id subject predicate object category agent_type aggregator_knowledge_source knowledge_level negated original_predicate primary_knowledge_source 65933e07-d182-48fa-be8c-380d11c02044 CLINVAR:586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7fecfda-80da-4fdf-a7bc-1405775ac07a CLINVAR:586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8b4b42e-047f-48f0-ac06-54b280b171d9 CLINVAR:102844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54eadc79-cd01-4c57-b6c3-eca38f834e93 CLINVAR:102844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a59aadd5-ac48-4394-8f17-0f21a456c7f1 CLINVAR:102736 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd8c6193-2f15-4ac1-9864-6e1c3b5f8d99 CLINVAR:102736 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c499c6ed-173c-4e5d-9f6f-716f62783a4d CLINVAR:102705 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 878a40f2-afce-4b3f-bf77-457c6a2aa68a CLINVAR:102705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b71158-e89a-4136-856f-00e56c52410c CLINVAR:102518 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f664a411-1efe-4fb0-b39c-f78425699ba5 CLINVAR:102518 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625d0d0c-a53e-4f5a-8c44-4be1184a7625 CLINVAR:102498 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01c8ea3b-ab96-465c-811b-6827b661fe4f CLINVAR:102498 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df63dcb-3e28-443c-a7ee-714a352b1166 CLINVAR:102475 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9ab769c-6979-4879-ad9a-93408954ec16 CLINVAR:102475 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a53d53c-514e-40fd-ae01-715a811fe74d CLINVAR:92752 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec895e78-f43b-489d-a34d-bc56770dc20c CLINVAR:92752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756b8f69-658f-4b8f-bd76-6b798c13d9f9 CLINVAR:581 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d0d2ee0-70e0-4fa4-98ed-c6ff272a9e15 CLINVAR:581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5bfd94d-6e9b-470b-94f8-04606d1749fb CLINVAR:102693 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 486d3f45-c5de-40c2-bc30-7388a145ccfa CLINVAR:102693 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80e4012f-5542-4d68-acd3-69fbf69d48f4 CLINVAR:102723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a31b462c-315f-43a1-a018-180d165dbd31 CLINVAR:102723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 035c9026-69c3-4b15-8bda-5fed4b8da06d CLINVAR:92737 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2baf23e-4b05-4c4e-824c-1fb75355b6d5 CLINVAR:92737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c1455b2-b8cf-4a96-8b47-5451a0c7075f CLINVAR:102742 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bff8e2d4-d1f8-4e78-b02e-a9d4d5cd39dc CLINVAR:102742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cd63a92-be8e-482b-8a56-d522e5bfc0e6 CLINVAR:92746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82eee4aa-6bcb-4973-927e-d8b923ad7a02 CLINVAR:92746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c8fe4e2-3bdc-42e2-a078-9228625e48e9 CLINVAR:92741 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 365888c3-4fb5-4b5b-b578-ec9085c05017 CLINVAR:92741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c479434-e7ec-4e0e-8e13-f2a328f1e1a8 CLINVAR:306914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0e6efb1-3cf5-447e-b704-b86b40ac7b60 CLINVAR:306914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cb1f191-fb33-4535-81ec-f25fef7720f0 CLINVAR:102703 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8347465-a65c-49b9-bb0b-640257696f45 CLINVAR:102703 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 805dc32a-1db4-479e-84a6-8cd8b42c1a43 CLINVAR:102687 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 314bdeec-29a0-4cc1-8acf-38e3a7940bc9 CLINVAR:102687 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee0e781a-a6cf-4d2c-9aa6-a787fc2807bb CLINVAR:102716 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b911fdb3-4c99-44aa-9621-665147a01151 CLINVAR:102716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31caf4a4-748c-4080-941e-69f2255338be CLINVAR:102601 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49b8cc3a-232f-4c09-9d00-d325275a6d84 CLINVAR:102601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbe736cc-c6f7-4d42-ab74-b72ac5922386 CLINVAR:102729 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 12376064-bf57-4150-bbd1-0fe712ba5db6 CLINVAR:102729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 390093ad-1c68-450b-bd10-dbf18ae0d934 CLINVAR:102871 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 854dd079-6dd1-4b63-ab23-f8b408133e26 CLINVAR:102871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf94e4ca-e914-4e91-9677-49ab925cdfdf CLINVAR:92743 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ce8f873-f2d8-4e42-83dd-cc5f2de2d644 CLINVAR:92743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa0a2f1-7e5c-472d-bc0d-9b293491f4dd CLINVAR:102706 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98705900-755c-4591-9c40-6b55042f16bd CLINVAR:102706 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d250851-a5e4-49e2-ad32-c708632e1b53 CLINVAR:120273 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 710d94d3-88c3-4876-9c1e-6c45c0e1c049 CLINVAR:120273 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad395972-b096-48fd-a472-09e7b55f6ac6 CLINVAR:92729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba4a9a00-156e-45bd-a1c8-507b9fc4e901 CLINVAR:92729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cf79e14-cf4e-4dd4-99fd-4ba9cb466c17 CLINVAR:598 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa15ce53-a670-495b-b979-c8555aeb9b42 CLINVAR:598 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 216371e5-188f-44a9-b537-18bca68d6e16 CLINVAR:120287 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a304c24-bd74-4e12-bc24-39efc6e8feb1 CLINVAR:120287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a12415c-8e53-4cef-b319-f1b22d318470 CLINVAR:92740 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a22210d-5189-4985-b0cf-47a5fe9bd469 CLINVAR:92740 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc7c085d-838c-44fd-b49a-3f5a3852a663 CLINVAR:120271 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3299275-3d3c-4989-8071-3121cba8b473 CLINVAR:120271 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 853b2e81-8253-47fb-b470-01931d2681b9 CLINVAR:225135 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d528ba14-b626-473b-bd91-c3e5267e0122 CLINVAR:225135 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4c5a18f-1560-49d0-8f24-015f3ae5cdd1 CLINVAR:102821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 485d7511-441e-44c2-89a1-b2879fe86082 CLINVAR:102821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4998db2f-96cf-4176-ad58-15a3862e5c05 CLINVAR:603 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef902fea-aa12-4cc9-b6e8-ded59300eaaa CLINVAR:603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c232b7-46a8-4b8a-add9-63740cdbef3f CLINVAR:599 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f16036cb-8fab-467f-8c03-683f3b079e52 CLINVAR:599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1030bf6b-b5fe-4012-9914-5046eba13290 CLINVAR:632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41989934-0b03-4ea7-9d3d-bea69634a3e3 CLINVAR:632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9adefb9-4e39-4066-a769-f7638672e2d5 CLINVAR:102483 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4902f1f9-5fc2-41d1-affe-d79693ca5e1c CLINVAR:102483 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e78b45-4feb-405f-ba7c-48f997a8695c CLINVAR:102557 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c43ded9-76aa-401c-8a23-74d8ee7bd84d CLINVAR:102557 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60149675-6187-4b30-b789-c57e2347344e CLINVAR:102696 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7242917-75bf-4fc5-99a1-47ab7acb71a4 CLINVAR:102696 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 183477d0-d583-4805-9b08-c07f8929b62e CLINVAR:102913 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc86dca6-ee2c-4296-8f45-bc1926f7b695 CLINVAR:102913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17722450-1a3d-4d91-8a50-7ae5578dc4c2 CLINVAR:281073 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42d701ba-1caa-4892-a8ea-3a4c7b040971 CLINVAR:281073 