2-4c7c-95c2-046fc768156d CLINVAR:649354 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4a46efd-732c-40e7-a9a0-ae2c6423f6f8 CLINVAR:1327500 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7416115b-977f-43d8-ae53-02a438ecb1a3 CLINVAR:1327500 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef7d876b-40ff-4522-91df-599502daa14c CLINVAR:552368 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 989deed8-75de-4556-ac4c-92a51e523187 CLINVAR:552368 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e246b270-ccc2-4e93-a29c-47c926ec2651 CLINVAR:1693552 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ca6ea97-4ce2-45d9-981d-aa77840b3e80 CLINVAR:1693552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5a275390-db53-4273-bd88-f60175656f99 CLINVAR:1322950 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26979772-07a3-420c-938b-b28c06f51c20 CLINVAR:1322950 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4b0c0593-61c1-493c-83e3-7bf9c8d2d18e CLINVAR:456402 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e0b7c33-64d9-4081-a9ac-9729bb6fdb36 CLINVAR:456402 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aa2c1267-6586-4f02-87da-4e8c406c98b8 CLINVAR:1693550 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06b8e31d-2bcb-4794-9c74-499e0198e675 CLINVAR:1693550 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b0b17e3c-8267-48f3-b29c-172b4aefbc69 CLINVAR:657307 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fb9b522-4ace-441d-8b6a-4c4444376701 CLINVAR:657307 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f378ab3d-4dc2-4d3f-b769-07b23e297ceb CLINVAR:286229 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3bb310a-18b0-4837-87e5-128cd6e76429 CLINVAR:286229 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efabeaa3-9ee5-4ac4-920f-cac69b673e49 CLINVAR:92479 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00ba6314-0e86-40e1-8875-677e4fb29eaa CLINVAR:92479 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 317c0f3c-5641-43f9-bd98-e50f4bf26b62 CLINVAR:92480 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27cde905-0050-48ad-a09d-ea27a2c1a95e CLINVAR:92480 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 90aa42c6-0453-4f1c-8471-420397f95955 CLINVAR:4034 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b0538af-8b4e-438b-9ca9-8d5cfebe63fc CLINVAR:4034 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e197edb8-0d16-4df0-aebd-2e21f95a120c CLINVAR:3544352 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a8ac555-df0b-4d27-98f0-1254429ef3c6 CLINVAR:3544352 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cc813f6a-dee4-4407-aeb9-37b3dda59138 CLINVAR:189009 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e982cfed-2fbe-42d3-9aed-161b471e9849 CLINVAR:189009 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47e687fb-2497-462d-9512-1000bdc130c1 CLINVAR:550478 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9d2f825-2f8b-4931-a350-cb97aaf8f4e2 CLINVAR:550478 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 771a69bb-50fd-4b94-b0ca-6e05ec9bbc3d CLINVAR:188924 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0622cd5a-1593-4a8f-ab96-32d807b0cfa9 CLINVAR:188924 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 39e9352e-a2f0-4369-b2f6-bab457ba4010 CLINVAR:2825913 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adbeb8b0-9790-4a20-a988-ba3ff5026507 CLINVAR:2825913 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e70822aa-8b7d-4aee-8cb2-06bcd1fdd89c CLINVAR:555277 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e01fafab-0247-4c2a-b9f9-81ae2e0a6f96 CLINVAR:555277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3f14023a-2f43-405c-8e1f-46d1fc3a6e41 CLINVAR:597005 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fb17ae6-27aa-46c2-bf5e-9c42eb436639 CLINVAR:597005 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 564aa360-078b-4377-bfac-0a7a4de8ce17 CLINVAR:578595 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d44e810-1cb3-4ac8-bb97-2cda70a71f35 CLINVAR:578595 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6cf30dcb-b633-440c-93c9-4cebb9b001fa CLINVAR:370241 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bc7b788-7c4d-4036-ae15-1963d058b3df CLINVAR:370241 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4e54ddd3-545f-49fa-80ba-5e0e8489151b CLINVAR:554339 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3fa5eb68-3df0-4627-a43c-d88c38a43e3c CLINVAR:554339 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2ed198b2-4d42-436a-87c9-640f1608fced CLINVAR:1685834 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 699dcba9-a7a6-460a-b8d6-7bd1b617f6a6 CLINVAR:1685834 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 29412c59-ed1c-4c59-b41d-cf50e1b7ddfc CLINVAR:456415 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ff23f52-b4c0-4225-88d4-9bb7bd6ab9c4 CLINVAR:456415 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a62bed63-f6f9-4564-b292-4e6925e4fcda CLINVAR:286228 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c752371-2ae2-4318-b59c-c7f3f93b356b CLINVAR:286228 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4a4645ca-131f-471b-bce0-bac9c7ceb2fe CLINVAR:371481 biolink:is_sequence_variant_of NCBIGene:2548 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7c060fb-46ac-4efc-8f72-6d2b3ec8dd41 CLINVAR:371481 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9e726faa-8336-4be2-9073-e223cc2ef0fc CLINVAR:207545 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9a001eed-b732-40e3-b107-7f14597eb207 CLINVAR:207545 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 35f6e78a-fb67-4ee6-b1a8-8fe493802469 CLINVAR:212379 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b91182a-c89d-422e-8a78-237ac9b24fe4 CLINVAR:212379 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8764e02-3c46-4fe1-8c6a-fd49f74bf61c CLINVAR:524012 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2150f93-b1b1-4242-8bdb-98f9d878950f CLINVAR:524012 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 640d1381-8c64-488b-a2b4-230add5c2778 CLINVAR:393171 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3fdde737-47cd-4a7a-b1bc-c47814046afd CLINVAR:393171 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b25968e6-c2d6-4d44-8c76-93316c6e87f0 CLINVAR:1164050 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 962b8c46-1703-4cb9-98bd-37e1d1b1ddff CLINVAR:1164050 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4e9c8701-0798-477a-a7a1-dd378863bdf7 CLINVAR:598113 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0fd9a79-779b-411e-af90-ffc9a23a1d8f CLINVAR:598113 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1578ec63-da12-426f-9022-d849575de746 CLINVAR:1003911 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87686553-ff90-47c8-a3af-8b9023838a88 CLINVAR:1003911 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3538213e-0efc-48b3-ad55-6fc2fa889a0b CLINVAR:160079 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64be7bb6-d346-4b29-b4fe-dc89025580aa CLINVAR:160079 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7878091d-508c-43fe-9ff1-670a4404d80a CLINVAR:7371 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 884ad86b-09e8-4d51-9244-f47d7249bf54 CLINVAR:7371 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f94c7e89-face-4408-bfe7-ceb87232075c CLINVAR:7370 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4949b70a-210c-4a07-b394-2810ffe5b84e CLINVAR:7370 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 733592a3-0026-4e67-871d-58d9f83c5c6c CLINVAR:93542 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2a2e750-26ae-4135-8e73-48f8a5858bc0 CLINVAR:93542 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 055d7a31-190f-4c5e-97e4-742d3ccb0d8c CLINVAR:381549 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78285c17-b0a0-4761-8deb-90ab990414c1 CLINVAR:381549 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c549da1c-4782-4a46-a5a5-edb2bc8ff2d1 CLINVAR:690393 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e3ab3cb-c90b-4eb5-b972-12c6ad175889 CLINVAR:690393 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 553ee02b-a176-4611-a56b-e57ae26de353 CLINVAR:93540 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbb75857-a4c2-493c-9b9e-f4145ecab112 CLINVAR:93540 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 94d29bd7-508d-43d1-be8d-363e9777bf83 CLINVAR:160092 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9eb1126-0bb9-47bd-9c66-bab8cd01b061 CLINVAR:160092 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7812153-b589-4c5e-88de-8ca88ba65329 CLINVAR:432062 biolink:is_sequence_variant_of NCBIGene:6925 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar effbd490-258b-4ba2-8296-d9447b2a9e07 CLINVAR:432062 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d4b1bcf6-7529-4e78-9f72-4b1364f0c370 CLINVAR:3775038 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48e87707-837e-4ee6-af4f-7298ba616aac CLINVAR:3775038 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1ff8206d-61ab-4370-8580-a977d275a28f CLINVAR:2570640 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e882b7e-6526-496a-8529-1a7666956c2e CLINVAR:2570640 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c102219b-0865-4a3d-b4f1-269c3e413988 CLINVAR:2570639 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c1fa74f-93a0-4fb4-b307-0af408ff9eca CLINVAR:2570639 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5c4b4f2a-789e-44e7-bb08-ff4caf7eb317 CLINVAR:2570638 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3c62046-4aa6-48c2-8157-6015525d26d3 CLINVAR:2570638 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 560d2c88-27da-4f12-9995-d104771860f3 CLINVAR:2503890 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9b84423-673e-4ad2-b318-593aaddfb400 CLINVAR:2503890 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 95e3cd4c-481c-49c1-886b-f01aa686e2e2 CLINVAR:2570636 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cf0ef32-f2b5-41de-8357-9438f9d36c4e CLINVAR:2570636 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e3e8d327-d842-4cd7-8287-41fe91ba8292 CLINVAR:1409758 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ce80ed6-efb9-457f-8874-68f624c63ed2 CLINVAR:1409758 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 78b15740-a708-4437-bb03-cdc0eb7b71a0 CLINVAR:1067935 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03005502-b471-42c6-8a12-5aa098f8f015 CLINVAR:1067935 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e51e674e-701a-42cc-9294-231661fbe7ba CLINVAR:431959 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4f96642-807e-4fbf-9c0c-24a27fe6b7a2 CLINVAR:431959 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2083006a-8bd1-4fe8-b99f-361fda191997 CLINVAR:205584 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec04e24f-e279-4bbe-8b1e-3e6d3c4797a7 CLINVAR:205584 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2776659c-a9ea-4432-9075-6ca98537ac49 CLINVAR:801414 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1a9c343-06c0-43a1-9593-eb2fa3b5ff28 CLINVAR:801414 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c54bd51f-3b19-4b58-955c-99729c99df69 CLINVAR:1420866 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa4f0268-9909-49af-9359-e141bdb38a74 CLINVAR:1420866 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f31d2d35-fab4-4249-a334-b66325772e32 CLINVAR:8304 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68bd8c14-f151-4cf9-ad7c-8bf4b92df491 CLINVAR:8304 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dc6a2f54-a632-4de3-bd07-6bd82a201160 CLINVAR:818179 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8511171f-2873-45a7-9b58-46a34fde9220 CLINVAR:818179 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 301fe3e9-175c-4109-a4f9-a37fc82aee2b CLINVAR:1312506 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ca5e062-1709-4df2-afa9-93b927a6404c CLINVAR:1312506 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88b9b100-9520-4c21-bec5-9ab846bf5279 CLINVAR:495685 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ac6760f-4689-4e31-b8a1-5be6186fa76b CLINVAR:495685 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 238e9051-0955-4713-b98e-6ae26bd25722 CLINVAR:810628 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec782bf1-7c44-4ece-88c6-af3b75b5e16d CLINVAR:810628 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 34b983b2-9016-46a2-805c-323eaf001e3e CLINVAR:205581 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc58ad33-77f7-471f-a03a-490865bdcaa0 CLINVAR:205581 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5865ce65-0824-43b5-a64a-856f33dc88e9 CLINVAR:392462 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea648c25-b888-4618-adfc-f8d87f938dc0 CLINVAR:392462 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7d794341-bffa-4f70-895b-e3ed958ba658 CLINVAR:1335317 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38a856bd-a1e4-4401-bb84-a0aba559bdc3 CLINVAR:1335317 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 971390f9-939f-4c6b-8259-e1bf4360f035 CLINVAR:801415 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5ed89e1-e013-4925-9cac-bdd0d935c173 CLINVAR:801415 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fc40f1cc-e7ad-4057-92d5-b540496ecdd3 CLINVAR:2446460 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 194117e8-bb3d-4e75-8472-81d4a024b482 CLINVAR:2446460 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ecf1f369-0f59-4ef0-86fa-cfbba745e2e7 CLINVAR:1391239 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcceb684-96ed-4afb-8743-edfeaa061e3c CLINVAR:1391239 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76c5b211-158d-497d-9c0e-d4846f9de520 CLINVAR:3583501 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bd2bb9e-0047-4d36-bf86-74276514970f CLINVAR:3583501 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8d988e3-85f7-46da-ad3d-d5f5365f2b2d CLINVAR:225369 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55a858f8-d7ec-4bb6-add8-2b21dfb37ac1 CLINVAR:225369 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c339c580-91ce-4678-b30c-720ff9a404fb CLINVAR:544257 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b64e5530-31d3-4ebe-9675-6280df1b09e1 CLINVAR:544257 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c097a9d-5c2e-4237-ac39-7430d2760730 CLINVAR:2446459 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8bbf94be-7f1a-4279-93ef-d464e03e9fb3 CLINVAR:2446459 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 73ec190f-f17e-496c-9970-b72070586e3a CLINVAR:573140 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20f11416-05d3-4738-9b46-55372a47615a CLINVAR:573140 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca8e44a7-74ee-4dc8-9708-ade341b97185 CLINVAR:947458 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a33857a8-0376-44ef-97d8-41d9f37bfd45 CLINVAR:947458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel caaf78d8-4bd5-4a41-bad2-a3afe00fd93f CLINVAR:544259 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14e2b39c-9179-4226-8030-a8fc3d459768 CLINVAR:544259 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f99377ec-7721-42f6-b402-54c6dbf1fa56 CLINVAR:664123 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b8a3c7f-40ee-477c-8af6-83596721a7c8 CLINVAR:664123 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2315dd6b-17aa-43f8-9dc9-a9a63a6d1a9c CLINVAR:2446458 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f71815b-4681-40e9-aa66-e9451e27db24 CLINVAR:2446458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c13a4ffb-7f70-4c15-949c-2dfe1abf8be6 CLINVAR:4537502 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f6f2cd2-3c34-45b1-bd58-4cbbc86f6b2c CLINVAR:4537502 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 68025da2-75c5-4c5f-97f4-890fb1a78cf9 CLINVAR:4537500 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 266085c5-d2f6-4980-bd51-38a96b27e63f CLINVAR:4537500 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a326131a-1768-4fbd-a8ba-0bca11b6fcb5 CLINVAR:205580 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6ef64fc-0a27-4afb-ba9c-2f7a12371069 CLINVAR:205580 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8076510e-c42a-4de3-b39f-7bdeaf147f89 CLINVAR:844968 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27cb4067-9a15-4311-9dbf-96ad6d6a9984 CLINVAR:844968 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4f1fb208-5471-447b-b2f5-2362494c2d08 CLINVAR:854099 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f35ab30-734f-4a70-8b2e-5d3685c4f3c2 CLINVAR:854099 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a88718ab-8b2e-4f2f-923a-ff0863e621c2 CLINVAR:4537501 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7bf3d1ae-ef58-40fa-a866-8d1762832162 CLINVAR:4537501 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f3fa6ac1-fd2d-43da-9c38-3c391005928b CLINVAR:21065 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25b6224f-4447-41af-bfd2-3915b0d2c0df CLINVAR:21065 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7db4a819-1335-48be-a486-806aa85a3e76 CLINVAR:566624 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6213dea6-b2ec-48c5-9cbc-44a883932818 CLINVAR:566624 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0264471d-5f72-4e43-a0a7-4bd1d3f25ba0 CLINVAR:8302 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73baeefc-8fd6-4b75-bda7-588fe93acbc2 CLINVAR:8302 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1176478-9702-428e-9551-50b277880616 CLINVAR:2446453 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f5df0cb-eecc-43b9-acca-17ab667562fa CLINVAR:2446453 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6348a5cb-03d0-4a53-a2f3-ba405319eb1e CLINVAR:916122 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e86d2507-14c6-47e5-b8eb-24c92f750042 CLINVAR:916122 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ec6c8668-5d32-4ec0-aa81-1be5bbcadeb7 CLINVAR:849693 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f7134bf-c49c-4ed2-9681-858abd7de37d CLINVAR:849693 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9106ddbe-c935-485d-8395-ca13aa6a6a7a CLINVAR:2675837 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a940d98a-7157-4b52-9a20-66808d244a2e CLINVAR:2675837 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c6f23ea-82ff-4909-b94a-dba3c1ed0af1 CLINVAR:2683728 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e757f3c9-4b53-4bfa-a158-0a8c92267651 CLINVAR:2683728 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 13d81435-c016-40f1-9c5d-abf556fcb9f1 CLINVAR:544251 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a3c9583-2f48-4335-a23b-e01e6f790f7e CLINVAR:544251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fcbb792b-e472-441f-b84d-4c5856d143ec CLINVAR:2446457 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d413d47-1731-4b3e-a2e2-42d33aeb4e86 CLINVAR:2446457 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 14e3452b-33d6-42f0-8958-c27a5f51df27 CLINVAR:4537498 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be0ab59b-90fd-4bd4-b349-45139c0c35b1 CLINVAR:4537498 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d37d0581-0fab-4404-9e43-207e0034a16b CLINVAR:2446456 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 309036d0-6b68-437d-9d46-eaeefa1e8765 CLINVAR:2446456 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8bfc8c33-9a33-4034-a1f2-14272f223a11 CLINVAR:4537499 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c237b9ed-29fb-4eab-9730-0e21439dfeb0 CLINVAR:4537499 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8830ece-4216-437d-a897-f61f76e8771c CLINVAR:1098274 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c9eef30-9d72-4e71-af75-971114b22cfc CLINVAR:1098274 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 295808c0-2f01-49d8-add4-b6b7285ac46b CLINVAR:1098274 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9838b4e1-5cf2-46e1-8554-620a55da3ee9 CLINVAR:2446454 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72d5d813-fd66-4822-9701-b8ae1634923d CLINVAR:2446454 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abcb1b3f-1398-4693-b781-41ce720d248c CLINVAR:2446454 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c25cc2d9-ec97-450d-9cab-60cc4efbc42a CLINVAR:2138184 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d81d904-6fc1-48d4-8bb2-650c4faa4705 CLINVAR:2138184 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9abe5798-e5c0-4d5c-918b-1edabded1d7d CLINVAR:2138184 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a53c3135-d739-4039-a433-0999005930c9 CLINVAR:8305 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 785d155e-a3e4-4879-87fe-2a1d9de10722 CLINVAR:8305 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce05c609-2c4c-4aad-9dd5-d3c3599eb22f CLINVAR:8305 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7ea0e739-4971-4094-b0cc-799e37f34f75 CLINVAR:695019 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bafba4b5-4f6a-43c1-9380-445a44f3bdb8 CLINVAR:695019 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24a05b30-fec8-4403-a3b5-5b9077ec0a06 CLINVAR:695019 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d2fd50c-d861-4162-b611-ed4e5419026c CLINVAR:2419155 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c68ee1e8-8201-46cd-b110-5f2016a9025d CLINVAR:2419155 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f5eae63-10d6-4a2a-a9d4-38efddc6df66 CLINVAR:2419155 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f936aac-a497-4165-8654-ca3806a4a5b8 CLINVAR:328352 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 341b74a4-b7bf-4173-bded-5b6261d9c443 CLINVAR:328352 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5cf8669-297c-4151-ac36-5d277993b0a6 CLINVAR:328352 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f43e3d43-a5e5-4b51-b08f-1171055f6824 CLINVAR:2683727 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba61ecae-9e5e-44c1-b541-8078e9083854 CLINVAR:2683727 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf077a11-dc3c-4364-a4ad-570569cfe0fa CLINVAR:2683727 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6a6d42b2-923a-4116-b767-44eaa536be41 CLINVAR:1305363 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 448460f8-8faa-416d-8d9e-05217657566b CLINVAR:1305363 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b55cf7f-dae4-41f9-9777-7f1f1fd63e13 CLINVAR:1305363 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6cd8ede6-ad44-4d32-a01c-dd8fe1e0dd65 CLINVAR:939992 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 163445f9-c796-42fd-9023-2acb04025ec6 CLINVAR:939992 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85388ac0-b159-46b9-9191-6a8e43e6a628 CLINVAR:939992 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 44fed75e-a3fd-41da-960d-737c58e135d7 CLINVAR:1402763 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42a5726a-63b4-4785-9975-f42f7add1ccb CLINVAR:1402763 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcc540e2-2508-475d-802a-6ae1cad94743 CLINVAR:1402763 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e4fd9055-1617-466e-a6df-e563b35630a8 CLINVAR:2570637 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7db90aae-c098-43ce-94ff-0e90a152ec42 CLINVAR:2570637 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92073a4c-e86a-4ca3-a6c0-ce71589d76eb CLINVAR:2570637 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67d7516d-96a1-4413-adc1-109314eb8dd0 CLINVAR:8303 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23dd234b-088e-4c26-854a-5f0ab2cbf99d CLINVAR:8303 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef16426a-612e-453b-bb30-f15ee1d2afdd CLINVAR:8303 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa276874-6781-40ab-86c1-05420857b6db CLINVAR:2412845 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 675b8977-4dc5-4810-96dc-9e1da34a11d8 CLINVAR:2412845 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 253114b4-79de-4992-90bf-8d9df7838435 CLINVAR:2412845 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 237f062f-71e1-424f-9393-3361427d4d43 CLINVAR:858462 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f3f6531-f667-4f4f-8108-6e77dd6a8827 CLINVAR:858462 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ddcc186-8917-445e-88f9-230ff9225305 CLINVAR:858462 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2717a33d-ac35-4b17-8873-39cf9cba12ad CLINVAR:205591 biolink:is_sequence_variant_of NCBIGene:2593 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba64f32f-196f-447b-bbc2-3ce07441baea CLINVAR:205591 biolink:is_sequence_variant_of NCBIGene:130062945 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94cb7e72-fcbf-4e67-a2d3-57248e07d5a2 CLINVAR:205591 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bbba1fea-8d24-4d61-b440-d3c327f1232a CLINVAR:40813 biolink:is_sequence_variant_of NCBIGene:5605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d452759-f96e-43d5-97a9-bb130c3da292 CLINVAR:40813 biolink:associated_with_increased_likelihood_of MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5ed5fdbb-8bc3-4bfb-b537-73bbdb6f2e08 CLINVAR:177868 biolink:is_sequence_variant_of NCBIGene:5605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 402234fe-3211-4cbc-afcc-1cbccf45755c CLINVAR:177868 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c3af61cd-e31c-4c72-81cd-d96f62fff03d CLINVAR:8274 biolink:is_sequence_variant_of NCBIGene:5605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c21fdf0-5db7-4455-bfce-c65904b246a5 CLINVAR:8274 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79478021-3232-4220-b6b9-a0a8e7fd3b0a CLINVAR:8275 biolink:is_sequence_variant_of NCBIGene:5605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90d11ebe-3f29-43c4-a1de-7cedb5c2f64b CLINVAR:8275 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1733c909-ec80-4e5d-beac-692d2c5de2fa CLINVAR:8272 biolink:is_sequence_variant_of NCBIGene:5605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d9776fb-57c1-4299-9e24-ce482cbc1040 CLINVAR:8272 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0c59415-518a-44fc-8d13-392fe8ffff5c CLINVAR:8273 biolink:is_sequence_variant_of NCBIGene:5605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c382afd-5ba8-4160-ba89-50759302d0fb CLINVAR:8273 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc1b03f3-f0a6-47f5-9469-b316bc52364c CLINVAR:7282 biolink:is_sequence_variant_of NCBIGene:1785 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 17f504c2-f946-4f41-9831-19da7dc162e1 CLINVAR:7282 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 920ddeaf-5662-408c-9e66-d967b247a0ed CLINVAR:7280 biolink:is_sequence_variant_of NCBIGene:1785 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85bbec38-663c-4ac5-a4f9-983c620cffc9 CLINVAR:7280 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8647708e-3e13-4ae1-9f98-f5def253309c CLINVAR:7279 biolink:is_sequence_variant_of NCBIGene:1785 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d419e9fb-0148-488b-b308-3a39b48d1d78 CLINVAR:7279 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 516b8f8d-f2d6-476f-b6cd-7f21a45f96a4 CLINVAR:7281 biolink:is_sequence_variant_of NCBIGene:1785 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4a369b9e-5881-4b99-aa52-43e4c5e380a5 CLINVAR:7281 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c8851ef2-c143-4d73-8da7-68d9ec391931 CLINVAR:986927 biolink:is_sequence_variant_of NCBIGene:1785 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d52187e-b61b-43a6-9bbb-e3a84a8e4794 CLINVAR:986927 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7140a062-fe76-4acb-a328-3cf0b5201c8d CLINVAR:158514 biolink:is_sequence_variant_of NCBIGene:1785 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aac24f24-97d1-41ca-a7c8-64e57381b74f CLINVAR:158514 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c6cdb86-d8fc-4b91-8c7d-7e110beb0eb6 CLINVAR:158515 biolink:is_sequence_variant_of NCBIGene:1785 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bb309da8-f445-40e2-a9e1-0410f624d19d CLINVAR:158515 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bf86d44f-f9d8-4921-acc3-73c04de956f0 CLINVAR:246082 biolink:is_sequence_variant_of NCBIGene:1785 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0cb9b6dc-3d30-471d-9623-d1a85f60ebf4 CLINVAR:246082 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c8495c01-bc64-4e2e-85a6-6fac8e9981b0 CLINVAR:1705621 biolink:is_sequence_variant_of NCBIGene:1785 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64c3f084-fe9f-41da-b0ea-096aa798c637 CLINVAR:1705621 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 36dca579-4c80-45a6-b0c6-ce7604f182e3 CLINVAR:449326 biolink:is_sequence_variant_of NCBIGene:1785 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fdaacf5-94a2-469d-91f9-cae855ab8a2a CLINVAR:449326 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 15fd874d-e594-4864-8601-42da315f24aa CLINVAR:7285 biolink:is_sequence_variant_of NCBIGene:1785 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd4b0caf-a841-43a6-b4cc-37aa06f094e5 CLINVAR:7285 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b382956-07bf-4831-854b-e36e59a078d8 CLINVAR:931135 biolink:is_sequence_variant_of NCBIGene:1785 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da7414c2-af39-4faa-a8f4-73c9b01832d5 CLINVAR:931135 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4349193b-b856-435e-825c-3f5cb00f6f21 CLINVAR:250946 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 309bb57e-00e3-42b2-a435-33323b893835 CLINVAR:250946 biolink:is_sequence_variant_of NCBIGene:115271120 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71494199-e7de-45b1-b6b8-498364d56632 CLINVAR:250946 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a6931465-8e9d-4eaa-a825-299a8593fbbb CLINVAR:250966 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1032d1e5-a63e-47fa-82d0-53a287439727 CLINVAR:250966 biolink:is_sequence_variant_of NCBIGene:115271120 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c395cefc-c61e-4d60-8674-a3d3bb801b6d CLINVAR:250966 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 332e0740-2437-4af9-abe0-9829c5ad12dd CLINVAR:250967 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f4ab2e3-2e18-40ae-afbd-2bd084b35dd0 CLINVAR:250967 biolink:is_sequence_variant_of NCBIGene:115271120 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6af013d-7210-4f2c-ba4f-5378a645bde9 CLINVAR:250967 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bec15c65-89d8-4161-ace0-854c7603dfd9 CLINVAR:250968 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 983fe01b-449c-4ab9-88fb-4b92ed1353df CLINVAR:250968 biolink:is_sequence_variant_of NCBIGene:115271120 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c0652d6-f782-4bf4-8120-e0e939a3b024 CLINVAR:250968 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df9e764c-6dc0-4cfa-934b-b856af49c51f CLINVAR:441174 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d82a71f1-0c23-47c8-9c95-dfdbb2db2d58 CLINVAR:441174 biolink:is_sequence_variant_of NCBIGene:115271120 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3405129d-520c-486f-9c3b-ff72ee93ef8e CLINVAR:441174 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2cc160ab-6847-438c-8052-f195fa9e57c5 CLINVAR:440536 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ede469b5-f427-4a8c-9ba3-913921351725 CLINVAR:440536 biolink:is_sequence_variant_of NCBIGene:115271120 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc9beea2-9005-47ef-9e0f-89e564384701 CLINVAR:440536 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 32e36df8-40d0-4d86-a823-40bcee83e215 CLINVAR:250969 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b2a6af3-3a0c-4442-965d-82cf6c5eae8a CLINVAR:250969 biolink:is_sequence_variant_of NCBIGene:115271120 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f1dbd5d-c80a-41fd-8e57-9c3394db8878 CLINVAR:250969 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f0a8c426-0afa-40c6-8b36-acb44a1ae1fc CLINVAR:250981 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e3d96e0-305b-4641-8f72-dbce1331f54f CLINVAR:250981 biolink:is_sequence_variant_of NCBIGene:115271120 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de10a297-ee0b-41a4-a019-74af47a8c265 CLINVAR:250981 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 68a072d3-494b-45d1-90f7-6ba299bed26e CLINVAR:226304 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91cb7b6b-64cc-4e32-8567-1f7c259fdaca CLINVAR:226304 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5374060b-48c5-417a-a439-7e3d69f81a0e CLINVAR:3683 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82286378-7a02-4aa8-b823-dff0a0638694 CLINVAR:3683 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e93e55af-c8dc-480d-a681-e131b5343b78 CLINVAR:225097 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45179d13-8d09-45f0-a004-33e9edbb6b90 CLINVAR:225097 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 78d280e8-f8b3-45a2-9519-509efec1e5b1 CLINVAR:183083 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2cdca6aa-ef6d-4241-9195-46472231e125 CLINVAR:183083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dbe451a8-9a53-4764-8f5e-e2bdd310ada6 CLINVAR:3685 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88d16c53-8a41-48a6-958d-80b5843d4a07 CLINVAR:3685 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16bcd639-6228-4d7e-ac53-fbb5f9856a25 CLINVAR:251100 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22a6f169-0bf0-4c32-86e9-6d3f4d2f252a CLINVAR:251100 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3b22d1d-ebe3-4823-b4f9-6ce0e23c4be1 CLINVAR:251102 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c0d3a513-dec6-4f23-aae8-32c319b18caa CLINVAR:251102 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ddf2eb43-3098-479e-b555-88978f9c3b98 CLINVAR:251105 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85ba211e-1c84-44cb-acbd-78c3c5414225 CLINVAR:251105 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 455c5dfe-4f29-4bac-a226-9d4106a2786b CLINVAR:251106 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61a7b0cd-b62a-4eb9-9d32-cdedbdd3d4b9 CLINVAR:251106 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 65e98916-aad3-492e-ad77-9067d630beb0 CLINVAR:440555 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11cc3193-ba33-4234-b6ea-7894c8d47f0a CLINVAR:440555 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d26a6e2c-a1c9-4122-95cd-e12eb982a46a CLINVAR:226313 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d3b310f-bace-4850-9da7-0735b0cbdd93 CLINVAR:226313 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a133650b-680f-45a2-ae8c-d5446fa62c54 CLINVAR:251107 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7b80935-77a5-4b1a-a932-d2aa1d681392 CLINVAR:251107 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99911aa7-9481-4aad-ac95-1513ad064b3b CLINVAR:251112 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d5c067e-a4c1-4ee8-8a07-84f01f9074ae CLINVAR:251112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d1d88d20-2bc5-47ce-b836-82889f400424 CLINVAR:251113 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a9b47d3-dd84-45fe-9900-a3ac00f0d999 CLINVAR:251113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3e20624c-be34-4d12-97cd-ede21ffbcada CLINVAR:161269 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7339172-ac57-4a85-b09c-d621533229eb CLINVAR:161269 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1b932dd1-d370-4f57-8d42-e7e37fd356de CLINVAR:251121 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2ef273a-f62d-4520-bceb-6947e9e07575 CLINVAR:251121 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3e6980cd-51e3-49b5-b557-51102c9dc31e CLINVAR:251122 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2766b330-3c03-4f64-9340-b835086973a6 CLINVAR:251122 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fc6ea761-ac84-4036-899f-45682b7b44d1 CLINVAR:161266 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 054d918a-7caf-412b-bd67-6002935e0b44 CLINVAR:161266 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 730cc42c-df4f-44b2-86b1-8ad2b5eeb8b8 CLINVAR:251130 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c4a78868-d0e3-4d2d-891a-177b0ab3b214 CLINVAR:251130 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4386d123-cf87-43b8-857d-d6b6bcdf7230 CLINVAR:3736 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53608f51-ad6e-49f2-970c-11df64ce3e6c CLINVAR:3736 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 841655b7-9e5c-4f6a-b150-d7e7b89e1fa4 CLINVAR:189296 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e26d0424-558c-4544-9494-7a308d8bbea0 CLINVAR:189296 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60a6ad86-84c6-40af-9d70-958c9c5f820c CLINVAR:237872 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73d03269-65fd-4c79-ac97-73f12b8474b6 CLINVAR:237872 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa1e9a3e-7482-4a87-8a38-9098e6552b0b CLINVAR:251162 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68fe9c37-2062-4cc9-8a29-fe4163ee4059 CLINVAR:251162 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 308fffa8-88b1-4b26-bf36-be30e937c32a CLINVAR:183085 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cab7bdd4-0657-424e-b961-a7fabe7f1cb6 CLINVAR:183085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ded2de03-ba29-4308-9b05-3e1b27b9d5c4 CLINVAR:251213 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cd0ca8b-f850-402b-ac30-6377f0c11045 CLINVAR:251213 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0a649a4-31f3-4003-9069-3b6bfa9a2511 CLINVAR:251223 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ab3aef7-bc44-4da9-9ff7-81ed04e9dc77 CLINVAR:251223 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 779b0ad9-585e-4184-974e-baa789ee9c5f CLINVAR:403662 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ad33458-1c8f-437d-bf4b-73c498925194 CLINVAR:403662 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 904bae7c-fd99-4eff-a9e5-464d80cbab60 CLINVAR:3686 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d6551a8-d589-4022-9b60-c2f59f195c2e CLINVAR:3686 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01061125-9de1-4c67-8db8-708b512633c9 CLINVAR:183089 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b63a9cc2-054b-47f7-b273-d725eaceceda CLINVAR:183089 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 03179e53-3f2f-4c18-bdde-baa423f53e25 CLINVAR:3739 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21ad351a-1247-4c5d-9aae-0f519b598eff CLINVAR:3739 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c36f767b-5712-4035-b727-6001cfe2ef44 CLINVAR:430757 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 490a0fe9-a7ad-434b-b443-ca2275ec880a CLINVAR:430757 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d9e10a2c-8f70-4c71-aa81-af8003845318 CLINVAR:251309 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a90d4e5-7b7c-4fe4-a43b-9bef292f8c74 CLINVAR:251309 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7f11e7b8-d245-4dac-84e8-8e59c75b1c93 CLINVAR:251340 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c042e666-6815-4d35-be65-37d6f826a9d0 CLINVAR:251340 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb2d5889-ad67-47ae-a8b6-6a67281a4e21 CLINVAR:226329 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4c60619-0675-42ba-be88-7a4a9fa4c970 CLINVAR:226329 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e150080-8522-47dd-bb02-163447e66d55 CLINVAR:251356 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4da68492-25c8-4477-9b41-63e9f92f82f7 CLINVAR:251356 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af62d06b-cd31-4fdf-b91d-bc6593c88d6a CLINVAR:183092 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dae5602e-b34f-4237-aff8-54e8e0055bd8 CLINVAR:183092 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aae66d1a-82be-4aa2-9f31-7c4def1cef70 CLINVAR:226332 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16ba8933-a256-4b9e-aa9f-05be05cb3b47 CLINVAR:226332 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f5f296b1-e4e6-4eaa-937c-b425e49fb69f CLINVAR:251362 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee3b91f6-8a84-41dd-84ac-b3cc3fddffa8 CLINVAR:251362 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3ccfdd4f-c38b-4008-abe2-f4d9613a287d CLINVAR:3690 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 122b5b50-d126-425c-a1d7-65710b33d338 CLINVAR:3690 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bba9c312-0d50-4dee-8ce1-ab8c487a49d6 CLINVAR:3691 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d3c51a7-7654-460a-b7b6-bc44c8a3e573 CLINVAR:3691 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a434de95-b6f3-4f0c-aeaa-7d851195e29f CLINVAR:226333 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 248a8569-25bf-4197-981d-2c560a0c0ef2 CLINVAR:226333 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0ed0510-5326-4aab-876a-598b09fb18d6 CLINVAR:251400 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ef56f08-70bc-4629-9398-31ff1d309006 CLINVAR:251400 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 17a8499e-9a78-4ac5-98a6-401e7a0dd9cf CLINVAR:200920 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 465802a1-4036-467c-b6b4-806d50ac97e4 CLINVAR:200920 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0c8a3eb9-8e05-4f75-b5f2-e7b13fcd6dd7 CLINVAR:251422 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44c9775f-2ab3-4c49-8cd8-bb88e270a086 CLINVAR:251422 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 735f76c1-0bd8-4b17-b9ff-53a2b50f30d0 CLINVAR:251425 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad972380-a4d5-44bf-ae0c-7c3c6718fbe6 CLINVAR:251425 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e7882a78-8e42-4767-a766-93f3d7724052 CLINVAR:251436 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b5f3201-92a1-406f-a247-88891ffd087e CLINVAR:251436 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c23575a7-2354-4dbb-a119-47d56cb3588a CLINVAR:226334 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79c2fcd8-0c3a-4770-8365-3c7795b3052b CLINVAR:226334 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 971d4aac-b972-4fda-8e0e-31010f95b99a CLINVAR:251456 