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebde4d53-5576-494a-8fa2-102c7e668675 CLINVAR:439228 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a3ff904e-2857-4c8b-9df0-55aade124a6c CLINVAR:439228 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b0671a-9462-4cd6-9de1-ab9d8e02b364 CLINVAR:92742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76bfbc2e-e96d-4502-8e51-be66691f3623 CLINVAR:92742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 493136e3-c155-4721-8313-0e9063ec4462 CLINVAR:577 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6b5aea4-6880-4cb8-b186-d129f4e6a53f CLINVAR:577 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcfe630a-e0f7-4ba9-a090-9001edf42951 CLINVAR:596 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6df8ee01-7c73-4628-8c58-cef5a4fa17cc CLINVAR:596 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d48b9f3a-7e2c-40dd-8664-31976c987f86 CLINVAR:102650 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de083902-ed2a-4c67-8bd0-24885ab4a111 CLINVAR:102650 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 195ae584-988e-453b-aeb5-334f708cf5f5 CLINVAR:607 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11708234-c6a4-4e7b-bfb7-cce5fa138efd CLINVAR:607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95794e86-dd9b-4c10-a490-12aa031e256f CLINVAR:617 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac0e2189-6f3c-4e2e-920f-c5da14236ebf CLINVAR:617 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba822ede-6a3c-47ae-9bae-2fc92273a353 CLINVAR:610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 84495f5f-6845-49fd-b6bf-68b27d0a6954 CLINVAR:610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6634cf8-3530-4780-9951-22a3cf6e4be3 CLINVAR:576 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88157d2e-644f-4e3b-bea4-031e7ea74b51 CLINVAR:576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e59e52a3-ae4c-4723-9348-2130a9ef79be CLINVAR:593 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1e76b69-391d-4eaf-bb3c-89fc4996c93c CLINVAR:593 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24144dfd-d125-4c97-8e2b-32dad02a9467 CLINVAR:582 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa8abb50-8019-46eb-9f6b-c864c1050027 CLINVAR:582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19ce2c5b-b69e-4b7c-adb8-01d066db2fb2 CLINVAR:592 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14d8a60d-3e79-4c85-abe1-ff89cdc6153e CLINVAR:592 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eee852f-6065-4fd9-bc39-b86d6bbc58bc CLINVAR:102632 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9406b9cc-2d2e-465b-8f94-d2e46f587d28 CLINVAR:102632 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0fdbd5b-64b0-43eb-b84c-b360371b7fab CLINVAR:612 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a788b09-19e6-4faf-8209-752f1e0a5262 CLINVAR:612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e463eeb0-0154-489b-82a0-5a2a8e795bab CLINVAR:376937 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08cc3637-3abe-4009-b6bc-e7e647a10f2c CLINVAR:376937 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac247be7-8632-4b12-b54a-e8c5615086b2 CLINVAR:619 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63ec0a16-103e-41be-b465-3de9bc0d977e CLINVAR:619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d33103a3-c5e6-4b7b-86b1-0e9a83238385 CLINVAR:102784 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c3ee554-e9d8-4006-8599-0388df42665f CLINVAR:102784 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4273d8e8-9eeb-41f9-b106-a9677264b2ca CLINVAR:628 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d1a6f43-1bb9-4df7-bf57-fc951a5b155b CLINVAR:628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1a53819-ef27-4cac-adf4-5483f4ce5879 CLINVAR:594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1339e00c-87d0-4c27-b2a1-5e6c7a099e9c CLINVAR:594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7be567c-541e-4ffb-bafb-8fc36468819c CLINVAR:102803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e579b722-d152-4d20-a595-79b795577905 CLINVAR:102803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2436f7fe-3c6f-4769-bc10-f76f28c74a53 CLINVAR:102804 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 281f447f-9968-4b45-bb14-5b42cf4756f6 CLINVAR:102804 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b714050-b7de-4171-a15e-741e1dd1f2ee CLINVAR:92731 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 038834b2-3b34-450e-8e27-5f088c444a86 CLINVAR:92731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5b19252-bff0-45e8-a734-64ecc34b1ca2 CLINVAR:601 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36fcefce-436d-4bcc-8cf2-d05e7db56228 CLINVAR:601 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c2acad3-23f7-45e8-8479-be5daf3d3866 CLINVAR:625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1bcb4e68-d53d-47d6-8830-48ba0eeb29b6 CLINVAR:625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b010970-25e6-4dc0-a0a3-dfad167a4cc6 CLINVAR:92751 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0264cba5-9e09-435e-8d4d-ca8817af67d0 CLINVAR:92751 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ff1f17a-4d9c-4f58-831c-6d2ef1d4f3f5 CLINVAR:588 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94dbaecd-5cf3-4865-979b-6b3f5f964697 CLINVAR:588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ee20234-b29e-41c1-b2c1-627142caa39c CLINVAR:584 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f44306b-185f-4b9d-aeba-e9b3ec243aee CLINVAR:584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 082fc69a-7905-4730-a9b3-a1b9db8647a3 CLINVAR:102824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16eb6060-f79f-4bcb-bc3d-d0d6ac5a71af CLINVAR:102824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d16cb7f7-db60-4585-a473-4082ab358718 CLINVAR:92747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 471a5a6b-e8d9-4ffb-84cd-8662266e2228 CLINVAR:92747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ed83b0f-02f9-460c-8fb1-4e7e6ef27ea3 CLINVAR:92753 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7782017a-be4e-41cc-9f25-6020798178ea CLINVAR:92753 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6288fd0-234d-4fba-9e26-08add69d2657 CLINVAR:618 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7edaa8c9-70df-47bc-9f50-c61ddfdcf4d8 CLINVAR:618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b716535-df66-4a19-b91a-54d7ad3686b5 CLINVAR:102720 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 54656afb-5386-4532-a6a8-1cb1d622fd0b CLINVAR:102720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bb7eae8-5224-47d3-9815-755c28b429db CLINVAR:92744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bba374f6-691c-4b5b-a3f9-f7dff2437cd6 CLINVAR:92744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f76f62bf-265e-4e63-8ee4-fa7e8ab62837 CLINVAR:102698 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c97afc3-c6a0-489c-a010-c93aec767892 CLINVAR:102698 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34a0026e-a9a3-4142-aae4-655a85ea38de CLINVAR:595 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc324a01-d248-44fb-ac15-a7adee7e280c CLINVAR:595 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32d5bbe5-6351-416d-bc6c-a7424c223225 CLINVAR:142269 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ed92d0a-c267-48ef-b868-9ad3cd49e561 CLINVAR:142269 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0263e35-6533-43ff-9dbd-29aa3071ccf7 CLINVAR:127662 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48da796e-81c2-448b-9954-0777231586c4 CLINVAR:127662 biolink:is_sequence_variant_of HGNC:37212 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e922532-f05f-470f-aae1-0a1635d80c5f CLINVAR:185989 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58c9fa43-e6f0-4d2f-b4b4-00e3b314303c CLINVAR:185989 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36beff07-2cbe-4e2d-842a-43dedd918d18 CLINVAR:142681 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb6bd030-48ea-47d8-8f18-2c67e71772e0 CLINVAR:142681 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5fcc8ed-2d61-4295-a72a-4f19c2cafc7d CLINVAR:127687 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98dc9de6-c739-426c-8a21-56a0eedcf56b CLINVAR:127687 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb6ffc3e-fa2c-403c-a34b-6ac0e8f47e47 CLINVAR:187673 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7cb842a-7cb3-48f3-b7d9-53e3519dcd85 CLINVAR:187673 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a35ac2a-e5ce-4809-aa78-b5586846b10b CLINVAR:7844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e303b8b-7c08-434d-a892-4527261871c2 CLINVAR:7844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce0d0c26-a35d-4d35-8df0-197308b63213 CLINVAR:404147 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5fd23460-d39a-492d-bfd0-b1f3f18af02f CLINVAR:404147 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0437bc16-3551-42b1-a69f-4789dfb693be CLINVAR:184104 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18d4ab04-c948-4b11-b21a-fe555500556e CLINVAR:184104 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4958be5-66f2-403f-be23-ea924b17fcf1 CLINVAR:187590 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c9d4676-8d7e-4633-8882-9dfa972c4149 CLINVAR:187590 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cae2d9e3-2ca8-40f0-ba50-9afc8e4a58a9 CLINVAR:189462 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b2d11f2-dce9-4fed-b8ed-2f795d4461cf CLINVAR:189462 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 834235f0-6ef9-4803-8c9f-2060d3e807bc CLINVAR:189441 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d16d760-120a-48e3-97ef-0eb1eadd47d5 CLINVAR:189441 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c711ad48-de3e-4291-b8fc-04e83d070416 CLINVAR:187657 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ddfbdd2-0f57-4b7c-9a2e-4d6d00ddd361 CLINVAR:187657 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 764d4f1c-99d6-4350-8779-1ddea37d6205 CLINVAR:185213 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acc6b235-b983-4a0b-b848-8476a2c90bdd CLINVAR:185213 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c212a2af-0cfd-41de-b5bf-9301251cb2b6 CLINVAR:189411 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92b08931-650f-4ae9-b03d-dc24185d9c35 CLINVAR:189411 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 594fdaa0-81f7-4ca9-9857-f70d51283db8 CLINVAR:141654 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f494eaf-b94e-487b-a1bd-bd05cc507f84 CLINVAR:141654 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6212c0b-a8de-440c-8f1e-c7da36175607 CLINVAR:141485 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66b24d81-c673-491e-91ba-483905167fad CLINVAR:141485 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbce973e-862e-44cf-a0d0-5a18500de261 CLINVAR:220007 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c776df4-71b7-4421-8d37-9781cf598b7a CLINVAR:220007 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93e13934-752d-4fd4-889b-cda1e2456402 CLINVAR:404140 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01880e3b-04b2-4f88-b089-b1a647e1fe7e CLINVAR:404140 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 088a842e-584e-4bcc-b8dd-89985547d3cc CLINVAR:92816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29a58855-0ae8-44ad-bef1-6973abc37e2f CLINVAR:92816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b00fd8d2-d37a-4248-840b-899e1bda518f CLINVAR:142423 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d562b6a-1ed1-43ec-a49a-76dd05fdbb94 CLINVAR:142423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee4fb23-0d06-4091-ae6a-8aa28db9a50a CLINVAR:183722 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6939b84-6835-4684-853c-99f34698c1d7 CLINVAR:183722 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adda7c38-064c-4f8c-bcb6-53efeb3338c3 CLINVAR:231916 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03b3c4a0-3e79-4473-a357-6f3b3aede97d CLINVAR:231916 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f0f6d5-6350-42f7-9078-0cd5de34c1de CLINVAR:7829 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f087878d-ebf2-44d4-aca6-dbbd5c2f6d97 CLINVAR:7829 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bd10fc4-8936-49db-a0a6-294dcc6ab409 CLINVAR:189406 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb5c0655-2d3e-4ca6-b91d-b9f5b35c9bd5 CLINVAR:189406 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f18acb20-ea67-4bd6-99fb-e0d4a21e59c1 CLINVAR:189500 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6224da0-4529-41ea-a54a-9ddf1fdfc957 CLINVAR:189500 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c386b74-a79c-48bf-abf5-177f63206395 CLINVAR:92822 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb32c657-ff08-432d-a49c-109eedae3288 CLINVAR:92822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec13a617-6859-4668-8e5d-aa2a0d5f70d4 CLINVAR:127674 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1a6ced4-0a6c-407a-b130-bc189cdaef9e CLINVAR:127674 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b4fe5b5-ca40-4a32-9b0e-1e202bb77e7b CLINVAR:189424 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e2f3fe3-dd6b-4405-acfc-75a39c1a223b CLINVAR:189424 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a006305-bb9f-4a38-a209-df1ab3baaea9 CLINVAR:7824 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c743e121-6795-4ac7-a00c-fcf5322f8fe3 CLINVAR:7824 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d6d3e96-c7a5-48b6-931c-f10d5666ca68 CLINVAR:7814 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8044588c-c925-47bc-8613-471c5cc5ca1c CLINVAR:7814 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b53984-9cfc-486f-adfc-4410fc63ce7a CLINVAR:7834 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fcaed592-ad83-4f6f-8812-f90b9b864e6e CLINVAR:7834 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d766e787-090c-4659-bc98-93d66a7e3d16 CLINVAR:7815 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8c03f6d-fde2-4e36-a282-ee12b91d19ac CLINVAR:7815 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7c084f-aabd-4e94-9978-7428afd5fd9a CLINVAR:7816 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6885860e-3b84-44ed-b217-dcdf4055f356 CLINVAR:7816 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8779260c-2de0-4899-bf11-32acb48eff00 CLINVAR:142220 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c529b086-d653-4a7e-9f55-16526b5c80ae CLINVAR:142220 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed258aaa-f4bc-4e62-ad93-7ee58dcdc056 CLINVAR:6613 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0e34c03-0ecb-41c2-9219-4f6e656475a2 CLINVAR:6613 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 732b4ed3-9f6c-44c1-99f1-e7156c69e4b9 CLINVAR:585322 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 981ee640-add2-44aa-b988-61298eb0b5b1 CLINVAR:585322 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7695dfd-53ee-4717-a6a3-929fa225edae CLINVAR:585327 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6cc9178-f843-4d5e-a069-85420c699906 CLINVAR:585327 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7e3801a-fa2a-4e9a-b662-92ee4a8c4d01 CLINVAR:17014 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c2b050d-80b5-49d9-b3a2-a8f8105318f9 CLINVAR:17014 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7044c49-03ef-4314-b171-688625c7f675 CLINVAR:505302 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93992837-1b2d-4876-8034-e0f710a06f9a CLINVAR:505302 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c3a2d3-1687-49f5-9920-f3a831533476 CLINVAR:17004 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5a59c34-b806-48d7-a584-0501e25a4870 CLINVAR:17004 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0553b767-87ab-4e8d-b09c-8c3fbd4f8b05 CLINVAR:44740 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4b83c217-7e7e-4f55-9f7e-7881e6a50ac2 CLINVAR:44740 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df25d430-77ef-411e-b07d-c98399bc9cf1 CLINVAR:177859 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a08d0948-b563-4550-9ae4-49336419cf11 CLINVAR:177859 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28bdf366-b388-41fa-b286-2a81e1b52ebd CLINVAR:506273 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c596c0f-98a7-4fe2-9c83-af06827189b2 CLINVAR:506273 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cba12a9b-f90e-4a94-9171-b3920224db3b CLINVAR:166499 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29176ad6-e5ca-4f53-b724-d3577c9a7bdb CLINVAR:166499 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9dc5c34-496f-4f08-bb3a-9e0ffd608758 CLINVAR:198366 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbac3cf6-fbe6-4ff8-8516-76646c155aca CLINVAR:198366 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ebe005-923d-425f-a8f2-55241407374a