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eff2010c-18fd-4bfd-a36b-8d823e1a80e3 CLINVAR:251456 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63aa003e-0dc8-4227-b617-b1f0d5be5aa4 CLINVAR:251457 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 83a22fff-4e87-404b-9ed8-87de659a99af CLINVAR:251457 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 75014cb2-260e-48c7-82e5-b371c29b2845 CLINVAR:251458 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df23a89d-9db6-4d1b-bf9a-9fa9f1057ce0 CLINVAR:251458 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e681e152-5a26-4795-8fcf-6e462455b4c7 CLINVAR:161287 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2aeff217-9bad-42ec-aca6-0bdd086b695b CLINVAR:161287 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 19b02bfe-b925-4597-8008-a861cfa6fe9b CLINVAR:251471 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42b6545f-b48c-4bdf-9794-0cc97a470673 CLINVAR:251471 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b1b59e3-f6fa-49a1-a79f-6519a67f1db8 CLINVAR:251479 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50c8af74-ca05-40e7-9bd1-490396af7eb0 CLINVAR:251479 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 324a6f27-d00c-40cd-8550-8c1a00cc5cb0 CLINVAR:189298 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7568f2f8-8524-48ab-b2b7-e308514b3471 CLINVAR:189298 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2c33f4f-99ff-4c7c-a323-8bbb8098825c CLINVAR:183098 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae65df02-bd90-4285-9def-a0f6de62e769 CLINVAR:183098 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 79c2416d-c3ea-4945-81ce-5778b277ac0c CLINVAR:251488 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb5782fd-577b-443f-bded-9a3ec6cfce6c CLINVAR:251488 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 23eccdfc-7f9d-4c47-9bf2-18c252158fc0 CLINVAR:251489 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34e364b3-9dd4-4d98-8cf0-6adf51e35822 CLINVAR:251489 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3d69715-209c-4147-a13c-4445f0082769 CLINVAR:161268 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8559a6e2-4ed1-4495-b28c-62cecdc6a266 CLINVAR:161268 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a5d83d6-38aa-4776-916d-2e43ed562089 CLINVAR:251492 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 136c4f83-822d-4038-b610-b363c4130e5c CLINVAR:251492 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 060798d2-13a1-46c8-95ec-5aa13382c856 CLINVAR:251510 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5bd4911d-7002-4088-87ad-9b27d9dfe943 CLINVAR:251510 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 52f99e9f-f03f-4f53-9e4e-3992844d11a3 CLINVAR:251515 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ae3ef00-e0e9-4728-8a1b-bbea6823384d CLINVAR:251515 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d291c656-e125-4b77-a31d-9da48d790eed CLINVAR:3692 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 295dc639-31fb-42af-bc3e-960e76f440b8 CLINVAR:3692 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8675ae9e-68ce-47d3-96ae-dd0dcb147cd6 CLINVAR:251517 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf433c03-580e-4680-9f5e-47de980a8faf CLINVAR:251517 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f7d7a1c5-cfd3-4940-a498-5b76a68c8a4b CLINVAR:226336 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 557a149a-c910-4930-95a6-58d2c06da592 CLINVAR:226336 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c1771333-ad7f-4ef8-842d-50e7022c9352 CLINVAR:251537 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e12d5637-98a7-4d2f-9809-af1b82695ff2 CLINVAR:251537 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2ed61c70-954c-4065-9c40-e5f6e1f30c2f CLINVAR:251552 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92cda76d-c535-43ad-94d2-5d319360ef49 CLINVAR:251552 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e07ff525-76cf-4e28-b532-e4cde16333ef CLINVAR:440616 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1daab09d-ae29-48ff-b054-9e03a4f51503 CLINVAR:440616 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5a3a62e-19fd-426e-9466-9ec439a24e3c CLINVAR:375806 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed033e28-f4f5-41ed-8919-9344b52dabdb CLINVAR:375806 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 71845273-64f4-44d2-a8d3-384b2cb7013b CLINVAR:251580 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a75bc708-972c-4a9d-aed9-5ba2e44be388 CLINVAR:251580 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d00bc9d6-bfb5-4822-9f16-e33f899b4079 CLINVAR:251581 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ed9923ce-c357-4f87-89ce-f7584ce53aaa CLINVAR:251581 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3318f9d1-7911-40cb-8585-c5ee417b0aff CLINVAR:251582 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c6d7c69-055b-4953-96a6-1f45f378a75b CLINVAR:251582 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1ff06bd3-91d8-46f5-9573-2b562fdfbecd CLINVAR:183105 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32cbe9ec-9bee-4aa1-b944-4d6bb17cead2 CLINVAR:183105 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a61fe498-6839-4136-841f-b3b98a73ab1a CLINVAR:1395739 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 768f6cac-5e0c-4392-aec2-bca889bab637 CLINVAR:1395739 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b8b6762f-3ab9-449b-8230-512de2db1b61 CLINVAR:183106 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdd422b4-9cb1-4df6-8673-f55f2e932d16 CLINVAR:183106 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a79f6037-8490-444a-bc10-77030d0dce29 CLINVAR:251605 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d5a3e46-af18-41c9-a6d0-5962d9fc2eb5 CLINVAR:251605 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7110f7c8-5fca-4d20-b1fd-69a45555d8b2 CLINVAR:251606 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0eed69d4-aede-47ef-918c-705b06b39124 CLINVAR:251606 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ce1a0ead-caf0-4edf-9163-d8c3cc1051a6 CLINVAR:440618 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 137a8c0e-39e0-4b18-8033-3afe267d486b CLINVAR:440618 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2ccee8be-2353-4609-99d7-43e63a6a598f CLINVAR:251611 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c64299a5-c1d3-4695-9b70-95e16022b6ee CLINVAR:251611 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c861d061-d5be-42dd-b178-d4b81e029f0f CLINVAR:226342 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8a1c2ee-7161-421c-8ada-0778ef0df34e CLINVAR:226342 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26d7437f-e669-451a-bc6b-a3cc1df55d6e CLINVAR:226343 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dde8a588-6941-4b6a-8012-126ee3c48580 CLINVAR:226343 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ccb59bc1-e6f3-4c44-89eb-63599e91f487 CLINVAR:36450 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79159e71-b07f-4bee-99b0-e01b92baa892 CLINVAR:36450 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3352d2be-966b-4a51-b29a-368898e3d6a6 CLINVAR:251645 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 192ba4f8-2eb4-4d48-b453-5c47851fa147 CLINVAR:251645 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d415445c-2f87-4334-8e27-95ef73bc0a7b CLINVAR:440623 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0603b86-34a1-4fbc-8972-e22125f83bcf CLINVAR:440623 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e13fd392-9711-4f26-a41d-cd5707c96bc6 CLINVAR:251649 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d74201fc-1e24-4846-b38f-4e96c8da03c8 CLINVAR:251649 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2226a93e-a7e4-4f4b-9df2-c4d56ca50c00 CLINVAR:251657 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5c556b7-9265-4e78-a512-0cebd8a253a6 CLINVAR:251657 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d4b3560d-3585-4a41-bfe2-79678e85048b CLINVAR:183108 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8386fa3c-dbbb-4c63-b6a8-761bc45aaa2d CLINVAR:183108 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0119354c-c86f-42bd-adea-ffe400f3618c CLINVAR:406166 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2e0d6ac-cf5e-44ec-9036-efe347c458a7 CLINVAR:406166 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 58d95bc9-c0c3-4b40-b681-53a9acd7f892 CLINVAR:251699 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a0b9cd7-b0b0-4905-b4d9-ab7bd984d9ab CLINVAR:251699 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 038b12ce-d4c0-4ee7-9cf7-4ef537c35254 CLINVAR:251704 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93705058-bbf4-42fd-8804-90c9a706d746 CLINVAR:251704 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d7daa1ed-0578-4440-81cd-a4d476a460d4 CLINVAR:251706 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16ea873d-a252-4c79-98ff-3fee04523272 CLINVAR:251706 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 003e9bb1-7e37-4899-870d-aa67cb92327e CLINVAR:183109 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c705901e-ed65-4b5f-bf4f-2982461dde32 CLINVAR:183109 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e458f987-0c09-4594-8f57-e5a801523c55 CLINVAR:226350 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93f5e745-4e0d-40a4-8c19-c0cb9a9e438a CLINVAR:226350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a575e1d6-1cc2-4633-829d-bffcd1e1dbd1 CLINVAR:251727 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar def93646-f498-41b4-b615-fa733fb15428 CLINVAR:251727 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fe952391-c295-4a5a-9eed-5583eeff8f9e CLINVAR:251731 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7bfd0fa-6ec8-449d-8986-cc22dc2b0945 CLINVAR:251731 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d822da80-f95a-49e9-81de-4fc1a9cacfb3 CLINVAR:251736 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15e31ae4-7588-430e-8c60-cbfaf4879186 CLINVAR:251736 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ff7f65fa-2b5a-43fc-8116-32f3fadf75f2 CLINVAR:3746 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edb83582-4298-4c67-b3bb-ab72d3bf2a1f CLINVAR:3746 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b3ea2809-8d55-4a36-ac19-93621810c14a CLINVAR:226351 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cbdd2429-3350-4615-858d-5fae53b466ae CLINVAR:226351 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 292af706-5edf-40c9-a35b-0b9728373a4e CLINVAR:228798 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 650afbb6-483d-4403-9928-d79dad6aa137 CLINVAR:228798 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f568e800-32c0-498e-afcc-a57c9e34e254 CLINVAR:226352 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1be3f5d-a4bf-4838-9cec-2fe2466db856 CLINVAR:226352 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c5fc71fa-ac54-4956-ac61-38f3dd595ac2 CLINVAR:36453 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68968cbe-9751-4cc4-8e75-58646becedfd CLINVAR:36453 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c98fee79-4251-4c46-afc8-dbc818d3b5ee CLINVAR:251740 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e56f7be-9720-43b4-b82f-eb0a3cb96c40 CLINVAR:251740 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 867a6360-d88d-4aa9-9ac3-6abe69d9ee14 CLINVAR:161276 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d10d59d-3793-4d47-b0df-6b50cd716c07 CLINVAR:161276 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ea95fe4f-4084-4beb-95e1-0d78c290f870 CLINVAR:251748 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa1a22cd-3091-401a-90e6-eceb2f488dae CLINVAR:251748 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d81fca33-cdea-4614-a0fa-062b124deb1f CLINVAR:251749 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a11f9f9-5685-47a0-8d48-a36561607fd1 CLINVAR:251749 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 28f2839d-9f10-4281-8605-a6535082eb7e CLINVAR:251763 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df9d7b84-d866-4091-b48a-7258ae3e5d49 CLINVAR:251763 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8f89673b-ac89-4bc1-870a-3ab461e0fa47 CLINVAR:1120245 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce26703e-7c9c-4cb5-b755-57115e36f19d CLINVAR:1120245 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b08811a9-d757-4c90-8220-78f9eca78a4d CLINVAR:3694 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d60a172-bc10-4f88-bd16-a27857f01708 CLINVAR:3694 biolink:is_sequence_variant_of NCBIGene:102465534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab333e41-d1c5-4ef9-8657-79efd6b2a12b CLINVAR:3694 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9ffe285-aec4-493e-acca-b703cfe2314c CLINVAR:226353 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5cb12b32-0a20-4afc-9dab-f089cf45b0a7 CLINVAR:226353 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7fe38d4-1703-4e06-ac4b-a01d06e93318 CLINVAR:251767 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d06c51a6-3263-4363-a132-c766a81860c7 CLINVAR:251767 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5150a36-954b-4d54-981b-bc765217493c CLINVAR:3695 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88746b75-d124-4c8d-a552-1ae9df024f5c CLINVAR:3695 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99f506d8-a813-4d01-947d-7d43856e30ac CLINVAR:36454 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3153d6d-4192-4687-84a3-281bf24beb92 CLINVAR:36454 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c5f7f55d-ae53-4bdf-88a6-4ae734563dee CLINVAR:251773 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 526dcf64-aac9-4fb3-a68e-636fa00aa814 CLINVAR:251773 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0a4ceb71-7600-4de3-aa9d-81a4ec1f90ac CLINVAR:251774 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9624db5-2d94-40bd-b7f1-5a2afcb8897f CLINVAR:251774 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 638e22cc-b917-4878-8fad-1e36231bbdbf CLINVAR:251783 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66f37244-100b-4f23-9154-1073d061afbc CLINVAR:251783 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82f9c637-55e0-417d-9fd7-1e21c68bcb74 CLINVAR:998052 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e11fab9-47d8-47f1-a4a5-972298627b1f CLINVAR:998052 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6f832932-9482-4531-8f60-5c8a288f5469 CLINVAR:251790 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a02fb7b5-c7e7-4124-a12f-7eda2054511a CLINVAR:251790 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 39b1c308-add4-4ddd-856a-6c6292631a50 CLINVAR:251792 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8478b786-10f0-4ee0-b71d-9124a168a1d5 CLINVAR:251792 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d3301f4-dda4-4f80-bc6f-f060ef4bef90 CLINVAR:251793 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21f99a3a-8c3c-4bb5-9bc7-61e0fcd2405a CLINVAR:251793 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5cd910b2-f50f-4d29-8866-f1e2a4fa592c CLINVAR:251808 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 757ce605-f21a-4af7-be96-ad66b2717090 CLINVAR:251808 biolink:is_sequence_variant_of NCBIGene:102465534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f873251e-650e-4b14-b2ae-7265fd33acd4 CLINVAR:251808 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3799802f-7c4f-4882-87a2-ea136a4ccdc7 CLINVAR:162499 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa624926-52ab-4677-be03-ca8a86bbd110 CLINVAR:162499 biolink:is_sequence_variant_of NCBIGene:102465534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 498f6fc7-27ed-4416-bace-c31eef8ff381 CLINVAR:162499 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0d84142-b416-475a-b28d-b9ff0f1639d7 CLINVAR:251812 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01955aa0-8aad-4ae7-b33a-20b841cd960f CLINVAR:251812 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f51097cf-b432-46c5-8f23-30beb3688274 CLINVAR:183113 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4954c86-c408-41ef-943d-6c3bdcf05080 CLINVAR:183113 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 555ba1a9-c89f-4345-8276-694771dcfc37 CLINVAR:183116 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd463d3c-a190-4b1c-8b03-7d35e9db2939 CLINVAR:183116 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 564fd8c6-aefc-4ea3-9f47-5681ba0c1adf CLINVAR:161277 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e08c93d4-49d9-40ff-a6c8-0f19af335c9a CLINVAR:161277 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74258ec8-5609-489f-a5b5-24a65f4b4468 CLINVAR:440642 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a98aba3-4163-4c71-b18f-bada401dd8a0 CLINVAR:440642 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c66d8cc3-6fa8-4de0-9fb3-11e214ef63a8 CLINVAR:992900 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2427620-fc02-4bd8-b2f2-de0cef41720d CLINVAR:992900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e01a3349-3627-4a4e-92cf-1cdffb4f930e CLINVAR:161284 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96231d15-0649-45f0-830c-163e15ac25d9 CLINVAR:161284 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 139bf369-c6a9-49e1-8954-d68a4ddb10a0 CLINVAR:251844 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8439804f-edfb-4f2d-9f04-e604164916f1 CLINVAR:251844 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fb4e864b-5ae8-4b9a-a3bc-c290720139af CLINVAR:251846 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe097ec5-a5e5-4ba5-b550-e87b70560ac5 CLINVAR:251846 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c1e2a0bc-1d4c-43b8-9ac5-d35e19fe947a CLINVAR:251856 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58493e48-bd80-456d-9657-88e9fcf994b9 CLINVAR:251856 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 666f2169-d288-45f3-a5f5-0e1a322f3e0f CLINVAR:161285 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55133557-d532-4d9a-85c7-811941ead267 CLINVAR:161285 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ad7a202-4766-4d09-84bb-f361bf221573 CLINVAR:251864 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a17e7ee3-cf94-4803-a04f-f7c4f872a8c0 CLINVAR:251864 biolink:is_sequence_variant_of NCBIGene:102465534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d193fddb-e889-4da3-b18e-63e51a9d09d9 CLINVAR:251864 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 26baf356-faa9-45b4-8d56-a6c406df7ab5 CLINVAR:251865 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ced283f9-0833-41c0-956e-0bea19e233ca CLINVAR:251865 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 88f386da-43ab-4d1d-897b-377b41a84456 CLINVAR:251870 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b70cae2-1d4e-473d-89a7-4b9962ad8a53 CLINVAR:251870 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 573e7081-d6c1-48e5-8330-a91afbeeb6ac CLINVAR:3696 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1fdda6be-8056-4eae-a207-a8b281b71558 CLINVAR:3696 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2edc0861-20b9-45a0-8182-bac0bfa3310b CLINVAR:993226 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5b8bbfe-25e1-4bb6-bc26-d6c36b795606 CLINVAR:993226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ee35740b-1383-484b-b9e3-b45fd0950d66 CLINVAR:251900 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14d97745-1325-41bf-9a82-9830beba52b3 CLINVAR:251900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1d25e3de-9579-487a-be14-587c2720ccdf CLINVAR:251926 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d8fa89c-e6de-4d45-ae86-c2612bdf9c47 CLINVAR:251926 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e2201a5-38d0-47db-bf9b-499f67ba7a72 CLINVAR:226363 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1e9b83f-fbea-47aa-9409-bd3f89a9d92b CLINVAR:226363 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5acacdfa-ac40-48cb-a5c5-ebc6e31c5ed1 CLINVAR:251938 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70867c16-1026-4bb1-b679-cd09ffe82b04 CLINVAR:251938 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 323c0f67-3919-4f90-8bfd-bfa9fcd4f73d CLINVAR:440656 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74f8eb61-7458-4b00-a113-05f7cd0275bc CLINVAR:440656 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0b88d235-8470-4408-bba4-2abdc9a39edd CLINVAR:251996 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b71df217-6010-427d-8bc2-2752dbfb00f3 CLINVAR:251996 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0e4ab9a6-e1b8-4584-a89e-86489560dc00 CLINVAR:252000 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24608631-4139-47d6-8dcd-0d3884d39ca1 CLINVAR:252000 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel debfda1b-af53-4506-b048-def079717f2c CLINVAR:438325 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ad35d5f-d823-4fcf-9d86-816275f40c8d CLINVAR:438325 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 79369114-1d06-4087-8aed-6964aa3d7bc6 CLINVAR:183124 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1bc87260-5bc1-4d95-9e10-f1ddf4184a6d CLINVAR:183124 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 88cbf562-28ec-4ad2-9b16-647938b45862 CLINVAR:200921 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9166d144-e4f6-46ba-8d9a-e53f45435138 CLINVAR:200921 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 440d0b86-f534-40dd-9cf2-c5b93c6f1771 CLINVAR:252012 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79e1460d-a570-448c-858b-a1bad005fec8 CLINVAR:252012 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 15766ba6-bb51-4bd7-8d4f-6666b5cce75a CLINVAR:252014 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b04e43a-4737-4c03-b55c-e20a0c52a72c CLINVAR:252014 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f36aaf2b-063e-4e71-a891-72bd9239bc91 CLINVAR:252015 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eeb1f016-3bcb-4ebb-a613-6aa999e91bcc CLINVAR:252015 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aba160b2-00d8-4466-a91d-b4bb8e412ce8 CLINVAR:373769 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40845bcd-f1d2-45ac-a913-2f0e48f68a00 CLINVAR:373769 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b1ade136-4104-48ee-bd98-3659b9ad0e02 CLINVAR:161271 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b83b4c06-ab19-4bab-bbc3-5898fe8148d8 CLINVAR:161271 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb3bd6d3-5c8a-41c6-8dae-36b27986ec3d CLINVAR:161290 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11da3328-7996-418a-88d0-904a8c7c9680 CLINVAR:161290 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74f2bb27-ca01-4b25-8e0f-556dfcdf41cb CLINVAR:183126 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48320521-c385-4d3a-903f-640b9c95eceb CLINVAR:183126 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d7bd765e-5671-4e34-9da7-7cc716ea2530 CLINVAR:252029 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ecf79fbe-26cc-4eee-9c59-b6aeafa875d5 CLINVAR:252029 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1cbe12d9-3c11-4a45-84a3-fcd7afdd7135 CLINVAR:252035 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98510e2f-242f-4f1a-bfe0-a7c5b31ffb6c CLINVAR:252035 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 53705584-81e7-43f4-8c47-7c56f25ad15a CLINVAR:265904 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a39220ab-e6fa-44fb-992b-8588ea62cf7e CLINVAR:265904 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel baf50c53-1d19-4c6c-b3ec-39db30548c9b CLINVAR:252061 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97255403-7070-4042-bd55-0f4a8038180c CLINVAR:252061 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c76485da-802c-4a9e-8854-c0770d4f978d CLINVAR:252083 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a30ef84-00ff-40cc-a5bf-06c753808122 CLINVAR:252083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 03d3847b-c73d-441f-b68a-3a53191eb80e CLINVAR:252084 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7cbf3de-5d8c-4675-8a80-99ec8db349fa CLINVAR:252084 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f882aac1-f092-43e6-a6ba-b793d61778ba CLINVAR:252085 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 885ce4a6-215c-405e-b770-685f2fec568c CLINVAR:252085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6a8ff4c2-40eb-435b-b402-1149b83a1aab CLINVAR:226379 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1de9a234-57de-4379-baa0-5d14a82a0b03 CLINVAR:226379 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f3c502fb-f295-457a-8cf7-02a4c2a0d01f CLINVAR:226380 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a062b8a9-6fff-498e-ae18-6e6567ce8ed2 CLINVAR:226380 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c502b3e-a119-457d-a078-0d92c095fd47 CLINVAR:252107 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3b72ae5-9fbc-48c8-82a3-fb0778a4696a CLINVAR:252107 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 58b9f1c8-0935-4aaf-a755-9fc11bf9bc81 CLINVAR:200922 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c5bcdac-ccc4-4a39-b9c3-a376ec7c5a7c CLINVAR:200922 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc4090ec-1482-479a-a206-4ce7baf746bf CLINVAR:252112 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 133f79cc-13f4-4be2-8c9f-40e0bfabc27a CLINVAR:252112 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8fa955fd-7a11-402c-ac74-39bdf9cb9915 CLINVAR:252120 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a18773ff-4a8f-46d2-aad4-7762834ab3e7 CLINVAR:252120 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a4c13871-b523-48ab-b4d6-fb0ba464480c CLINVAR:183128 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4307d5c-4f2e-49bc-98d2-a5a2913709fd CLINVAR:183128 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a14a492d-0160-4938-97c0-ec846d65c613 CLINVAR:252127 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0d9aea1-a22d-4d26-9b01-70b654b175b4 CLINVAR:252127 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c2767682-bc6d-428f-9c97-2070475461eb CLINVAR:226382 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db92394a-c607-4132-836f-d53449a98664 CLINVAR:226382 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e24bf875-1bdf-421e-8cec-85179ea2552a CLINVAR:252135 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d65672de-5bf1-4d74-9533-3b4b53bbc16a CLINVAR:252135 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 81a79895-48e7-4958-834a-b750ea6b4902 CLINVAR:252140 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b71a0c9d-9fb4-4150-8842-77f973ed07c1 CLINVAR:252140 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d292f46b-628b-4441-a5d1-74e54be44e78 CLINVAR:810849 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e63e1890-15fe-4797-9c19-cc370373f0c3 CLINVAR:810849 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 212b8d24-3c04-4769-803d-1f0d220c2bff CLINVAR:3689 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 148eaa2a-8700-451b-aafb-92d6fc6935ca CLINVAR:3689 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3705c044-de3a-4078-aa9c-302a6260ce32 CLINVAR:252173 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34ef35a9-458c-4e9e-aa6c-a571e51b2f17 CLINVAR:252173 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e5a0e2fc-9704-4064-96fa-817467b3f695 CLINVAR:252185 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e16cac6-24e3-41ef-a079-97c30b30a841 CLINVAR:252185 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 82efcc61-29ce-4ca8-97a1-c0d635da37e0 CLINVAR:252188 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abf69c9b-f724-4ee8-a8b1-b443f4671606 CLINVAR:252188 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0c7cb0e-ffa6-4e3e-afe0-99a6772b26ca CLINVAR:252213 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 963464c7-e37c-4b81-9201-3191e6b31245 CLINVAR:252213 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e521461c-ee2d-446f-a191-4489a13239c2 CLINVAR:200923 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db36995a-944a-4519-80d3-eeae641a3af3 CLINVAR:200923 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 71b8d8f0-df7e-4087-8d13-68eb0c7d0b0a CLINVAR:252220 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4d1db64-a770-40d8-94da-2321b55a4df0 CLINVAR:252220 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5446e509-b08e-4ff7-be6c-93faed8f8f57 CLINVAR:252226 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a425f9f-e1fa-45d0-9960-5ad3403195f0 CLINVAR:252226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8e6f511d-ce7e-453f-8d85-d808cf137326 CLINVAR:3744 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 351fcd90-7a40-4a79-bdb6-18e13e024214 CLINVAR:3744 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37d60762-ebaf-4df1-adb1-e3a1efd09249 CLINVAR:252258 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 096cfc9a-3330-444b-9567-1e3e307833a2 CLINVAR:252258 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13b52c17-91f7-4fc0-8d24-08d8f436d8c5 CLINVAR:375836 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb47035a-bf06-4550-916e-f19e143a3e9f CLINVAR:375836 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8124da6b-5623-4cca-97e8-66269b7a859a CLINVAR:252302 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3261dba-9b40-40e4-8314-b3fdf86486b4 CLINVAR:252302 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c4aba98-4dcc-4035-91ac-e66ffd0b87c3 CLINVAR:252321 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46c68353-4e49-46b4-ab95-6dce10daf876 CLINVAR:252321 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cff6db6a-f231-49bf-ab2d-c1522bc5c22c CLINVAR:252330 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 315348fd-ba12-45c1-a406-b0b89122e53a CLINVAR:252330 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9f5fba7-d7e0-4043-8f7b-f1b2aa1e0765 CLINVAR:1171040 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 585d2cee-7c11-4ded-92b8-d2539051dd1c CLINVAR:1171040 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a9cd416a-4566-475b-852e-00ecae9b4bf5 CLINVAR:252340 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c603993a-cd0c-4e67-abc1-89247fe0d975 CLINVAR:252340 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5c30f52e-d918-47b3-889f-e495da98ab66 CLINVAR:252341 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95bcafae-3dc3-4c3e-9881-75b525aa1f1c CLINVAR:252341 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eba24ffa-979a-476f-9b17-72b25374b7a4 CLINVAR:161265 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 703d0fd7-f558-475a-b19c-e309903a2e14 CLINVAR:161265 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d0f67df0-d555-4a1e-99e0-ade88af0b859 CLINVAR:3734 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e078fd27-411a-4074-985d-345c670686ab CLINVAR:3734 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5b32bc22-8680-43d4-8b5e-4543a102ee44 CLINVAR:252350 biolink:is_sequence_variant_of NCBIGene:3949 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2501e820-cce9-4d7c-8511-13d1530b36a7 CLINVAR:252350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3235aa0a-074e-43ba-9f01-5470f863f20f CLINVAR:2054022 biolink:is_sequence_variant_of NCBIGene:3718 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81ff8dc9-f1cb-471d-9c22-e44b068437e5 CLINVAR:2054022 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f79c1a97-bd7a-4514-852d-4edc10502c25 CLINVAR:1459771 biolink:is_sequence_variant_of NCBIGene:3718 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 438e06b6-b1d9-4ff1-b24e-3926d5fd72f0 CLINVAR:1459771 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e740a4de-d8d8-4d9e-aaa7-8ac006834bd4 CLINVAR:644288 biolink:is_sequence_variant_of NCBIGene:3718 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74b381a5-b81e-4f82-90c4-16d6496b5db2 CLINVAR:644288 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 499dbc9f-8e1d-4f63-942f-15c9154f68f0 CLINVAR:36415 biolink:is_sequence_variant_of NCBIGene:3718 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6f67892-5ce2-4610-ad45-645d746f7ffd CLINVAR:36415 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a0e3b03c-e09e-419a-afaf-09cbe71b9df5 CLINVAR:9363 biolink:is_sequence_variant_of NCBIGene:3718 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b601c375-a23f-46ec-abe1-fb1a92d3fb66 CLINVAR:9363 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00819710-11a0-4dc8-b1c3-07ab7dad2afb CLINVAR:81020 biolink:is_sequence_variant_of NCBIGene:3718 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42446b36-78c7-4571-9885-e8330b62e3e6 CLINVAR:81020 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47bd4b62-a26e-4d33-bda0-e4fb858000e0 CLINVAR:9364 biolink:is_sequence_variant_of NCBIGene:3718 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 121da8e9-4767-417b-ac89-4c260264e4a7 CLINVAR:9364 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 22be7a3d-4aae-4f6e-a4e3-b019ca5a463d CLINVAR:36423 biolink:is_sequence_variant_of NCBIGene:3718 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 630b2fb3-90c5-4d4c-be46-0cde8e81685e CLINVAR:36423 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 338ee623-f24d-444b-960d-290f0b2c7e41 CLINVAR:1070168 biolink:is_sequence_variant_of NCBIGene:3718 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d51b3fa1-f6fa-4235-90a8-c08cef545db1 CLINVAR:1070168 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9dc30c87-4552-4e2e-bc56-013ede3bb2b3 CLINVAR:1999662 biolink:is_sequence_variant_of NCBIGene:3718 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d8aa3a8-ae55-4736-91f1-7eee6761c83a CLINVAR:1999662 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3fb43f7a-941c-4c0b-ae16-4d55b1344426 CLINVAR:39808 biolink:is_sequence_variant_of NCBIGene:5296 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62c086f2-ab40-419b-875b-c86e04f9732c CLINVAR:39808 biolink:causes MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b550e04-f7c1-4cae-b6a1-936524cc4a30 CLINVAR:694617 biolink:is_sequence_variant_of NCBIGene:6324 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af370889-738c-4613-b9d1-2e5227453d64 CLINVAR:694617 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0c3927f-3485-45f8-9208-9f876338166d CLINVAR:133129 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66bdf568-0836-4b69-8ab3-d0f13e2b975b CLINVAR:133129 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6d04e3a2-6a3f-4db6-b6c6-fa838c5513eb CLINVAR:55831 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7279d33f-dad2-4e3c-a8f0-fd97ceb60579 CLINVAR:55831 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 28437cfb-3f40-411f-8cd2-f02201900af4 CLINVAR:132995 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 303b6b24-ac83-4ef2-a98a-2f2a96dd521d CLINVAR:132995 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f1c8129d-ab5e-46fd-9d4c-75e8cd622895 CLINVAR:133045 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f84aaef-311e-4898-8e4f-a5faca5dbdd7 CLINVAR:133045 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5393b30d-873f-4162-892a-24c1fff8d1a7 CLINVAR:133132 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a5885e8-cbc8-4abf-86eb-aea1b6ef6feb CLINVAR:133132 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0141d313-29cb-42e3-ad87-792b4b7c1c5d CLINVAR:12967 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 997d947d-c454-4e24-b87e-44283e504e34 CLINVAR:12967 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9594600f-b18c-424d-8657-6dc16a232b19 CLINVAR:133137 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c177b253-4f30-4319-8092-a6d461ef1ed2 CLINVAR:133137 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2cb504f-b35a-4d27-929d-698972bf95dc CLINVAR:133147 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d38dc0b5-032e-4ad9-842e-0b0bd3d4707d CLINVAR:133147 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e1db8b0-327d-40bf-a840-3cddb7e5ad68 CLINVAR:1330371 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 474081f0-4e7a-42c0-aa1b-5505df09ab2d CLINVAR:1330371 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 809ab297-302a-4f2c-95b8-a6fde09d80c7 CLINVAR:1330371 biolink:contributes_to HP:0034733 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 013a2118-7961-4d3f-95f8-77895d011fce CLINVAR:12965 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3e9fd16-39aa-4960-972e-d2cffbcf6e7e CLINVAR:12965 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f4025086-ab41-4e59-85d1-8838c5aa8ea6 CLINVAR:133203 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5410fce1-7acb-4814-86bf-a701ecfe68fc CLINVAR:133203 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 330f17bc-ba79-481b-8db4-17ba324b299f CLINVAR:420138 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffabb1c0-fc60-4379-8201-8b825b1902a6 CLINVAR:420138 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 12001382-b586-4183-9113-71e8986f3a04 CLINVAR:133245 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4904ec8-cedd-435b-bc46-5df5f0fcba8d CLINVAR:133245 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 48718fe2-0292-418a-beeb-11fa38e4d8ca CLINVAR:12969 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a00adf2a-7fee-469a-8c87-93a024b672b1 CLINVAR:12969 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c946d725-b073-421c-ab46-048c44f193af CLINVAR:132992 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f20141ce-f4e7-4625-84f4-e63dad60b1bc CLINVAR:132992 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 37a34331-b20f-4421-a984-6656daf8495c CLINVAR:1214000 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6a1121a-7675-4534-b595-98c251b01fc4 CLINVAR:1214000 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 801c41da-e463-4737-b35e-897850a7f4e2 CLINVAR:133029 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc19f88d-dd60-435b-8d68-c929c77c368f CLINVAR:133029 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4a7f3d1c-bbbd-4025-b0b4-07d75ecf3cef CLINVAR:133030 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e069e3b-9d3d-4bd5-851a-7292fb528a2e CLINVAR:133030 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47817ea9-f3a5-4099-9ec2-e84c0bd74dbf CLINVAR:983140 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bee3118c-c1a3-4305-960f-4bb140dff62d CLINVAR:983140 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel abb46ae4-6773-4f7a-91e4-6d60a27a7ebc CLINVAR:4820220 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20678195-5309-423b-b56e-8cf4f820e6fd CLINVAR:4820220 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c4c0f097-f483-40e7-89c9-2534e29afcf1 CLINVAR:12993 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4104f7f-ac8e-4907-bf31-a5b1b628744d CLINVAR:12993 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd1e025f-4834-42f2-8081-75fc44d1e8b8 CLINVAR:133100 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8865e764-40ba-48a4-80f9-3364ba2033c4 CLINVAR:133100 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b21944ef-857c-4e0b-987a-e23c0ef3ba0e CLINVAR:133101 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01697f3e-c298-47b8-a7e5-1785ed8edbb3 CLINVAR:133101 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0b2a2a82-16b1-4774-94a1-2501380aba23 CLINVAR:133102 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0888bbf-fb25-4c40-b752-751f62d33522 CLINVAR:133102 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36a8f187-0f80-4888-aa3e-bd20ec5690c0 CLINVAR:133104 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cb3ae61-1b83-4357-9b5f-e7d6ae69a6c8 CLINVAR:133104 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8432b4ef-dcc5-471a-8b21-a6ebe1300501 CLINVAR:1210317 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar eab4e3b1-3e4a-486c-9c98-3d37db321bae CLINVAR:1210317 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 97c3e7ff-a354-4584-bd21-8974246b0dfb CLINVAR:1210317 biolink:contributes_to HP:0034733 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 71431896-600a-4b81-a56e-0d98202c5656 CLINVAR:1210298 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b463f97-da6e-4aca-b93e-a96be431f1d6 CLINVAR:1210298 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 704ce22b-35bf-4a92-985c-6cc2f6560696 CLINVAR:133106 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cf74af3-4b54-4179-9645-a36bce224b4d CLINVAR:133106 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f5a2895d-f48b-4289-9267-77d1633d1306 CLINVAR:12964 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be2f9b88-e670-463a-bc18-e14a997bc0f5 CLINVAR:12964 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d56c866-660b-4d22-b7c0-c04221b85194 CLINVAR:133108 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b22c1c5c-65c2-4a11-b4bc-406d75be05b7 CLINVAR:133108 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c55cd44-0c7a-4ee1-b63f-f572d0043c79 CLINVAR:982438 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cbe2d913-9f7e-4b46-836e-84bc95c5f638 CLINVAR:982438 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel df7d4680-8131-47a7-a8ce-3df1bd4559d2 CLINVAR:1210300 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44b505e4-7081-421c-9de9-a335f4b75e50 CLINVAR:1210300 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2d00b6ec-ac76-4e92-9c91-9c907981ae61 CLINVAR:1210300 biolink:contributes_to HP:0034733 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar bd2520dd-401d-4288-88c2-2b6390906f46 CLINVAR:133144 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46346b92-67b3-49bb-b6f7-b2aab6c55495 CLINVAR:133144 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b635e6c0-a0c9-4381-ac17-8c095b2b5bcd CLINVAR:133156 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42b67164-3641-4180-be09-f964511d6bc3 CLINVAR:133156 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 17e6db25-eb8c-4109-a48a-e0205524cea9 CLINVAR:133157 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd9869d3-8896-42a9-b550-731c2e12458f CLINVAR:133157 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 346b8b1d-a1ae-44b9-a2f6-764a948b1bb9 CLINVAR:12973 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56ba2323-11fe-4c19-9b36-caa48ccac951 CLINVAR:12973 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b190ba4f-8716-4927-b0bf-07cbd3c03bf0 