CLINVAR:43546 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c368805-ae71-4000-9673-c12a6f556e72 CLINVAR:43546 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99a18e6e-dd43-4552-ae5e-5d783f707560 CLINVAR:179542 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34fc095c-0b84-4c4a-b489-3e1b7d027ee7 CLINVAR:179542 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd1823cd-7936-4f95-879e-3037c2070465 CLINVAR:517357 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1eea766-cada-43e6-9d28-70d6febb3748 CLINVAR:517357 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54bc5a71-b54f-4720-88c1-3cafe8a27da8 CLINVAR:178957 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd217a45-fc5c-4a5c-b4b4-b1a722bce00d CLINVAR:178957 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce8ebfd9-2239-4246-8a73-2fabe1596b8a CLINVAR:228491 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6cbaa969-90cb-4a31-bd0c-be7633826e9b CLINVAR:228491 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ae2177-e9ff-42f0-a962-fba07e2dfed0 CLINVAR:161326 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 001d57ed-54e8-49b8-8d0a-91b7d5e57725 CLINVAR:161326 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31036604-2958-47d1-91b0-cfad8b071f87 CLINVAR:43085 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c19d1f65-a7d4-42f5-853e-22a5607159ab CLINVAR:43085 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d918b00-b09f-4e69-b8dd-06c7f80e3dfd CLINVAR:43029 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56ac2cdc-b133-4614-9c12-5f00111a9a48 CLINVAR:43029 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f74f125-bb45-423e-b5bd-27d1c1290639 CLINVAR:42965 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 155a275e-7478-4b51-a4f1-2de2e1e4d7d2 CLINVAR:42965 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9a522a3-4475-47a3-88cf-1bd1288f4657 CLINVAR:43011 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03376884-9f37-4778-92f6-43763807d83c CLINVAR:43011 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2179600d-7277-4d43-ad71-26792dc2e2bf CLINVAR:43005 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aed44a1c-35d5-4bf7-9e93-0d7d73780eae CLINVAR:43005 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40124726-5e4b-4801-8226-2d2ad07f4f12 CLINVAR:43003 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2df8533d-7bfb-4c0f-81e2-ee2007592f70 CLINVAR:43003 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64cabc3a-cf93-4da5-8379-69d0e6f64a5d CLINVAR:42992 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eaa753df-35ef-4c5d-939f-4d7b0c5f6288 CLINVAR:42992 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 033307fd-c590-4a5b-b7c7-676c54c0310a CLINVAR:164294 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ceca75b1-a742-46e4-910c-a921c9973904 CLINVAR:164294 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14faab26-0628-4206-b0cc-5666f6e4ff28 CLINVAR:43088 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95adce70-88bd-4211-a521-86f0ec3d0973 CLINVAR:43088 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeaa61ed-ba00-4a1f-bbb7-51d060853579 CLINVAR:42968 biolink:genetically_associated_with MONDO:0009144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ea3c2b9-d1e5-427c-933a-332eea4d2779 CLINVAR:42968 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79d897c5-2c57-4dfb-baa1-f2df46827e02 CLINVAR:42950 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9996b17-07d1-4ae7-9454-6a0bd25e4410 CLINVAR:42950 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22fea82f-7749-408f-b941-58a54bbe6356 CLINVAR:155814 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcc920df-1385-4dba-a71f-5d2e1627d73c CLINVAR:155814 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd9418f8-e0a8-43b3-a2fa-ddc2cf004c3e CLINVAR:177753 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8bea669-9d5d-41b4-9cf0-8be1784cb4dd CLINVAR:177753 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 237ce264-712e-4f6e-bb92-d9ba8dfa44b7 CLINVAR:42934 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 086e9ef6-7170-4e9b-9f3d-a9c376ac4840 CLINVAR:42934 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba63cece-705f-45b6-afee-579cee0784e5 CLINVAR:14097 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39214d66-9c3b-49a9-817e-764def2a6274 CLINVAR:14097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18f77f9-d9bc-435a-adab-357636b77de3 CLINVAR:14125 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d129d3e9-a664-455c-ad65-3e5f1937fd19 CLINVAR:14125 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98153aa1-5b05-4635-8917-47019ee24a77 CLINVAR:42922 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a1fbfb7-5ea5-421b-a040-9cca3d68654b CLINVAR:42922 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 966b4498-e867-439c-ae83-9f11c619ed17 CLINVAR:14120 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26353756-6e74-45ec-a4dd-c7f7492f8952 CLINVAR:14120 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 348db1a6-7516-41f2-80fd-d71b551487bd CLINVAR:177757 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 020b6510-0814-4ce2-992e-3483ab1c64c5 CLINVAR:177757 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36547e39-86c6-41de-9716-ea360a189a66 CLINVAR:42913 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4e1b55e1-316f-4db7-b830-9a887bcea1ae CLINVAR:42913 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d67240b-d6c8-4417-8320-3a446f027255 CLINVAR:42910 biolink:causes MONDO:0005201 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96eb5e26-94c9-4899-ac2a-89e64142dd50 CLINVAR:42910 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddbd054d-6b50-4814-a29a-422bd1caa0dd CLINVAR:177665 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96f7742e-ffdd-40fb-8a48-1c044aa543f8 CLINVAR:177665 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen facc7459-4d27-49ea-b2b9-b1ac2627d4fe CLINVAR:14098 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3975efc2-0685-4eee-a318-2b9dc37b8a4f CLINVAR:14098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e2641ef-4b8a-4659-8293-5d03789a5d77 CLINVAR:164342 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96fc08b0-dd6a-4726-9dc0-f4ff9d52c78b CLINVAR:164342 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eccbe9a8-9650-4eb4-b19f-ad485ec59ef8 CLINVAR:14095 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20323eea-9722-423b-864e-d14c7c3fdbe9 CLINVAR:14095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fd214f7-ad25-47b6-8dbc-2f8afff3d9aa CLINVAR:42885 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6dfecbf-0901-4825-90f9-a5f28705ef3c CLINVAR:42885 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e722bd4-9c01-4387-91e0-3bbd8e82425e CLINVAR:43076 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab4a73b7-294d-4530-8394-3ceb132d242c CLINVAR:43076 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7c3f17c-97d6-4a68-824e-826cffd1049d CLINVAR:43069 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19c24e81-7be1-457f-8d35-8c587ae232c4 CLINVAR:43069 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7f05017-33e8-4a23-9070-d5ac2fa269da CLINVAR:177697 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ceb8500-2aeb-44ea-ad42-7e769e0e7fb2 CLINVAR:177697 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92790d58-39fe-417f-b470-893cbf4b336c CLINVAR:177629 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3072aaf-85ef-4890-9363-44ce0164ff23 CLINVAR:177629 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 656f3f65-b9c0-4f82-9813-78b95fc2c913 CLINVAR:43059 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8176bbf1-a9ac-4f4f-8679-b0ee397d7ea2 CLINVAR:43059 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7043aa6d-2282-4d99-abbd-6fb6e347a8bf CLINVAR:14107 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f76cdb98-9357-415d-bcd8-48b4d3343316 CLINVAR:14107 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b29f87c9-8e99-4e59-99e2-c1dfb9385827 CLINVAR:14104 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7db08eec-05a4-4ce8-9c2c-79d112a2b7f4 CLINVAR:14104 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 278d7977-f369-4252-a58b-992569e4fde1 CLINVAR:14105 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a3d5590-4bbc-43f3-bb2f-6cf7f632a189 CLINVAR:14105 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d591d2a6-c060-4776-ac8b-3091c76e5fcd CLINVAR:42875 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96f501e9-7d57-480c-af6d-49e0e10c5953 CLINVAR:42875 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c577b3d-3882-45b0-a8ca-a3870fc14345 CLINVAR:14090 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15115cb7-e1bb-484b-be6d-dcd92d100f68 CLINVAR:14090 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 136dcbd4-2ad0-431f-83b4-4908b457a524 CLINVAR:14108 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4f6966d-5443-4094-95c1-1a1d361752b2 CLINVAR:14108 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42b8a976-c08c-48ad-a421-b88c7a7252e6 CLINVAR:36642 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0022e69d-09fe-4dda-854d-29d9ee06d0b9 CLINVAR:36642 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcc68012-76e2-439b-a459-d88a0608fbe8 CLINVAR:177817 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6674c26b-cb15-4f6f-b690-036f655fe978 CLINVAR:177817 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68215437-ec61-4c1b-8ccf-111b3742a8a6 CLINVAR:14087 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4e40d86-59ae-4de1-bb66-567419fe628c CLINVAR:14087 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8f2032e-0ecb-4ba9-83e9-a7b1c7f8d2f4 CLINVAR:14102 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d650fc8-5d5c-46f0-85f2-74561223d743 CLINVAR:14102 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de818790-19fe-44ad-83cb-a22be019980b CLINVAR:42838 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96184530-3061-4d51-bffe-03fdf3333c61 CLINVAR:42838 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6da4e8f-1072-4410-8b52-07994e1b4ba9 CLINVAR:164378 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7412c136-d423-4063-9fcd-09a3321eb8fa CLINVAR:164378 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 219a234e-df0d-4f13-89e9-1e6a07513a27 CLINVAR:42822 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31ee19dc-4e1c-426c-8c40-3e304ee59581 CLINVAR:42822 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17191478-c616-46d0-9871-f360ab8a3daa CLINVAR:43106 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7d38c2c-6e06-4ef0-b9d9-59c25f43f26c CLINVAR:43106 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d44b72c-56d2-4db2-93d9-e7f7ca7f4339 CLINVAR:43006 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a865bf94-b70c-4b2b-99d5-129c941f20ef CLINVAR:43006 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be7993d2-9cc8-473b-9afa-40bc46057227 CLINVAR:40649 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43401623-8086-41f4-a447-13b10d9c4544 CLINVAR:40649 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef49e17-0604-441c-bea6-d24379e8e4fd CLINVAR:181528 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 858127c4-6e3b-4dcf-9dd9-7b0b535450f5 CLINVAR:181528 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 916853cb-66a8-4e85-875a-7b04194934ff CLINVAR:40634 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd4e81d5-7bb2-4f72-8db3-f75b9b47d75b CLINVAR:40634 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efb1da37-c465-4753-879b-32e38d5f9911 CLINVAR:6821 biolink:causes MONDO:0054637 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc14dca9-7afe-439c-94ae-fc2f7ed0cad3 CLINVAR:6821 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd11d2b9-38a2-41d7-9a3a-f24206da1ec8 CLINVAR:40601 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51ca1af8-aa92-4810-8e10-5bd62b5f9298 CLINVAR:40601 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16176936-8968-43b3-850b-c99df52ff9ed CLINVAR:40607 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dec380a4-abe7-4a40-b6d8-d61ed2c02342 CLINVAR:40607 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4938d7c8-4dec-4ab6-b477-eb68e5759e48 CLINVAR:40600 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c926f331-80b0-4a36-8590-2191ecdf070d CLINVAR:40600 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f71f449-5d9f-4804-b749-395e2ef9cd61 CLINVAR:40612 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33d489b7-ec20-4963-9533-5c74d04cf62b CLINVAR:40612 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26832932-9cf9-430c-814f-3455f5772d9c CLINVAR:40613 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f8627bb-9f76-4c73-9f9e-e7487f221962 CLINVAR:40613 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a31198d8-0374-4390-a8b1-b12d292f5fb7 CLINVAR:40614 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d15e5f09-02d4-4a2b-aa90-1cf4dadce2db CLINVAR:40614 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d1ed2de-4dfa-4068-8539-af920eec3ec8 CLINVAR:40520 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 644d139b-aad0-40ea-b7e2-e4f12517edd3 CLINVAR:40520 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc9a1b5-6460-4f5a-a83e-cf0de4966519 CLINVAR:40567 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1fe5874-bc96-4807-bf78-6282302ab81c CLINVAR:40567 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a947ed03-2959-4a25-bbae-cfca04bf568d CLINVAR:40522 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b91052e6-edc6-47ac-860c-7c3d31d1c57b CLINVAR:40522 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29bba548-84bf-4eae-9279-d35c07f77031 CLINVAR:13344 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b4fc95e-d8e3-48aa-9f85-3c16ed9640ff CLINVAR:13344 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f894738-04d1-4e69-b5c0-07cba12af2f4 CLINVAR:40504 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6807c3a8-d595-4674-b1a8-f3bf453d9ec5 CLINVAR:40504 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98437028-9a35-41de-bfa3-3259861ccff0 CLINVAR:40484 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f22734b0-accd-4522-8b4f-2272277e01c7 CLINVAR:40484 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b69b0f6-76d9-4392-bc8f-8127194cb39c CLINVAR:46242 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 480f5cbb-7f12-47d0-bbb1-4f92a71e83a1 CLINVAR:46242 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d327b13f-5bc6-49a3-ba2c-44d72c7207b0 CLINVAR:40786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7914a874-a292-4449-bb49-e8a583d42392 CLINVAR:40786 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20f1bd81-1e4d-4538-bacd-047209b9e0fa CLINVAR:40813 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6404ac85-5f0d-4985-8f8f-fa762083acb8 CLINVAR:40813 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd664568-b3de-4266-8b05-14602542a3e9 CLINVAR:40779 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen def301f1-c38f-454f-afe9-3a77902fb1cf CLINVAR:40779 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 680dfc78-c8ec-4517-81fb-5c969905529f CLINVAR:40452 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aaca62b8-a5c1-4c93-b9ef-a1a2206bd548 CLINVAR:40452 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 316a98f6-6f65-4034-b9b2-dfe6e705a4fe CLINVAR:12594 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e16bf8f7-1947-400b-81d2-e3d710540cd2 CLINVAR:12594 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13ced970-c3ee-4053-bb8c-ad21e9a1c96c CLINVAR:40435 biolink:associated_with_increased_likelihood_of MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3232c76-90f4-4c90-8ca6-fc5b79bf4d08 CLINVAR:40435 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c434b5ff-d1e7-4115-8f33-af0f707af725 CLINVAR:40439 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6ee03e0-7a3f-4a33-90f2-af64883b1547 CLINVAR:40439 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bbf7e00-a973-4418-a00a-e78d4799570d CLINVAR:177672 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f409f1a3-18f8-4780-a2c6-6951fbc8af8d CLINVAR:177672 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e070297-5c1a-4e55-83e6-1fbf3505f9c7 CLINVAR:40380 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 542f901a-824f-4251-b7da-5cd9191acab8 CLINVAR:40380 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80eae4cf-5788-4a96-8278-e85c866ff979 CLINVAR:40387 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd03e7cb-736e-447b-8b0a-a740c7e4a3f7 CLINVAR:40387 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d24ca29-6dc1-4ab1-a262-2fb6a386a428 CLINVAR:12586 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7fda997b-4385-4424-94fc-8eeff2823090 CLINVAR:12586 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6e0cc5c-b278-4201-91a6-897ed6ee8fdc CLINVAR:40454 