CLINVAR:12974 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ef5797c-8e49-4777-845e-fa11d3870ee4 CLINVAR:12974 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b864a04c-1fd5-43e0-a5f5-3284fee67fe3 CLINVAR:133159 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 637bf290-225e-409b-8b35-ae5f3a2cf7c9 CLINVAR:133159 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 599b5b10-2868-4d0c-bc89-a6f2a77b73de CLINVAR:590571 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d751ae7a-e2dd-40c7-88d3-2503221c7c0f CLINVAR:590571 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4eb68cae-16a7-45e8-b6aa-80f35701678a CLINVAR:12976 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4ed4cea-b2e2-4493-9dd9-1f54b4823430 CLINVAR:12976 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0874bcf-2448-4ad0-8e7e-5a3ec31c6e85 CLINVAR:133162 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bcaa846-99c9-4155-8727-ed906342ecde CLINVAR:133162 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5ea7f7af-f7bd-4ad1-8953-4fe24ea1b149 CLINVAR:12977 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2732ed3a-a23a-4c5f-8980-4d7035f04ab0 CLINVAR:12977 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06055a78-c15f-4389-88ac-9694a0092dad CLINVAR:133165 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 878aaeec-578a-4af0-a087-9d30cbe816de CLINVAR:133165 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7915e8d0-2fc5-4c7c-a6a4-1c14332220e2 CLINVAR:590575 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71978ebe-fb41-4cbb-b922-bfed8ce17bd1 CLINVAR:590575 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0a69a6d0-17be-49d8-b217-a6982cfb0e87 CLINVAR:133172 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4202c66b-96df-46d0-841b-81630445c913 CLINVAR:133172 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 47821818-83b4-4745-a290-7ba49122b5bf CLINVAR:133174 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5b33681-07fb-48bc-b890-80663c339354 CLINVAR:133174 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a40abc8-5e84-4a21-9d0d-3b4393dcd09a CLINVAR:1210320 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3acdec36-88fc-4b0d-8a2b-543a3a35cfdb CLINVAR:1210320 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aafe47fc-5992-4b39-abc1-d64e7f69e082 CLINVAR:133180 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8af4e3d6-2dd5-48c0-9bd5-c73e923f32e5 CLINVAR:133180 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f1b3aac3-ba02-48dd-80bd-8bfa8662a72c CLINVAR:133181 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0fc3fa8-f310-4bde-91c0-ed5fdb24dda1 CLINVAR:133181 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel df568924-b233-45b4-acad-590548c5784f CLINVAR:133182 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92ee8f25-f5f5-4c53-a2db-383e3e50f7ef CLINVAR:133182 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6c514a88-6699-4fa6-92a9-1af2c7fab66e CLINVAR:590580 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49630183-6249-44fd-958f-7fda3c7fcd9b CLINVAR:590580 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 007328cd-3c40-43b0-9d13-b900ebaeec0e CLINVAR:133183 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0f225f38-2b23-4c81-baf5-26264ddbf948 CLINVAR:133183 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6bc7e009-857a-4681-ba95-e87ff9ac7a7a CLINVAR:573252 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0e12486-2985-4f55-a2f8-73b5440cc1e3 CLINVAR:573252 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 31d52744-1faf-4267-be5b-fcb7486f463c CLINVAR:1214002 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f5200b0-a9a7-4dd9-9645-06818a3cf703 CLINVAR:1214002 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d298ec80-4795-49ce-8813-5036645c7ff2 CLINVAR:133185 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fd256df-e11a-459b-b36d-9c399bdc8e23 CLINVAR:133185 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3fd81668-39f7-4731-991a-13e562f2e3b9 CLINVAR:590582 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3bde1558-489b-4056-9d0d-728837319342 CLINVAR:590582 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e45017de-7bac-45c6-ae77-b5752dbbcb0d CLINVAR:133189 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39402aee-f7fe-47c4-8598-19b9cfd60523 CLINVAR:133189 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c4198d08-e968-4884-a887-0b02a2b49345 CLINVAR:133193 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6f0f8ba8-c1e4-472e-b6ec-288284fb428f CLINVAR:133193 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ff20ecdb-5482-4ac6-9714-dcaf6c1f01f6 CLINVAR:133194 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 347c12ee-8e7a-4645-9af8-f32856833300 CLINVAR:133194 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 46500f63-9acd-4603-987e-29fe22849d81 CLINVAR:133195 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 711f4db4-5872-4035-a4dc-f9e5308ae416 CLINVAR:133195 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eb051e6a-7c1c-45c8-b808-82b3f5b64f43 CLINVAR:1210302 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2219a11-b14d-41d9-907f-a77a5ee044ec CLINVAR:1210302 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 938419f5-b64a-4263-87f9-6d8706489954 CLINVAR:12970 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7788f5e4-2777-4c95-ba03-79347daeaf14 CLINVAR:12970 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b016685f-ca1d-455d-adba-26de98477075 CLINVAR:12966 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd25eefb-6263-41ae-999b-93cca15f54d1 CLINVAR:12966 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd7d90f6-f525-417d-9350-541f7556bab1 CLINVAR:133196 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d7b892d-e635-4456-810c-36fe40ef2765 CLINVAR:133196 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 470f880d-1bd1-400e-834d-6841c75a8a2a CLINVAR:133197 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 82b470d2-669e-447a-b4aa-08dffc5e4a9d CLINVAR:133197 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2b44aefb-77cc-41b6-bca6-cd72f34ef110 CLINVAR:65979 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e6bb14fd-87c0-4fe6-9df4-7bd79b8c2329 CLINVAR:65979 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 699b0650-4684-416c-8684-ef5eff1de449 CLINVAR:65979 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d33d865-8310-45b0-9aa5-bf556cae45c6 CLINVAR:65953 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8cc5c8c5-942a-4b19-87ef-01b31d6746d8 CLINVAR:65953 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3c3d6430-ec37-4c56-80eb-ff2535e910a7 CLINVAR:133202 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1eb87dde-0fbc-460f-98a3-2234d3320247 CLINVAR:133202 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c36bd4d-fa0b-441f-a0bf-601e6f4af808 CLINVAR:65980 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b8d97c3-6499-4688-884b-6ef073edff1f CLINVAR:65980 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a4972d67-4fcf-45c9-a027-13f8e266e78a CLINVAR:12971 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1aeeffea-0af8-41cc-aa7b-d8f0f221bddc CLINVAR:12971 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4fa9db30-39d9-4721-85f9-a9371031d022 CLINVAR:590585 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c118ecd-7bd1-41d4-bbe9-5df832cd516c CLINVAR:590585 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 74d8d567-fe59-46bf-b49e-a206d2bbb1ff CLINVAR:133206 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3903cc9e-3788-4367-8c35-a2aaca325b01 CLINVAR:133206 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9069c224-3b92-43f5-a6ad-a98e299da3c7 CLINVAR:65981 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08714141-cf06-4f8e-9c91-a279874f902c CLINVAR:65981 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2f1cee50-ae23-4921-84b5-ba39b4060295 CLINVAR:133207 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c992e12b-baad-471a-9d34-100f3d14a897 CLINVAR:133207 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b3550bd6-4a8a-49eb-810c-c54c55fe40ff CLINVAR:1330358 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef5a660c-b10b-4f54-8b00-46ca43890115 CLINVAR:1330358 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5c9744b3-dfde-4813-bc5e-dae7b3144cc2 CLINVAR:1330358 biolink:contributes_to HP:0034733 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 4857fe81-ed58-4112-90f8-cffc142ba11f CLINVAR:133217 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f4cf2e8-c8da-473f-b050-8242fe7344d9 CLINVAR:133217 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 29a42254-8c4b-4dc7-be82-622637633033 CLINVAR:133217 biolink:contributes_to HP:0034733 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar d2c908bb-2383-4c2f-a6f0-45f6c62f6bc3 CLINVAR:133219 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc9f14e3-1233-409d-b068-b5fec1f42539 CLINVAR:133219 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 21b81190-b8a2-4b17-b07b-8ee990776189 CLINVAR:133219 biolink:contributes_to HP:0034733 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar b8a83168-b06d-43b8-81be-9186fb574c58 CLINVAR:1253809 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6f5fd2f-1c5f-49a8-9c0e-defd5dfb609b CLINVAR:1253809 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb8e089a-7230-40d7-ac41-4be45bac8103 CLINVAR:642707 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6dc6f821-67c4-4379-8424-5d1cf9879ab1 CLINVAR:642707 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b479a26-eeb9-4233-8766-2fc936310433 CLINVAR:133240 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47a37174-4ce4-49e3-a46a-3b19d438dec5 CLINVAR:133240 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d3d3fdde-20fb-4258-9d9d-a168c7380756 CLINVAR:451330 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e0b15fc-239a-4ffe-9866-2ca166275223 CLINVAR:451330 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 920240e0-f5d0-4ae8-9b13-11625c8e1c31 CLINVAR:2710027 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dde2ba1a-d546-479d-8318-4402f5f9ce96 CLINVAR:2710027 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b90d2d5c-551e-4904-93e0-416d45980a52 CLINVAR:42098 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fd0d96e-dc6f-4bfd-936f-01e62af09d19 CLINVAR:42098 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3f290e4-4bf9-4873-b0da-18b94f79263d CLINVAR:224998 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79dbb8c6-10cb-46b8-b622-9e63db0902c1 CLINVAR:224998 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0833c02-6f9e-4960-96f1-1787d042cb2f CLINVAR:132994 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db845e94-aed2-4bad-b041-7bd8bd0cc6e2 CLINVAR:132994 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9d16392c-11f2-4169-844e-3b966b719c40 CLINVAR:133012 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 990bfeb5-d940-4243-8360-0f984d4a08c1 CLINVAR:133012 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d93fd80e-857b-4469-93af-1b33f9be947b CLINVAR:133017 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d01de3e-7142-4f36-b795-0b14e286c9e0 CLINVAR:133017 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8aecdb1c-d2a6-4c04-a44c-a8fb6deebac6 CLINVAR:133026 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aac1827c-b976-4cb3-846d-158422d6d416 CLINVAR:133026 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9db87bb7-90f4-4ef4-9f90-83fd57dc8a68 CLINVAR:133027 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8499f790-1b96-4bb7-b4ad-0d841ad49158 CLINVAR:133027 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57951db0-c602-4862-9b9f-8574fbaee744 CLINVAR:133033 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ededddb9-df62-4d40-9f62-6d149afc88d2 CLINVAR:133033 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 502025b2-82aa-4aad-9d2c-457b98aed550 CLINVAR:133040 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61e54142-26e7-49a2-8d32-87b42988f70d CLINVAR:133040 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 17914005-82be-4ce4-aafc-0c7d46979a43 CLINVAR:133040 biolink:contributes_to HP:0034733 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 1dea4fb6-ad64-4e33-babe-f550a66900aa CLINVAR:1071064 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84d7777e-6213-4a9a-86ea-39b58fc46ce2 CLINVAR:1071064 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b97292c8-ba13-4f70-bf48-15fba1e4b9c5 CLINVAR:1071064 biolink:contributes_to HP:0034733 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar d27f1609-7d9f-47aa-b617-c42c3d39d211 CLINVAR:12996 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84052fc3-1c52-49eb-80d3-122ffade47c8 CLINVAR:12996 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79f4dba0-fc55-4c25-9a74-8bd48db697b6 CLINVAR:133060 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a86e6ba3-a125-4759-bec4-acaf44d05e2c CLINVAR:133060 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 73b7a829-0886-4620-bf0c-2c055dd9b586 CLINVAR:133060 biolink:contributes_to HP:0034733 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 8a59e16f-3237-4a58-8329-d6a8a4585dde CLINVAR:133061 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7933ad5-c156-4910-8783-6382d8b37b5c CLINVAR:133061 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0dafb37e-3f35-4190-aca9-92ea50a43b32 CLINVAR:12978 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72dde136-6650-4efd-982e-1da086b669c2 CLINVAR:12978 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e76cc0e-e939-4c15-a37f-28e8cc668e93 CLINVAR:133072 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05e63e33-588a-460c-ac53-b0504450d325 CLINVAR:133072 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 688779cb-9f31-445c-9eef-0b0f5428627b CLINVAR:133074 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 36db1521-9f6a-486b-a199-5879ee28aa73 CLINVAR:133074 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 65124fe3-be24-4d48-b43f-3746dec91417 CLINVAR:4087686 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 923cf48a-9419-4643-9e48-acb57e74636c CLINVAR:4087686 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 869583ff-a690-4fb3-9b5a-b069473efc86 CLINVAR:12982 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f89b3772-2d1a-47c1-b739-9851ade532d8 CLINVAR:12982 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a9ba6a7-a3f7-4871-9e2e-7283a00d86d5 CLINVAR:133081 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da73ee2d-962b-4711-b7bf-ff6a8848245b CLINVAR:133081 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5558cd5-11cc-415b-bea8-8b091b8ced8a CLINVAR:133081 biolink:contributes_to HP:0034733 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar ff760b17-8f1a-4e03-8f1b-5e27a7826f2d CLINVAR:582126 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f92e11e-8d05-4e54-ad26-da58c3eae8f8 CLINVAR:582126 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dfaca816-1c6a-4039-82c2-0ab830678fe8 CLINVAR:1210316 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dbae243d-b2d3-417b-a099-5c259464e6db CLINVAR:1210316 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fcc3f7cc-e491-4cb4-a30b-2ff1c58d549e CLINVAR:1210316 biolink:contributes_to HP:0034733 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 398c20ec-d365-4f0e-a179-b14a74c4a43b CLINVAR:133098 biolink:is_sequence_variant_of NCBIGene:6261 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6dd12ddd-b251-4236-b200-ee2237447014 CLINVAR:133098 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9f63eb66-8136-4f38-8a56-d1b7b879bc9f CLINVAR:133098 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8730f797-42c9-4b36-b0b3-fe8b1fdf5a08 CLINVAR:504504 biolink:is_sequence_variant_of NCBIGene:23474 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b546929-4fc8-43ca-9f03-93c3325b12e1 CLINVAR:504504 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b988724-cd96-4a8d-881c-91844d4dbdfb CLINVAR:504502 biolink:is_sequence_variant_of NCBIGene:23474 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5179f3d6-cd5d-4f55-a5fb-827d3afbe575 CLINVAR:504502 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6e934ad1-7849-4364-8223-c7c248400184 CLINVAR:496427 biolink:is_sequence_variant_of NCBIGene:23474 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 456f7a78-de89-4aff-894c-e50d21ddb015 CLINVAR:496427 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 779c932b-7dc6-4667-9b3b-6c6c6c5d264b CLINVAR:214322 biolink:is_sequence_variant_of NCBIGene:23474 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1f84a98-3975-444e-8931-919093bac2c4 CLINVAR:214322 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 83652aec-12ad-44ee-bc54-d9dab0c9475d CLINVAR:2317 biolink:is_sequence_variant_of NCBIGene:23474 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33f1362f-6597-43d8-874f-ed3eae151c83 CLINVAR:2317 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cced62e6-6fa9-4bad-bd9f-27bb837e1a49 CLINVAR:12424 biolink:is_sequence_variant_of NCBIGene:7137 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11aa0759-23db-4b28-a620-5055ec81a4b4 CLINVAR:12424 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 420ba381-a65c-4c32-b4d5-bcc0c9a6f3e5 CLINVAR:12424 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar d3d1e8a0-2049-4983-9fa1-92dc0aa2db4e CLINVAR:165510 biolink:is_sequence_variant_of NCBIGene:7137 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 339d8362-3e88-4ba0-8367-5680d5ab2419 CLINVAR:165510 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 09c79b85-c436-4eaa-9de6-149b976c7f57 CLINVAR:165510 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar 5d23a849-f7dc-4616-872d-7b8d5588db03 CLINVAR:43389 biolink:is_sequence_variant_of NCBIGene:7137 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 500f6e1b-058b-4aed-8570-f750db41e9ac CLINVAR:43389 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a19e6350-0a59-46e6-a53e-93175759bbc1 CLINVAR:43389 biolink:contributes_to HP:0001639 biolink:VariantToPhenotypicFeatureAssociation manual_agent infores:monarchinitiative observation infores:clinvar f3b0a09c-6c18-49d4-980b-a7c2fe14ca64 CLINVAR:4077388 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4337828c-81b3-447c-b450-aeaba6f2152d CLINVAR:4077388 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca61bbda-24ae-4700-99ac-017c25f89dc9 CLINVAR:1299750 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f5566c3-0e0a-4c8f-a8b5-5d39f01bfee3 CLINVAR:1299750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 736e5a29-2aa0-4b93-9faf-543b2480134e CLINVAR:2578344 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 479e6411-d173-4493-aeb0-914364b3d44f CLINVAR:2578344 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel deef5d96-bd04-4b54-95ec-48b8dbcf894e CLINVAR:4526412 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c666a4a0-106f-4ebb-a1b3-157fbf2ef608 CLINVAR:4526412 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8bfb94da-7e13-46dc-9b23-e960d9091ec4 CLINVAR:4077386 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d15aa455-3f19-44dd-8800-50ed8c395a30 CLINVAR:4077386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb419f31-313d-4a8c-8e58-0e4e82b17ece CLINVAR:3351476 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40fc5004-c159-4754-bc88-3259ec391e0c CLINVAR:3351476 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 016c4d2f-94fe-4866-b68d-ec2ac1af98b1 CLINVAR:4071501 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8eb7ed22-41b2-4045-a206-cc53f8a8b875 CLINVAR:4071501 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 731b5d34-03eb-40d5-8ce2-ede3dc2c5db9 CLINVAR:1299752 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98dd1a3a-1915-493e-8993-e1af300e1523 CLINVAR:1299752 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0fb24a1e-5886-4024-b77d-a0723abc33e5 CLINVAR:3238975 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f37c430c-910d-47b1-bbd7-9fa09d5692c6 CLINVAR:3238975 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f63e6ef0-aa1d-4aca-a2d3-db9adbef70b6 CLINVAR:3901832 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a99947f6-410f-49ba-9d28-53ad1717ef73 CLINVAR:3901832 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 63cb3768-e5f4-4206-babd-bf57a2dc6af8 CLINVAR:3238976 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e846cf8e-1c87-4e5a-8f58-e753db0399b0 CLINVAR:3238976 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bcdf1b17-53a1-4cf8-b54c-6d92e6731e27 CLINVAR:689636 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ed73c16-32f0-4095-bb95-ff38780355cd CLINVAR:689636 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2c958c84-8683-4048-a2dc-a960c53ef70a CLINVAR:1299751 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f8de420-730d-44f8-b63a-d4649d619bf8 CLINVAR:1299751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 89820cbb-5d81-4a0a-9a09-6ddcb922b20b CLINVAR:1299754 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a630f2d-79fc-4e32-a310-8fbc8b070eb5 CLINVAR:1299754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18dd994b-46e6-4613-b768-7922b19087e8 CLINVAR:3238977 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cf778f1-1137-4338-8040-6302686dab19 CLINVAR:3238977 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc0975b8-d48b-4316-947f-4bef7ac3e054 CLINVAR:524154 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f46dac04-9915-4ea9-8f65-626777bb0bd3 CLINVAR:524154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 01862d5e-1f60-478d-a7bc-1ce1a48e8dd9 CLINVAR:3068533 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86be8b58-dd26-4de2-a405-b42a4f9e6983 CLINVAR:3068533 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7f55ca7b-7ba9-454b-b084-4bfa750740b8 CLINVAR:2578345 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8eb8361-cf70-4f0f-ba7d-754b5253d6e0 CLINVAR:2578345 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 840a01a5-fea0-40fc-9fb7-2dc42287803d CLINVAR:3609795 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b9b8b1a-c560-4224-a94a-20c6e6793300 CLINVAR:3609795 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 102dfb00-05a1-440d-8e60-eede8639d54d CLINVAR:3358878 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df23482f-53df-42aa-81e7-98efa8becb94 CLINVAR:3358878 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9c787dc8-6687-4818-beb8-44bbfa23f41b CLINVAR:3358874 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1cb2c582-3c16-472a-934c-aa70eecede34 CLINVAR:3358874 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel acb10a48-6c26-4a07-8163-de7ea10d0d87 CLINVAR:156152 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa4801bb-6880-4355-a01c-5379eb0e0deb CLINVAR:156152 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51b39379-4623-4653-8786-2be3e4e2af0e CLINVAR:372382 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 315c1133-e40d-41cc-bcf1-a7a5899150f9 CLINVAR:372382 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4ed519f3-bbf7-4485-9d61-0ed396e53501 CLINVAR:2736967 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa93d73e-fe9b-4271-bcbe-0acc89db9d06 CLINVAR:2736967 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a667e8d1-6ce5-478d-acaf-ca6a68c06851 CLINVAR:435436 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a7a3eab-43b7-4a75-a2a1-c90f88fdcaf2 CLINVAR:435436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a672fec5-f7ad-42b7-9857-9d73ee5c110e CLINVAR:520895 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99f36f80-5899-4a16-aa69-93b83c57cdec CLINVAR:520895 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9b8337cb-5175-49a6-9929-020ec59d066d CLINVAR:430844 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9806a179-c312-4213-9376-7e7f547a6bb4 CLINVAR:430844 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 05fea8f3-eee0-440c-a230-87d46a562d6b CLINVAR:393110 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2fcff8ff-ab93-4137-a4b2-739d39021348 CLINVAR:393110 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ea0fb33-ab80-4b3f-bf2c-1dd261cfa258 CLINVAR:2578346 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54956e7f-6ebe-4205-a958-c92b931f783a CLINVAR:2578346 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 046ae7a0-b2e8-4952-934a-0a94e097c32c CLINVAR:3358876 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bece1023-1773-4ce8-9de6-8f43e516ab33 CLINVAR:3358876 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a9841c3-340b-4d99-b305-af3117539f0f CLINVAR:3340454 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b1195de-062d-4675-82a6-4d709ff829a0 CLINVAR:3340454 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a86bf198-bcc7-4f2b-b48a-81f069c55307 CLINVAR:2502290 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 704b5323-38da-4af5-823c-afccb16cbe87 CLINVAR:2502290 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 736d9833-ad61-43d6-a2b1-455eb1cd3d73 CLINVAR:3068527 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3141d87-daae-4ed1-bc18-7a416f9a25ed CLINVAR:3068527 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e17f6159-37a9-4cde-877d-c3330dcd601e CLINVAR:36348 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81db6d2d-817c-4a0c-8f16-b9ee346ad851 CLINVAR:36348 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aca7e0b3-082b-43c8-980a-e90b01a66f63 CLINVAR:2505494 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 071d768c-b15e-42be-acf7-97e07b378ff4 CLINVAR:2505494 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 10032bf1-b203-4d26-94f2-aa75e902ca41 CLINVAR:3068529 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e873ce96-f6b3-4ac8-bbec-9fa2d59ae1cd CLINVAR:3068529 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 182d1f8f-861b-4545-997a-a8f9fd1601d1 CLINVAR:3068530 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7821c3cd-ca9c-4627-8498-61d5f22bbfbf CLINVAR:3068530 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfb8fd45-a509-49c1-a858-51c6bfb0b729 CLINVAR:994902 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6dc2b74-4d03-4423-9a36-997456c1b680 CLINVAR:994902 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86ce1567-7b5f-415c-ad36-17a102106ab9 CLINVAR:3068531 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 40e86268-6da0-4313-8273-1d02be3f9ec8 CLINVAR:3068531 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0dd82fed-35bc-47be-8f99-424dba3dac44 CLINVAR:995121 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b9a0996c-e3a0-4d56-bb81-c4055d258c4a CLINVAR:995121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8f2efd9a-ad68-46a7-bda9-bbc3ff6ee713 CLINVAR:427034 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2fafc73-0f39-45c4-be22-73428ff3decf CLINVAR:427034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79a6e62e-c004-496d-acbe-5e56d47a496b CLINVAR:9212 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5be9c74f-1813-49a0-bd79-482527068616 CLINVAR:9212 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 40e0e591-ea98-4621-a177-ee97c851e23e CLINVAR:1457657 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 186dc1f6-3e55-41f8-948f-b6ebe18a108f CLINVAR:1457657 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0a30877f-34a2-4622-923b-29cf54c46d2a CLINVAR:450787 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6b72b6f-1f21-40eb-8dd7-674a47c7479a CLINVAR:450787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c608270-3e79-41c2-ac60-d818f98ce561 CLINVAR:3068532 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8100d7d6-216c-4e82-8d7d-405790ae2a47 CLINVAR:3068532 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8474f37f-64fa-42e0-998c-39c4cf84df31 CLINVAR:9211 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ab9dd42-a1c9-4682-a7a1-3af50bcfb10a CLINVAR:9211 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97004de5-c98d-4e49-8a7b-b39c3802fe43 CLINVAR:2505491 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f77db0f7-581c-4ddd-adff-cb6ea08fdda6 CLINVAR:2505491 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 13b38532-d507-48e2-a561-22f78a00c6d7 CLINVAR:587398 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 324ac2b9-a9ed-4b38-bc0b-f51e13a4a3a9 CLINVAR:587398 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d8c0b7e9-993a-4921-94c0-7744396d01b4 CLINVAR:2578341 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f85c28d-b3cf-43cf-98f0-ec9c0cea09c7 CLINVAR:2578341 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4e072c9a-8553-4c6e-b5c2-99426425f13d CLINVAR:520675 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e1d73a0-e842-4a3e-9e02-76c85cdb20db CLINVAR:520675 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 142dc2a9-b168-4589-91aa-8d1189539695 CLINVAR:488999 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8728844b-6444-450f-b1f3-f0b0ed02e81c CLINVAR:488999 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 15070d39-61a8-4165-9db8-786f7c7d04be CLINVAR:2664356 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 171a763c-b5e5-4664-9732-cddf5f988f9c CLINVAR:2664356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 67d3cc52-af29-40a7-85ed-4b496ef51464 CLINVAR:2574633 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4781be50-057c-4d28-82ad-59ac754c9012 CLINVAR:2574633 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d15e6b82-eb89-432b-9ab6-eaee9445d228 CLINVAR:3238968 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6aa50c9a-d635-4d78-9fda-55f81233d4fb CLINVAR:3238968 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f9bad1b1-e2dc-4e41-9b15-df2a2f636926 CLINVAR:36355 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8859c59d-7c37-4b25-bfc0-f1289968749f CLINVAR:36355 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8b92f6d5-1ccb-4e4f-b1fa-8a2fb9707936 CLINVAR:2580600 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ab620918-8a8c-43d7-9d77-4d3372a7bbf4 CLINVAR:2580600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel df2b153c-39bb-4555-b408-bf9f1a2c5715 CLINVAR:617652 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c79ce42-445c-472c-b62f-d049feb09562 CLINVAR:617652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 41cf59ad-6f42-46c3-835e-6abcb12f287d CLINVAR:2502288 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0bf73438-d15d-4cd8-9892-9c823c4ab934 CLINVAR:2502288 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4c118a9b-9e43-4cab-9756-606eb1b43105 CLINVAR:9215 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf5f51b9-dd97-439f-99d5-a0330ce53936 CLINVAR:9215 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e92009e-e3ab-410c-bf72-09e7d4bd4d33 CLINVAR:3238969 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46f20baa-dde6-44a0-8a65-b155201c4338 CLINVAR:3238969 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16c2538d-c612-4382-8717-62331c343459 CLINVAR:36356 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b8a8f03-2ae9-47b2-bb67-630ec477ee16 CLINVAR:36356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0b0696df-0caa-49b1-8580-61fa41edbf91 CLINVAR:1186689 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b27fbc1-09b1-4ce8-a7db-f4d4729ecb9b CLINVAR:1186689 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 72f3bbad-cdcb-4750-9135-6f4935fbc801 CLINVAR:447520 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9ca3eda-5d6b-42d4-b97a-6a060c061d03 CLINVAR:447520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7141260-2a42-4b72-b207-80b97936552a CLINVAR:447521 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8c7668c-1ba6-4e01-8333-ba64159bcdbd CLINVAR:447521 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0724e5d-f49b-498e-9c62-a513ed3ce4f4 CLINVAR:3238974 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e498e4ca-121f-4311-ba44-b6fd83e846eb CLINVAR:3238974 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5731498-8ece-43df-a6d9-b318866e061f CLINVAR:804917 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e9186e3-e099-4f35-aa9c-ea43850d7392 CLINVAR:804917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c374315e-ac92-40f5-86d6-860dff13ba6f CLINVAR:2581134 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2d8c686-a3ce-46c5-9ccc-4bfe5a65e790 CLINVAR:2581134 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 609c8741-8bc0-482b-aa79-9b71b9072b5a CLINVAR:3602122 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e445374a-6c93-4231-860f-0265af36c98f CLINVAR:3602122 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 34ac0512-6a80-496d-aaa0-b2bac9269981 CLINVAR:435438 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00c316fd-0f8d-47ef-b44a-1dc9b571333c CLINVAR:435438 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0ea40847-a404-447c-a4d7-3752a8c7b467 CLINVAR:447522 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 656bbb42-954a-4e30-a9d8-5ef9437f4081 CLINVAR:447522 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 41b932d0-6b7f-4488-9eec-bcf529e27802 CLINVAR:9210 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9e39011-fffe-4d6e-91c5-45f1743dfa75 CLINVAR:9210 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9bf08ce-c5e8-4685-89a2-ef8d889f3fa5 CLINVAR:549555 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b83e5a3-643e-46ea-bd7a-b8c03003e4ca CLINVAR:549555 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c01a2576-a9ba-4c57-9296-50825bd2bf3c CLINVAR:1700660 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9449b295-b313-4dfe-ac54-51f15922bbb4 CLINVAR:1700660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4dcf76fa-2f85-4f9d-969d-a3502a4dcf56 CLINVAR:447524 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56e4314d-8a93-4093-8485-8ee33cfe099f CLINVAR:447524 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0832f37-8ddb-47ce-8092-3c369afab9c6 CLINVAR:804918 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48368775-bcda-475d-a1a9-92a7aaab9304 CLINVAR:804918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0be77cdb-2049-4078-822d-f29731663e3e CLINVAR:3234008 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b8fdc028-965e-49e7-aa80-3a6194c9df87 CLINVAR:3234008 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 89d58ebd-fdf7-46f9-b350-f33f21ff278d CLINVAR:3234003 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 114a0f8a-40f6-41be-9900-b38a58a1c06e CLINVAR:3234003 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 09904a34-e17c-42bd-9426-eaec0febf5a5 CLINVAR:2574172 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa647ab2-3a86-4e8a-aafa-1dbfc92e9e2b CLINVAR:2574172 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 985f5cca-24aa-4710-9c13-7edbc46e2f36 CLINVAR:2574173 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a9c974f8-21b7-448d-b121-5d1c4c99a59f CLINVAR:2574173 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7db8fe0e-3b85-460e-83c1-62254dd55012 CLINVAR:3383936 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 694e161c-d197-4b4c-823e-f8b20519a94b CLINVAR:3383936 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0e5e24b0-b15d-47df-928d-a586c9d7ff26 CLINVAR:36364 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5cf0032-f46d-4110-b3fd-72a44dbc2b63 CLINVAR:36364 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 97fb212b-9a2c-4a8d-98d6-e652c9add4b8 CLINVAR:424599 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55c10f28-da8b-4ea7-8bd4-5dfd2a98d6be CLINVAR:424599 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 96be600c-0041-40b0-b5ce-7aeda2a1f7c2 CLINVAR:972810 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5571e231-e86f-4a69-9a69-65cb97b28dd5 CLINVAR:972810 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2a6644ed-991b-428e-9f9f-1f584da29d2c CLINVAR:36365 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0888a583-d6ff-446d-ac49-220c128f6643 CLINVAR:36365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 50243cbb-a3f7-49d8-a17d-ab9a7c48c32e CLINVAR:586023 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 29a50f40-e290-405f-9c89-cc49e1ae5afb CLINVAR:586023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0430002-0458-4c11-84e9-e23a473edbf2 CLINVAR:2018786 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f71810ab-c72f-4300-8bf4-9ad7712b4b69 CLINVAR:2018786 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 47a63ca4-358e-4bdc-b6f0-8bae4d6c182e CLINVAR:2691836 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a86938d-ed9c-49b4-ae84-b124eac4180e CLINVAR:2691836 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2b9c7322-a660-44b9-b2ab-c9b45e8ed55d CLINVAR:435439 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3086fdb5-7d7e-47c5-843b-0f7fcada9dcc CLINVAR:435439 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 65813d35-cd62-4526-ac57-4cc6f35118e5 CLINVAR:987818 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c9fd12c1-45af-4181-a905-57271801d782 CLINVAR:987818 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55dacf81-61b1-4254-8863-588bbbcf76ed CLINVAR:447513 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39fe7a9e-aa49-4bdc-a1c2-ef782e94784f CLINVAR:447513 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 273f89c4-a2bf-4d45-b549-2117fea7e749 CLINVAR:3370457 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c44e053a-6540-4f5b-9818-c4ed30cbf268 CLINVAR:3370457 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3dfcc8b3-2407-47e1-9c27-a38bff7e3884 CLINVAR:1700663 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fdfe6cf-6d04-4b98-b103-dc10e1628502 CLINVAR:1700663 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63f7e5db-088b-4e40-959b-14d06df624c6 CLINVAR:3383754 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d169776a-dc3d-4eaa-a027-c9b94b2b5c2d CLINVAR:3383754 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e7088d99-d7ec-4274-9099-64b7903f429c CLINVAR:3383937 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdda6491-fcb9-4573-9b8d-168f3e7ec046 CLINVAR:3383937 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3661b83-a5c6-48cb-b647-68352045c6e9 CLINVAR:3602120 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81f29749-fa47-4c4c-9db1-a048c596e1b3 CLINVAR:3602120 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c7cc78a6-3d25-48ec-8137-836f4f2d32ba CLINVAR:1700658 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f4d93c3-5a08-4c6d-a6d2-0cf17cdbbb14 CLINVAR:1700658 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6acb38f9-0956-4b5b-8f2e-e030c02094d3 CLINVAR:3370456 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a369f30-3d7b-474e-a98f-fcddad115314 CLINVAR:3370456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7c1ee3c-1078-436a-8bab-6254563c0810 CLINVAR:9216 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d00032a9-8a18-4eb9-afa1-2914b7b56402 CLINVAR:9216 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a726339d-15e5-442d-9053-c3fbcfaef614 CLINVAR:3383938 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 725f527a-e8de-489d-acbd-01aabf0b007a CLINVAR:3383938 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c133c1a2-59b6-4961-9e27-0a2efd481e61 CLINVAR:2580875 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ab47d05-420c-4254-b95e-4011a88f0dbe CLINVAR:2580875 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 64873949-d8b8-4dbf-bda9-42d571047c5e CLINVAR:3393515 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fb349cc4-f299-4f4f-baac-98da81e9e674 CLINVAR:3393515 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87b21521-8ebf-49a9-bc26-56ece0eb73f0 CLINVAR:4540582 biolink:is_sequence_variant_of NCBIGene:3172 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fe922cc-28dd-41e6-808f-e43fb6db4bde CLINVAR:4540582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 161fc6a4-a806-4557-96f7-68ef66ddf20d CLINVAR:558340 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 279c9f9e-7bcf-40b6-ba6a-f59261b93306 CLINVAR:558340 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 40a46158-0b79-47e3-8491-2fa4ae5ee0f5 CLINVAR:1959 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d1bd3932-2039-474c-a59f-bb1e9e7f6b41 CLINVAR:1959 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ad96d561-5b1d-498c-93a1-fd27e3c5a65c CLINVAR:2138345 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a26dcdd5-92f7-4b70-8805-5fc19a0f5e73 CLINVAR:2138345 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5bed993-9ba9-4113-b1dd-aea77349a914 CLINVAR:984454 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ebaaf08a-b97c-4030-83ec-80bfd7fe2b74 CLINVAR:984454 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca93b790-a08c-43cd-aa54-ef9a7fe58e9e CLINVAR:1505857 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d02a47b8-93ac-4808-a7b4-2462c31c754f CLINVAR:1505857 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1cc716bd-e6bc-4567-9764-d625c420c777 CLINVAR:402341 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce77d07c-9a87-4f55-a907-d3b2cad164c0 CLINVAR:402341 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0ea3d83-d076-4a3e-9134-bfebbad8c06e CLINVAR:1335461 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc38a8b8-cb2d-4539-909e-420aa07c41d9 CLINVAR:1335461 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4520b33c-4531-4b6f-b0bd-d162a6a06b6c CLINVAR:549915 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3aca8ca1-50b9-45d5-98bc-2e0c81099501 CLINVAR:549915 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 27dec80b-7351-4af5-a916-86760345dfe4 CLINVAR:468281 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5554da16-d9c0-461b-bba0-3ec68d857c7d CLINVAR:468281 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 015b147f-d176-486e-9047-c85fb929d959 CLINVAR:1968 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37ffa5b2-dcfa-4749-b633-e57f51916e3a CLINVAR:1968 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3446618-e339-44ea-bc57-fbea1728db44 CLINVAR:1957 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a294b94d-fcbc-44f0-ad68-e94d2c8e6109 CLINVAR:1957 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 00b98be4-3708-46fa-8c53-093084660c64 CLINVAR:1966 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95f75385-1513-49f7-962e-bab0d540c653 CLINVAR:1966 