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02e4357c-1838-4d4e-8f4f-125a6b8c9c03 CLINVAR:40454 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46ac6c4c-d4c8-41e7-b0a1-8a16a67471ab CLINVAR:12587 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce124fda-c56d-4c2f-b889-f9073c963fd1 CLINVAR:12587 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17fd85b2-abbb-4619-9efa-f100c44c97f9 CLINVAR:12588 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7c102d0-6440-4d49-a9f1-458832a2ffaf CLINVAR:12588 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cdcb5fb-66a1-46e5-a10f-ff3040aa2a6e CLINVAR:12589 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4497a32b-4079-4e8e-b9d9-4013eb213e08 CLINVAR:12589 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41355ace-e5e9-4fea-a9a6-4266a3afec9c CLINVAR:12610 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd42286f-e22b-41bf-91a5-27f51d2534c4 CLINVAR:12610 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7d60377-0cfb-42a7-8b4e-92bf89b73aab CLINVAR:12602 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd60dcf0-28ae-4579-9207-a117082ba28b CLINVAR:12602 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99c792f9-fffc-43b9-948b-0163ad419e62 CLINVAR:12605 biolink:causes MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08a06a84-1091-4e43-aeb5-5ebc5e8d4428 CLINVAR:12605 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b89b3a6-5cb7-47b3-8c58-542aad59a419 CLINVAR:12606 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c53c7e5f-c4a6-4184-b40a-902e5135231c CLINVAR:12606 biolink:is_sequence_variant_of HGNC:25430 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b84a6fce-11b3-449d-949d-b58cbc3d8f7c CLINVAR:12871 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3dd357dd-d7fb-4153-a39f-fb2864cd9cf7 CLINVAR:12871 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 725d8a50-238a-47d7-9ff9-689c0a7a4abe CLINVAR:40678 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b12bf8d9-bad0-423b-b8e7-cb2a8b6adc78 CLINVAR:40678 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd0617d-4d8b-4362-b612-7571740e0884 CLINVAR:40662 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa493c8f-eb9a-4c85-b817-9f53372f0d6f CLINVAR:40662 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb5eba3b-3df2-4f5e-89f7-fa55c9d3fc23 CLINVAR:40706 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 010f6634-a727-4ae9-8482-d3ae9292859f CLINVAR:40706 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 017ff60c-a6a6-4015-ac60-acc464896eea CLINVAR:40651 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a7fcbdf-5862-4fdb-99f3-904e74a66a1f CLINVAR:40651 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1469b394-a88b-4579-8cea-c980e26f7646 CLINVAR:13957 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1eade410-5d32-43b3-b491-36b591e4925f CLINVAR:13957 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98ef0d46-37ae-48ce-b8d2-d2d56321eab8 CLINVAR:13958 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61286265-882d-4aa3-bb1c-c98241e6bb49 CLINVAR:13958 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e0c46f8-3a1e-42e3-8a8f-a00f677cf63d CLINVAR:13960 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2fae492-947e-4023-890e-a0129f139c95 CLINVAR:13960 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc16df64-4b8f-4067-922a-f9381f694fd5 CLINVAR:21342 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 602fa609-49e5-49f3-b42a-a3d3a36cb6ea CLINVAR:21342 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c1e015-fe46-42ec-ae4a-6db3c593ac01 CLINVAR:40599 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3139fbd-8a23-4739-965e-c89e2e840a2f CLINVAR:40599 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a25fa7-f719-4e28-8f84-d3ae62c527cb CLINVAR:13326 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 802996f8-8a21-4483-ae90-9f1abc95906c CLINVAR:13326 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34bdaff0-6190-4c0c-affd-dcc6ef7fbf68 CLINVAR:177868 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 437c875c-69a8-4421-8586-b5b4694292b0 CLINVAR:177868 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3601c2b2-ad38-414f-a596-ee6dc6de7c81 CLINVAR:8274 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 18f986aa-55f6-4ed7-95c0-ac8c68f9afee CLINVAR:8274 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3f55567-265f-4dfa-b9fa-7bbecd6a1a0b CLINVAR:8272 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a3b8e1a-9c56-42a5-b2e8-7989ee712dff CLINVAR:8272 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a66639e1-5143-4677-9023-76ee2438ddab CLINVAR:8275 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 20172aa8-58c7-424b-a340-c634b6d0fca0 CLINVAR:8275 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f08a8422-259a-4083-919b-d1fcca8c80a5 CLINVAR:13350 biolink:associated_with_increased_likelihood_of MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99155a6e-8b06-4939-b4ee-7598cda583ac CLINVAR:13350 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3e496ce-4025-40f0-b7f5-01a91629b65b CLINVAR:40781 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9cee93a8-3718-41fe-a806-504701fa1a8b CLINVAR:40781 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eff7cb3c-774f-4c1b-b076-0e961ee6116b CLINVAR:40747 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21bd961a-bc07-4d7c-ac3b-f48fbc64faf8 CLINVAR:40747 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ab80e43-1804-4957-b00d-b48d5db01207 CLINVAR:13351 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4f0a0b8-07f3-4f61-a3c3-d6a5e065148e CLINVAR:13351 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b29aa4-b681-40aa-b645-e20103af194a CLINVAR:13979 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d28d73c1-bddf-421a-94c7-adce05490f34 CLINVAR:13979 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c4780f0-668d-4700-9c19-2b7d671ce2f3 CLINVAR:13965 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d6eeb3a-5c18-42db-8d35-b97fae443093 CLINVAR:13965 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c24a305-9f79-4a55-847a-5af7a57905a7 CLINVAR:13974 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c2cb815-549e-443c-952b-fac7dbefb76f CLINVAR:13974 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6514278-b53a-4673-aa33-29ea83f3ce4a CLINVAR:40346 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 658d84c2-114b-4c9e-826d-87afc1c3177c CLINVAR:40346 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5c89677-28ce-46a9-85cf-7ee9d0d524f3 CLINVAR:44588 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6dc5ba4-e1ab-4e04-bca7-68e741dab36b CLINVAR:44588 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a656156-6726-4bb5-8cdd-d0d344f89061 CLINVAR:13973 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a37e17a-0c31-4b2a-a256-aff315790b64 CLINVAR:13973 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15c66b8e-5820-40fb-a56d-8342754203bf CLINVAR:599655 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7eae9966-b98b-4581-a5ac-861f63541479 CLINVAR:599655 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d9cc3bf-417c-48b2-9584-f80d3cd08026 CLINVAR:418841 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03ffd1fa-319d-45c8-95e1-81057d854411 CLINVAR:418841 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37cc634-682c-43cc-994d-ee03c8b6df0e CLINVAR:140871 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06488f89-6022-44a1-9e98-845157f96066 CLINVAR:140871 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b421efa-d650-48fa-9e58-0918d423a3f8 CLINVAR:496233 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 576c258d-0c6a-4670-96fa-a8d5dbfcd234 CLINVAR:496233 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a62c16ac-672f-48fc-a0f3-7d231b86f0b6 CLINVAR:599651 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57472030-42cc-4503-9720-f0b6878c8bc1 CLINVAR:599651 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee4351ca-e436-4491-898e-05b49afd91fb CLINVAR:136055 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb4642a3-c8e6-4481-ab86-9996db1ff45b CLINVAR:136055 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0725c681-2889-477c-9e8b-3d04a99d83ce CLINVAR:463775 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1b79f44-df94-407b-9b32-2da925217d97 CLINVAR:463775 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fe51352-c711-4fc6-b6f6-4baa8182238d CLINVAR:156496 