biolink:is_sequence_variant_of NCBIGene:11142 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff0968ff-d5c4-4311-9eb6-0e389a607cdb CLINVAR:1966 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a661bd73-e46f-4496-ae95-44746bd586f0 CLINVAR:1901446 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 540da027-2dac-4403-b751-d5a37b651f81 CLINVAR:1901446 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5775703f-c5c7-4d80-aca7-358c04d1f16f CLINVAR:555182 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13e34ca9-ebc4-453f-8341-72fcefde936e CLINVAR:555182 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e9572599-ab18-4d04-a95c-62f177e3c1c7 CLINVAR:1406981 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 333aaaed-02f6-4cff-9b0a-df2c546b42c0 CLINVAR:1406981 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cc4e96bb-03ea-46bc-81a7-b1bbf7304f6f CLINVAR:505549 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fbbf241-bcb7-4a32-8ee1-9c79c93059e5 CLINVAR:505549 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33d7089f-26eb-42f4-904a-a811033d024a CLINVAR:983781 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 854b89a6-863e-4239-bf1b-e9bec016e0eb CLINVAR:983781 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eec42c2a-713c-424b-917c-c1cb5e90b649 CLINVAR:983782 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 808aec00-9f7c-49f8-95ac-9c7516f86804 CLINVAR:983782 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 09c3a752-26bc-4582-8cd4-27df5a740eae CLINVAR:68264 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24aaf58a-45fc-49cb-a99f-1e201d64d9d6 CLINVAR:68264 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b0c44221-3bfd-4f0e-ad3a-8f421aed2d14 CLINVAR:550821 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 616fbfbe-fa92-4ebb-b34f-2c1175fde7f4 CLINVAR:550821 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 107aa17d-02b7-4704-837c-b0e150195571 CLINVAR:1473380 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a83aba5-e08b-4c13-95e6-cacc0511f80f CLINVAR:1473380 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2485ba27-d912-46a0-82b0-3ae1898e9223 CLINVAR:1969 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 634a138b-b149-4e13-90e3-a892fec6b1e4 CLINVAR:1969 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2807e76a-0429-4f10-8c54-f707a4000b39 CLINVAR:1075328 biolink:is_sequence_variant_of NCBIGene:100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33afc2b4-0280-4565-a33e-94045d70dc64 CLINVAR:1075328 biolink:is_sequence_variant_of NCBIGene:107303343 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7a35298-d5fa-4470-be21-17358d0fd1d5 CLINVAR:1075328 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 723e9e46-8482-4285-87fa-44e3d4032eb9 CLINVAR:2808406 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33478d8b-43db-4ccc-b3a0-4d59b1ed8454 CLINVAR:2808406 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 95bcb151-dc7a-4242-8cb6-f2a3595ff478 CLINVAR:2028205 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 827cd7b0-d5c4-440b-a607-22d4e7464e36 CLINVAR:2028205 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a3473ba2-1bc5-4fdb-b808-d7bcfe75d172 CLINVAR:3791500 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0eb84598-a24f-44b5-a5ae-9e69d30bed0b CLINVAR:3791500 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 140f996c-16c6-4f8d-9ab5-c5185196ed83 CLINVAR:532664 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2285d03-f4ab-44b6-a8e8-0eba5975a3c7 CLINVAR:532664 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da74f1d1-03dc-4b74-bd8e-d5573b0018b5 CLINVAR:1349747 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c2f81ce0-dbb2-403a-83df-585d2974e039 CLINVAR:1349747 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 39c2c55f-0052-470f-b78a-ec33938466a2 CLINVAR:1703793 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b95212b-a1db-4335-9c1f-835988f3a364 CLINVAR:1703793 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 098ffaa1-c800-49b2-8236-9c1cde9458db CLINVAR:2579542 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cb0c1f0-9021-40e6-bf40-6253d000bbc6 CLINVAR:2579542 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel be486d41-edf5-4fe1-94cd-3b1efc990bf9 CLINVAR:2857331 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5752008-4043-4ebe-ba2f-f7277232243d CLINVAR:2857331 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6cef3569-81e1-4fff-8622-09d5175ad973 CLINVAR:409824 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57de94aa-4f62-4779-a02a-390551e6083e CLINVAR:409824 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ef676f3f-aea9-4eb6-bbe2-dbb1503d13a9 CLINVAR:2106464 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c628613-b211-47e8-b523-15f5c7152bd7 CLINVAR:2106464 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7fbe2228-66c4-4784-ae37-dbd47956346d CLINVAR:931873 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec8e23db-1069-4722-8c3a-38675bed7617 CLINVAR:931873 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3b7dcbe0-14c4-4662-9645-b712fad9929c CLINVAR:2857333 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e366a132-4cae-4777-a734-1cb199b1c57d CLINVAR:2857333 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel eedc3df0-be3e-4f47-a6f8-26ab269dee1f CLINVAR:2757091 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7216944f-2c7e-4c1b-be44-ec5fc167a6d7 CLINVAR:2757091 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3132a9b3-c8f9-4948-938b-4d52a5398809 CLINVAR:561226 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ecf3150-ee28-482c-9d55-6086861e08b8 CLINVAR:561226 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1f44a22b-6c82-46a6-a5b9-54facc91061b CLINVAR:2504110 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2eb6d0cd-fc29-4099-9f0a-959362cda867 CLINVAR:2504110 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 62ff5657-ff34-4b30-862f-cd6108294345 CLINVAR:1194557 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87a12a04-0bda-463e-9e18-2b55eaaa80f1 CLINVAR:1194557 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c927a935-2763-4c4b-9184-b1736e73a798 CLINVAR:2008798 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd131647-a0ad-460b-991f-28942b3ad770 CLINVAR:2008798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 28abecac-eb14-4a2b-8b5f-31aad4f38483 CLINVAR:561224 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a6abb68-6f7e-498b-bdb4-edaa82f13aa8 CLINVAR:561224 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b653707e-4ad6-4819-a1a1-c649470880f0 CLINVAR:1211932 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5562b0f2-5da0-485a-9a2c-ae88be739260 CLINVAR:1211932 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 419322dd-bbc9-4fc9-9a0f-a70539132adf CLINVAR:2820100 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ceb44a27-87fa-40a4-bdf0-207891122c34 CLINVAR:2820100 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6565827d-dc73-42fa-b787-4f074188c9b2 CLINVAR:1065583 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 899bd2c4-21fc-4ebe-b166-d47a3356353f CLINVAR:1065583 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ce4a956a-be49-4c39-b984-a8b5b6c22f40 CLINVAR:1041897 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2f75fbe-393a-4871-aa1d-6d8e7e65c3dc CLINVAR:1041897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c7539b95-9c66-4e27-b603-5a33727d34b9 CLINVAR:871175 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a698784-87d2-4205-8d24-a25c6688894d CLINVAR:871175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1cefc21d-306f-4990-bcee-38a4fa628c5a CLINVAR:2129871 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec52ba8a-947a-4e50-8382-5d520f15d3bf CLINVAR:2129871 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4ad71d7b-4567-41a1-92b2-d81bd781e142 CLINVAR:3365552 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0850fa81-4388-4db9-b94d-60530d9d33ae CLINVAR:3365552 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 32e9d688-3e2b-40e8-8ede-fb020095c4bc CLINVAR:2730693 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ea63230-8492-4bee-8cc3-017ad1ed810c CLINVAR:2730693 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ad9c0add-f581-4505-9119-b15c34904aa3 CLINVAR:2734274 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71fe9194-8fc3-4275-8326-9f6ce3c974ba CLINVAR:2734274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 990a6d50-492c-4db7-8914-7755ffc4afda CLINVAR:561223 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c66e33b9-7b6c-4efa-8b47-0eccf624b18a CLINVAR:561223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c9d86d7f-35ec-498b-a21d-6df99a5f3b6f CLINVAR:2631353 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ada3fa2e-7c4c-4560-bb6a-3d0e9b2211b2 CLINVAR:2631353 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3ddbd964-6fc9-4ac8-8e14-eba4a3072ae0 CLINVAR:561222 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 790f71af-101f-48dc-92c7-527bae90b14c CLINVAR:561222 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3e7fbee1-b135-4ca1-8c72-8df0fd7b3552 CLINVAR:1338564 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 139ccdfb-0a00-4e9f-85cc-59b25c42f255 CLINVAR:1338564 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ec531fc3-5e70-48d5-8b8a-9b8deb87a967 CLINVAR:3661791 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca7889b1-866b-4cde-ad0c-15dffbfe6911 CLINVAR:3661791 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 11557e9f-e060-49ef-a9bd-ebae862dc3a6 CLINVAR:3340075 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 635dfc10-fd5f-4365-9275-f805da416684 CLINVAR:3340075 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e97fcd49-1143-4c3a-97b9-a0dc13bf48bd CLINVAR:1710503 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 853be959-ac1a-4c4b-958e-25837c42a430 CLINVAR:1710503 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bd833b7b-131a-4740-bf31-e7faecfb13d4 CLINVAR:3727697 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be7288a7-2edd-47e5-a7e5-9edb8f110790 CLINVAR:3727697 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 63c356c1-00e6-4236-87a7-059d19bfc7b8 CLINVAR:1013621 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06a0351d-2e3a-49b9-a88a-e6de653d04c2 CLINVAR:1013621 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 17b7314f-f19d-433d-9914-478cf7c76d53 CLINVAR:836448 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 520b4e69-3582-424a-b2fc-1500f5c0a5b2 CLINVAR:836448 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2b750dd3-9492-4653-9747-6bac515d9776 CLINVAR:640778 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e89a4aa-853d-45bd-b767-877dc4b84b95 CLINVAR:640778 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0f1f23b3-6ccd-43d0-8a46-03c649a67767 CLINVAR:2634012 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b3b1de2-8941-4e18-8971-5ce19ac58f79 CLINVAR:2634012 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e1ba77c0-ded9-4ff9-84bb-7dacbd9f48b4 CLINVAR:2840535 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81098067-64f2-4631-b976-cce8b8faed0f CLINVAR:2840535 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7dc4837d-1a57-4900-92fe-3b375e258aaa CLINVAR:561221 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9115783a-7830-43e7-a74d-b069732e1b10 CLINVAR:561221 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5f74bbd-560d-4ed3-bb88-47c662e5432b CLINVAR:1338557 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0595d32-6ad5-405e-b9d4-13dac5485a87 CLINVAR:1338557 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9c683290-feef-40ff-8a42-774c0c458123 CLINVAR:1996223 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da43a23f-2e8a-4272-9209-58632fbdbeda CLINVAR:1996223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bb1764ff-2e31-4e69-9b5e-c384ca9d2625 CLINVAR:2665099 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ce8284e-d934-4ef9-88a3-02163a35876d CLINVAR:2665099 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7749486e-eb9e-481a-861e-1a336ca7aa01 CLINVAR:869208 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79f33da7-e9d6-4ca5-ae31-9dc002a1e442 CLINVAR:869208 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4b0d734f-d5f2-45ee-93af-14e86facd2ec CLINVAR:945290 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6fe0cc76-4ebb-47a9-b72b-fe5d2d29dcf3 CLINVAR:945290 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 115efec1-5bb7-4f3c-a969-10f476bce10f CLINVAR:3766477 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc2b9bbb-3596-414c-bb0e-037e34cb952c CLINVAR:3766477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f1d28a1f-f29b-466d-b5f3-7919c4846a87 CLINVAR:1460663 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc2f6203-6ac8-42bc-9ca7-3c34afe7a769 CLINVAR:1460663 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 83499d03-5748-4689-9198-4d6166c94c5b CLINVAR:1684398 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69407ad5-245d-4adb-9fd3-7d200ed2fe08 CLINVAR:1684398 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 71d219f5-e4b0-4ffa-bb84-b0e2c13df7b6 CLINVAR:618862 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da27cbe2-e812-4724-9c29-968b0ee5e79b CLINVAR:618862 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e349b14b-e3b7-4211-a182-423eeae2bc7f CLINVAR:1323540 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 303c2abe-d0f7-4dfb-a911-c4e7728f7714 CLINVAR:1323540 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 86db1e32-2d17-4fd4-8d0c-44e7ef27be59 CLINVAR:2851140 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce225816-641e-4181-91d5-3e39b1cca292 CLINVAR:2851140 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f9d4b0ed-b7ee-476c-ac62-907110ef523e CLINVAR:2839740 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78939b77-ed7f-4bb8-97ec-f5269fff104a CLINVAR:2839740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a3b920c9-59cf-4028-aba7-636a028209b2 CLINVAR:627152 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f396551-59fa-4a84-869a-f8ec7b539fd2 CLINVAR:627152 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c07bee8-d473-4cbf-a5ba-715f7e3105a6 CLINVAR:14467 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e0d969a-8280-4d9d-8048-d5cbf8198d25 CLINVAR:14467 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a76a2a9d-39f6-4bf5-9f08-7545e085aad5 CLINVAR:934175 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe86dc9e-bfcc-45c0-b3ce-622fc0e350e7 CLINVAR:934175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9274e3b2-f400-4a9d-92fa-8ede4a929874 CLINVAR:1691248 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e443588e-5887-4a2f-af54-623a72d78cce CLINVAR:1691248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 171a9dd0-83b7-420f-9686-b1e42b987524 CLINVAR:1338044 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf302ec8-a67c-4ca0-abd5-b2a5338252db CLINVAR:1338044 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 336b35a8-b6cd-4330-94a5-b406dfe07264 CLINVAR:561256 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a457214-0f3f-4fc7-b081-5fbb35bdb1d2 CLINVAR:561256 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5e9fc456-4c9e-403c-9b5a-e8aa94473c36 CLINVAR:2997653 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d444495-b0dc-4cbd-84ff-acf3eec58ec9 CLINVAR:2997653 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 74ad621b-4f43-4ff4-92d3-bbbd6a2682ef CLINVAR:2123057 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4216a3d-1579-4daf-827f-34fc1427644d CLINVAR:2123057 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 76ccfe60-f6c0-4575-8a11-c4c4515a1411 CLINVAR:1066009 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 701b25c6-ef6c-4c6c-aa99-92af1e3e514b CLINVAR:1066009 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8b398c22-03dc-4f37-b2b2-348af30d80f6 CLINVAR:2094507 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59f3ed2a-a213-4857-86ec-eb5c39badbc0 CLINVAR:2094507 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05051764-8150-4f24-839f-af532b8a4cc5 CLINVAR:1348351 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95dad8eb-c10e-4692-94fa-a6300f40374c CLINVAR:1348351 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6fbd86f1-a5a2-4e16-a0a3-9aad318f1457 CLINVAR:1684407 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33601779-f0ef-484f-ba71-8822d3958641 CLINVAR:1684407 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bce75715-6b99-41b6-acb3-20df77bd684f CLINVAR:3067798 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c27f7951-0a12-4027-9644-84211c369e85 CLINVAR:3067798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 52b3e7e7-4368-483a-8db2-c1f9481fff6d CLINVAR:2014537 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aedae642-deaf-4419-8768-832a6f409dcf CLINVAR:2014537 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5407ea33-50ce-409d-83af-b92dcf916245 CLINVAR:3370501 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ad947ed-2a8d-4331-b380-b28be1403af9 CLINVAR:3370501 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1bb55cea-10e0-48b7-9920-68eed4d790f6 CLINVAR:627384 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff58eeba-079d-445e-bec0-33e2efac9899 CLINVAR:627384 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 62b96c0f-37cf-4091-8aa3-46143a6470cd CLINVAR:2003897 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71b3e55c-55eb-4ca8-8537-4980ca51b31c CLINVAR:2003897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bbf45794-3a08-44a1-b8a4-1b36283439f0 CLINVAR:3240390 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6879b566-24e6-4440-abc7-2af2e389fbd7 CLINVAR:3240390 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel db2d19c9-4549-4391-a1e2-9e1180d5b4e1 CLINVAR:1071785 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c191553f-e4bd-46a4-84f9-53a57f9279d7 CLINVAR:1071785 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 682c164c-394a-46ef-aa5f-cfd5a1a1fff5 CLINVAR:3725077 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fcbd89f8-5ccc-42e5-9e6e-9c99cf320457 CLINVAR:3725077 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8c0a288f-f18b-4985-b8cc-c1cbb62068b9 CLINVAR:1691247 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e0feded-7d6b-4281-8226-d3b1c4cc503b CLINVAR:1691247 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b32e5c5a-3337-43a6-9c97-543c3a2327b1 CLINVAR:2018650 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8c6df45-52ea-4a20-8d0d-32939442da0a CLINVAR:2018650 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f834fba7-374e-42d4-bec6-29f4a6a6633e CLINVAR:1068986 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4c40d6a-f311-4adc-a79b-d12faad336e3 CLINVAR:1068986 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ee26156-ccd4-4684-b072-97a48cb49fec CLINVAR:561255 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75d7fac5-881d-4226-a2a9-754bcc8c85c7 CLINVAR:561255 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df8308b8-a24e-4c52-bbf4-ef3566c04bf1 CLINVAR:3255392 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d9f655a-2600-41b3-9572-103c8f06a0d2 CLINVAR:3255392 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1e49946d-bf61-445d-a3e7-9def42878423 CLINVAR:3255396 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3814aa03-593d-4824-8824-3189e5a446d9 CLINVAR:3255396 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9a1c71c-87e6-427c-bd2b-a65b3d84a8a2 CLINVAR:2799017 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44136854-27b2-4f50-b7e3-d4be89a2b869 CLINVAR:2799017 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 99892b45-e8c4-4d71-bd75-256761f5c3ac CLINVAR:3255395 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65c50398-162c-4939-885e-db0149f40910 CLINVAR:3255395 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eff29207-1585-4687-991e-d77bdd293421 CLINVAR:2701885 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86bed2d1-c3ba-4770-894d-2d8d55ead66f CLINVAR:2701885 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 04369052-ec47-4b3f-8755-d55314e2393a CLINVAR:545522 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a98c330-09af-4a0d-b9bf-8fcd882954bb CLINVAR:545522 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efb825b3-7a85-4bea-91c8-56376d3ac369 CLINVAR:2839411 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e844a4f1-493a-4def-8af9-848cd06d349f CLINVAR:2839411 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b85f1a35-6cd5-482a-9ce1-d0e4d779da7c CLINVAR:1074352 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c971c901-13d4-40c1-8fa8-64ce8ac460b2 CLINVAR:1074352 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0f2c504c-1eaf-4663-92b2-673192996a26 CLINVAR:3255394 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57002a82-ed7c-4ebe-968f-236b4c29d125 CLINVAR:3255394 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91ba167a-eba5-45e3-8d80-2c9ce3aa3399 CLINVAR:1460018 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8bbadd9c-5400-4df6-a34e-12e63ebf2417 CLINVAR:1460018 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 394f16f2-df61-47cb-b6a4-d7cb522974b8 CLINVAR:627101 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09e619f5-9b2e-41ec-842a-804a8bc7c36d CLINVAR:627101 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d37890a-46a8-45de-925c-7338583bb3a3 CLINVAR:561253 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3c4574b-06eb-43dd-98ea-c073319426d1 CLINVAR:561253 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdbee01a-068e-49e7-a632-e0a16b92fcbc CLINVAR:561253 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a9e941e-8616-4984-9a43-9b086a5473dc CLINVAR:561252 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 564b91e1-f47c-4baa-b705-e1b1142607ec CLINVAR:561252 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34e4af23-c322-4570-be48-c588b044ff8e CLINVAR:561252 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ec44d1f9-4882-42fe-8389-c3963d6da3e8 CLINVAR:2177591 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c60d73a-98b0-4a6d-a725-d1e4ed1eac28 CLINVAR:2177591 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2498e72d-7bf1-4721-8aec-48e52c79795d CLINVAR:2177591 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 13ea4f37-fff9-4651-a2e1-c368dd492a1c CLINVAR:1073884 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77a9972f-e054-404f-ab05-aa843d0f5868 CLINVAR:1073884 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99e79edb-daa9-40bd-a92f-367c00d62c61 CLINVAR:1073884 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2892afb-d0de-4ac7-b2d3-6189e0c6a1ea CLINVAR:14464 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3def9b3-2246-4173-b60e-b75974e82d96 CLINVAR:14464 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ffd1c40-2d8d-4e67-9336-fbd27e561293 CLINVAR:14464 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7a84a95-d939-470e-a44f-cca41043f00f CLINVAR:376018 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ca27770-f13f-45db-8cda-b223c66297b2 CLINVAR:376018 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5ed10c0-27f4-45eb-b6c4-2302f220e138 CLINVAR:376018 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ba449d5-80b9-419a-8061-dd83739791a6 CLINVAR:1706546 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f84a62ae-4002-4f29-8203-a4e2d15bc4c1 CLINVAR:1706546 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33ff17e7-c845-43b2-94c0-f1c0c75d9189 CLINVAR:1706546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9567cfa2-aa10-4b02-8107-d9bbcbe1d9a3 CLINVAR:869210 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05637a17-4982-4c68-b2c7-88e77a9ae3f4 CLINVAR:869210 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a1d583f-fb52-4e53-9f86-372c599722a1 CLINVAR:869210 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 09dc2e05-7b99-475d-ae5e-024e8903a220 CLINVAR:3650681 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e674f7d3-dc5c-4586-b45c-26ea8f9f15af CLINVAR:3650681 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7699fcc-5dd6-46aa-8e94-2a2cd392cdea CLINVAR:3650681 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f7637fb8-de48-4012-a69a-07b3cb549b96 CLINVAR:627342 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78af66d0-8933-408f-9de6-3175cc059291 CLINVAR:627342 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd1a7985-36e1-4be4-b18b-78c2d0dde651 CLINVAR:627342 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 825dd86b-413a-4d74-92c1-fb5a0df50635 CLINVAR:3342374 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc35dbc8-543d-43d6-af9f-8830ec8ce042 CLINVAR:3342374 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ab641de-c45d-4f17-994f-8bd0fca27481 CLINVAR:3342374 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 477809e2-ec10-4b9e-baf6-04d57a0de3a1 CLINVAR:561251 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe929c95-cc02-4472-8673-67634b99c290 CLINVAR:561251 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba6b0c33-13c6-4c29-964f-ebd837c65858 CLINVAR:561251 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b37c01df-6a33-4179-a881-38cc18dcfb03 CLINVAR:2665098 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2067dc4-8a7e-498a-a089-25b5574b3b00 CLINVAR:2665098 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14155dd6-bc24-4157-be82-b1822acbfd0a CLINVAR:2665098 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0a252dca-fa86-4401-b83e-ada422129deb CLINVAR:3340076 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e3b3583-480f-4aed-9734-3904370fd3b6 CLINVAR:3340076 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d82fb4f9-c69a-4163-b86a-728373d31ffa CLINVAR:3340076 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 41c4cf9c-d103-431d-8643-bde1dbd8883a CLINVAR:1013620 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ea5e050-62bc-4f67-b396-c2093adebd6b CLINVAR:1013620 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a6223c5-6e3a-464c-b392-e159fc9e81b1 CLINVAR:1013620 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 265c5cc5-6e88-4fce-8642-7ac3cfea0ae8 CLINVAR:988811 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62645421-a401-4153-9e3b-4aad3319d05b CLINVAR:988811 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 903e69d1-4476-4c24-80a0-1b7a18c9195a CLINVAR:988811 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b0c644d0-a7ff-46bb-92ec-9b287647b993 CLINVAR:1438546 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 137ba843-d261-4c71-a22b-0da31e994c15 CLINVAR:1438546 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc3b911a-3e64-46f0-bd0e-33e2ddf44170 CLINVAR:1438546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce0ad393-f7b3-429b-a85a-164fba1ca28f CLINVAR:1684431 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 159d260c-2c1b-4ab1-81bb-241181d42338 CLINVAR:1684431 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efe1eb0c-a105-4241-b332-2397d7ddac6a CLINVAR:1684431 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 47595f31-306a-4b5a-b995-803b932c0711 CLINVAR:561250 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c9d81b5-46eb-4813-9433-39c60ed08c83 CLINVAR:561250 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48905839-65ac-4656-9c99-76ee239f4fe6 CLINVAR:561250 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 76c70309-62b9-45bf-88a3-aa04af90dee9 CLINVAR:561248 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3e6c73d-66f8-4062-95b4-046ffc2194f8 CLINVAR:561248 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a8aa2f03-08e1-477b-9199-9978274ff68f CLINVAR:561248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8936bbc4-a6e7-42f9-ac50-01043b465f85 CLINVAR:3257846 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 318f83a1-5275-4c1c-9039-336c9be5392a CLINVAR:3257846 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e97a5c04-7244-467d-938f-710c2e8463b6 CLINVAR:3257846 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42f3d1ff-60c5-479c-a834-1bcb9132b38e CLINVAR:2808511 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 248037a0-aa17-4549-b6e8-27ec478cd8bd CLINVAR:2808511 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9240b9fb-cf44-4130-83d7-10caabd45c6f CLINVAR:2808511 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 52d037c7-d949-4b47-88a4-02c1570f381d CLINVAR:1074523 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 226c099a-7f09-4f6c-a9e4-5963a1cd6473 CLINVAR:1074523 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3d789da-4bc2-44b8-ba5b-1df916d6e800 CLINVAR:1074523 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 30334a33-cf83-43e4-9b72-59261e2ed5b6 CLINVAR:2717092 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 21e59044-7412-4c93-8c37-5daa28c607be CLINVAR:2717092 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06f6f177-bcf6-4556-b327-0f7b1475c3db CLINVAR:2717092 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2e44af98-d54b-41e5-9a64-e075b1224c3b CLINVAR:3768410 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f90d1339-539c-468b-99ff-6354a62edec4 CLINVAR:3768410 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ac79603-b0db-4f6a-be4b-37777f243e8c CLINVAR:3768410 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b546f545-9717-4055-aae0-1ba656c5cc92 CLINVAR:2840670 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6cbac81-92de-4bfe-9c25-638381d186c3 CLINVAR:2840670 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca18821b-279e-4713-9e71-29f1df4b2854 CLINVAR:2840670 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 75d58eaf-8d4a-492c-8335-a4b3dd1935f3 CLINVAR:14466 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68e9720e-3d32-4543-ab6e-801acb4fa744 CLINVAR:14466 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bcfa65b9-0a1b-457e-aa56-6186cb21a293 CLINVAR:14466 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel da4bfa00-55f6-4177-928f-6af93835ecbf CLINVAR:642956 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b322ef98-3b4b-4771-acb9-f851fb0282ad CLINVAR:642956 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06774ffd-33b5-480e-83b4-75cd6528a928 CLINVAR:642956 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff379908-030c-41a4-8a6c-ee385e7994d2 CLINVAR:988808 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adf346e5-7f69-4725-b141-932a5eaba5e3 CLINVAR:988808 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5bec7eb6-3014-441b-860c-e00d7bc91b5b CLINVAR:988808 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8e306c01-101c-4667-b130-a0a61e70ff0f CLINVAR:561244 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 804258a0-6665-4339-92ef-8a1cdeb415c9 CLINVAR:561244 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71bf3d2e-e789-4629-84e1-af7783a3520c CLINVAR:561244 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 67795861-f72e-4fdd-8505-7b915a47165b CLINVAR:1299484 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9cfd4d32-5160-4393-80fc-5667d9cfc537 CLINVAR:1299484 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 874c3654-13d2-46c8-a3b3-ffcb88e4ad4f CLINVAR:1299484 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9fc3e14c-e9f4-4d8c-b859-038d588942be CLINVAR:812739 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7d89f8fe-ad0f-48ac-9878-1de2b90d0768 CLINVAR:812739 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 31c0bc8b-8a36-4d4c-bd1c-dd9039cea5b9 CLINVAR:812739 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a7ce3d6-9062-4eee-9a57-63dc6f490f5c CLINVAR:869207 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cb4dcb1-fab1-4d8d-aec6-f353cd342a43 CLINVAR:869207 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e864a6ca-1061-44f2-bc30-2a62466f633f CLINVAR:869207 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2da35b77-b68b-4c85-9531-905414a5957a CLINVAR:1996224 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97a1a663-d3d4-42ca-af99-bab1528c2c5b CLINVAR:1996224 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dca44285-db2c-47bd-82d2-cb97606c438b CLINVAR:1996224 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 825a0580-cb28-4bd3-8037-c5a74590c6da CLINVAR:1363605 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 874c2380-b30f-41a9-ac05-e19a1c3d199e CLINVAR:1363605 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1432fe20-64ec-4e6e-83ad-baa3cc5e6fc2 CLINVAR:1363605 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 890edcac-68c6-44a7-a3a5-9fa2379721ff CLINVAR:3367214 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b5fd4aee-855e-43da-a3be-877888984e00 CLINVAR:3367214 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6580c7af-e50c-458c-806c-a0ca3fcba411 CLINVAR:3367214 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ff6c3375-aef8-4289-ade4-f531e42c1ca5 CLINVAR:627081 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff1fa200-a3ab-4bc3-a6d6-1ca4f39622af CLINVAR:627081 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4f06115-ba03-4235-8fa8-3ebcf02b1d8f CLINVAR:627081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 09875ac1-207f-48ed-9998-c102b8e77aea CLINVAR:561243 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d4614de-b4a1-4bfc-b3c7-38c81a086d5d CLINVAR:561243 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cd1034c-b3c5-4849-a53f-69665e0c1610 CLINVAR:561243 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 02834de4-5517-4a4c-acd6-78b7abc1c9b5 CLINVAR:561242 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 117eab11-78f4-46b7-86fd-262b3625028f CLINVAR:561242 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e70107d7-7833-4bdf-9024-cd92539525ad CLINVAR:561242 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f70467b5-6f50-48db-8445-21bced94a459 CLINVAR:3587669 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c87c52c-07bc-4b4d-bb2e-2971a3d9969c CLINVAR:3587669 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adc82b7d-795d-41f8-a90d-2166578f1fca CLINVAR:3587669 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c17e3019-2075-4a3a-be76-933125b797a4 CLINVAR:417961 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a7f90779-bebf-4dcc-8f30-f6e7c7db402d CLINVAR:417961 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de0ef6aa-ebee-47f0-94af-de847c064a8c CLINVAR:417961 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01d29170-e6fa-40f0-91ba-932c0c1af79b CLINVAR:1459069 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ba8e029-70aa-41bd-ab34-6fbe4f79750f CLINVAR:1459069 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e55c57e-bcfd-4b55-83f2-ce2e79a3de7b CLINVAR:1459069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48615e26-7bf7-4e07-8c79-372388626ce2 CLINVAR:1704949 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bed08508-b92a-46dd-8306-bab0c842adb1 CLINVAR:1704949 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 188a44f6-b823-42b4-8dac-5339dc2b1996 CLINVAR:1704949 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7e894a98-dab7-459f-8190-2ecfbb3bd475 CLINVAR:376019 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42809823-df14-4d29-9117-b51366899498 CLINVAR:376019 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6161a561-3e8a-4d5e-8a4a-b30995ef5b27 CLINVAR:376019 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b9787b43-3f86-4406-b40b-665ca0fe0358 CLINVAR:376020 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1f54ddd-61e6-4662-8dad-1feec51a73d3 CLINVAR:376020 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00859265-ce74-4cdf-b3d1-51ad85e0b130 CLINVAR:376020 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0fb4a0db-3aff-497b-9a8e-95a66f74c80f CLINVAR:3656666 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e5831fa-12b6-483e-a795-16f78162430b CLINVAR:3656666 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7b3778f-d0e5-4a77-a4c6-02557788412a CLINVAR:3656666 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 655f19e8-f374-468a-9ff6-93dc35126716 CLINVAR:376021 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a674fcc4-ee13-4e4e-b007-4b1581417b58 CLINVAR:376021 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ed8e071-a40b-4b89-9bc5-cbfe7e31362b CLINVAR:376021 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e465407c-c951-450f-a7fd-d5a4659dc5cf CLINVAR:376022 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af5dfe19-4c2e-4e50-8a95-bc506664fc9f CLINVAR:376022 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95c0e6a9-6abe-426a-a998-b41244bab295 CLINVAR:376022 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 79a205bf-e8c1-457a-b01d-4753ae763a67 CLINVAR:14471 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a37866e-b26d-4923-9cb8-32042db3b5a1 CLINVAR:14471 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bea2951-af9f-4a75-bac8-3fd42f3f9039 CLINVAR:14471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 38609082-41e8-417f-a144-affd1ed252b7 CLINVAR:2852907 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5fd7908-3c76-4e87-9eed-fd7ddeaa3f84 CLINVAR:2852907 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f51c41c6-b668-41cb-a060-91ab2bd2e350 CLINVAR:2852907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b11cd4ad-eacd-4db7-92da-83299b1ea1a3 CLINVAR:14470 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0dcebd6-043d-4360-988e-437a0430d882 CLINVAR:14470 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fced174-e903-4b62-ac76-65e1c0ef196f CLINVAR:14470 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ce3d78d7-bd1e-46ef-9dc7-30e3ba65a0cf CLINVAR:3662819 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0db97033-caf5-4ace-98b9-ee241973a3a1 CLINVAR:3662819 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe7a0b0f-0a18-480f-8cb3-705498e64cda CLINVAR:3662819 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 742989f7-194b-4087-b63c-42d6e5f86395 CLINVAR:561238 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04a6ab5b-ebf9-4b25-88ef-66869fe145f6 CLINVAR:561238 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66c70f8b-ff20-4da5-b00e-14476a809226 CLINVAR:561238 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cafee43f-929b-4798-82a9-049362fd202c CLINVAR:2759299 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99b5ad32-84b3-4975-b4f7-e5a5142ecb21 CLINVAR:2759299 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80700aa9-1cac-461d-9b35-3e6297dead46 CLINVAR:2759299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b8430b5-c6ad-4bbb-85ae-e5664bb265d9 CLINVAR:3255398 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 838341df-95cd-421b-a238-82fde9468353 CLINVAR:3255398 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4dea4284-b631-4c3d-884e-9256b0c07b7e CLINVAR:3255398 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91b112cd-d190-4139-a4ea-68ba4f41771b CLINVAR:2029556 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55cb7b3f-f0dc-41ba-8f22-57f61e03e0a9 CLINVAR:2029556 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d8d9a197-725e-44fa-affd-a5d38dca31b6 CLINVAR:2029556 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cdf90b2e-3cc9-4dcf-aecf-6ae310318e66 CLINVAR:3255397 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5c166d2-9988-468b-879c-21e81c0d6961 CLINVAR:3255397 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ccaad85-5124-46c9-95e7-ea8886dea0c2 CLINVAR:3255397 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89f43aff-538e-4e8d-a460-7049b056b66b CLINVAR:2112037 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a6b41d1-f1c0-4a00-a56a-6242e08ef6cc CLINVAR:2112037 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24d56c07-b372-4678-9a7d-2b0230d54b50 CLINVAR:2112037 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ada73634-b373-4646-b792-8af9e3e8c728 CLINVAR:2820865 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 055821d0-f4d1-4578-b57a-2cfc517464c8 CLINVAR:2820865 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4f6960f-e968-4590-a287-faac9299e523 CLINVAR:2820865 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a669ba0d-b10a-44d8-8e7f-3324f8517196 CLINVAR:3663825 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e04576f6-de9f-4bc9-8ef0-22a3f4c4e205 CLINVAR:3663825 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7ed54ae-fc22-4929-a45b-d0f68f8a6249 CLINVAR:3663825 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 105465f6-5deb-46f2-aa1a-4273f579f6a1 CLINVAR:1484777 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abaa9584-e53a-495c-9a4c-87cb8d9fca78 CLINVAR:1484777 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f61980ef-54ea-49be-b574-3e8eaa0641c7 CLINVAR:1484777 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e93bb772-c6c7-40e6-98d6-3ce04a5d607b CLINVAR:14468 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be1147da-2b4c-4e47-a9e6-dbc49340ce54 CLINVAR:14468 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0246761e-42f5-4171-a6e3-b5f293a0313e CLINVAR:14468 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f349f76e-2037-420b-b552-95b36daec449 CLINVAR:3772099 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6e446272-b079-4816-87ff-561e6e744db3 CLINVAR:3772099 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 492bbf47-3a26-49af-9350-2dea28ff13cb CLINVAR:3772099 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ae0b8c31-59d0-4aae-8c7f-0cf659c6bc5f CLINVAR:2092471 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74c14a47-6e93-4fb2-8d88-83e2a964c0a0 CLINVAR:2092471 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3144b74a-5abf-4555-b2ed-fa674945832b CLINVAR:2092471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 37e8b360-d887-4105-82b8-7e65747d1649 CLINVAR:2024194 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02c30ed5-c8d3-4676-b02c-ace0c7a08a6b CLINVAR:2024194 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dec97d61-da1d-482f-87da-7c1bb8b18041 CLINVAR:2024194 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b70c68d2-8b60-4c3e-b4eb-874d8e3e4334 CLINVAR:2501756 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88591169-3f43-46c4-bc66-6946e0c75aac CLINVAR:2501756 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 438a3596-84b1-4a04-a2e3-ec2b207a67f4 CLINVAR:2501756 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68f3e5a0-120c-46f4-a891-64c36d9b6a2f CLINVAR:3342643 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10390059-847d-421a-8ba8-5efa79ed9459 CLINVAR:3342643 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6a596a2-37e4-4177-8633-cbe507acd6c4 CLINVAR:3342643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf8eadb1-0ed5-4f49-9c92-2a998f0f3ad8 CLINVAR:2746077 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33aaf46e-cd83-43a5-8ac8-7d101a5066e0 CLINVAR:2746077 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e202af27-ce60-4820-92d5-d180a2abd332 CLINVAR:2746077 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5df92c4f-f105-44c1-9759-9f367e9ba7c2 CLINVAR:14463 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db9b266d-fbc3-4b99-b14b-42882e82d6de CLINVAR:14463 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf172071-ccaa-4faf-ac16-0fad8fd74ed2 CLINVAR:14463 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa3dc534-0abd-49d3-b565-34cdc0346127 CLINVAR:436616 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04bdaddb-0549-4414-a2f8-e1921463bfd6 CLINVAR:436616 biolink:is_sequence_variant_of NCBIGene:124905014 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d51d9ded-7024-4ef4-8ac9-cfcf644ad09e CLINVAR:436616 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e8b9fc9a-21fe-4b5f-a365-10fe9f812d77 CLINVAR:2435494 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e10cb753-022d-4cd5-ac49-9397ff42712c CLINVAR:2435494 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7125d11c-da3b-41b4-a4ec-7acf8a531be0 CLINVAR:2911507 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5585998d-02bc-40c8-b893-3f9968f7c340 CLINVAR:2911507 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a737b3af-8f58-4e7a-b662-7ec34067175f CLINVAR:943551 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 99b0622f-ac96-4fe0-a707-a4c7036d813d CLINVAR:943551 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dcce6f5d-1e09-459d-b12f-23f6dcef829b CLINVAR:988837 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f98bc65-2a46-477b-b1de-5c7c4299dc4b CLINVAR:988837 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 476f5a80-7631-495a-b054-3bf953cbe4a0 CLINVAR:409822 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b992b21-62ee-43a3-8d32-3286a5319e29 CLINVAR:409822 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aedeced2-f137-40b7-b279-1bd6be3854f4 CLINVAR:561236 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fccf340c-8f59-460e-9043-b0cdf0e349c6 CLINVAR:561236 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5e66ed24-da48-45c7-9c46-bfc48c6e641f CLINVAR:3255393 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b8aa82f-6ba7-481f-90a1-b4247e7ea7b3 CLINVAR:3255393 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac0db42d-e33b-4374-acf5-e4b9c31474f0 CLINVAR:561235 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4bbc251-d401-4cae-be0c-53b91054c8da CLINVAR:561235 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1e850aa2-f439-46ea-b928-7319e1cff490 CLINVAR:2750881 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3da08eb2-596e-4842-ba81-8ae22412678e CLINVAR:2750881 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c1709839-88b5-45c5-b4db-762d162bcd6c CLINVAR:869209 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edcde922-b0bb-4f7e-b76a-30e2c2ba652c CLINVAR:869209 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0088de5-b566-409e-99b6-b313f7c08381 CLINVAR:1518631 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ed7de81-b4b6-4b2d-bbe5-c9ed7293373c CLINVAR:1518631 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4db5a767-f86a-45c8-8b9c-ae7d1b46031f CLINVAR:561234 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b10b0f3-5b28-4461-82ce-93b33dfd8db8 CLINVAR:561234 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e3de3e3e-b169-41d4-8b06-d51bc4890fff CLINVAR:3367906 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 86a31f26-ddcd-4e3d-9f32-5c89c99eb3b8 CLINVAR:3367906 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 79e035aa-2f32-4f3c-8e01-30f0522c8d0a CLINVAR:14465 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4da79d11-4204-4df1-a2fd-d7d73e68a24e CLINVAR:14465 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee87e7de-0c03-4d80-bdf2-45e6e87b24e9 CLINVAR:812740 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc2a8031-8642-4c5b-a044-0c4b2ed6ee60 CLINVAR:812740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0bd03b7f-c74a-4ca6-aeaa-1f13435a77c8 CLINVAR:1338536 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a61c335c-7052-4abb-b70b-69c68bdf566c CLINVAR:1338536 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ba179602-d061-47ea-907c-d195fef27202 CLINVAR:2844927 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a626f34b-1624-4a29-9326-381e62c55444 CLINVAR:2844927 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fdb98eb5-c42c-4648-951c-1b08a813d06b CLINVAR:2854758 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 984fa11c-af39-4dc4-a067-926e019331c6 CLINVAR:2854758 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3cdd149d-7737-49f3-91d4-e160caecc91b CLINVAR:988835 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62eb277d-652d-4ba7-8eda-617ac922fece CLINVAR:988835 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0d69b84-63d4-49a4-9b02-f2a6d4a81bf1 CLINVAR:1045299 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6968d396-4e29-4b64-ad2f-f1f1ca2a13ca CLINVAR:1045299 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0956b4a5-3a42-4d8c-979d-1c4b760c699a CLINVAR:436617 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 454755c3-42b9-4949-b8c0-9cc9012201c3 CLINVAR:436617 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8be8d601-dddd-4419-b0be-73ff4adf9523 CLINVAR:666274 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8e261d6-132f-433f-9e5f-b25e6092b07b CLINVAR:666274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bbe427ce-b1b3-4729-8202-dbc7317f869b CLINVAR:561233 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 718f560a-c54c-4208-89b6-547e3206d706 CLINVAR:561233 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9c99f8f3-3613-4f5c-86d8-3675d1289626 CLINVAR:2635335 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b88a587-b874-4e54-829e-da7895cf46f3 CLINVAR:2635335 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ea43510-2e9c-4511-b678-421edd4d721b CLINVAR:647118 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 258925fc-fd42-44b4-b5fb-339cea1d2317 CLINVAR:647118 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4e81ed4e-73ca-48f1-9584-76f240760da9 CLINVAR:561231 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e80c166-3a1e-4796-acd7-e44986878b9c CLINVAR:561231 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e65b8066-c535-4691-8b8f-69e699fbffa4 CLINVAR:1897839 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52d1cf64-bfa0-43bc-8a38-8c272625a137 CLINVAR:1897839 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f441a281-6f68-4e21-9826-a14f8056b528 CLINVAR:389962 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a3478ee9-f70f-4be8-a306-ab1cbd6a4227 CLINVAR:389962 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 41270b59-e15a-4d72-88ef-8a6bb5086554 CLINVAR:3638768 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c826a8a5-34ed-425b-b4f3-86158334740e CLINVAR:3638768 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d957cf66-b99d-4e73-ba34-d49b161f1370 CLINVAR:988416 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 92d41332-4b1f-4d80-93f0-e5f3cd002b50 CLINVAR:988416 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f500ad0-4fcb-4d75-9303-aa21ad4d3a66 CLINVAR:1695383 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 84570b22-e95e-4528-9434-0044d1168710 CLINVAR:1695383 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 304d26fd-5adb-4680-b417-79d5fd83b629 CLINVAR:1692643 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fabc9b0f-6b07-4494-b224-05668a750082 CLINVAR:1692643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3919d203-9a6e-4f22-bf88-eb87d5d821e3 CLINVAR:3791511 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar be20b219-9308-4296-9862-af9dd1ce46f3 CLINVAR:3791511 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bc5c0244-3dfe-4a82-8d23-0ed27fbdc775 CLINVAR:1073521 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar caf023ee-6029-4daa-a27f-df236e4fbb97 CLINVAR:1073521 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b7682dce-f6cb-4757-8e64-a7c9fecdbc33 CLINVAR:1073907 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97945857-0b10-4f97-a27f-898e3c524485 CLINVAR:1073907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24d8d924-d605-4b27-be9f-cadfcbe82191 CLINVAR:561230 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2819b78e-0c65-485f-999b-f3a044755c7a CLINVAR:561230 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a51f8610-8e69-4566-ad56-62d68f6699e0 CLINVAR:2757098 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aec5d610-7472-4fcf-9e0c-e80429b3921f CLINVAR:2757098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c89a1e40-7645-4aa6-b26c-01e54bbe167c CLINVAR:561229 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3eee2c4f-e449-4c08-bced-e92f3fda581d CLINVAR:561229 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10559714-3604-4e88-869b-3b7a70f3095e CLINVAR:3775902 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e610522-fce8-400d-9eb6-434f2bc73446 CLINVAR:3775902 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0d684e8-e520-40dc-87fc-acce2aad710e CLINVAR:463988 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3dfa1890-580d-4d88-8d6e-32a48f31f37c CLINVAR:463988 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f9c358b-1165-4ba3-9732-3c567057f812 CLINVAR:978818 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c717ce5-799a-4b2e-a1b6-1d8db0218e7a CLINVAR:978818 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 615dcdca-f8ca-4524-be3e-26b5f3cdb9af CLINVAR:571388 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d373b7b1-dce5-4454-8de1-c9f1b6457f99 CLINVAR:571388 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0f81e37-ffe4-4ed8-824a-307a1c3584ad CLINVAR:3653535 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a25483a4-edd4-42b0-a9d1-936bbeefeb97 CLINVAR:3653535 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b54701c6-6b4c-48f2-94dd-a9c1bc15543b CLINVAR:2632141 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1742259-f8b1-459a-aa69-9b7074af0159 CLINVAR:2632141 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d16ccf39-5eb6-435b-85f2-5abdd462091e CLINVAR:1013619 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca21b0d3-7e76-4c6e-af8f-e93100fda322 CLINVAR:1013619 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4fe2440-472d-4cef-a49f-c114edf44ca1 CLINVAR:561228 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 48c1ed63-695d-4a43-9672-277c63a13b20 CLINVAR:561228 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3dbc11c3-42f0-4eb1-8316-533d0a9a3360 CLINVAR:1076589 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2b31848-6f84-4eb2-aa99-90c5688cde97 CLINVAR:1076589 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 229cbbd4-7446-485f-98db-2c4c77aaf771 CLINVAR:1069299 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ada812c2-b022-4594-93a3-746c55cbb1c7 CLINVAR:1069299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 247f8189-e29b-4299-a5a2-bfb699d1195d CLINVAR:2101398 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f26a8d7-66fe-45a5-b892-bab7b408f722 CLINVAR:2101398 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9995e2e9-4883-421c-a215-9d90ee796663 CLINVAR:2705087 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdfa8a3c-b903-49a0-9f98-34c0c8a7c179 CLINVAR:2705087 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9558479-4955-4bbe-9918-ba79366dc74e CLINVAR:2011850 biolink:is_sequence_variant_of NCBIGene:861 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c3a68f2-9702-461a-a490-63816c3fe0e7 CLINVAR:2011850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ee1d3a3e-d0d2-4995-9a93-32870a4a7a7c CLINVAR:1691253 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 095471ef-b6b8-4d85-9c5a-6661e2586048 CLINVAR:1691253 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a69c6df7-e831-4932-84a3-57a4250eb8a9 CLINVAR:1691253 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d2d23013-821f-4dbe-9672-74aade4d924f CLINVAR:627320 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba95832b-b5ef-4039-84d4-56890f399a2c CLINVAR:627320 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3fa38ec-33b4-4114-875d-72f6e47ed959 CLINVAR:627320 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 184f112d-283a-4246-9cd7-f72200f7ce57 CLINVAR:4849245 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b015ba65-0b31-4edd-a1d0-09f9bc70bce8 CLINVAR:4849245 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e787f1cc-a6ba-4bfa-9ca4-b6f325845a04 CLINVAR:4849245 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e1c36a58-4eb4-474d-adf4-9eabfdc40558 CLINVAR:4849246 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ccbb6d2-c75a-45a9-97e3-52bb8c51146f CLINVAR:4849246 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ce081c1-7355-426b-bbd7-990f293fd4b5 CLINVAR:4849246 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e5da2c99-5825-4c30-98db-f5ae953b82e8 CLINVAR:16040 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 34a24611-c144-4953-8213-ce9dab60971f CLINVAR:16040 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e025a4a-b2b1-4815-bca7-9f684387062c CLINVAR:16040 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9cbaa198-9fa8-4efa-bf15-e948d824a3cf CLINVAR:627039 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4a01a37-8d5b-44cd-9fd9-72fb23bfd60f CLINVAR:627039 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 962110a8-1473-4618-8746-f83e4ac69d4e CLINVAR:627039 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fad4e30e-498f-4dff-a3fb-4c21ddbafb9f CLINVAR:4849247 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 165c28c0-37ba-452d-bfe4-281304ebf1f3 CLINVAR:4849247 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 819a7997-2bd1-4653-b627-8fccfb4460ea CLINVAR:4849247 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b4f8e3ad-1912-4bd8-bef7-5dcc242dfba0 CLINVAR:4849248 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5731342-c82d-4e23-b33b-40c25eef2d80 CLINVAR:4849248 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10ead4fb-c0d6-478e-bc56-e772d3b8f6cc CLINVAR:4849248 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 229d7ad7-cad4-4fdf-a9c6-5c14333d1d03 CLINVAR:1691254 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e61fbd2a-1dcc-4c64-8dca-0a19f91aed7c CLINVAR:1691254 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ddae0cd-417c-454b-8c02-2ad5d45b1b29 CLINVAR:1691254 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel feeee036-4024-4320-9426-c2f1e480b2f1 CLINVAR:3775056 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3a7a0fe-b33c-4bfb-94ec-e6cced3e826c CLINVAR:3775056 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 44e42480-28c9-4734-b5ff-335930642856 CLINVAR:3775056 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0d647217-2ddd-4fde-a3e5-ac45ca07ec82 CLINVAR:4849251 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4464dc0-87d5-4d97-9f40-a80d1ab61d95 CLINVAR:4849251 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 77aadf65-8174-43ee-a345-efe3d40ab539 CLINVAR:4849251 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ae4dc85e-a8f9-4f17-aec1-2558ec2909b1 CLINVAR:3380918 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d6df8bb-7e62-4dbf-a313-4269df69e375 CLINVAR:3380918 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a1ae043-8819-43ab-8c49-fd51d344d638 CLINVAR:3380918 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c3d52816-55c4-45ba-ac99-233ecf64ea4a CLINVAR:16038 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d85cf8ee-9968-4a2d-ae10-629eff7d2f90 CLINVAR:16038 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e3904568-e30d-4409-b73e-d064640ca326 CLINVAR:16038 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 801c4e01-a188-47a1-9462-813d246b031a CLINVAR:1679210 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f5fd080-07e4-4752-8067-de603b50a544 CLINVAR:1679210 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a15dfb3d-9279-42d6-9a80-9e54b790d998 CLINVAR:1679210 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f3cadd7a-fbf8-4fab-862e-5242af6eeebd CLINVAR:1324499 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6de8f5a2-ee90-4475-8a08-ee4f5a66955a CLINVAR:1324499 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30e64ddd-3a77-4f98-8d38-e1475ad0aca2 CLINVAR:1324499 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2830bf75-667d-484f-b792-c6a21d7dec4f CLINVAR:3775055 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cff350bd-b85b-429e-804f-7ca8c983c338 CLINVAR:3775055 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f6a1036-7cdf-4c76-82ca-65306a9a782b CLINVAR:3775055 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0e4521bc-a6b2-4748-b112-3c839b6fc287 CLINVAR:627075 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar df75d8c7-1848-4d58-8b34-f966ccd4536a CLINVAR:627075 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 633cd5d2-e76a-446d-9af7-c4f73d4a9699 CLINVAR:627075 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1dfbb5dd-ae32-4b12-ba09-99e086654496 CLINVAR:1691232 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47e08089-a41d-4662-8acf-3026d8dd9eda CLINVAR:1691232 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ac20add-298d-4f80-b096-1e302b44a727 CLINVAR:1691232 biolink:causes MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01403a77-0955-4d6d-95f5-d86b6a755da9 CLINVAR:4849250 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c14eff50-4b09-4ec1-8cfe-2fd2c3078be9 CLINVAR:4849250 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6d72b42-5226-447c-96c0-028700e6d6e7 CLINVAR:4849250 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel afae27b0-cdf5-44a3-bbf6-579a9679a662 CLINVAR:1703859 biolink:is_sequence_variant_of NCBIGene:2812 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 912f4f60-1c26-4136-84da-fb163c4761da CLINVAR:1703859 biolink:is_sequence_variant_of NCBIGene:100526833 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c25015e-bd9c-4d96-af27-e1c84a056f0b CLINVAR:1703859 biolink:associated_with_increased_likelihood_of MONDO:0009276 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a7e8752e-d531-4a09-81d1-5539bb7822c4 CLINVAR:372684 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a1e48c13-327e-493d-a7ff-5bd46e6c0abb CLINVAR:372684 biolink:is_sequence_variant_of NCBIGene:130067016 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2317236-682b-404d-bd43-414fd61acb8b CLINVAR:372684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6685b591-1c4f-4c0a-b593-29c9a82ea451 CLINVAR:1066305 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2034a817-164f-42cc-afd6-955315e33d9c CLINVAR:1066305 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4cde4ae3-5216-4a47-ba22-4af34be252ee CLINVAR:209088 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 94a33f2b-4acb-42d1-8035-c54413ed6865 CLINVAR:209088 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 048105b1-4a1c-4169-b3c9-4b4c356a22ae CLINVAR:561683 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c0ab95c-f213-44d9-b5c1-ba5b26755fd5 CLINVAR:561683 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d8689cd6-a002-4213-9e01-610521394280 CLINVAR:561716 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ca768a5-7d5c-40fd-b666-fdaf581cd3e5 CLINVAR:561716 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 914de0ed-5cdc-4cf1-b1a6-3230c2379510 CLINVAR:209089 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f9258694-65d5-4eec-8c49-a6a6f414bbec CLINVAR:209089 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 82daf320-5c00-496d-9027-b17bb915e51c CLINVAR:973830 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db695baf-3446-4d21-b493-928a0d42af13 CLINVAR:973830 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b5b6dd1-e6e8-4d47-b487-00d3b9492dbd CLINVAR:523986 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b792531e-849e-4323-a173-d246d8ea07d2 CLINVAR:523986 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 02bff9b2-09de-447a-b66e-55ad2fc0227e CLINVAR:289969 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac54d15f-414c-4c5d-a863-45f0ba9851dd CLINVAR:289969 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0c988544-8ce8-47b7-9e36-7c1542bcd27c CLINVAR:451722 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aebe9e79-c7b8-42a1-a1e2-c219ac7f02d9 CLINVAR:451722 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 632297ec-9a3a-4111-b742-beb2d3b02992 CLINVAR:2078744 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32728475-eb11-4bd1-8b08-bdba5dda331d CLINVAR:2078744 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4caa05eb-bb74-4fe8-a8cd-efa38a78151b CLINVAR:373089 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30f1ac1e-2e27-45a0-813a-50668a9d2d33 CLINVAR:373089 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1df4f2ca-426b-478f-aa7a-5aa4907d120d CLINVAR:522800 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4cbaf93e-a2f1-4ed6-89f2-6b725be36378 CLINVAR:522800 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 506b3b70-f4fb-4518-b337-980cc0de3801 CLINVAR:522799 biolink:is_sequence_variant_of NCBIGene:8216 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3393a532-8cb3-4f6c-8d33-fdcdee8053f6 CLINVAR:522799 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef0de1a2-b1ae-4e8b-a365-f55d0979ab6b CLINVAR:929426 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e57b704-c177-4074-b4cb-b4a96a0286f7 CLINVAR:929426 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ee040819-cdfe-4d24-a80e-0c8507ac644b CLINVAR:918032 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ca932eb-f53e-4336-be1d-13475708d56a CLINVAR:918032 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07b113ad-5b08-4a6d-b4ef-47feb2dae89b CLINVAR:803714 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05feb6d9-9f1e-4cfa-a8f7-5790f9c35248 CLINVAR:803714 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c586a6dc-cc42-41cd-adfd-4ef329381e0a CLINVAR:11502 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1c049c50-0e88-4f2d-933c-514f4729120d CLINVAR:11502 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63e97711-6356-493c-bd7d-e4fdfdc94111 CLINVAR:158179 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e68b4a20-f0f3-4e18-9a64-aa507f0964c4 CLINVAR:158179 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2df8825a-e20c-462b-9a73-81a13e8066a3 CLINVAR:11503 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 520c573f-51db-4f38-9d84-0630cf84e311 CLINVAR:11503 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6a30d32-a3fe-4020-aed1-3503e03dca0f CLINVAR:156592 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0acf0b82-e205-49f8-8d65-8bd32b6434db CLINVAR:156592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9719713-1514-4d5d-b0dd-a626c213e46f CLINVAR:870171 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9df20a9-1408-4576-b2f6-4466fa35ebda CLINVAR:870171 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ebef6880-44cc-423b-a86c-6d67acafde57 CLINVAR:156596 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d194052-2e11-4a9f-8ea3-5dc807ee9e39 CLINVAR:156596 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0dd4ae8-c468-4a67-8c7a-e577d8bd151a CLINVAR:2105592 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 956592f8-fb8f-4f6e-85bc-fb5f23e432bf CLINVAR:2105592 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af3a1614-359a-4c16-b413-ca2cbf27b69f CLINVAR:658951 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d855db62-384b-4c2b-939b-46f472d60e63 CLINVAR:658951 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 69a30c50-c6bb-44c4-b343-57e2d2025c64 CLINVAR:1387019 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 371fe360-c91c-4022-b1c0-780f27e3aa4a CLINVAR:1387019 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 40164d13-aa44-4ef1-acb5-483e495ef08a CLINVAR:217360 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e13376a4-b474-498c-ba61-8755668485ae CLINVAR:217360 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0439b226-9474-45a1-8b5e-65f4f405730c CLINVAR:143822 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4c33eb9a-a0de-48c6-b173-d9e6299afcda CLINVAR:143822 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c485ed0-c283-4525-b7de-72d3ea666c28 CLINVAR:94113 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d4b0499-ef13-410a-af94-9710eb55f6a0 CLINVAR:94113 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc53e32f-64da-4229-91a1-fc6729595462 CLINVAR:1700386 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2b9831e6-45c7-4a1d-b489-34187975ee72 CLINVAR:1700386 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b5566268-46f7-495d-a6fb-bbc8e1c7a6e5 CLINVAR:143826 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a26fe0af-064d-48c9-be7a-a782a92b0dbd CLINVAR:143826 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f4a4defa-66d9-438a-8c90-4c272625da7a CLINVAR:2419189 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a5b10c8-bd4c-4dde-914e-821a0ef0b0fd CLINVAR:2419189 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8d5915f0-a6c1-464c-887b-588339eaa4e4 CLINVAR:189549 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar daf16d06-a8e2-49a9-8635-0e1923f4b7f3 CLINVAR:189549 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8b434e53-f601-41d4-833e-9b3d77cedcd1 CLINVAR:1879751 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 320a71bd-f464-479f-8c02-62583ba46953 CLINVAR:1879751 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel afb7c08f-f60a-4eb5-8bb5-a8efa5506585 CLINVAR:423029 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea4d7de7-b4a6-4f30-84ac-ffa8b1f5d441 CLINVAR:423029 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8dfa3d3f-24de-4595-b6f4-3cb0bfa12874 CLINVAR:189554 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6cb59e5-fbd3-4ca5-933f-3a01ad8a8f26 CLINVAR:189554 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fa9ad72b-5e84-4f33-b750-63687eaccd5e CLINVAR:143774 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09980515-78d3-4bc3-9688-7b6ce98f7c93 CLINVAR:143774 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2523ad54-abc7-4ebc-b4f6-ae3a6bc9c930 CLINVAR:286706 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa25a8ac-9248-4582-9689-8a3b00143f4f CLINVAR:286706 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 21b8052a-53f7-4329-8050-dc181b035238 CLINVAR:143796 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5471a840-bdfa-44a5-8bd4-433dccd9e582 CLINVAR:143796 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b50c12b2-4a53-4095-8881-ccfac3962e9d CLINVAR:11500 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24dce5ab-2663-4d90-824b-bb71c0a1110b CLINVAR:11500 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0eb6af15-8df2-46a0-86bb-91044cec4a49 CLINVAR:643438 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fe7fec80-c049-4037-a115-ce291fc1f9ed CLINVAR:643438 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b09340d0-a92d-482f-baf5-f85efb14c556 CLINVAR:489299 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e71934e1-2fda-4e7f-a69f-d9ae5ef4aa1e CLINVAR:489299 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 270ba1e9-6f5e-4523-a7ac-48e3289daaa0 CLINVAR:4279587 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e6a90c9-20c1-41a0-ae92-a838ad7fdb71 CLINVAR:4279587 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ea96c62-f353-4b80-b450-bffc90d4b3f6 CLINVAR:4279587 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ae5613b9-ee13-46c5-8069-7b7fb8a94236 CLINVAR:4279584 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 976b70d4-f6a8-4651-a351-1de4b0baee5d CLINVAR:4279584 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 019cc0b7-c0bd-46d2-992c-25383b16281c CLINVAR:4279584 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 87b99b7e-4a14-4216-89de-ebcf04e547bb CLINVAR:4279585 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e813f9b1-00cf-4514-8940-432b50de3577 CLINVAR:4279585 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7bbf027-88f8-4f5b-b1b4-52318f77f4cf CLINVAR:4279585 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 57202a27-42ec-4f35-82de-a6453049c6b0 CLINVAR:372497 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78987c3b-90fd-47de-8c33-cde4925ec170 CLINVAR:372497 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7c0a01c7-f8a0-4cce-90b3-67ec389f04b6 CLINVAR:372497 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d1e53c30-db07-4f2a-8064-15e326620cce CLINVAR:1511265 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 120cdf43-37ea-44be-8081-7b46dbaf080e CLINVAR:1511265 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fa91fe39-46fc-4254-a0d0-e0df63de219d CLINVAR:1511265 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 505195cd-21eb-42c6-8c74-07a95d1fffe3 CLINVAR:9893 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 22c9c395-f3e9-408d-94c9-a6568d8f47d4 CLINVAR:9893 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d01cea0-98dc-42ce-99e8-d5e36e34d59d CLINVAR:9893 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b658209f-3d12-4a67-aee5-1c2d958693ee CLINVAR:4279586 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 98bc99c6-8106-40fc-b604-d1853dfac118 CLINVAR:4279586 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e3cd89c-7e9b-4b03-a399-9abf1c967fd4 CLINVAR:4279586 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0eca05ff-142c-4fb1-90cf-a8c44e20fcfa CLINVAR:1700721 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bed768d9-58f0-4b6c-82e6-6518c80e2204 CLINVAR:1700721 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd11ddfb-be34-4961-9e2f-59c060c464e4 CLINVAR:1700721 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ec55add4-f89a-45c8-ad50-e6d78719c3e2 CLINVAR:99016 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bf01a6b3-8c79-4a40-bb4a-99dc4efe4f6b CLINVAR:99016 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5109571-d22c-4f9c-aec2-4cc1e94df19c CLINVAR:99016 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d7d48ea3-0fde-448d-9897-9a07fbbfcbbf CLINVAR:99015 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37479601-2e26-4ea8-9cd2-35df74bcfd17 CLINVAR:99015 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a54e2169-82ac-4d91-b052-35289b433b1a CLINVAR:99015 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4cba18fc-42a4-4d21-870f-bc59315a8304 CLINVAR:99014 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b727b168-8576-4aea-9ed8-823a0e5862a7 CLINVAR:99014 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f85deee-0b99-48b4-8248-ef8caf2344ba CLINVAR:99014 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel efeccbe4-f1b1-495a-8f23-883e23ff9418 CLINVAR:98996 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bff449f-1ea6-401f-beb5-18e0cf9d40a9 CLINVAR:98996 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1783f233-c674-41d1-81c3-b91a7beadf8b CLINVAR:98996 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 89918400-ae31-4af8-ac34-2a2684ddcb4c CLINVAR:4279580 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41937e60-200a-4a1b-ad96-863154392a7c CLINVAR:4279580 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6aab4f1c-1f48-4090-9f49-e0664be60e5c CLINVAR:4279580 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 933cc205-5d26-4556-bfc2-0729078d15a4 CLINVAR:98986 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar db360b3c-380b-4332-93a9-36760f70932e CLINVAR:98986 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 473a6dbe-ec5f-4867-90d1-4eabcb778d34 CLINVAR:98986 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 33330b77-89b2-4ed1-ad5c-23f8acf671d9 CLINVAR:4279573 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e457e05f-8ada-4702-9dfe-fbc7aedc14ed CLINVAR:4279573 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0e8251c-7723-42ae-86fd-c28a6059c230 CLINVAR:4279573 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4d8df9dc-560b-4b1b-a33a-83f9ca03b531 CLINVAR:3899909 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 909236d8-26a1-4ab3-b091-1844eece2f49 CLINVAR:3899909 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f44fddd6-cdcf-4828-aee6-c7b8d14fe05d CLINVAR:3899909 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a39aff2e-ed82-4bef-a7da-f98a0a2f74ea CLINVAR:98983 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0977632a-c55e-4863-9845-056ae15b1503 CLINVAR:98983 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afede4d6-4452-46a6-abf1-e739aaf64af8 CLINVAR:98983 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 566b82d4-57ac-472d-95af-1cdfb2c6ee75 CLINVAR:279886 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53132286-536d-4917-8062-3560c5e49984 CLINVAR:279886 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1fa8e835-3cd8-4d86-a4dc-d11475f83f36 CLINVAR:279886 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d3b436b8-4e23-4f65-9664-a0240bc6356a CLINVAR:370754 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b23c808-f509-4440-9ea6-f1350be9b5bb CLINVAR:370754 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c6f20fa2-646a-47ca-8d55-879ad0296893 CLINVAR:370754 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5ea1e833-fb28-499b-8432-8445fed5248d CLINVAR:3899908 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37e9378d-92d6-4891-a6a7-16b8494cbc7a CLINVAR:3899908 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 09fe4dc6-4dae-49a6-a67e-fa860714bc99 CLINVAR:3899908 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a9d8cc02-5d5d-4d71-8cb4-e7cdea8e144a CLINVAR:4279568 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 242a7cb5-993a-416c-b217-6e21e906f969 CLINVAR:4279568 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1098c26c-2e01-41b1-92da-a610bf8304b3 CLINVAR:4279568 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6189c230-fce3-4508-9d7e-5b82dd624d2d CLINVAR:4279567 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fdc3d58-a1f0-4504-b1f9-62cea745fb77 CLINVAR:4279567 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a11ae6b-bf0c-449b-a1e2-4b2f70e5bc2a CLINVAR:4279567 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1c266e5f-9d16-444f-8a0b-925e339614fe CLINVAR:98960 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4ccc403d-5059-4f00-b372-c2773825a335 CLINVAR:98960 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 426c47a3-3dfe-4e37-9652-57b5cea29f2d CLINVAR:98960 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e25682be-3599-4863-8d43-76dc5a7c8c8f CLINVAR:98959 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cadc1e99-da77-4700-a1c0-50f2f6b0b8fb CLINVAR:98959 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6068a181-e61c-4146-89f6-c10abd358445 CLINVAR:98959 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f316ee5c-a42a-4ad1-9cf8-dd3adc4400cd CLINVAR:98958 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d41a19d7-2057-493f-b8a2-abc15b8c8749 CLINVAR:98958 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80c88190-a286-443a-b06b-404879275e4d CLINVAR:98958 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f895b06d-e8aa-4fdb-b896-345720c340cc CLINVAR:4279569 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7d78975-7342-4780-8f5d-6bc3ab3722d3 CLINVAR:4279569 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4065d02d-c513-487f-995f-9650b38e5a8b CLINVAR:4279569 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 572b1b60-9595-4196-8e11-f36a4ff55e25 CLINVAR:98943 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b17d7db-a2b1-4fd0-99d5-c981cd968ad0 CLINVAR:98943 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 938f63f8-9220-48e7-99d0-c32b09e8be20 CLINVAR:98943 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 349136b5-94b0-44cb-97da-1688f768760a CLINVAR:98938 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar caf8c1ce-a84e-40b4-a57b-2d841f4e7ab8 CLINVAR:98938 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a45d289-9beb-4b6d-94fd-6ff5afc9be69 CLINVAR:98938 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 61be3ab5-0f7f-4630-a26d-61693897d0e4 CLINVAR:98936 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 367a655f-1eb7-48ec-bdad-d827692ffcac CLINVAR:98936 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5c6efff-2825-49bd-837b-c53666391ea1 CLINVAR:98936 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3c71463-9123-4692-afec-d738f2fe6718 CLINVAR:9896 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2ef33000-b07d-49f9-a007-e4bebe3bb4b8 CLINVAR:9896 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26e76410-b546-44fa-87c4-dfa71146ade9 CLINVAR:9896 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0d5462d0-571b-40ef-a52f-f10a5c391846 CLINVAR:9887 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd7e12d3-6fe1-4bf7-982f-691d40e00d23 CLINVAR:9887 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ea336b66-4a9e-49ed-9c64-a2e37cad8d47 CLINVAR:9887 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43693ae9-698c-4a7f-bd78-07a4691ca8e9 CLINVAR:98925 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a815310-9383-4257-a1cd-14b0d8c90be7 CLINVAR:98925 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7ebdce1c-eb98-4d05-8718-ae71feb69529 CLINVAR:98925 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e80697b5-a0f6-42ef-a4bb-6d07b7c35a0e CLINVAR:449509 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d16a4f1e-8659-4d36-8778-31d0359d85f5 CLINVAR:449509 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7088af48-78a5-450f-b9e2-80aee997a25a CLINVAR:449509 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e1b4fe43-19b3-4b5a-9964-81387285d4b5 CLINVAR:1066419 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c406ff5a-e77a-43a9-9643-c808a723995f CLINVAR:1066419 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3536d6cb-64a2-4404-9f6c-1783d62d93a3 CLINVAR:1066419 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf48e80e-1351-417a-8c84-6e49d89b4192 CLINVAR:9888 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2dcac46e-7a3a-4bfd-936d-6f15398dcf9f CLINVAR:9888 biolink:is_sequence_variant_of NCBIGene:6792 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9ffbd9f-5980-4e07-9227-7f4cce9d8e94 CLINVAR:9888 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c6b3ceb-7023-4f5c-8253-4ed6f8828b55 CLINVAR:4279582 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f64e19f8-b724-42fc-a83b-b31422a4f775 CLINVAR:4279582 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4aa2d1f3-9fcf-4e72-a106-db0e01774083 CLINVAR:4279581 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f46fd26-5ccf-4c68-9a8a-76bbca14d859 CLINVAR:4279581 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1ae86d51-96b7-490c-9a52-2b2e5322e067 CLINVAR:3899905 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fc5a2d1a-4b1b-4be6-a029-63c1c33e994b CLINVAR:3899905 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 338a33a2-2978-4be8-9cdb-30b6f817bb77 CLINVAR:866404 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7865019e-ea27-4db2-93c8-87e0b3ed38de CLINVAR:866404 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1757ac2a-9908-4b3f-94b7-649debbda596 CLINVAR:2159556 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60dc8b4b-7199-4fbb-8238-8b9de1d695b4 CLINVAR:2159556 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f1a7373-f4ea-462c-8f59-7652a5e8a4f3 CLINVAR:4279583 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cccf32e8-7296-4c37-8957-638257655d9c CLINVAR:4279583 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c59057ff-8aa1-43bc-a4b1-07714a36fdc7 CLINVAR:98908 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 73b1c69b-66b0-42aa-96b6-93d47035ff98 CLINVAR:98908 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 637918fb-5fec-46c1-9052-8f145b86bf54 CLINVAR:1419115 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11268ef3-823f-49a5-beaa-193ac7a386d4 CLINVAR:1419115 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3ed04e8-afe9-4ef9-8ff0-6134cffd22d3 CLINVAR:1687568 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec489a70-bad9-4ba1-8d6d-88181cea97c8 CLINVAR:1687568 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 28116681-a0f3-4845-bf14-12beb03bb818 CLINVAR:3899904 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64c6ca7c-2e07-475e-af92-8630c9658f1d CLINVAR:3899904 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f9eac71f-1a31-4849-bec4-afa447002928 CLINVAR:1048161 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad46125d-bf1e-4bf0-8a5e-88624baa6fbb CLINVAR:1048161 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 951d8b86-bd69-4056-b9e8-c1f7eaf349a5 CLINVAR:3899903 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddfae252-bebb-402b-8b82-306c60aad7d3 CLINVAR:3899903 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c97e789d-5883-4332-a1f3-c4551383b782 CLINVAR:99022 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26191c34-43a7-41ff-af04-806531aa335c CLINVAR:99022 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1f9a448b-c66f-40d4-abcf-0defd5be2c0e CLINVAR:99021 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72e1f352-84f4-44e5-b201-3c2f72370fda CLINVAR:99021 biolink:associated_with_increased_likelihood_of MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8532336f-a25b-47d9-8e94-a3bcbac59fb7 CLINVAR:99020 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c472ebf3-77dc-42dc-88c3-859c4bf93f12 CLINVAR:99020 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1db55289-0faa-467e-b8b2-b8fae93ce2ec CLINVAR:4279570 