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e8ef32c-6d44-4c35-8a32-a64a82096a2c CLINVAR:156496 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37ebb86c-51ee-4e18-9dfb-82ca7a2cdddf CLINVAR:599653 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e59bb95e-1348-4aa3-af77-a4f1e60d9b2a CLINVAR:599653 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc05315b-9d44-45b2-8a6f-8943194d419a CLINVAR:599656 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fed1f37-e717-45c5-a1db-630e7cd9a1b9 CLINVAR:599656 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f51a6a58-a47e-4029-b371-a0160016ebca CLINVAR:239914 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60912809-be10-4667-8e72-59e155280e42 CLINVAR:239914 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecafcde0-fac6-473e-beb6-6a038947ad22 CLINVAR:599652 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a91a8577-814e-46bb-ad2e-0f183503dfbb CLINVAR:599652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78d09353-937f-4c5c-be99-55a77beea878 CLINVAR:156497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1981a41f-d4a7-45c5-b7a1-c596bfbae070 CLINVAR:156497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9099bb3-996f-4b9c-a431-e5e221ccd47d CLINVAR:156499 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae3f8608-a8b4-4cc0-b1d4-a4a83bfb399d CLINVAR:156499 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46cf4d50-1b65-4c1d-bd6e-f506f3461d83 CLINVAR:449341 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c1f6923-c6ae-487e-98aa-a4be014225dc CLINVAR:449341 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a1eeabe-481d-494b-bb4f-cf71f395e31c CLINVAR:599654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61067b96-447d-4cd7-b553-81fb5a61a099 CLINVAR:599654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b5c0413-5033-4cd0-b5a4-ad3c1c2943aa CLINVAR:486824 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3abff9f-4f06-424b-af51-9cda81820680 CLINVAR:486824 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c837ea8-4fce-42c6-a412-6df82aad5d23 CLINVAR:239913 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01d43267-00d5-427b-8ac1-863b51f1f0f6 CLINVAR:239913 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55d6e462-4d51-4cc3-b396-0949cb165f59 CLINVAR:479504 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 707e3e09-9bdd-420f-83c5-ce1f2a527e4f CLINVAR:479504 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 450bc565-f403-48f1-a01a-69fbdce016cb CLINVAR:479488 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8b09e2a-c814-4b3b-b8f8-0320d6d795e2 CLINVAR:479488 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9befe164-59d7-4884-a198-a9f2647f23cd CLINVAR:234554 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6ab8b70-0f32-4a31-b13b-bcb36ad9da07 CLINVAR:234554 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0ba9aa-7fe4-452d-a527-87326b404156 CLINVAR:239906 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ba9ec63-4d0a-439d-a9b7-22762ede302c CLINVAR:239906 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79650777-75dd-4c0d-9809-10c883f3a25e CLINVAR:483264 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c81148d5-e2f3-4500-958c-35c8b0fc0a29 CLINVAR:483264 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe8d1ce1-e1b7-4392-bb4a-900575d04e0a CLINVAR:12241 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5cbd179-2491-41b2-b1d0-48d84027b013 CLINVAR:12241 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a24a534-fbdc-4668-813a-94f49f1b3982 CLINVAR:231647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 350d2f3b-8658-463f-b33b-a317ec8ccddb CLINVAR:231647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85e96dda-e9c0-4c80-bdcf-990da8a188d4 CLINVAR:187464 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d0d59cb-11ad-4d0a-a142-ffbb2560da1c CLINVAR:187464 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5bab1df-f8fe-47a2-b587-169d45cf6547 CLINVAR:18453 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0315e183-259e-4473-b8b3-b7666b42a89f CLINVAR:18453 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d5b8442-08a7-4124-9770-3b94c7ce9e02 CLINVAR:406663 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60d0833b-e17e-45a5-819c-203da201a666 CLINVAR:406663 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2024ba91-ae3a-43c2-9476-9c651856c1e4 CLINVAR:177763 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b961feeb-d977-4668-8b81-3a8194d57078 CLINVAR:177763 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1369c409-43b7-4f1d-bba0-b657706c0bd7 CLINVAR:7826 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5e48f2f-a32f-4db0-8946-656559ea56a0 CLINVAR:7826 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e64691e7-aa84-4430-b365-33615c49cafe CLINVAR:185713 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 333cb37d-ba42-4c8e-8d5c-335948475f2c CLINVAR:185713 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caf8f9ff-1fe5-4358-8616-8458fb4b7030 CLINVAR:7831 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05761ef4-56b2-46cf-9b33-3be43ba49d2a CLINVAR:7831 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81a718b7-fd27-403e-b7b4-be47bacee793 CLINVAR:7828 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a74bf79-892d-4ada-91a4-4988a778907c CLINVAR:7828 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7480e295-0775-4a56-a16c-3beaa4159ef6 CLINVAR:7823 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e73cf0f-9d75-4d9c-b3fb-6c690870c9b2 CLINVAR:7823 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45f59e0e-253d-413f-93db-6489633f4ea4 CLINVAR:39668 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b32d9542-b48e-4c87-9c2d-eb64925da06b CLINVAR:39668 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfbeb897-01b3-4519-8c6b-e131fbc1a856 CLINVAR:140807 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec4db58a-3764-434e-b97f-faa4df74cc1e CLINVAR:140807 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920f244d-f0d0-4b89-a6d5-954d284a089d CLINVAR:92820 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen afa30760-52ed-4fc9-860c-aca4d7f6ea9a CLINVAR:92820 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d04cc82-f2fa-4d23-baaf-e79c88c2d907 CLINVAR:39669 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68978f59-5a15-4189-9c43-bf4e79f31413 CLINVAR:39669 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff13337c-4a10-45b9-949d-035061eccc2d CLINVAR:428271 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4aa4980c-daa3-4247-a89a-e9409a6d1acc CLINVAR:428271 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac906269-564e-4296-967a-7729ecf3addc CLINVAR:428274 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a74e826-7e65-4cc2-a758-924482ad12c0 CLINVAR:428274 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe3c071-b3c2-4f8a-8047-016e58094b91 CLINVAR:7841 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a504498-b80e-4684-8009-16ddeadcd04a CLINVAR:7841 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14903e76-58c2-41bb-adf7-ea338ce0e516 CLINVAR:7849 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fb7a4cf-fb3c-4973-a3c7-e4b9d7d231c5 CLINVAR:7849 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed333d4a-8f68-42ea-9f68-b07537d488c6 CLINVAR:7839 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d7e5dde-978f-449d-b188-796ca4633b63 CLINVAR:7839 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 942a2c3e-7d4e-49e9-bdf5-087ab2f344e2 CLINVAR:7850 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aaf8affc-d6a8-4b77-8433-33f753a2ec80 CLINVAR:7850 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6afa29d-36f1-496b-aa7b-575812ade294 CLINVAR:7848 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c77cfee6-a084-4bf9-9298-7f1d6660062f CLINVAR:7848 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3066d654-c50e-4e61-9de0-bf65f56ca329 CLINVAR:552907 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0355675-c59a-4eaf-bca4-6e5eb62d6b7a CLINVAR:552907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60db76a3-7990-46f8-815c-4455d2d49d9c CLINVAR:619167 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca703b8c-6857-41fa-b712-c019a91e8757 CLINVAR:619167 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f02a1608-e82f-4491-94a7-bb41f608c148 CLINVAR:102567 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 530d7d3f-aad0-409c-a148-7371bc5c3f36 CLINVAR:102567 