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e49bc9cf-3bc3-4e0f-bb07-c2385442839b CLINVAR:4279570 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd49eeae-c5b1-4e62-825b-ebe717f6d344 CLINVAR:866919 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b755a5c4-f7ed-49e9-af3a-2924cb431285 CLINVAR:866919 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef12a60b-dec9-4958-a7f0-39567ec82ef0 CLINVAR:98944 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12ac8de1-9ad6-4920-b497-4bd281c5ec69 CLINVAR:98944 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aa2d1a58-9cbe-4fda-9ec9-0dc3f01814a5 CLINVAR:3899907 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 278ae31c-1de9-4977-ac78-7497b7ffd69b CLINVAR:3899907 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 84cf3ed0-6647-43c7-b668-2c4aa70d4a1a CLINVAR:488837 biolink:is_sequence_variant_of NCBIGene:6247 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9edda0bf-1a0a-464a-8adb-ca4b55f53f6a CLINVAR:488837 biolink:causes MONDO:0010725 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6a71a9c8-651a-4c0e-aa9e-d5d41be003b0 CLINVAR:214938 biolink:is_sequence_variant_of NCBIGene:5160 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 718770d9-4245-45c2-b017-ccda6ac2afa3 CLINVAR:214938 biolink:associated_with_increased_likelihood_of MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 22b034db-0988-4575-8385-56e3cb5fbd9f CLINVAR:214941 biolink:is_sequence_variant_of NCBIGene:5160 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4146a05c-05a7-450c-a582-f9dd015e32e9 CLINVAR:214941 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64a616fd-f53f-47bc-b299-47a4f01da6a2 CLINVAR:214935 biolink:is_sequence_variant_of NCBIGene:5160 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0887b4d-f22c-4fff-a6bc-fb800fd111d1 CLINVAR:214935 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7f6d760b-c59d-41cb-a2a1-09a712621158 CLINVAR:214936 biolink:is_sequence_variant_of NCBIGene:5160 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d2ac3c9-b937-411b-ad2e-5011afb0927d CLINVAR:214936 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 75debbb1-8023-48d2-baca-3eb94c62189e CLINVAR:10880 biolink:is_sequence_variant_of NCBIGene:5160 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7320679f-c419-4473-82b7-bb3599ddb0af CLINVAR:10880 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel beb3cb80-32e6-4c61-a520-8fe53a8aa0c8 CLINVAR:3900756 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b776c1a7-2f76-421b-a538-a50831821779 CLINVAR:3900756 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a77a3f9c-20c1-4a55-a9e1-04fe44da8dec CLINVAR:931960 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a513606-577b-4581-ae79-d29ee9c8d953 CLINVAR:931960 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1e9ec1e5-da87-4311-bdf0-9e3126398801 CLINVAR:4082176 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04cbb71f-3d8e-4b1e-a1a4-6ed602f7f8df CLINVAR:4082176 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9b3654bf-ab6b-4d8a-a11b-030fe1a092c2 CLINVAR:4082178 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f34b8e81-2996-4dd7-8321-c7c3752a670b CLINVAR:4082178 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 71559afe-9c3a-483b-98e2-e98a0be28700 CLINVAR:810564 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f93b2aa-6cf0-43b8-8390-e7ee8e3c9ec8 CLINVAR:810564 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1235f799-8ae1-496f-9007-1167e5da7738 CLINVAR:2138526 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14d834a3-c9d8-4823-ad6a-6fbb12eb7f18 CLINVAR:2138526 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c93df8d4-40c8-4351-a80f-a598a81ca76f CLINVAR:280089 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd3377b5-7493-4848-a89c-098296724247 CLINVAR:280089 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2c879667-fffa-4181-9844-2946bc918fde CLINVAR:2099207 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6406b504-4691-4f50-a95c-81f07dcd0b5d CLINVAR:2099207 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ea29893-2cab-4463-ad81-9e6975182295 CLINVAR:1802283 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 58dbb49b-5f7b-4c82-8455-36ae46e772db CLINVAR:1802283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88f6d3ef-da94-413a-ab4e-be86cee2c0ca CLINVAR:1284488 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ea64da0-220f-42e5-8d59-e9e745726bae CLINVAR:1284488 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3724ad5c-0cfb-4ef2-a00e-a29bfab37a89 CLINVAR:803964 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7d380ae-f8fc-4a8a-84af-58f7640dff29 CLINVAR:803964 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b201ba32-d0b8-4bd2-b953-f246c50becbf CLINVAR:9911 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 41f14e0e-fbe7-441d-94bb-951af9334679 CLINVAR:9911 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3692a6d1-a888-4368-a3eb-24e97e613294 CLINVAR:866381 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59b663a5-b5e9-4a5a-88bc-4655eeda66f5 CLINVAR:866381 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 296ebf79-cebb-4208-a07c-aab8a081b469 CLINVAR:866408 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14e2366a-beb4-4bc2-b6be-eaab34bdacfd CLINVAR:866408 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5f8ed7e-d1e7-435d-82bf-f10ca8d23669 CLINVAR:1012646 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1658ad0c-5b01-4c47-b24e-73dbefece3bf CLINVAR:1012646 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ddbf8e28-74a4-40fb-b9bd-b4a8ff2ad7e7 CLINVAR:867211 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0303961a-5c2d-47d5-ae92-97235dd1a2ab CLINVAR:867211 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 21c47a46-0e2d-482e-a7de-82423fdba2bc CLINVAR:4082179 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b179e009-ccd5-455e-bc5a-d70344a76948 CLINVAR:4082179 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 063c9e8a-dd7c-45e4-ae93-46a7c15a2d53 CLINVAR:1802373 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b566d9d4-158f-4bc1-9d17-5c2bf19bf419 CLINVAR:1802373 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc7bdd7e-7553-4e87-94b8-61a23908cf27 CLINVAR:812409 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f59f0695-c8f6-4b0b-b8ce-2fd3dc51b64a CLINVAR:812409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6db356f-7efc-4fa8-9513-a2810fb05c8e CLINVAR:2737195 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b1b0b327-fb0b-4891-ac15-5031b8bfcb3a CLINVAR:2737195 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3449ab84-ecec-441f-ac0d-59a05322a61a CLINVAR:4082173 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3ef36a9f-7c42-44dc-a67c-42f5b2a8a079 CLINVAR:4082173 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10a186e7-57ae-422c-98e2-67aa34fb1ef2 CLINVAR:624397 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ae31038-9a62-48b7-9d09-aab48832ee69 CLINVAR:624397 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 201a634a-75dd-4591-a00d-10787561f98a CLINVAR:9917 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 72710467-37bd-4be2-a057-44b4691a7622 CLINVAR:9917 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 85db14cf-126b-44fb-b3ea-425e63c6a043 CLINVAR:1048123 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9f4dc8a8-0e5d-4f15-889f-8cf113dd65b6 CLINVAR:1048123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 173078c1-4271-40cd-8310-426c0f2a1913 CLINVAR:4082172 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 542ce93a-2424-434d-8810-ad6e47b9c03e CLINVAR:4082172 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb19dd1a-af43-4e35-b50a-a337a89a10a8 CLINVAR:2138533 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a5dbe82-6ee2-4bcd-b1ad-5522e582f903 CLINVAR:2138533 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 43d44795-dc54-4ece-a577-8a0d7d29fa11 CLINVAR:812411 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 641a809a-14fd-4994-8d72-c41654da1597 CLINVAR:812411 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 322e8013-47e3-4b83-bb48-684c0ba146c9 CLINVAR:4082171 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4331e54-a836-4563-993a-128736df9e18 CLINVAR:4082171 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd74e3da-57ef-4e30-9f38-b1b0130fbe1c CLINVAR:1802369 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 685a869c-a403-4af7-a123-af4abd96d3d5 CLINVAR:1802369 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 141199d1-ae54-4aae-a2f7-01466fd21855 CLINVAR:1802328 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f2bc3d55-e715-4c52-9111-947d03fcc2f8 CLINVAR:1802328 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a582d9d1-d9e8-4c09-a729-c82208061141 CLINVAR:865798 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 443f3ae0-6e92-483d-8270-801e7b0de19d CLINVAR:865798 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0415482-6729-4e91-bfa5-fefbf605f75c CLINVAR:4082169 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d5eb9b5-4b94-4176-b938-c999999fb989 CLINVAR:4082169 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac5ede01-184d-4edd-8d90-37d4c203a497 CLINVAR:866316 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f27ffc69-7c33-4d85-8613-e6b163c7459d CLINVAR:866316 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dec2e02f-bea5-4035-84a9-3242c103cfa1 CLINVAR:1455429 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb46e6c3-933a-4132-bd33-0efe4a4c6c3e CLINVAR:1455429 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ff695eb-a5e7-4f94-ac9a-87dfcba79fe1 CLINVAR:4082166 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64972b42-6bb8-4ec4-a43b-ec8ef832be07 CLINVAR:4082166 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 964c975a-7053-4778-97fc-a992a2195fd5 CLINVAR:866097 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e5a30be-dd8e-4f22-b7ba-5fc57a9dcf95 CLINVAR:866097 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2cdaf393-dadc-4f00-a598-ca749a58e5fa CLINVAR:9908 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a85982aa-fdc6-4eca-b1b0-2b39e59b6fb3 CLINVAR:9908 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dbada932-c2a0-4e33-acfc-7deeca503094 CLINVAR:1802365 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 81dd8d70-b1b9-4110-b2bb-fc31e4c3cf95 CLINVAR:1802365 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f14c7f17-1985-483e-973c-b1aa0415f9c4 CLINVAR:866274 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 494d3451-015e-4937-b7d4-773830430b9f CLINVAR:866274 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3d4fcb0-77fa-4e26-afa3-991b5bf05de6 CLINVAR:865886 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d989c380-31a7-4455-9ee6-b6210123fb49 CLINVAR:865886 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 35d52378-30f3-41a7-b6ba-ac990ed8c20d CLINVAR:867074 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01872611-125f-44b8-90ff-da1fcbc2707d CLINVAR:867074 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5080856c-a2aa-4516-9b22-2e46cbf17d01 CLINVAR:1802335 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55814dab-e3cb-49f5-8f2a-3129b03e9d2c CLINVAR:1802335 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2f97e8c6-314a-461e-9b0f-a612687445e6 CLINVAR:620583 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fee7aee5-0cdb-43ea-8510-381b17862f8a CLINVAR:620583 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2ea5203-ffc7-462b-bd72-8f1b9d9f04d1 CLINVAR:4082168 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64987d42-68ee-4f7e-8e81-81c586d81e67 CLINVAR:4082168 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fffdb105-59af-4b58-b4c6-fdd436347d0f CLINVAR:1297121 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b07bc6a5-5481-45c2-90eb-7f323090f186 CLINVAR:1297121 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f16fd478-98b6-4ff0-ac75-ee3d753b2a94 CLINVAR:1172696 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4e0f973-58f3-4517-882a-92c0d0770c42 CLINVAR:1172696 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e39f81eb-d3f9-45f3-9c40-c684339972c2 CLINVAR:989392 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76ed781b-a330-4449-8b40-f25d94a7d472 CLINVAR:989392 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 249b919e-0306-4d6d-94f5-02bd531cf5b3 CLINVAR:1297120 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 10bf6cf5-eed3-454c-aeab-23b865119986 CLINVAR:1297120 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2fb6c9f-6aee-4934-9356-41daec84a59c CLINVAR:183262 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62532ef3-cda8-41a9-a6b9-3fe0b4788c89 CLINVAR:183262 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel de6b7c9e-4e24-48f9-a187-eadaa68ca532 CLINVAR:91389 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc1ff6b1-4f06-42b4-9f6c-0238ac5e5380 CLINVAR:91389 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7948606f-4fef-47c5-9789-27344f61ea54 CLINVAR:867143 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e4e8789-5e82-4b01-8dd9-18712a64272d CLINVAR:867143 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7c89a18-5e80-4eef-9db7-f808a58edcc1 CLINVAR:865990 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 32face4d-8868-49a0-9a56-b22b5222edc8 CLINVAR:865990 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d216ef22-c145-48d5-aeaf-9f54143f4b2a CLINVAR:4082180 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5ed46f3-13c3-4ecf-bdfa-0e466181bee8 CLINVAR:4082180 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3088cc60-da11-413f-a47a-f482410256ae CLINVAR:4082177 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 26b6aa2c-7765-42b4-a6ee-3291fbb293fd CLINVAR:4082177 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 36d21484-418c-4792-a2ff-1c546f4dc630 CLINVAR:866191 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcc9f46f-04f9-4593-9e8a-12ca8731a0b9 CLINVAR:866191 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5cf7f089-4239-4901-9b48-f4528eeaa079 CLINVAR:4082174 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dde1b15c-afbc-4ca5-a689-a040f00ed1c9 CLINVAR:4082174 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 06a8c3f4-b412-4ccd-8e4b-53802daca0df CLINVAR:1802355 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f45e629f-e008-4a28-a3fa-444f19869110 CLINVAR:1802355 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 565c9c4d-dba3-4a4e-a645-22e19a388e9b CLINVAR:865892 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar abd134b6-08af-494d-98e9-08e2bbfed2f3 CLINVAR:865892 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b04d5055-b984-48da-82a4-28f4ecc7c35a CLINVAR:866844 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a6ca78fb-d451-4bf7-92b7-052b1ae7b7cc CLINVAR:866844 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13cd09c9-f118-4201-a91a-1168ca0d3489 CLINVAR:975142 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 438eab60-a1fe-4d2c-a293-ad648cc0a8b9 CLINVAR:975142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d907706e-93f2-4f72-b79e-51e677229e5e CLINVAR:2099208 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 233ab836-a11e-4a09-82cb-050535b4c717 CLINVAR:2099208 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 30fc02b5-517e-493e-85d5-4dfc54a9730c CLINVAR:438142 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 145cd058-9f0e-44c4-aa9e-39fceb73863a CLINVAR:438142 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 07c139e9-c426-4877-9a59-a7a434e82dc6 CLINVAR:1275779 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 094b795c-114e-41e6-b89e-c61b413b3f36 CLINVAR:1275779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5052ff4c-48f0-416b-9633-3471bd50fa62 CLINVAR:4082163 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 124fe072-e467-4cc3-8c9c-2ebbdcdb423e CLINVAR:4082163 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 86c1f935-ad4f-43cb-a8c2-982b577d083d CLINVAR:4072389 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 51a0634a-0008-4089-aeb6-a82cd1b172ab CLINVAR:4072389 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9916d136-d7af-4353-88fc-e16f772ee858 CLINVAR:4072390 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c40b0ba8-f3d6-4f4b-a93d-3a0b48137d95 CLINVAR:4072390 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aab30af5-45a8-45fa-b57b-f574ad8da810 CLINVAR:4082162 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 23a604d1-4f9d-45ae-9fe7-93e23dcc9059 CLINVAR:4082162 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b99ef610-55d0-493e-9a14-c748e2c899b3 CLINVAR:4082161 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a222b08-c461-4425-937f-6ddffde559ba CLINVAR:4082161 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 598cec0a-c440-40f6-87ed-493365b70fb4 CLINVAR:2138538 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ede1a2bc-fc42-479b-a6e8-497afe83f596 CLINVAR:2138538 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 93b60e41-540b-425b-9843-1e35b052461f CLINVAR:975136 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7b65b5c-ca2a-49f2-bbc2-88ad8588c837 CLINVAR:975136 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 06acca77-406d-40dd-9364-a0cc0692fc67 CLINVAR:872283 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1206dca1-664c-4204-ae18-61a290be0675 CLINVAR:872283 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7ef688a5-73c5-44ff-8faa-03edb3c4dd51 CLINVAR:98754 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c8e7059-2901-41eb-9179-a35261196994 CLINVAR:98754 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff651020-9f2d-4a93-8f1a-a411b73ea087 CLINVAR:1065689 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7860f46f-e1fe-4acc-8204-3a0fe1dbc46c CLINVAR:1065689 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ddc3eafc-72b2-44e7-bbdd-e29e0ac1111e CLINVAR:866825 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d41b51c1-3fcd-49f0-963a-605639fa35a4 CLINVAR:866825 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1918a4c2-33a7-4ef7-8c68-fac1d1bbf638 CLINVAR:98753 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffb7f438-e66d-4191-a3c2-83716889a991 CLINVAR:98753 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4f86df0f-71e3-4624-bff0-d0d9fd51b6f9 CLINVAR:2907569 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 232707d8-6607-4358-b617-b97498e0dd16 CLINVAR:2907569 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7fd79eb2-e137-4089-90eb-e73576c08e32 CLINVAR:866755 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ce6be45e-5294-4fdf-9f43-c9a625b4cabc CLINVAR:866755 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 291ea826-d906-43fc-ab63-759d1973b16d CLINVAR:4082160 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06908bbc-82c3-4f36-b97a-63cc3bad3851 CLINVAR:4082160 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1e9cda3b-5d2b-4484-86a3-d719fa155b22 CLINVAR:1297114 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06674d25-d48d-45a8-88df-1fdca73c3504 CLINVAR:1297114 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a951b697-8230-4c1c-bee3-122d73e5cb62 CLINVAR:98748 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88020b01-94a2-49de-85e4-0753eb63b568 CLINVAR:98748 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e2e9fbe5-b749-44ad-bbc1-eb115742bcf8 CLINVAR:98750 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ec6dff8-67d4-4736-89b8-78b2fc05fa8d CLINVAR:98750 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b8b0143c-2710-4ae2-8667-a0ce75355a4d CLINVAR:996786 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 45495ac0-4e96-4ac5-8b34-dfe9eee82073 CLINVAR:996786 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a4d463aa-0ee3-4800-8319-d891c651eaae CLINVAR:427866 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 01127fe7-d556-47f0-95d4-830df0614dab CLINVAR:427866 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cd91c02e-26fc-444d-8abe-19130466a682 CLINVAR:236481 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d316e17-72d2-47a1-b7f3-6c649b9bb9cc CLINVAR:236481 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 061ce954-bc09-40c3-8e51-9ba491290a11 CLINVAR:812416 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b81182b6-b639-4dfa-bd19-cdfb703f36c5 CLINVAR:812416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0091aeef-d156-4ccb-b65b-6c6166b7423d CLINVAR:2417518 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f3700602-5df4-4996-aa79-37ab1b8fcc9d CLINVAR:2417518 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3e0da08a-33ad-48a1-8b10-b46f8974271e CLINVAR:1213922 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9b269111-c6f9-49ba-8acd-4e51ea109a6b CLINVAR:1213922 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 363a21e2-aea8-4aab-bda0-c3836b7541f0 CLINVAR:98746 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8cbd3f8c-585f-46c7-9ce2-16c06113eb20 CLINVAR:98746 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6da3f47a-c2a6-4280-900e-4b6021125ae5 CLINVAR:3598278 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0fd85ed2-cad3-4494-85b3-fe592def2e01 CLINVAR:3598278 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 87676a47-6242-4113-9893-b08477293989 CLINVAR:98742 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a1dacb3-dd6d-42a0-af4f-940cf89696a9 CLINVAR:98742 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f940c352-3603-4f7d-8865-255263090c07 CLINVAR:98739 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 02aac46f-eeb5-46bf-b81e-f2ec71c9db37 CLINVAR:98739 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4373dff-e18c-402e-b4a8-f8c0cf99bf67 CLINVAR:975133 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2af031e4-5390-492d-a6c7-2d790d131f32 CLINVAR:975133 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a0d8f111-2623-4f1f-9134-ea8678039bcb CLINVAR:866558 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de388b3c-d4d6-49c4-9fff-c9b1cde9c9f5 CLINVAR:866558 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2eeb6391-137e-4918-adf7-2301cce75fbd CLINVAR:98738 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46c6ebc1-4679-41e2-8864-f9d8bd53d4fb CLINVAR:98738 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b9d87657-31a2-4be9-9c6a-8b6bb4f455aa CLINVAR:1707409 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0c5550a-a322-4bdf-bd08-01c67af10bb1 CLINVAR:1707409 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0912b668-afc1-4e46-88c4-2d676a076f05 CLINVAR:4072386 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7bbb3dcc-1ff3-4b14-9610-f83955264274 CLINVAR:4072386 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5b599272-b0fa-4740-adf3-af722c5d8181 CLINVAR:98732 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 66b7a621-9887-4d33-9a18-64b2b9f0dedb CLINVAR:98732 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6f7630b8-1dc0-4b85-93a7-678916c4f239 CLINVAR:812418 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b9b596b-3036-4739-b630-474e6145f2ff CLINVAR:812418 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c78fdcaf-e33c-4613-8dda-941d2573ca0c CLINVAR:636102 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e9b6479-b1a1-43c0-b360-49a17c594a92 CLINVAR:636102 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7400acfc-a10c-410b-9b95-c29cb05a6a2e CLINVAR:813223 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8402d093-b36d-44a2-b531-4c17e642a2da CLINVAR:813223 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13e8e35e-7913-4d1c-8ecc-437b964d860d CLINVAR:4072384 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4d8ed3d3-5d5f-4ab4-bfc8-5c2a4c3461eb CLINVAR:4072384 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fe6fd168-c3e0-4b51-b170-84be060da9f8 CLINVAR:98729 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d94c2be7-82e5-4342-9379-49a43fdf852f CLINVAR:98729 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0e88a8b1-232e-4cf0-99ae-815479815c7f CLINVAR:98728 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3524e81b-3943-45a4-940d-3ffaabcf9be3 CLINVAR:98728 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 53c51e6c-91c9-4747-a30e-d43dfa1e6275 CLINVAR:98727 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 88e7cb2a-d8a5-4104-93d6-79f4fbabbda9 CLINVAR:98727 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7a04d838-70cc-401d-bc41-858e674e7308 CLINVAR:3028600 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 475ebdd0-fa16-44f2-ab7e-54682bea069d CLINVAR:3028600 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 44e2cb28-9ae4-4f09-b4ba-99e3acc9f725 CLINVAR:98816 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5d8903ec-16af-4640-9e6d-65aad8df78bb CLINVAR:98816 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f4822522-1474-47c9-9a87-0d2ebd111bcc CLINVAR:98812 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d9fc4c52-30c1-4519-954c-b455fe4aeeff CLINVAR:98812 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d90dfe7f-cc2a-49e8-852e-3bccd6b24973 CLINVAR:143094 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d5bb8b3-7d4f-4fd4-807f-24b05d321be1 CLINVAR:143094 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel aaa57529-0f6b-4e8c-8967-74f90a01c952 CLINVAR:4081777 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 804f4d6e-6307-4d8d-afa0-910c0173f0c0 CLINVAR:4081777 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 913758da-4e2a-4d1c-a19f-358149ae7832 CLINVAR:2138542 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14c02234-9255-4c78-81eb-9e661a3042c4 CLINVAR:2138542 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel efe8e87a-f8d9-42c2-b0e5-10884b480ce8 CLINVAR:4082167 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 62955572-0560-458b-9900-cb7627d5815c CLINVAR:4082167 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d7bc1165-8e40-4ca2-8aa6-43a0e070209a CLINVAR:2118600 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f48a5d6-92a0-4018-b52f-8d44fa08b7e9 CLINVAR:2118600 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ab2923e3-19cd-4f1c-9c66-ab37c29ddee0 CLINVAR:866638 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee18193b-8597-4a61-8ba2-3a0249273c21 CLINVAR:866638 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0563b935-8ecf-4b37-8be5-a3f785df4aa9 CLINVAR:9899 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57c109bc-7fdf-44c6-8bc7-88ed10a87514 CLINVAR:9899 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9b8582ca-4916-4ffb-9942-78f382019ad7 CLINVAR:236482 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a5762b7-260b-45aa-914a-0063ec71dadd CLINVAR:236482 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f73809f8-bed1-40ae-b52d-73fe611412e2 CLINVAR:98802 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3cf1e3a8-c6e2-40f1-bf03-052c91f43f42 CLINVAR:98802 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8d35fb5e-8b0a-4088-a488-f6186f9e73e4 CLINVAR:987407 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff9c901f-4f27-4f2b-9d1d-be334c551a5d CLINVAR:987407 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86f09fd6-02db-432b-978d-e0a0c521f7b9 CLINVAR:98796 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76f7e641-7be1-4ad8-8400-61420c2f42de CLINVAR:98796 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e0ce985a-de5b-48a4-af9e-d49e7d281f5b CLINVAR:98795 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7aa60f05-4cbd-4edb-b404-292d28deb5ad CLINVAR:98795 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 677e2934-1af6-40cf-ab74-e5866b3b9436 CLINVAR:866642 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e93ed515-3229-4f91-beeb-9db4f28f883c CLINVAR:866642 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 17fc2ab8-5e8b-448a-9b25-22dcb10d416b CLINVAR:198414 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 57f349fd-4dc6-4e71-ae59-23c8c011aa3e CLINVAR:198414 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fd9db05c-c165-4676-80d4-f46bf615fc6d CLINVAR:4082159 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5b8c0871-c9f5-4aac-9a91-3f20a21fd670 CLINVAR:4082159 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 44fd761a-faf8-4bbd-bed4-67a79a983d14 CLINVAR:975129 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b2ed3c4c-111a-4a44-b2c7-111147884628 CLINVAR:975129 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eebe661d-4c60-4569-84ae-49462d741c54 CLINVAR:449508 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad75e989-1943-4f11-9cee-10f25a9c38b6 CLINVAR:449508 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d95dbcdb-c98a-481c-9926-e9215767c6e0 CLINVAR:3249728 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 243ca0b7-0a96-4322-8f8c-5e077a1414f6 CLINVAR:3249728 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel be04ea99-8dca-4242-817d-6807987278f1 CLINVAR:812420 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e0c730f-c045-4d56-87c6-8c5334938ad1 CLINVAR:812420 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 31d4976e-e8e7-49ae-98c6-1bca1ab47208 CLINVAR:4082182 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f57c3349-8f4a-4f45-90fa-897b80bcbef3 CLINVAR:4082182 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 193d286a-11d0-46e3-bf1a-f4e806223d1a CLINVAR:9916 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dc465282-a9af-4a1d-a390-f823a058f54b CLINVAR:9916 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 25a7b1cf-515d-4800-99db-342e08d60878 CLINVAR:1802334 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a4a6d14c-5f5e-4f92-8ce4-ca39d306e695 CLINVAR:1802334 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e129a5b4-9130-4451-a31d-941bfc3c91dd CLINVAR:812421 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc1ce900-3199-4403-a7bc-dbb092652a6f CLINVAR:812421 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 972a42fe-cbaa-4f8b-8c22-c3f205cf1ba5 CLINVAR:636203 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e39afd04-f6b3-4ab1-a829-088c60f3cb55 CLINVAR:636203 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f2ab7007-5a06-42c9-bad4-5bf05710e9b8 CLINVAR:98787 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6daa86d1-27ce-4d5d-af95-536634ca2167 CLINVAR:98787 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 733d4ec9-3cea-4db2-85e1-c309be347c3e CLINVAR:9912 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e221a83d-1953-45bc-a21c-e049d8230a8c CLINVAR:9912 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ffe540b1-ca48-45be-a5f9-c3d0fca14bb3 CLINVAR:4082175 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e6a5f3e-5999-4d99-9792-e23ef8d442d1 CLINVAR:4082175 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 54fb3b3a-0465-4ec9-8a55-1b53ebb7620f CLINVAR:98782 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec95b697-915b-4009-8ce7-02e655abc764 CLINVAR:98782 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 997dd2fd-c6c7-449c-b54b-d7db51c317af CLINVAR:98780 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49c54ad0-1a37-4479-9b3a-824d633cefcb CLINVAR:98780 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d9bca645-b8ba-49aa-a377-5ecf26e09aa4 CLINVAR:98779 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 08141115-bf2c-4a29-88cf-fdcab44ce245 CLINVAR:98779 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b7e5697-7532-453a-8b89-dd88af1c70b4 CLINVAR:4082181 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e1d62032-4f6e-4557-b610-697d987d3d46 CLINVAR:4082181 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e950accc-f2fd-4581-89c2-3b171604dcf2 CLINVAR:1356123 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e487f660-6690-4a8e-80ee-56a3414ad027 CLINVAR:1356123 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d0f422cd-451c-4d44-af9d-2bccfee6653b CLINVAR:4082165 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30b008e2-9059-4400-b9ed-a7da4a8e04bd CLINVAR:4082165 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 83624bfd-ca90-46f6-9bc6-8b85e474c57f CLINVAR:3028605 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8371afad-28a7-42c7-bb38-b12c99db6f17 CLINVAR:3028605 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e4e51854-9c25-4960-bd4a-6f5c1c8c97ad CLINVAR:3249360 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2eac17c-46af-4870-9e04-8b40d9a666d9 CLINVAR:3249360 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel baac34d5-b014-4b67-9c15-a1584207e308 CLINVAR:2430151 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85b6a7ed-68b7-44d2-9aa4-415e4cd2423a CLINVAR:2430151 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4c47e075-cda0-49bc-bd84-8e03831f508c CLINVAR:865888 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f763da6d-fff1-48ba-b44f-b6e9dfd346d9 CLINVAR:865888 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 55dc4802-4291-4c96-b7d6-27c576f0bca4 CLINVAR:4072388 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3e5d917a-0172-4cd3-a04d-aa4f0b04a632 CLINVAR:4072388 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 914108a7-d6ae-4600-8824-41014d98eac1 CLINVAR:9902 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16237882-0d0e-427c-b754-bad536a02320 CLINVAR:9902 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b60aedfe-3a19-43ed-b0ca-3f12adb50133 CLINVAR:1676154 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afb51d7e-3947-4aeb-9911-0eeb2dc9b273 CLINVAR:1676154 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 05c0a1a5-6893-4560-93ee-8c721028ea7f CLINVAR:3249416 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dcb45bb8-9f12-4e8c-8166-96c722ce34ea CLINVAR:3249416 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b49f4a6-0809-41d8-a828-e946bff375c7 CLINVAR:813232 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60ee1c9c-3e51-42f3-90e6-0f11da583700 CLINVAR:813232 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3bed3b12-aa29-4423-8b5e-a146eea486f7 CLINVAR:593841 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb69865c-4f89-4a4b-8e23-7df75caf5a97 CLINVAR:593841 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d209a7d4-b3a1-4ce7-8f65-72df341ccc63 CLINVAR:4072385 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f64b05a2-12f7-4401-986f-2545022f0ced CLINVAR:4072385 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 63e1c708-61af-4ee9-b32f-102f383c1531 CLINVAR:4082183 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4461dbe4-32b9-4b44-b86d-cfeb680d8131 CLINVAR:4082183 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bddde23e-22b8-4d7d-93e4-76e666cb2764 CLINVAR:4082164 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 698e8031-b380-4a91-8164-d1eaee3e7a9a CLINVAR:4082164 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b8cac5ce-a0dd-4f6c-ac60-19d7bfcd61ea CLINVAR:636110 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f46dd0e-596a-4c82-8ba3-af3083a5d261 CLINVAR:636110 biolink:is_sequence_variant_of NCBIGene:130068098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5bab933-ffb9-4db8-abd9-62a621f8089e CLINVAR:636110 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0455884f-3c55-40cd-9b1f-2b0bfa196eec CLINVAR:98771 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c8fe97e-a678-4bff-b24d-e90f95ea5c8e CLINVAR:98771 biolink:is_sequence_variant_of NCBIGene:130068098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 04071e31-4a43-4973-bf2d-21c6b968b6d1 CLINVAR:98771 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 20240bd3-bee1-4209-8685-21c9aa8aa8ab CLINVAR:4082170 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e10615cb-09fe-49c6-8f21-22b93c9fa02d CLINVAR:4082170 biolink:is_sequence_variant_of NCBIGene:130068098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a41800b0-e3d3-44fe-93d3-7d3897f5776e CLINVAR:4082170 biolink:causes MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 534a9ae4-8d2f-4380-b5f3-02400dc445e8 CLINVAR:1928684 biolink:is_sequence_variant_of NCBIGene:6103 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad553cd7-d7bc-46c3-b242-e217cfc8203e CLINVAR:1928684 biolink:is_sequence_variant_of NCBIGene:130068098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f098e28a-7629-4ef8-a170-8649e5a03d8a CLINVAR:1928684 biolink:associated_with_increased_likelihood_of MONDO:0100437 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 80ea10b3-b4d3-4bd5-8e16-6c89363f08a8 CLINVAR:418656 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78aa982c-9874-4a7e-8d03-f370b4710e2c CLINVAR:418656 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a05ba079-70fa-4d7a-b666-241beeea7b69 CLINVAR:2138599 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47e35590-89b5-4ae0-a3bd-b90c461d5511 CLINVAR:2138599 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b0996e91-4c59-4ddb-b6ae-79efdf8aa5d1 CLINVAR:280035 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 392dfcc1-8d39-43e5-863d-27baac11f34f CLINVAR:280035 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 18b6b2b5-0dca-462c-abf0-8a9a6f1b8b53 CLINVAR:962267 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47df34bb-2186-4644-8e85-1ec6ca391809 CLINVAR:962267 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1bf04464-30de-4edb-bb30-f7e9798ce93c CLINVAR:1411137 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c7f60c8e-e5a7-48fb-886c-f58ea4846a6c CLINVAR:1411137 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7456be1d-8d2f-494e-8f11-a45978c6f2b4 CLINVAR:463384 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8509fbbd-4ddc-4fd4-86cc-755ded9defb5 CLINVAR:463384 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e880dd75-240f-47c8-ba92-d561ce9665af CLINVAR:36388 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70c13f70-ed36-4a3b-93dd-32ff9200cebd CLINVAR:36388 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3a5a10c5-9699-418f-9f84-4d7af72b66bb CLINVAR:503682 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 55608142-42aa-480b-b24b-6fe42ad2aa69 CLINVAR:503682 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b54154f-5032-4364-b374-aa6f735d4fc9 CLINVAR:225196 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c05ef66c-5464-4f5f-b90e-f28a9f0b8594 CLINVAR:225196 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7cf601ca-4b50-4495-b556-8f77d2142735 CLINVAR:225195 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6bb7647b-f748-475b-9bf3-7d81a42e7be4 CLINVAR:225195 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6ab280c3-7b74-4061-9e6a-2575604f2054 CLINVAR:225194 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52a5e0e5-3b11-4f8a-b75c-b84a8112bd3f CLINVAR:225194 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 40d6bb27-637c-4696-8724-adbe1a2349ff CLINVAR:10027 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 12c4ab81-2061-49ae-b4b5-4fc7214914e5 CLINVAR:10027 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f0df6671-02aa-4b77-84c4-fbc732373c5b CLINVAR:419664 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71366c89-c442-45d9-affe-9d26fb1e22b4 CLINVAR:419664 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b4097093-dde0-4885-948a-034ebdd2613c CLINVAR:624584 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 132f2502-0799-4b83-be76-8d2cede3dfa9 CLINVAR:624584 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 487366a1-6239-4314-883b-5537fe06c3b8 CLINVAR:3066454 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ecf85b60-1477-404a-b0b2-3788defd8f10 CLINVAR:3066454 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 4ade41ff-8879-4e2d-a57e-69d9c5012fcf CLINVAR:947759 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 30bd66d9-b310-4b9d-be2a-c5bdd3341d7d CLINVAR:947759 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c6b33ed-308b-49d3-8304-0976a9f36a5a CLINVAR:10025 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ba9ae439-b543-4a6c-98f4-e9f015ba1145 CLINVAR:10025 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b8854489-8624-41f7-aaf4-c45a9b442b65 CLINVAR:1371376 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3d1853e-e5d4-4cf4-b4c8-b62ad03bb307 CLINVAR:1371376 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4f0eb1b-021e-4b3d-83c5-8794eef22f43 CLINVAR:488696 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b94902de-af1f-4780-8f0a-84407fadb3cf CLINVAR:488696 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 16e96e02-1ba6-4b09-8555-172d0dc35b3a CLINVAR:1028611 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4dd69faa-353d-4400-9f7f-3ab947954048 CLINVAR:1028611 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ccad58d5-d262-437d-81f6-7f700daabbdd CLINVAR:1369885 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f547c34d-7ccf-492f-8847-16be644925d9 CLINVAR:1369885 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 754da037-28a3-44e0-bb0e-225b3b30e629 CLINVAR:941327 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05c3adf8-4c17-47fd-b475-b00b3381790e CLINVAR:941327 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 942f79e2-e0ee-43a7-8c7c-e63669872049 CLINVAR:379561 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d2b86368-e510-49c0-9dcc-c33282307068 CLINVAR:379561 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 6b1102ce-bd98-430c-b3d2-fe7f269b2610 CLINVAR:10019 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c98c4b2-1fdd-439a-9c37-4e26f04d47ce CLINVAR:10019 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c7c27063-297a-4bc3-8de4-c7d80fe36e37 CLINVAR:1066149 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d950cb7e-2c56-4e13-a209-3e1ce411754f CLINVAR:1066149 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 386505e7-f2d9-43ca-b130-ae9ed76e9363 CLINVAR:636917 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b56c1a06-38b1-47ad-9092-999785b1084c CLINVAR:636917 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a2f787fb-d845-4b54-ad6a-47d2321bbcc7 CLINVAR:633275 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c1cefeb-da42-43ea-9c61-01819b239b59 CLINVAR:633275 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5673f6bc-c0c8-4292-9e52-ad9bfd76fe97 CLINVAR:1677132 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 161c7164-3678-4e54-bb4e-87a2f2222b8f CLINVAR:1677132 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1b76886a-12ed-44d8-8ffb-2771f4d2ee3b CLINVAR:1068066 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 835b0612-91f8-4c5c-93c0-74e455792b65 CLINVAR:1068066 biolink:is_sequence_variant_of NCBIGene:126863274 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f61ac093-c0b2-42b4-8f04-3bb24ce48b25 CLINVAR:1068066 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf99b415-d03b-46f5-9a08-2e430fb355ce CLINVAR:1066837 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6ae55e5-004b-4561-bf20-cb298741c5b2 CLINVAR:1066837 biolink:is_sequence_variant_of NCBIGene:126863274 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ecb592a-dcb6-4a16-926c-31d5e5b1e2a8 CLINVAR:1066837 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 981fadeb-ab28-4bda-b872-c589bdc89be5 CLINVAR:1368945 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7410e53f-6fb6-4f33-9413-40d568daa92c CLINVAR:1368945 biolink:is_sequence_variant_of NCBIGene:126863274 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64be81ee-4f9f-4413-b041-80e24171c930 CLINVAR:1368945 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fac8c059-4fba-4d0e-b204-125bd54cebf3 CLINVAR:1323112 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff0bacda-9d4a-4652-b198-f7608c4a925f CLINVAR:1323112 biolink:is_sequence_variant_of NCBIGene:126863274 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6c48254a-cbf8-4edb-aec0-c83e9909dc2f CLINVAR:1323112 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7b29a7db-9477-4421-8171-c10766cb9921 CLINVAR:463378 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2efadfa4-c600-4995-825d-11bad75d8d69 CLINVAR:463378 biolink:is_sequence_variant_of NCBIGene:126863274 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06e581a3-fed1-4aff-a070-79aced4081dd CLINVAR:463378 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5cfa3b6a-8dec-49f8-9130-43d4ac257d4b CLINVAR:372386 biolink:is_sequence_variant_of NCBIGene:3561 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3ed9df6-2809-4ea5-8f99-1c64ccf427db CLINVAR:372386 biolink:is_sequence_variant_of NCBIGene:126863274 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3db9bfd6-b30f-4e1b-a3ce-411deab91c54 CLINVAR:372386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57ba0872-64a5-4ee0-a6e9-a5f4aedcb28b CLINVAR:207248 biolink:is_sequence_variant_of NCBIGene:10479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ced46f7-eeb8-42f9-a0a8-e90acdae829e CLINVAR:207248 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c2ad72d-74a4-4ef5-ae16-67d4ca703625 CLINVAR:167702 biolink:is_sequence_variant_of NCBIGene:10479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d7e6003-a4fa-449d-a667-99b8b96c8390 CLINVAR:167702 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df34a79b-9e2c-4ee7-94a7-4cdffc33bd66 CLINVAR:95378 biolink:is_sequence_variant_of NCBIGene:10479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a54b174c-dc77-401a-9e73-3962d5df04ad CLINVAR:95378 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b05b515-7d13-4aac-9ef8-a64c51798510 CLINVAR:2138734 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 50e3560f-6fea-4c03-a0cc-c9923ede771a CLINVAR:2138734 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 59aec7d9-ee40-4a82-8470-907abc717f97 CLINVAR:651569 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da7b59f4-1615-4c7d-96f5-3d556b09e370 CLINVAR:651569 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ed1d76b8-5bec-4a8c-b6f9-013d3a58f3b5 CLINVAR:627400 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b82d2491-8542-44ba-9d5c-8928ded49398 CLINVAR:627400 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bd64d031-74ed-450f-b1cd-13c4c2446456 CLINVAR:627155 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d76f2378-b9ba-44fd-9790-d2b4f82a6a66 CLINVAR:627155 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2da91c04-fab8-41bb-96e0-f413bcef000d CLINVAR:627156 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cd34c697-1877-4f7b-b638-3f900105f1e0 CLINVAR:627156 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 347bb0d7-d1ba-4036-a97c-700140e8091c CLINVAR:4849522 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27b90533-ba42-4e04-a234-68ef72b1f931 CLINVAR:4849522 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ede930bc-aaed-4eb4-9693-44f0fec59d85 CLINVAR:4849523 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65e3cdc2-dda0-4a76-9dfd-02b658c663e5 CLINVAR:4849523 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6f9507c-68ee-42c1-8462-60a1ee38b606 CLINVAR:4087781 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9bf0875e-23a7-4e4b-a1fa-90a0a3fe11bb CLINVAR:4087781 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 62147f69-ae3b-488d-8a96-8c63b6463aa4 CLINVAR:618643 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 633b7072-5a28-4b92-8bcd-7c6a58b02343 CLINVAR:618643 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ad7bb912-b44e-4bb1-a739-5921c6487225 CLINVAR:4849521 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0cc5e50d-c63a-40eb-baa7-5fa99906fc71 CLINVAR:4849521 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3867b3fb-70d6-4624-860a-12af38bd954a CLINVAR:4849520 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6ab3d479-2ade-41ec-aae0-07f52b35099b CLINVAR:4849520 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 91476509-1ab5-4521-a85b-1f2c9def4615 CLINVAR:10572 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7cca7ac1-1d88-4c9f-924b-0fbbdc56efd3 CLINVAR:10572 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1fbca983-e1d7-4e0c-817a-9e8230749cb4 CLINVAR:10573 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 362df302-6dfb-426d-b88b-0510bc99f4ba CLINVAR:10573 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel af63ccce-0c77-40ef-821a-10d88e936e62 CLINVAR:994410 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 19d2a325-ede9-465f-93c1-6522e9a4e690 CLINVAR:994410 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c549a8c1-0de4-43a0-9d7b-b1be4aa67780 CLINVAR:10579 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 669c8f81-22ba-46f0-a42a-172629eb9c52 CLINVAR:10579 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10e0a10a-95d1-494d-a0e7-a240b74e52e9 CLINVAR:627177 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d42b36fe-5abe-44b0-94b6-5168ec556c69 CLINVAR:627177 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e69de69b-3fba-4331-9631-9f3c2f3e1e26 CLINVAR:811516 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aa11fb73-3268-48ce-9f90-0d8f3603855d CLINVAR:811516 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 38ffc2d8-5013-4a8b-b7b4-04449d7237be CLINVAR:627180 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37dbb45a-aefe-4bf3-9509-1b5d101fa570 CLINVAR:627180 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7453b1dc-58c5-4464-9290-6a643cd8697f CLINVAR:10585 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 077c9b59-5f60-48dc-b28f-075e2fd7d7a5 CLINVAR:10585 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60f60351-973f-4436-b72a-76acdc2e4c43 CLINVAR:810867 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b807e20c-0634-41ca-b50d-1c9ca7a69aea CLINVAR:810867 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ab5858a-a156-4820-970e-29f22cb4bf03 CLINVAR:627143 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ff9ab9d4-210a-4bf3-a778-5a2b38bc15fe CLINVAR:627143 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ed86deb3-7ba9-4ef8-987f-14a6cfb56e57 CLINVAR:4686603 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2f443e23-bd28-4d27-bf17-ab18fc1cdd76 CLINVAR:4686603 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 04facb88-ea32-46bb-a8e1-d13098620436 CLINVAR:4686604 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2eac0d1f-b6ef-412e-9fca-20cbee069f5c CLINVAR:4686604 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c147b235-80c7-4034-a376-aad4199098d5 CLINVAR:4686605 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75b4ddbb-2b69-4dd1-9532-799a4cc117c7 CLINVAR:4686605 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 86a5483e-c491-4f99-bd84-f38e3deff811 CLINVAR:216926 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f79138df-0da3-4929-a6b1-d5db2cb98343 CLINVAR:216926 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 24ea053f-7136-453a-94f4-1e86f6dfa102 CLINVAR:10587 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f88a4c2-7917-4d9e-90e8-2a4dbd6cd40e CLINVAR:10587 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88f2611f-08ed-4772-8fc7-8e6fee79bb7e CLINVAR:10602 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d94630c1-e084-4e09-86f3-0669f82d84c8 CLINVAR:10602 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 64b81261-d9f3-4730-ba94-f25fe2e4d4ef CLINVAR:3390362 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7f9029e3-81a2-4f57-af23-5b27d193f4ef CLINVAR:3390362 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ab5e5fb-10f2-45ed-a1b0-daed70cdd85f CLINVAR:3390363 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7b78afc-e8b4-437f-af1b-b23fc6fd394c CLINVAR:3390363 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel dff6b70c-2d3b-47d8-a96a-1bfbf75cd7fa CLINVAR:3390364 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 79b67e08-fd2e-4fa0-9a4b-e3023cf3a6d7 CLINVAR:3390364 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5132233c-a945-4926-aa3b-53038faf176a CLINVAR:626950 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e4216302-a08e-4a8e-8785-ea7bcb25079c CLINVAR:626950 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a5c013d9-0eea-44fa-a9f2-5dd94c8c5718 CLINVAR:10606 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1d87b25-a258-401f-8843-8db5017ef854 CLINVAR:10606 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3caa7f1a-39f3-4517-8bb8-0be8b20e3852 CLINVAR:3242389 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43188447-ea35-4325-b7c1-e6cf4381e680 CLINVAR:3242389 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ece14787-b8c7-420d-9dc7-958abfa82372 CLINVAR:10607 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 95e28611-b723-4756-9d11-3a791bf427b8 CLINVAR:10607 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff9afa42-e097-4186-881c-40e39705df58 CLINVAR:626973 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 85fdfbd9-dae3-4ecc-950b-54eb1e2336b2 CLINVAR:626973 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c743875c-214d-4f17-88ad-460818049741 CLINVAR:520832 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d97698a7-89f8-4c54-989f-60da47d3f078 CLINVAR:520832 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e4ca1f06-0b36-4c24-958a-6c88d66328a5 CLINVAR:2775451 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 496bb015-03aa-4bc7-9ba1-a961f491ac98 CLINVAR:2775451 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 895b65af-c2fb-4613-95fc-6c55dad7d6a2 CLINVAR:3242385 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d3866b26-2816-40de-a71f-7f25c1584820 CLINVAR:3242385 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 35e06c42-2a3f-45c1-a230-da7497900909 CLINVAR:811512 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46524e42-edef-42c9-b023-c5d87f642067 CLINVAR:811512 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 0b26f1ce-e451-4171-985c-4c2c54d490a7 CLINVAR:10624 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59663045-4678-42f8-8d0f-a7cadabc989a CLINVAR:10624 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3c624cb4-0edf-4e44-89dd-3632e2a3af22 CLINVAR:811513 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d4651ce1-8f0d-4bd8-88c8-fb8d7fc77a20 CLINVAR:811513 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bd7c730a-35f0-4758-a7e3-5b94722f3031 CLINVAR:3242383 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cf220246-e9c4-4a70-b587-6ece39756432 CLINVAR:3242383 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d0ddad7f-df4c-48af-9d64-66e0344f8ccc CLINVAR:3242384 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f7df3021-2795-4439-ba8f-4052e105616b CLINVAR:3242384 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f3d27372-20b8-4763-a909-eed3be514b7e CLINVAR:3242390 biolink:is_sequence_variant_of NCBIGene:2158 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c8806728-0cf7-42c0-bedd-794033ac3f9b CLINVAR:3242390 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 82ada63e-d53a-475f-981d-8097346d7380 CLINVAR:11057 biolink:is_sequence_variant_of NCBIGene:4534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 37a5ac07-0a98-4cde-a0ef-d785eec62f55 CLINVAR:11057 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b679559e-855c-442d-9de5-99eda327d2cf CLINVAR:11055 biolink:is_sequence_variant_of NCBIGene:4534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca356aa8-cb02-44d2-84e6-6a65ca2f32a9 CLINVAR:11055 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f518221e-333e-4a32-bfb6-840f7deb6502 CLINVAR:158984 biolink:is_sequence_variant_of NCBIGene:4534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar dd723f21-7910-43b7-9ae1-c089a9ec5a42 CLINVAR:158984 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9a981495-b89a-4573-949c-a3043882c478 CLINVAR:158987 biolink:is_sequence_variant_of NCBIGene:4534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac71e849-4e75-4318-b6bc-10a8ec07306c CLINVAR:158987 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4bad551-5086-4253-847b-5e4bf57af33a CLINVAR:11060 biolink:is_sequence_variant_of NCBIGene:4534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25533f59-2189-40c3-94b9-502f479a685c CLINVAR:11060 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2021c4c6-0dc6-41b1-80e7-09439ebd1c0f CLINVAR:92677 biolink:is_sequence_variant_of NCBIGene:4534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6b371b16-a3a3-48d8-b1c7-1e1a56cd7537 CLINVAR:92677 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f71ccf85-d8b2-456e-867d-f85db2bc2804 CLINVAR:4533401 biolink:is_sequence_variant_of NCBIGene:4534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4389f2ee-7fe4-45fc-9eb3-18571d9034fd CLINVAR:4533401 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 977ae9e4-f397-4745-9afd-ed97dfade4f3 CLINVAR:4475856 biolink:is_sequence_variant_of NCBIGene:4534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6d0713ac-d55f-40b0-b8c4-f16fa16d02f3 CLINVAR:4475856 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 97fc52a2-30ea-48d3-8bc3-9e46fc76fd7d CLINVAR:530855 biolink:is_sequence_variant_of NCBIGene:4534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 64ce320b-7786-40ff-9a2c-53184d3e154e CLINVAR:530855 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 106b62bf-43dd-47bb-96b7-ce0276e0d833 CLINVAR:158923 biolink:is_sequence_variant_of NCBIGene:4534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ee961eaf-d46d-48a6-9b59-c9e8f8bcd1cb CLINVAR:158923 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 10971f37-a076-486f-8cdd-14346c13380a CLINVAR:930768 biolink:is_sequence_variant_of NCBIGene:4534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b4031e30-d53e-4d22-bd04-715f7fa6a6d9 CLINVAR:930768 biolink:causes MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45a9212d-fe53-445a-b03d-fc2c2f6f1fea CLINVAR:158953 biolink:is_sequence_variant_of NCBIGene:4534 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6764e32-d92b-4da7-bca0-0c04f7c9fce5 CLINVAR:158953 biolink:associated_with_increased_likelihood_of MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d3d3ba02-4b09-4554-8976-d3c3dc68c92e CLINVAR:533702 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1171d65f-7af9-4d62-b4cc-7bb65d31fe74 CLINVAR:533702 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 91ba4628-5b65-475b-b7be-63c96c1deb6c CLINVAR:3066430 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0576f8db-37cd-48a0-961e-7a27ba3ac393 CLINVAR:3066430 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7dad1895-f68b-44e4-82e0-13c096086d91 CLINVAR:1023481 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 715e8180-7b40-4309-99a5-7714bc5cb2da CLINVAR:1023481 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e0d31197-d289-46e7-a7ea-2441db937ad5 CLINVAR:3066431 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 133af8c9-4e1b-4d19-8350-e9d30896561e CLINVAR:3066431 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cca59bd4-8018-4f4e-bf24-c2bab9b06496 CLINVAR:3775041 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aaf5cb3c-655b-434b-9eb6-bc2c3285c6b1 CLINVAR:3775041 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8e841b99-21f8-449f-bf3c-ff85fab92f22 CLINVAR:3066445 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3b90e26c-5f6c-4ca8-9166-b9c6aafa9400 CLINVAR:3066445 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a6ac6b39-3ffc-47b9-b061-48a5f98e0d6f CLINVAR:11701 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb40ecad-5f63-48d6-a493-f0719073d6c5 CLINVAR:11701 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d607d2d9-8a77-4bc9-8710-3fb6732174b1 CLINVAR:4537503 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e9474fab-be86-4191-95ab-da5b121929ee CLINVAR:4537503 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc135bab-4bdb-4b2c-bff2-82e0e117a690 CLINVAR:21448 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e559cee9-1808-481d-9b59-97c4f0037419 CLINVAR:21448 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 918629b6-754e-4915-8114-01698b5accba CLINVAR:940774 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e14186c1-33a5-4970-baeb-ef7955bc54a7 CLINVAR:940774 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7110b52e-c2cc-4582-85a5-73a0597cc502 CLINVAR:11703 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 20f6ea1c-4891-4fbc-bfb6-477a022c540d CLINVAR:11703 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d8c6ba7f-3d62-4afe-9ccd-9424852317d4 CLINVAR:651752 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90cfbb43-cb7a-4ad2-add0-bac35555343e CLINVAR:651752 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d3e5a43a-9579-479f-856c-117cfdc8a44d CLINVAR:3256152 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 855dcb3a-c4e0-40ca-9a1a-e983b8e417ee CLINVAR:3256152 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a6d3d28-8c82-4616-bbfa-7370e5889dfc CLINVAR:3066429 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a5a73825-19b2-41a4-9cb3-5a0443e6b6cc CLINVAR:3066429 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ccbe005e-83c6-414b-bfcd-6e8c9f57abcf CLINVAR:2583099 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e96ba49-b4bf-49c4-ae22-1c481e3e4d6a CLINVAR:2583099 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3d548645-da7a-4d96-a029-c8d6c01aa787 CLINVAR:3256154 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5e551d33-379b-4a54-92b5-36a3cd4b1e2e CLINVAR:3256154 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 538ab639-541f-483a-9585-f3e8582f582b CLINVAR:449366 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 76ee3246-ab3e-4964-9df2-60161df498de CLINVAR:449366 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 48c092dc-91d4-4f85-b1ae-9d530f5c1d1d CLINVAR:1211026 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 675aa561-9d1e-4102-8de7-ee856c73c6d5 CLINVAR:1211026 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 766f2a04-2c1f-4ae3-a518-d2c79d4b3b0b CLINVAR:635461 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0dd2a12e-6ed0-4feb-92d1-4f15667b2060 CLINVAR:635461 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fa6891f7-efb5-471c-a66d-d9745d16f7d2 CLINVAR:2446446 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f718201-271e-43a1-9d64-2562bca29170 CLINVAR:2446446 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ed0b0a45-ddd8-4526-beb9-d23e1eb78e33 CLINVAR:2446445 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9219b2ff-e779-49b2-9c2d-9047a471d128 CLINVAR:2446445 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b9d75bd4-5872-4532-b1ea-5ba2a737d4b3 CLINVAR:3066449 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar de7821cc-fb98-4c56-86b8-f15dcb5d88d6 CLINVAR:3066449 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 595c1d44-4a0a-4e16-941a-3d18c0fe1d55 CLINVAR:452407 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6fccdfd-f73d-4868-9c81-5d6d19b3f81c CLINVAR:452407 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 88041f79-0ee5-4f1e-a461-1e5665fd4120 CLINVAR:3256148 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6fa2bd5b-1134-474f-9ce0-6f5434b1a858 CLINVAR:3256148 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3c86a1b6-2e06-4af7-a8d6-586064ea17a3 CLINVAR:3066444 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e2a3d006-1e75-4729-b461-74f6c8ebc2fb CLINVAR:3066444 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5bdb3fa-8f77-48a2-9ff5-fefa5c5bd5b7 CLINVAR:3066423 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3422a618-636d-44b3-95cc-2b5b785b2ca7 CLINVAR:3066423 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cf2e19c2-5e84-478a-80fd-b7292df755d4 CLINVAR:2446447 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f01fcfe-fdc4-4da4-949b-bd6e227c1a0e CLINVAR:2446447 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3967466-a90e-45d4-b759-da36467505a9 CLINVAR:2446448 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b5522bd-47f4-4897-afae-d18383f67328 CLINVAR:2446448 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1716a7ea-71fd-4e3e-9f65-1d1f7326637c CLINVAR:2583100 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3d8919ad-24cd-4ea3-b8fe-ff6ab9831e3f CLINVAR:2583100 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel abeab281-4c71-4379-8315-0322464a9704 CLINVAR:2446449 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ca84020-48fb-438b-b33c-f43100a57ff5 CLINVAR:2446449 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 766eaf66-30b9-4f37-99e5-e864a3b2f8c2 CLINVAR:2583097 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4fceaf38-58e9-462d-abc5-bfac1e1ffdc6 CLINVAR:2583097 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2740d07c-84d6-494b-b02c-68c46bba8422 CLINVAR:3066427 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f5defb8a-5039-4d7a-b601-6d77aa26ca4c CLINVAR:3066427 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 156f269f-3a75-4e9e-b2ae-fac69f5a027e CLINVAR:633583 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 761fa049-cde3-4c78-b982-bc9add4efde9 CLINVAR:633583 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 069f0d59-93dc-4c8f-bf08-1012de93e146 CLINVAR:983532 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 404e6c1e-b1c5-47de-a300-d8e8682bf54f CLINVAR:983532 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 947527d1-b743-419b-ae18-47bb5ddf36b1 CLINVAR:586615 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c434b1ed-ecb7-4658-8a98-f391e77c6539 CLINVAR:586615 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b6206ed7-c4a4-4cc5-b6e9-f9770086faf2 CLINVAR:11699 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fa305cb-fae3-47f6-bf43-a874bfb06120 CLINVAR:11699 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1a8f508-e8b1-453f-a9d9-1450fb7c9a8f CLINVAR:410218 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f40b11e-6a82-4899-8b93-7d2387a52197 CLINVAR:410218 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9785357a-0823-4d88-b0d3-826617547c64 CLINVAR:265402 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70a57dec-429a-45e7-86db-2d5e49158f52 CLINVAR:265402 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae1d8f38-9c69-45b7-ae4a-25edc9936e84 CLINVAR:520792 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar add811dc-3317-4523-8775-3e77399e7b66 CLINVAR:520792 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ff09c5da-fe58-47c6-82fc-cfe076ba0a0e CLINVAR:2683731 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06a8fe5b-924e-4852-b054-3c751876d57f CLINVAR:2683731 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f5add0cd-cf6a-488d-b498-6921354a11bd CLINVAR:2683736 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a162858-1c70-4662-a042-5a66003bc44b CLINVAR:2683736 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9a453b66-80ae-4c18-96dc-e4154fd92436 CLINVAR:2031214 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edf0aea7-185d-4959-be08-ab8d56b9708d CLINVAR:2031214 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b3e67cfd-c1fe-44e4-940f-d6943303f254 CLINVAR:11697 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7e3089f8-ec1d-489f-b72e-58ba13361dbe CLINVAR:11697 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 38784049-b805-4bec-9753-4a84cb7d74a6 CLINVAR:3066446 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4293c79f-582e-4c4c-b286-d401acff72f9 CLINVAR:3066446 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3f750f45-406e-4788-a077-92c57a6c2f44 CLINVAR:3256150 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8fd17775-39a6-43c1-aeb6-369eaa893cfe CLINVAR:3256150 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c3acec06-361e-4a95-b9ec-6b30c9335118 CLINVAR:533700 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3274305e-d9ba-468e-8141-cf00fc654430 CLINVAR:533700 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 835bdc4f-dcf0-403d-9e0c-d3af59f24c3e CLINVAR:1361089 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 684c515d-ac40-41b2-b315-4ae685abc531 CLINVAR:1361089 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel df12bab0-5f12-47ab-b286-c6e23e1124bc CLINVAR:465141 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 670d949f-ca6f-44b6-866b-76ff6d65b4ac CLINVAR:465141 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 342feb4a-6b64-405d-a4a2-c2823efa86dc CLINVAR:3066434 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 24b7172f-4222-4d27-b987-97a53e49fbe6 CLINVAR:3066434 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1eda0e09-430f-4808-9e3d-48c6d4d5ab57 CLINVAR:3066435 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6cce0901-73fc-4099-b2b1-2596290ac7b6 CLINVAR:3066435 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fac57b70-fb7b-4878-8f55-1c41325e3df2 CLINVAR:2583101 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b8d8c7d-9e82-48fc-b983-85586d6d3252 CLINVAR:2583101 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 90698190-ea12-4c76-b211-8468eff77dd8 CLINVAR:11698 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c3fd03b2-c464-418a-8b12-c6367e50d530 CLINVAR:11698 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1aaf0038-d59f-446f-b5f2-5637bc06b3b5 CLINVAR:2583102 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8b2fb04c-365b-46b3-9f1b-d04dfbd99c0c CLINVAR:2583102 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c0e1f360-53ff-4e09-ab6c-eacb9c540fa1 CLINVAR:3066442 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3504cb76-a9f0-4063-be59-7bb26065e730 CLINVAR:3066442 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 72e47f6c-7c71-45f7-b893-11b8b59c8912 CLINVAR:3066450 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ae1ba146-837e-4d82-a1bf-b3ae2077c251 CLINVAR:3066450 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2da0213-faa0-4c36-96ef-aff3c37935e8 CLINVAR:3066451 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56ffd5ab-5280-4e0b-bbeb-4a7fdf122f87 CLINVAR:3066451 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5d632a5a-34e7-4765-bdd0-8b4185472cdb CLINVAR:3066443 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7532335-3b5d-4266-8869-8ff136207fd2 CLINVAR:3066443 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68d6f069-6b05-4076-a105-d9a91429f286 CLINVAR:3066452 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2a10d376-94e3-44a3-bc88-8d2a0597e19f CLINVAR:3066452 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 60e374d7-84a0-45b1-9292-f40d193bf8f1 CLINVAR:3256149 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc34f3a5-3f13-47bc-b287-dd86a5301a95 CLINVAR:3256149 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 5666f8d9-fdb3-401d-82ce-04b27017acf3 CLINVAR:666588 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b6ee28c-6e25-41a4-bdbe-72fd15c46c76 CLINVAR:666588 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2156e1bd-a352-4db7-ba6f-1faf7ac595b3 CLINVAR:804101 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cb37f72c-8c13-4cdd-9e7b-e00ff16b624f CLINVAR:804101 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 35ce5aca-915b-49e6-a0a2-6ef37e7aff92 CLINVAR:3066453 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c49f8618-3853-4629-8ccc-ae4b1d28f2c6 CLINVAR:3066453 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2758d306-7b1d-4fa8-83f7-e4593e5a4ade CLINVAR:2583103 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54ef7666-0c0e-4308-925d-be8a7a3faf4e CLINVAR:2583103 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b4ff84fd-34c4-4527-b6b5-7377163387a3 CLINVAR:1802549 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd45a405-bbd6-4e91-8c5c-d81d16c21667 CLINVAR:1802549 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3d0f366f-bc7c-439d-bdd2-8e4fbf893d12 CLINVAR:3066439 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a4cc1d3-4c0d-43b0-a451-a968604e3e51 CLINVAR:3066439 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d5cb503b-8df7-4fa8-b0a5-ffbde17ec036 CLINVAR:2583093 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47c5997b-29ba-43dd-a45d-efa62f39b9c6 CLINVAR:2583093 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aba6c26d-209d-4a3e-ac25-2b948cdbaf9a CLINVAR:11704 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4733b1b-529b-4d35-b79d-e3f37ee3fad4 CLINVAR:11704 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5de2f6f2-01db-4fda-811c-a1f680d22b3c CLINVAR:2683730 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a895db59-f7b0-4c27-a828-01584e95eae1 CLINVAR:2683730 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 88d989e8-2a8d-4821-bb4c-b0644f557847 CLINVAR:2683734 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4920cbac-affa-460e-bd3c-9d341a26c8f6 CLINVAR:2683734 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel eb86eddd-bbab-47da-8365-6511f2ec403d CLINVAR:1703957 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f771ce8a-09d8-40f1-aa03-92ffd536630b CLINVAR:1703957 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c15cd6fe-bc02-434e-9e42-1d402d7332c0 CLINVAR:11696 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3f257258-62f0-450c-bd4d-f273cd8187b4 CLINVAR:11696 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 56069e9b-1c05-44d2-b141-5d5acd7f8a6f CLINVAR:2583094 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ad9aaff2-cccf-454a-ad5f-4c318eb2bb86 CLINVAR:2583094 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 649d735b-5cbe-4615-af4f-000e078c8ef9 CLINVAR:2583095 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4002bbed-b71a-45c2-a6fc-b8d31bbdc69f CLINVAR:2583095 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b3a6a56-8958-48cf-b999-08982f1a4cdc CLINVAR:2583096 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d308e38-dae3-42c7-acd2-76092d402e08 CLINVAR:2583096 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4f176add-8f13-450f-bbbe-37daf00b3542 CLINVAR:65692 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bec02507-d24a-4123-9113-c73a12993c0f CLINVAR:65692 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5846ee47-8ff3-4082-8ffa-d85972e1f176 CLINVAR:65693 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5992c20-29d6-4233-b7aa-fa4480ac3705 CLINVAR:65693 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel aaeb0eb3-9ef5-4785-92fc-c3d8fabfd786 CLINVAR:2683735 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 953247d3-6b93-4f09-999c-75b3ffbbe0c0 CLINVAR:2683735 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 057a453c-67a9-4243-bacd-51818f90683e CLINVAR:2683732 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0e599889-7469-4d3c-8649-728b06011f7b CLINVAR:2683732 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fe313ed7-5499-480f-853f-7b79f333eb3c CLINVAR:3066425 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1f8a5eca-4a96-434d-98a8-d9ff6c89960b CLINVAR:3066425 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1b061710-a364-4487-bd1a-50e77e818290 CLINVAR:3066426 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74527eac-d2b9-49cf-a5bd-df82a2ba5b9e CLINVAR:3066426 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 255ce89b-ade9-4370-886f-7a438983901e CLINVAR:2683733 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ca408988-1d37-4f01-a059-bbeccb556c43 CLINVAR:2683733 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f2e7f4dc-138a-4335-83bd-bd633135ba01 CLINVAR:3775039 biolink:is_sequence_variant_of NCBIGene:6535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bde529f9-e179-4875-a635-bef9230e14f2 CLINVAR:3775039 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 05c5640c-81eb-4b06-b0ac-b4eae5d1c42e CLINVAR:143490 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 87637632-c326-4c14-ab9d-2df22c36200c CLINVAR:143490 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7c943925-8d10-4982-acd8-18e020eee1d6 CLINVAR:143485 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 330bfaf9-2023-42c6-a788-460c5978c567 CLINVAR:143485 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 796efc6c-3170-4e9a-8d21-1cebc6edeae4 CLINVAR:143406 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 13d63456-4c84-456d-91d0-e17c32a19230 CLINVAR:143406 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1aa14bd9-dfc3-442c-9e23-93c3687cca5d CLINVAR:143345 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e923a866-bfd6-401c-951c-4221bc39b955 CLINVAR:143345 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ac68b8b-70ad-47f8-b619-01fb28f0d2d7 CLINVAR:189732 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5eb7ae7-9167-45ea-91aa-f6601298b271 CLINVAR:189732 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 64a056da-92ff-4ade-9452-25d2ada16145 CLINVAR:143754 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar efaa6d45-1d71-420e-9fbd-26c63bce8ad4 CLINVAR:143754 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b1af06a4-41c1-4564-a4df-ee572123b5a2 CLINVAR:143749 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03cd9b8b-0085-426d-a8d3-699556a741ab CLINVAR:143749 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 63025fef-ff48-4ed6-b180-394fb524825a CLINVAR:11824 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c53f91c1-8127-48bb-a721-51a80acc4291 CLINVAR:11824 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 528054a4-f04a-497f-9edc-d51677b13332 CLINVAR:655729 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9c31e76b-d9bd-408b-8725-5814f0d2a203 CLINVAR:655729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c9adff27-a154-4107-890a-2818abb3796a CLINVAR:143743 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar fd7171e6-aef8-404d-9373-7034c45196c2 CLINVAR:143743 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bf5585c2-d4b3-4dff-ae97-074c77a57712 CLINVAR:143742 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef6f9c37-cdd0-49ee-a8c0-706c9ec689f4 CLINVAR:143742 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8fbe6b2e-3b22-4e9c-a761-8c2d10cf08f2 CLINVAR:143738 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 736ec495-ec40-485a-8fab-6970f475950b CLINVAR:143738 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e5911c63-2f83-4391-85b0-509765665dda CLINVAR:11819 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a481807f-d954-4f7c-8857-30880c3bb6cc CLINVAR:11819 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dc3703b4-5427-434e-846a-8c23d327aa94 CLINVAR:143710 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7eda55be-8ef4-46a0-9ec2-cf86abb3105e CLINVAR:143710 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 83465d3b-2245-47c6-8cff-4f78c4820e6d CLINVAR:95202 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2c2686df-b458-4f98-9850-df53c85b75fa CLINVAR:95202 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e6e2a9e9-2631-459f-9886-256585683ad9 CLINVAR:2229884 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1b4e04cc-88ce-4f07-8e64-f02780dad014 CLINVAR:2229884 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 26b5c3c0-1bb7-478e-80eb-2f47c0c75dcf CLINVAR:236302 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 019ea707-a6a4-45ec-9644-9f8aee6f0c0a CLINVAR:236302 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ca637595-e94a-4613-b3a1-19fa256d1c5e CLINVAR:143603 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05e7cc01-118a-4fc1-ae0d-ffe2d6491f31 CLINVAR:143603 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 822a6b36-9ebf-4590-9041-f23c681e71f8 CLINVAR:143590 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8dd4b283-526d-4cdf-9f4f-e79da74b5acb CLINVAR:143590 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7d9101d5-a133-4222-b74c-7e5357534290 CLINVAR:143589 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar baa834b6-dc63-4ce9-983f-3e2509835430 CLINVAR:143589 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 01519182-97ac-4ab9-8980-69f31ac6f27e CLINVAR:143585 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 152cf8f7-556e-4aa0-b309-412fe9f8e84d CLINVAR:143585 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 85418954-d037-4914-b4af-e6df9d9f1e86 CLINVAR:143583 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f33a27c5-2d7b-412d-99a8-2641b3c237e4 CLINVAR:143583 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b43a5bbb-fb36-4434-b40a-c32cefff3125 CLINVAR:143579 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4e52aa3f-d8f9-4783-ab59-f55fe07a5663 CLINVAR:143579 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9562d94d-14f6-490a-a91d-6cf5caefff1e CLINVAR:11844 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6850c8fe-6cb5-41ec-9f99-0170ca6c4a1b CLINVAR:11844 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9e345236-c02b-4329-b18d-11682085bcbf CLINVAR:143578 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 53342e30-f6c5-43af-81e6-323ff9107733 CLINVAR:143578 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e1190bca-4b13-4136-b4b7-d865fdc84407 CLINVAR:143564 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8bdec464-773d-44ee-9079-d134c0458937 CLINVAR:143564 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c5ac081f-b702-40c3-825c-1156a0dbde3b CLINVAR:143563 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a5b21e1-6bc4-40e6-b478-fa4ce78c15f3 CLINVAR:143563 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1ae3e08d-589d-45f1-80ab-73c71ec95d80 CLINVAR:143560 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a11a82bd-c3e9-4891-9f3d-ef57acff72e4 CLINVAR:143560 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 2b431caf-87b1-44b3-9a26-2394f1cc5acb CLINVAR:143559 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 91d405f6-0294-49a7-be0c-cd5a41801b09 CLINVAR:143559 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ac790302-849c-4a09-ad3d-83fe9dd7fad2 CLINVAR:11809 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 39108c00-0d02-4054-bcea-79d34bc61873 CLINVAR:11809 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d6237b55-9537-4701-a055-be652852052c CLINVAR:143556 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 233e81d3-728f-46ba-99fb-1a41c6c08fa3 CLINVAR:143556 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a213f598-ab30-4b39-8935-b0098e2e89dd CLINVAR:143552 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c1334eb4-77f4-463b-b625-c1613771067d CLINVAR:143552 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cb168516-5b2a-42ff-88f7-a798fea809ab CLINVAR:156068 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 350ca2ad-6ec1-4123-8de1-bd3701d9db6c CLINVAR:156068 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 70a5fc96-0b96-4549-a58a-7c51e0e7bc55 CLINVAR:143550 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3be2cb2f-59b5-4d59-94cc-86fc1c1673bc CLINVAR:143550 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b7be6d65-4c30-487c-9fd9-467e25a661d9 CLINVAR:143549 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 623206fd-2616-41c3-a8e8-f43212dc6ba1 CLINVAR:143549 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7fd4a085-86d5-4941-82d9-c59fed241b71 CLINVAR:143546 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar da99ed76-6e98-45ae-9820-0b79def3a50d CLINVAR:143546 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f99eede7-ba06-4657-94c9-06f42b90201e CLINVAR:2505626 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1187f430-9180-469c-a5ef-b96de0e6515f CLINVAR:2505626 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ef4dcfa8-3749-479f-9ee4-38e7190be108 CLINVAR:143526 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cdc6d06f-d57e-4b05-9e75-7ac5da8d568f CLINVAR:143526 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f891eb06-2ec1-4de8-9885-f247e9887814 CLINVAR:143524 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7b49cf37-1a0a-43f2-abcd-ad38c346f056 CLINVAR:143524 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cc3a4554-5aba-4534-92c9-312a0865dd64 CLINVAR:11835 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8765b12d-c0b8-4259-8f03-9170e882e517 CLINVAR:11835 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel d0178071-5532-47d9-b0fd-cbd54508aeaa CLINVAR:503729 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e7383c41-a3fc-4b5f-934f-44ce0232fcf3 CLINVAR:503729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8261e6e7-a3ec-4bdc-a05e-1f0f321dca45 CLINVAR:189776 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ceea9627-8d7d-4662-bcce-b1ae121b25d7 CLINVAR:189776 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f5100fe0-7df5-4391-b7ae-5ae8dfcd095d CLINVAR:156661 biolink:is_sequence_variant_of NCBIGene:4204 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d6c8a84a-46dc-418d-a5da-99605b6ba549 CLINVAR:156661 biolink:is_sequence_variant_of NCBIGene:130068854 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f0ec422c-5f78-4e48-bee6-ddce789b3eb2 CLINVAR:156661 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 52c7b124-4569-432d-9c4d-8bf639d16ebd CLINVAR:3387785 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 70bdd79d-84a0-479d-8490-9a89d02072cc CLINVAR:3387785 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a30c0378-78a3-49d3-8517-41c5d2f6f50d CLINVAR:993916 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af740549-625a-47d7-a489-0440477d6657 CLINVAR:993916 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 730db162-adba-4c77-b52a-757b2a6e6234 CLINVAR:3242381 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ca4e96d-35e8-4563-b8a8-4ffd75bbabf4 CLINVAR:3242381 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 68217ad3-2715-4868-98ef-63ac58b28a93 CLINVAR:10085 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27ec2818-af5a-4ee6-a6cd-3949371db741 CLINVAR:10085 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1c5e6679-6a8f-4349-91ad-8a8f6e6a1580 CLINVAR:4849524 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b6bd9c90-0b0d-459e-95f6-cc39c1c1f807 CLINVAR:4849524 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd82a23e-acc6-43a7-a284-5623a4729403 CLINVAR:10327 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ef3b3c88-46bd-4f4d-8e1f-fcc78a9326fb CLINVAR:10327 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1a0eebeb-0c11-46e8-84b8-b02be029f454 CLINVAR:1029498 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c5a793dd-7cfe-467e-9410-e680fc3d6391 CLINVAR:1029498 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ae1cba28-90fa-4187-924e-bdb26ded1b04 CLINVAR:368117 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 78a6471b-3307-4baa-927e-8aa6c979b462 CLINVAR:368117 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f2453d2b-9638-4052-aeef-81f9ff0e5c67 CLINVAR:811219 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar edd962fd-8633-41ef-a58f-073fb08556ea CLINVAR:811219 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 10ddfec1-5f26-41cd-ac79-abd3edaaa1cb CLINVAR:4538569 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 924da8b3-8761-4002-8c2f-5cf09f2d7c0b CLINVAR:4538569 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4f941a9b-4f2f-4b9f-adf4-d97b0b94ed12 CLINVAR:2775450 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6039c54d-bfa0-4a5f-8762-328278b007a4 CLINVAR:2775450 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3ab6b488-08b3-4acf-a5ce-8ec219fd21f3 CLINVAR:1163208 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar afefe17e-bc28-46f6-a1da-f7524a870ba5 CLINVAR:1163208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 02c6bf8b-e92f-448c-afe8-1c865c478d71 CLINVAR:10304 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 75f1d2c6-83f4-4d0c-92ce-1f6a04cec5a7 CLINVAR:10304 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel c2b01821-0851-4681-b521-11af4a1bb9c7 CLINVAR:10294 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bd511a09-c9fa-4821-887f-326c23ee0295 CLINVAR:10294 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 516b32f1-d587-46ff-bc8b-f00354c9b52b CLINVAR:2775447 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 161eb990-7842-43b2-95d9-8cb563da2ad7 CLINVAR:2775447 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ca4eb048-440a-4f04-801b-f30b706eeda5 CLINVAR:10274 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6276ec0d-78e9-4771-8139-c86379e298e1 CLINVAR:10274 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 68e2917a-1c3e-4fa4-8963-544a1a4b04ed CLINVAR:627328 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 608fc95c-c91b-4ea3-a522-e89a1bbe1aee CLINVAR:627328 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel b4a45d2b-1bc3-46e3-b42d-45c24741d643 CLINVAR:627324 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 192a5b05-f9bf-4346-aa7d-2020a7620deb CLINVAR:627324 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7fff0458-3c7b-4f6a-846b-09c13b7374da CLINVAR:439677 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80f8e71e-ccc7-45e9-bf5f-efaf837a0271 CLINVAR:439677 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7c121e7d-1dd0-415e-824b-fd31fe60b77d CLINVAR:10256 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 327d9752-f88a-4fac-817a-447a66e9b4b7 CLINVAR:10256 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ba26c4bf-d6d4-4932-9410-cd044f8ae269 CLINVAR:10253 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c601ec3-681a-48e9-a42d-c3d35cf34717 CLINVAR:10253 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a6eac4b-e53d-4d85-a506-479c3020e293 CLINVAR:10247 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f4b8d457-1a5c-4c00-b465-990d0e9db619 CLINVAR:10247 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51ab1b59-56eb-4260-9fd3-3b3b8d8e2a1e CLINVAR:2691907 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b209e96-e933-4447-9f87-67f95563beb1 CLINVAR:2691907 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8e59e022-6738-443e-8a81-b34a2d2517eb CLINVAR:2775445 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d68a66d-3d51-425d-a82f-a89fd2e63986 CLINVAR:2775445 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51ead185-d316-4c9b-8d93-00568b4b9c1c CLINVAR:2775444 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 088e4da4-5046-4a59-ae86-ae1637865476 CLINVAR:2775444 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f6589853-2eba-41be-8994-0f77153d9cbc CLINVAR:10236 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a41ad605-fef5-4829-a789-e8def1b21f47 CLINVAR:10236 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 085c0b4f-74e5-4488-a701-c9490f12c4e3 CLINVAR:4087776 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 074388a3-4df7-4508-b81d-02be5ee1d1a4 CLINVAR:4087776 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9a3f4398-0ea6-4798-aef8-a15db2cbe50e CLINVAR:10232 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 97df2eef-c36f-478f-88c2-d58fbfe15797 CLINVAR:10232 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8ee3cf4b-ae8f-4857-83f3-13c90658237d CLINVAR:2775448 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b3d3dfc3-3838-444c-b902-a39ebda631b6 CLINVAR:2775448 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 45e71594-9bac-4307-b768-93998a290d26 CLINVAR:10226 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 43de8026-b5c0-48f9-a77e-7d91ad562a8c CLINVAR:10226 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 945ac5fa-8c30-45eb-8be2-8fb56e60e27e CLINVAR:10225 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a2c11916-7525-4025-9eb3-cb8908ac5136 CLINVAR:10225 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 1eccea5e-bf0d-4618-adfb-b49ef2cd277d CLINVAR:3775065 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5345b7ff-9453-4524-b3d3-c842b861b877 CLINVAR:3775065 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 361b3746-ae74-4469-8e6f-fb73805368e6 CLINVAR:3775067 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar bc742ace-f9e8-4961-88ae-ebdcea0e0367 CLINVAR:3775067 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a0c21daf-dd5c-40e6-a586-322a268b4917 CLINVAR:3775068 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b92bb544-ede9-409f-bdff-f2b76bea3744 CLINVAR:3775068 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 590f4830-2ecf-401c-ae3b-65f8cca36b42 CLINVAR:3358854 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9e99c3e6-e336-43a1-8cf1-8649b11d4593 CLINVAR:3358854 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f1512fb5-202d-496e-9470-59c62b6d4082 CLINVAR:2775446 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 718e29ce-32e5-4007-8f8d-b0931d2d732c CLINVAR:2775446 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 442910d6-f4f3-4768-8509-a60fcba77113 CLINVAR:3390359 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 56781ecf-40f8-488c-a650-96d42bfb6430 CLINVAR:3390359 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e20fa527-4761-4d3f-aebf-5a73eadaf470 CLINVAR:3242380 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a466cb2a-40cc-4dbd-97be-d02067e7608c CLINVAR:3242380 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4d796b0c-c7ed-4f5b-adab-df2605761e6e CLINVAR:10208 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a04a8e5-b44d-4903-98f1-cc3767550f63 CLINVAR:10208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0b9d155e-e3d9-4693-884f-dbf5de26b153 CLINVAR:3390360 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 33dfae1a-01e1-4f9e-9c73-9091409c9204 CLINVAR:3390360 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a578ad8a-3144-40f0-8c8b-8640b69589db CLINVAR:618104 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0df291fb-64b0-49b3-a418-8df04d5f35ca CLINVAR:618104 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bd16f47e-7146-49a4-ad64-fc904e918c5a CLINVAR:10139 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38ea223f-23c3-46f1-89e4-d226db3a8166 CLINVAR:10139 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fce934e1-ada9-4252-bef7-a7ada0c83450 CLINVAR:666959 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e495b1a7-bed5-4174-ad64-a811b926ab85 CLINVAR:666959 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6fec4e82-e646-4b0e-abb1-812ef1652f6c CLINVAR:10199 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3004ab5e-2161-4925-a8d2-bfb01eae90c8 CLINVAR:10199 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 75208282-7e00-4ce4-a08a-b13082a73a0d CLINVAR:4087775 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 46325abf-1ad3-4626-a7b1-2e6e10b54e15 CLINVAR:4087775 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 09f3699e-2ad4-4538-aa32-4071c7165a48 CLINVAR:627165 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9283122e-5511-4a04-ba14-226d1643000e CLINVAR:627165 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel fb2a7a6c-61c9-42c6-b04e-e968ad35b530 CLINVAR:10195 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11de2424-bbb4-4f5d-a052-063bf8682a63 CLINVAR:10195 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 57ba0b06-fdaf-4972-915f-2f5d4dfcb5ea CLINVAR:3390361 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5c56ea95-aaa0-4042-8432-a0caa0118048 CLINVAR:3390361 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2838cfa7-355d-4093-9834-0aac89ac5563 CLINVAR:618107 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7801270a-c472-45c7-bccc-7926f86993ed CLINVAR:618107 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5b8db97f-ca88-470b-9bd5-2bde8c503df5 CLINVAR:2775449 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ecb8ee2-a51e-4e2e-85ed-73cf8582e0e6 CLINVAR:2775449 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 05fd5553-4c7c-42ac-912e-98925734831f CLINVAR:449370 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 186174ff-1492-4dff-96ae-928956851619 CLINVAR:449370 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 94327e39-4fc9-4449-b279-588b9779da90 CLINVAR:3338831 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a90b642b-e224-4f29-8de5-4b8c76ce123b CLINVAR:3338831 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b2e293fa-e517-47b3-883b-51b88f3c9514 CLINVAR:4538570 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4f1bfe32-e035-4c0c-a1ef-778857f54b0d CLINVAR:4538570 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8b4173d9-98b2-4c8a-afdd-4b5595c72c03 CLINVAR:10167 biolink:is_sequence_variant_of NCBIGene:2157 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8857546b-879d-442b-9faf-55ae8cb3afb3 CLINVAR:10167 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0cfeb25f-1c4e-4191-84d0-078151fb3b56 CLINVAR:1177637 biolink:is_sequence_variant_of NCBIGene:4558 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 52b69b88-3fb0-46e9-8cfb-ced52d9566c5 CLINVAR:1177637 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5687df32-5b9f-44be-81be-a9fff962c429 CLINVAR:9576 biolink:is_sequence_variant_of NCBIGene:4558 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d7cf5c30-f6fb-43a9-9f66-45933c52f268 CLINVAR:9576 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6d0d8736-4be8-4440-981c-6dcddd92cf7c CLINVAR:9632 biolink:is_sequence_variant_of NCBIGene:4549 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 71b1d37f-4054-4c8f-9af4-e67b18f956b8 CLINVAR:9632 biolink:is_sequence_variant_of NCBIGene:4574 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 111d7cda-af63-4dfa-aa1c-e0ef0a383813 CLINVAR:9632 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1b15554c-abf0-42dc-9696-5d1f29f594cf CLINVAR:9628 biolink:is_sequence_variant_of NCBIGene:4535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0bf3f2ff-cf04-4f3e-91ff-a4c095b4285c CLINVAR:9628 biolink:is_sequence_variant_of NCBIGene:4549 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 478896d2-30d5-43b0-a7e7-26b76e80b9ea CLINVAR:9628 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel cfe432e4-6115-4baa-9962-f14d693c4ede CLINVAR:9549 biolink:is_sequence_variant_of NCBIGene:4577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 27839a61-d514-4445-9bbc-261e20fa2b55 CLINVAR:9549 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4a464c28-1aa2-4fe6-884f-624ddf4c2d7c CLINVAR:689846 biolink:is_sequence_variant_of NCBIGene:4577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a493145-5423-4899-94c5-0f718c98ab14 CLINVAR:689846 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2389156f-f292-4752-a670-3343c3e36e58 CLINVAR:9600 biolink:is_sequence_variant_of NCBIGene:4567 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 457b3f56-dd39-40c0-b904-ae4d7df71f01 CLINVAR:9600 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6a9225c3-9cea-4e03-a1e5-efa425063453 CLINVAR:9589 biolink:is_sequence_variant_of NCBIGene:4567 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ffee7fea-e26c-4bc3-ad94-6dccc1d29526 CLINVAR:9589 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f83ac84a-8d8b-4c68-a562-37a3a02556ef CLINVAR:689856 biolink:is_sequence_variant_of NCBIGene:4567 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 390f4ced-0c21-411c-980b-c82fd502fe90 CLINVAR:689856 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b20f3cb1-5b90-4fc0-acae-338fb498b1cd CLINVAR:9595 biolink:is_sequence_variant_of NCBIGene:4567 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06039125-df0e-4488-84f6-f1f1a7cb034b CLINVAR:9595 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 56532652-eb6d-437a-ba53-056af1dc4206 CLINVAR:9594 biolink:is_sequence_variant_of NCBIGene:4567 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 7a69a0ad-10ff-414e-a605-e012c169e71e CLINVAR:9594 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 09ee08d6-8bfc-48b6-b7ac-7ca2d8de9a67 CLINVAR:689861 biolink:is_sequence_variant_of NCBIGene:4567 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8798140e-017b-42ef-835b-dacc6cb73c39 CLINVAR:689861 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 61f5bd60-f5f3-454c-a11c-a4d90254e444 CLINVAR:9591 biolink:is_sequence_variant_of NCBIGene:4567 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e10ce00d-ce02-4377-8e49-c000a26b0b35 CLINVAR:9591 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 53f850d8-c894-4e40-8aac-e5cc2d08dbac CLINVAR:986454 biolink:is_sequence_variant_of NCBIGene:4567 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d11fe213-3a54-4444-b4db-45a79b03a73f CLINVAR:986454 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3a09a37c-2c82-4661-93b9-14968ce3d26d CLINVAR:9596 biolink:is_sequence_variant_of NCBIGene:4567 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 68979151-154e-49ec-9c06-758ff72ef9e6 CLINVAR:9596 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7c4f3953-5f85-4eb4-bd6a-e222cc3ac43e CLINVAR:9590 biolink:is_sequence_variant_of NCBIGene:4567 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 59dfb676-cca0-4ad0-9392-fb7c22120628 CLINVAR:9590 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 58d137da-2bff-451e-abd2-d2cea8ed4ea8 CLINVAR:223247 biolink:is_sequence_variant_of NCBIGene:4535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93e79764-7417-463b-a7d0-6fd49432bb3a CLINVAR:223247 biolink:is_sequence_variant_of NCBIGene:4567 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c80eaabb-2be1-4088-a5de-6be832063749 CLINVAR:223247 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3ad53d33-447f-4c49-a40b-3d4a957fe719 CLINVAR:689871 biolink:is_sequence_variant_of NCBIGene:4567 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar adb7b140-1130-4cc1-a96d-5396f0a4d57e CLINVAR:689871 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 720b2158-e6e4-487f-8c50-471741207e24 CLINVAR:9592 biolink:is_sequence_variant_of NCBIGene:4567 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 05bd8d1c-079a-4153-a378-859a6b80aea1 CLINVAR:9592 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8d420e6f-1050-4a5d-960c-972ca5bfee55 CLINVAR:9722 biolink:is_sequence_variant_of NCBIGene:4535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ddd7300c-83df-4b85-93a9-e04949d32046 CLINVAR:9722 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 8aac22f8-2d18-4c70-9b4d-ac55ffd2d212 CLINVAR:692374 biolink:is_sequence_variant_of NCBIGene:4535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar cef85342-52d6-4902-becc-d62182eb5217 CLINVAR:692374 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 80adef3a-fe84-46e0-bd8f-16fc7ca753e2 CLINVAR:65518 biolink:is_sequence_variant_of NCBIGene:4535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3a74d169-a5e0-4744-a8ab-2bc5a8ab7e7b CLINVAR:65518 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ee1e35c5-1c38-4b59-abf2-a9100f34b5bd CLINVAR:3774391 biolink:is_sequence_variant_of NCBIGene:4535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar deea175d-fed8-422f-ad96-35f1d1313d48 CLINVAR:3774391 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e2358c4d-f41f-423b-9945-a43c13c79b3b CLINVAR:9733 biolink:is_sequence_variant_of NCBIGene:4535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3729b0ba-cea4-40e9-a2f4-f9642db2d486 CLINVAR:9733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f49111f1-28c0-4452-bde2-784aee6d206b CLINVAR:800504 biolink:is_sequence_variant_of NCBIGene:4535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3611f025-b8b2-4e1e-b039-403b1bb66c7f CLINVAR:800504 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 13441797-6ba2-4fc7-b97a-9d8e45c72c34 CLINVAR:155881 biolink:is_sequence_variant_of NCBIGene:4535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 503acd13-a460-44c2-8f08-5fe11fb310f9 CLINVAR:155881 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8ca28d29-544d-4211-964c-99733a6ce684 CLINVAR:9731 biolink:is_sequence_variant_of NCBIGene:4535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 640aa74d-c203-45e7-95b3-f889da2921a5 CLINVAR:9731 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8e25edc8-3ded-484c-9ed5-64dfd934e62f CLINVAR:9734 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d74c35c9-bde4-45a6-8cc0-d945776f8039 CLINVAR:9734 biolink:is_sequence_variant_of NCBIGene:4509 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 651156b5-1c36-4ebe-a5c6-ad6bbf204e2c CLINVAR:9734 biolink:is_sequence_variant_of NCBIGene:4511 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49afc567-cf4c-41d5-a6be-4369bb6049e9 CLINVAR:9734 biolink:is_sequence_variant_of NCBIGene:4512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8cdeb7c3-a979-4bbc-b9e2-1e4b064bc10d CLINVAR:9734 biolink:is_sequence_variant_of NCBIGene:4513 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b39b354a-54eb-45db-a2cb-a41d3e5c616b CLINVAR:9734 biolink:is_sequence_variant_of NCBIGene:4535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5ad8901d-369d-4f6d-be57-1af80e84d0d6 CLINVAR:9734 biolink:is_sequence_variant_of NCBIGene:4536 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 61c7a8c9-ace2-44ee-a5ae-8421c9dd9edf CLINVAR:9734 biolink:is_sequence_variant_of NCBIGene:4549 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d8d1248-0d89-403f-b146-5377c23041d4 CLINVAR:9734 biolink:is_sequence_variant_of NCBIGene:4550 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f70f006-b02c-444b-ab45-18aa3259efde CLINVAR:9734 biolink:is_sequence_variant_of NCBIGene:4553 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b0ace49f-319c-4340-90d1-f9072dbe3ff5 CLINVAR:9734 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 48932cae-866a-40e0-904c-c5018cfb0c82 CLINVAR:9606 biolink:is_sequence_variant_of NCBIGene:4565 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8c891974-bbf6-4b4f-b251-39db0445ba03 CLINVAR:9606 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 96eaeea9-ecb2-4195-a87b-44dfa2edef81 CLINVAR:986440 biolink:is_sequence_variant_of NCBIGene:4569 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 47bb115e-df69-4541-9c25-92822954c88f CLINVAR:986440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1b294cce-3b5e-4168-9201-67ffde2aaff2 CLINVAR:9720 biolink:is_sequence_variant_of NCBIGene:4536 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8ccbbebc-03aa-4e5f-94d0-af49ce6eacc5 CLINVAR:9720 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8f391e55-b671-48f6-857a-36ba0fe13fa4 CLINVAR:9556 biolink:is_sequence_variant_of NCBIGene:4578 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d48d9a36-92a9-45a0-8c92-d2a84a5d5f5b CLINVAR:9556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 08fb6862-fea8-4116-a138-4d0ea2f6c4ce CLINVAR:689929 biolink:is_sequence_variant_of NCBIGene:4578 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 49c4c815-a8bb-4145-a4ce-12f62f7d0b52 CLINVAR:689929 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a1e2ac32-8e17-4cdd-a541-edf2bed5be71 CLINVAR:30007 biolink:is_sequence_variant_of NCBIGene:4578 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 90fc8a2d-4b2e-4ce2-909f-c72507813939 CLINVAR:30007 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1363babc-c9a5-4cf1-b8ca-d7589c46ad95 CLINVAR:9624 biolink:is_sequence_variant_of NCBIGene:4553 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 16a4a44a-9ae7-4fb6-9ac4-5a6db6b8acaa CLINVAR:9624 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b4d67b4c-5481-4ddc-a940-0c589fd26c6b CLINVAR:986477 biolink:is_sequence_variant_of NCBIGene:4570 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0b826164-4a3f-4c67-9022-7de1b872fc10 CLINVAR:986477 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 62d3cee9-2de5-44c1-bd07-d21327c9da21 CLINVAR:9620 biolink:is_sequence_variant_of NCBIGene:4570 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1fec73b2-95d1-4b04-a575-4de9145559eb CLINVAR:9620 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 42a5f6d2-4898-400e-b5bd-ac7254e4dd2a CLINVAR:9622 biolink:is_sequence_variant_of NCBIGene:4570 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ac5dbda9-2c77-497e-a873-8ee23054f900 CLINVAR:9622 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 0b04d59d-19e9-4da6-aaf2-4529e2800dfa CLINVAR:9669 biolink:is_sequence_variant_of NCBIGene:4512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 74b22b02-bcc5-410c-91d2-5b3792dd1aa8 CLINVAR:9669 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 95e696ca-4795-4b22-b77b-22bb92572fa2 CLINVAR:9668 biolink:is_sequence_variant_of NCBIGene:4512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1ad56d4c-0d1a-429d-a147-78f9465180d7 CLINVAR:9668 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 310db672-d5c7-4995-b995-a7b1748bea7f CLINVAR:9563 biolink:is_sequence_variant_of NCBIGene:4512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f6121379-edaf-4a3f-913a-57af75d9494a CLINVAR:9563 biolink:is_sequence_variant_of NCBIGene:4574 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 830e5cec-b81b-4eb7-ab0f-aedb04937b63 CLINVAR:9563 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 84dde9e4-9584-4047-9ceb-2d58298ed027 CLINVAR:869395 biolink:is_sequence_variant_of NCBIGene:4574 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b959642d-e52e-43b0-b224-eeb56b741aa1 CLINVAR:869395 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 31850317-7fd7-47ea-9184-c91e8b59d92b CLINVAR:42226 biolink:is_sequence_variant_of NCBIGene:4574 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3196c25a-4a66-4658-af76-b201185323f9 CLINVAR:42226 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel e3deb6b9-aba5-4304-87a7-75772c9cedbd CLINVAR:9569 biolink:is_sequence_variant_of NCBIGene:4574 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8e209599-42a3-4fc3-9d27-ae0024a22c24 CLINVAR:9569 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 4bfb0a5a-2eed-4986-a482-fbfd691ef4b7 CLINVAR:9565 biolink:is_sequence_variant_of NCBIGene:4574 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1d8fe753-a69a-4626-8a08-214e4482ca5b CLINVAR:9565 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9be8f22c-02e7-4ddb-ac1e-49429b47f7ea CLINVAR:9566 biolink:is_sequence_variant_of NCBIGene:4574 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 00403ef5-b21d-495e-bcde-ac1cda42d2b0 CLINVAR:9566 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d2d65730-b7af-4048-88b1-a6b61c16ccad CLINVAR:9562 biolink:is_sequence_variant_of NCBIGene:4574 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b70636c2-80d7-416c-a55a-58ad59e3fcd0 CLINVAR:9562 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 477ac7b1-1892-4893-a9b8-5e4ec8cf1b63 CLINVAR:9658 biolink:is_sequence_variant_of NCBIGene:4513 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 06694410-2889-4004-ab2c-ff27eb2f193b CLINVAR:9658 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 2b01a234-b2d0-46a3-9841-29f70d9ecb28 CLINVAR:9662 biolink:is_sequence_variant_of NCBIGene:4513 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar ec3951c6-4811-4fa3-96fc-1df3cb598730 CLINVAR:9662 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 51bb5ee2-aeaf-4aac-bc25-afdc0326f6f7 CLINVAR:488349 biolink:is_sequence_variant_of NCBIGene:4513 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1a950411-2230-4061-9c9a-a2bf9f3f0c85 CLINVAR:488349 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b79ea691-7bc3-49b5-b976-310a35acd907 CLINVAR:9583 biolink:is_sequence_variant_of NCBIGene:4566 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4954d0a7-7d0a-4172-b6c7-3b14ae4b4017 CLINVAR:9583 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a3d5577e-6693-482d-af40-888e676ff526 CLINVAR:986424 biolink:is_sequence_variant_of NCBIGene:4566 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 070a764e-124c-4edc-a174-04dd6545088a CLINVAR:986424 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 825d3e61-8a78-4c81-8f59-175bea0c8346 CLINVAR:9579 biolink:is_sequence_variant_of NCBIGene:4566 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 833d4969-086e-40b5-9c99-ce4dda2e92d5 CLINVAR:9579 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel bb8c9b2a-fc2c-45a5-8cc3-e27cbdd59b1a CLINVAR:9580 biolink:is_sequence_variant_of NCBIGene:4566 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4bbb21cc-99d4-43a2-b194-57662c20eb6e CLINVAR:9580 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 26c7232d-9621-43da-9d4f-cb3e3ea5bca6 CLINVAR:9581 biolink:is_sequence_variant_of NCBIGene:4566 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8f32c244-9c6f-445a-bf90-d97e0ed3ebf9 CLINVAR:9581 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel ab4810ba-d859-418f-a704-ea733211dcaa CLINVAR:9640 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3253d6f2-84db-414b-8979-9405baf6fc4c CLINVAR:9640 biolink:is_sequence_variant_of NCBIGene:4509 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 65324616-f671-4fa9-8ac6-454b0671cd89 CLINVAR:9640 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1d80dfe0-121e-4178-b9c6-c64bb0eb8b3c CLINVAR:9648 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2d0723b3-ac77-4828-9126-994eee4affa6 CLINVAR:9648 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b4ed4b8c-40c7-48f2-94d1-63a0f72d9f0b CLINVAR:191364 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f99a1415-dcac-49c2-b2a8-299d67b6fbc8 CLINVAR:191364 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5bcd7f85-251e-4dae-aa9a-1058f71a7274 CLINVAR:9642 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 63db80d1-1237-4c2e-9492-e8848324d5fb CLINVAR:9642 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel ee017f13-4515-458b-ba45-ecb8ed8fa96d CLINVAR:9641 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 93ec92f1-6f6c-4b69-861d-4c7a4eb07c43 CLINVAR:9641 biolink:is_sequence_variant_of NCBIGene:4509 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 67c4764a-b4b4-41c4-af03-8831bfee4bfc CLINVAR:9641 biolink:is_sequence_variant_of NCBIGene:4511 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b457e723-0dcb-454d-b7ea-e64f0bceabec CLINVAR:9641 biolink:is_sequence_variant_of NCBIGene:4512 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar a54bffc7-2011-49c6-9eb5-f35a4ea57588 CLINVAR:9641 biolink:is_sequence_variant_of NCBIGene:4513 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 38b470b4-248e-4f08-a076-1eba01d2b81f CLINVAR:9641 biolink:is_sequence_variant_of NCBIGene:4514 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d460cfc-7a5b-4959-892e-51f9a813c5bb CLINVAR:9641 biolink:is_sequence_variant_of NCBIGene:4535 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 4b6f80f5-2d56-4512-8acb-c0d65e9edf21 CLINVAR:9641 biolink:is_sequence_variant_of NCBIGene:4536 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f438c4d8-752c-49f0-a5ef-46c105e948a1 CLINVAR:9641 biolink:is_sequence_variant_of NCBIGene:4537 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 96397ae9-61d2-4149-87c5-bf2e31bdcfdc CLINVAR:9641 biolink:is_sequence_variant_of NCBIGene:4538 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 1e636988-1ae6-433d-a71b-1cbc51cb6d16 CLINVAR:9641 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a2d23451-7879-4ed8-93a8-246bd3bf9ab7 CLINVAR:693047 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 80a5aa1d-d107-4802-b1a6-ed037f614193 CLINVAR:693047 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9b4e0276-682f-4832-9668-15ea9399b51e CLINVAR:690280 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 485397fb-8a1e-4e81-bb76-b0e05e889e11 CLINVAR:690280 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5f090a59-a111-4b64-bbd9-88bff8c195a5 CLINVAR:986472 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 041aef7d-a0b6-4246-a515-6afcac635201 CLINVAR:986472 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 889f901d-c1d7-4f80-a213-164aae5d4975 CLINVAR:9644 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 256c4e36-42be-4aed-bb52-7e1e5cf7737f CLINVAR:9644 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 9be86240-06d2-4694-9ce9-aa7296fd71ce CLINVAR:9650 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 03c6366d-d83a-4044-8fd9-33c0034522aa CLINVAR:9650 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 03125876-387f-41ba-b1cd-5d06114c39a9 CLINVAR:9647 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42c2299b-2be0-41a5-8959-a9f043de98b2 CLINVAR:9647 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel dec770f4-585e-4fab-b991-d33373dae8b5 CLINVAR:40153 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ec89465-9dd9-4b0c-8832-526d53b81c37 CLINVAR:40153 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 269518b2-d22b-445e-b2f0-664bb5913475 CLINVAR:9646 biolink:is_sequence_variant_of NCBIGene:4508 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 776bf771-f282-46fb-8a52-5056dbd56f9f CLINVAR:9646 biolink:is_sequence_variant_of NCBIGene:4514 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 635d69b9-d890-4290-82a9-ed14735aff54 CLINVAR:9646 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 36986345-1f39-4ae0-acd6-7574365306e6 CLINVAR:9654 biolink:is_sequence_variant_of NCBIGene:4514 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e51b4a13-635f-43b0-bdec-955cdd206407 CLINVAR:9654 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 97d1fae4-8d7d-4cf7-9ac3-d63bdec4f6e4 CLINVAR:9656 biolink:is_sequence_variant_of NCBIGene:4514 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar f1fe06a5-b1ba-4a92-8ec1-4c076520a08e CLINVAR:9656 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel d57b4169-be7c-4f6b-9bf9-e6fb9404fd02 CLINVAR:9655 biolink:is_sequence_variant_of NCBIGene:4514 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b88f6609-1d41-4547-8d8b-378d292b3885 CLINVAR:9655 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 5ed437de-08bd-431b-8dd2-f74c8894e70c CLINVAR:9714 biolink:is_sequence_variant_of NCBIGene:4537 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 808f25db-7e3c-4949-87c0-ff6e9291d783 CLINVAR:9714 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a7d80b39-6c17-4e56-b303-d2170d0c583f CLINVAR:9712 biolink:is_sequence_variant_of NCBIGene:4537 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d5c5ed81-0ce2-42b7-ba81-fd2c49ef4699 CLINVAR:9712 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a91a5877-be65-4702-8370-be533ba74dff CLINVAR:9715 biolink:is_sequence_variant_of NCBIGene:4537 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8db8795d-6f95-43d1-85e1-21e996289fab CLINVAR:9715 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 3b17d06e-36b5-484f-aa51-c6d0bb0fdda1 CLINVAR:155887 biolink:is_sequence_variant_of NCBIGene:4537 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 6a6de4c1-efde-41c2-bb8b-1f099174aa6f CLINVAR:155887 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b348b0fe-6627-4440-992f-c9d583d50a4c CLINVAR:9707 biolink:is_sequence_variant_of NCBIGene:4539 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9fd2d585-53e1-4ba8-8b5a-a4f97dff0aef CLINVAR:9707 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 34f70b9f-17d7-4325-ac48-7aa7a237497c CLINVAR:9711 biolink:is_sequence_variant_of NCBIGene:4538 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar acced55c-1e3d-462d-8e3a-54c1284b3ef4 CLINVAR:9711 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 991cb0b6-719f-41db-ac45-31900835aa9d CLINVAR:9708 biolink:is_sequence_variant_of NCBIGene:4538 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 242276bc-da8d-42de-9f8c-b518185138bf CLINVAR:9708 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 7df0db20-9a94-420a-a28e-c9606e94a162 CLINVAR:9610 biolink:is_sequence_variant_of NCBIGene:4564 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar af0c50b5-05e1-4f61-b365-f179552b1be7 CLINVAR:9610 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 7f341930-c4e9-4e0b-8504-0e284a44aa61 CLINVAR:30004 biolink:is_sequence_variant_of NCBIGene:4564 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 731ebf62-ecba-4060-8eb3-d98f7391e055 CLINVAR:30004 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 390e1696-2ecc-4767-80bb-bff318e5274b CLINVAR:9560 biolink:is_sequence_variant_of NCBIGene:4575 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9d0dc3c1-92c7-4d78-8b42-90a0a19d5dcf CLINVAR:9560 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel c6f90280-8be5-4587-accd-04899aac72c9 CLINVAR:690181 biolink:is_sequence_variant_of NCBIGene:4568 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b30daa82-ce6d-455b-9866-227d82e5d1cf CLINVAR:690181 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 783ea513-f7ae-4d51-bd47-000135f615a9 CLINVAR:9586 biolink:is_sequence_variant_of NCBIGene:4568 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2e79795f-acaf-4b2d-a453-b101ae44b883 CLINVAR:9586 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 66164b23-9964-4f15-b9ed-553998066065 CLINVAR:693440 biolink:is_sequence_variant_of NCBIGene:4540 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5a2cee85-defc-4fbb-9d20-c0f575f3a603 CLINVAR:693440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6387e41c-5c6a-4fa9-a925-fe4918a20b75 CLINVAR:9698 biolink:is_sequence_variant_of NCBIGene:4540 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e426255d-e4b4-467c-95a1-f57923ca5b50 CLINVAR:9698 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 44ffe08e-d8a5-41dc-9309-897b51ee10d0 CLINVAR:9703 biolink:is_sequence_variant_of NCBIGene:4540 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 42336271-8843-4839-a6af-88fafeb86d7f CLINVAR:9703 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 1e6f38d3-1e6b-4aaf-897f-c6d6893e2ba2 CLINVAR:693512 biolink:is_sequence_variant_of NCBIGene:4540 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0d7cc731-8aba-43bd-89a6-cfe752c56398 CLINVAR:693512 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e4df5dd2-030b-4855-a2b9-5f3029d39fcc CLINVAR:693516 biolink:is_sequence_variant_of NCBIGene:4540 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0a289f20-f6a3-469c-ad98-4f843bcd6d05 CLINVAR:693516 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f2777772-dd56-4784-adf7-26b97c38a2f7 CLINVAR:9702 biolink:is_sequence_variant_of NCBIGene:4540 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar c57c050e-aee9-4420-a76e-255e2b78927a CLINVAR:9702 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel a916535c-7c99-45e7-b258-4e6981c9c517 CLINVAR:155889 biolink:is_sequence_variant_of NCBIGene:4540 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar b7964e40-0dae-473c-b14a-e4da2b5ef6fc CLINVAR:155889 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8eb6eba2-610b-4624-9da2-30414e27eae6 CLINVAR:9692 biolink:is_sequence_variant_of NCBIGene:4541 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0c9936ae-9411-416c-9b7c-86b7b9a2716b CLINVAR:9692 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 8f9520ff-e2a3-459c-96c8-b89117d10cff CLINVAR:9689 biolink:is_sequence_variant_of NCBIGene:4540 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 2efaaad4-208e-459b-b47c-74378bf99dfe CLINVAR:9689 biolink:is_sequence_variant_of NCBIGene:4541 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 0ece605b-d3cc-4501-bba9-ea3f0789d237 CLINVAR:9689 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 69911b78-42c3-468e-a458-22cc10ce964c CLINVAR:693726 biolink:is_sequence_variant_of NCBIGene:4541 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8d1a163c-9e87-4250-a4cd-72bd017ad2dd CLINVAR:693726 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b29fd555-97ff-4a36-ae45-6cc3d316e93e CLINVAR:9693 biolink:is_sequence_variant_of NCBIGene:4541 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 14f69756-12cb-45cc-b70b-79adf1fc725a CLINVAR:9693 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fb103198-a4ad-48fe-a0e0-6ff6cb25c951 CLINVAR:65513 biolink:is_sequence_variant_of NCBIGene:4541 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 25262fcf-b2ed-4176-9528-aa50e9fc9e51 CLINVAR:65513 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 9bbc36e4-e3cd-4c2d-8ff6-cdc2e8993992 CLINVAR:9688 biolink:is_sequence_variant_of NCBIGene:4541 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 3c5ab7d2-d7a7-4db4-9acb-e5e506ddaeb6 CLINVAR:9688 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel 13932837-15b5-413f-9557-ee8eaba6b977 CLINVAR:9694 biolink:is_sequence_variant_of NCBIGene:4541 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar aaf2a95e-b839-4431-88d6-5fa4b3a14278 CLINVAR:9694 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clinvar reviewed_by_expert_panel f39a6b48-4253-4d3d-9953-234f611c2e54 CLINVAR:9691 biolink:is_sequence_variant_of NCBIGene:4541 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar e5df029e-981b-4bac-b42a-af558a5399af CLINVAR:9691 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 73955b63-3ea6-405d-bfd4-c4be78b51031 CLINVAR:800503 biolink:is_sequence_variant_of NCBIGene:4541 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 69fc923b-dab7-4da0-b093-14915ff3d2a5 CLINVAR:800503 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel cc974cc5-d846-437a-8468-dec5a0e2ed2f CLINVAR:65515 biolink:is_sequence_variant_of NCBIGene:4541 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 54d198bf-5965-4109-a5af-ddfd6f1bcabf CLINVAR:65515 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel b8269dec-e52d-4f2b-88b7-be0d97b13fa0 CLINVAR:209173 biolink:is_sequence_variant_of NCBIGene:4541 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar d0e7244b-e8e6-45d4-bdc4-c72416685fbe CLINVAR:209173 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 6f3bfd21-6e2e-4a7f-8585-602da74e776e CLINVAR:9618 biolink:is_sequence_variant_of NCBIGene:4556 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5fcb1efc-c8d2-49fb-8583-ad4e00470801 CLINVAR:9618 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel a35b0c5a-7b56-4b51-b30a-673795142213 CLINVAR:9617 biolink:is_sequence_variant_of NCBIGene:4556 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 60ca832f-e57a-467e-8895-51a0f9db955a CLINVAR:9617 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel bd3580f2-4eb7-46f0-9567-6b505d4ef4c5 CLINVAR:9686 biolink:is_sequence_variant_of NCBIGene:4519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 5f9809a5-5163-4af3-9f95-44495f8e908f CLINVAR:9686 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel e3bcead3-cb6c-4b8b-92d5-a80ba0162c4d CLINVAR:9681 biolink:is_sequence_variant_of NCBIGene:4519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 9ed7146a-b6fb-4eda-8b80-57be7ff77e4f CLINVAR:9681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel fda1b380-6c62-4a31-aa44-1d1ab4522090 CLINVAR:9680 biolink:is_sequence_variant_of NCBIGene:4519 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 15a6b5b6-1867-497f-a10b-fc5c8d91e361 CLINVAR:9680 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel 3a828e37-3307-4404-8cee-a509af4bb55d CLINVAR:39575 biolink:is_sequence_variant_of NCBIGene:4576 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 11bf109f-6ae9-405b-ae01-3ab4f7add7e7 CLINVAR:39575 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel f79c8fd1-5ede-45ca-85f7-551beb978f36 CLINVAR:9570 biolink:is_sequence_variant_of NCBIGene:4571 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clinvar 8a4355c6-b86d-4bb6-a54e-41f657057c0b CLINVAR:9570 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely pathogenic infores:clinvar reviewed_by_expert_panel