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cedbc6c8-cb66-4b77-8cef-4cdb868d6e23 CLINVAR:551555 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6cc10493-1f3c-4fad-a15d-24fa24b5a854 CLINVAR:551555 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a68cbee0-9e78-473f-9444-4835896313cf CLINVAR:102526 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 890b48c4-ad12-4579-875a-875ef4aaa8f3 CLINVAR:102526 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2ec57fa-01a3-472c-ab91-a2a1e903f819 CLINVAR:619161 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75d8e484-3468-4738-8839-8ccb51645c2b CLINVAR:619161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38cc0a99-a442-4b4f-b102-7a4511b6f0e5 CLINVAR:102525 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aba245fc-cbb0-4719-bbb1-8b382a4969de CLINVAR:102525 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a79c0cb6-7661-49d3-98c7-406031f015af CLINVAR:619153 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c15493d9-e198-4f46-b41a-f606aab16444 CLINVAR:619153 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf3686b-b52b-442b-a721-3d6fe813b545 CLINVAR:102726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b837c274-ed6f-490a-9fe4-0711d18834a4 CLINVAR:102726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d939007f-6d25-4a32-a843-24761aeee68e CLINVAR:627 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2dda42c3-46ad-4ce0-a00f-92aff3d7e788 CLINVAR:627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51341551-9a12-4907-b46b-c0b96c140929 CLINVAR:208180 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen decaaf98-6de3-4a26-ae60-b73d14580d54 CLINVAR:208180 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 414fe8bf-f63c-434a-bdd5-ea8b673656c8 CLINVAR:225133 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e53ed3ef-f632-47d3-9d0b-5b6c98de74f9 CLINVAR:225133 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b230581-8f76-4473-9206-74157846ceae CLINVAR:633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae1233a3-2a55-44cb-b271-93b8aaa3f87f CLINVAR:633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0eedc267-7ddc-4656-b264-834acf8576a2 CLINVAR:102905 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a39c2ff-01d9-4941-8ba9-9141b622b3ae CLINVAR:102905 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6656ebc1-0235-4dd4-b47d-79f1c6f62be5 CLINVAR:619151 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81a11557-f516-4c53-bbd2-d3092500da15 CLINVAR:619151 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31d2f694-5e1d-49b5-96fc-9e0e17c81423 CLINVAR:619162 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0eead29a-40f4-4fe0-82d6-672a2385bf60 CLINVAR:619162 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb074bf8-bcf7-4448-9944-66e16008620d CLINVAR:619155 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad5d8a85-fd62-436e-9e94-a1a792525db5 CLINVAR:619155 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e04aea0-c6ed-4adf-9adf-6680c6ee59f7 CLINVAR:619157 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d742ec00-6724-4f0e-9a09-37c25b7bd6bb CLINVAR:619157 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8233f22-72d6-4858-bef1-e8362db6932e CLINVAR:102882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a395aa35-bf04-435e-8ba7-5b419492533f CLINVAR:102882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d32272c0-4bae-4e69-97cf-e690bf1a3f69 CLINVAR:102881 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0fa95a4d-cbc3-44bd-865f-3421b996a0f4 CLINVAR:102881 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f11cd7a-c3f8-46d5-ac0b-e027fcde9ed8 CLINVAR:619164 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7dd6520-3beb-46a3-a29e-c3f09e2b436e CLINVAR:619164 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b571ad-9942-4266-9e44-b5754dda5443 CLINVAR:102880 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5178c91-5d5d-47ff-9aa2-227566170afd CLINVAR:102880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b97b9aff-2cff-48ef-8db5-1d919d10007d CLINVAR:102877 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8cc7609e-db8a-4325-979b-c08ad3c32318 CLINVAR:102877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eddb08bd-3381-4069-9dd0-f2ad127f80f4 CLINVAR:619158 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e67b4b6f-491c-469a-8c5e-344b4ed04dcc CLINVAR:619158 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ce8501-c7c9-4655-9830-7b7a36a8453f CLINVAR:619149 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen efca73dd-ac3f-4d48-a7ff-beef3911fa66 CLINVAR:619149 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e058e4b-19a8-49b2-be8d-7a8224bc0edf CLINVAR:619154 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66454265-7712-4920-be99-953f16fc57d9 CLINVAR:619154 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207268b2-b7e8-41bc-94a1-3bd1bc7f8c15 CLINVAR:120279 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05f78c24-a96f-4183-86df-94f32f6bb86c CLINVAR:120279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dd97e47-1e16-421b-a2c4-98918dcff24e CLINVAR:102694 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec9f0ad7-3bad-4fd7-b91e-04620c1f0d60 CLINVAR:102694 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caeb4558-0f24-42ef-8e6d-c9d4a8eb2abd CLINVAR:102667 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c260c5f8-4422-4c13-b718-ca2bb660d62e CLINVAR:102667 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e38bef-7484-425a-ae0d-bbb7d3f66b0c CLINVAR:102658 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb21ec15-af26-4bc0-bfe7-7b69a1e4f8f1 CLINVAR:102658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04711ba3-0bcc-4c40-ae3e-3db957f8f0ba CLINVAR:102620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e001cc3b-e012-4e35-aa19-007727c57140 CLINVAR:102620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf745cb9-0627-4fb5-854c-97c51da503ef CLINVAR:102619 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a8c7df5-5628-46b8-b2ba-a8f8e23ec8f0 CLINVAR:102619 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a68982c8-8c60-4d8d-b5c5-9cea1ec80020 CLINVAR:102616 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02f2d711-da24-49b0-b77d-0d8e79dc291c CLINVAR:102616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0647d436-7347-4396-8fb3-1f875e7f4f4b CLINVAR:120266 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32b5cb78-06be-4990-a5ec-252ddebbba2d CLINVAR:120266 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7bddcd4-a196-47ed-a32a-ad97139f54dc CLINVAR:619156 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67aad8af-f96b-4ef6-b195-49ed06ab451d CLINVAR:619156 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad66e4c-a1c1-4eb6-98c6-2e4f4bac953c CLINVAR:619148 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d374e24-92e1-4f1e-ac82-b8e6ad631225 CLINVAR:619148 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7b83ac5-fe82-4724-b239-23f02260b019 CLINVAR:619152 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d09a505-21c1-4f8c-953a-dfe832809771 CLINVAR:619152 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b82aa8-bd35-4645-8856-28e65229761c CLINVAR:102850 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e818fc87-d093-4b51-857f-a1a1c743546c CLINVAR:102850 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cde9900-7bfc-49d0-986c-da4ba61227e8 CLINVAR:102849 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf86fe33-4265-4ba7-848b-94e58f783d0c CLINVAR:102849 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c89674eb-8770-41a8-bbca-43de32b11bb7 CLINVAR:102623 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 587d985a-b48d-42bf-b2b8-8063e01c4d0c CLINVAR:102623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fbaa570-e9fc-495a-9424-4c906fa5b522 CLINVAR:102817 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4e3ef97-9202-4e44-bfce-c7da1e6f85d4 CLINVAR:102817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c4eb19-eb71-48b9-99ab-31435b0f5379 CLINVAR:102816 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4cde6207-660c-4456-8452-43c1f4816d21 CLINVAR:102816 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6caa83da-e232-4021-9746-f46cb773206f CLINVAR:102815 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 665b1d24-c09e-4eff-bcaa-3d5542338e00 CLINVAR:102815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d3b8434-c069-4ec7-aebd-14b3f0c4f1b1 CLINVAR:619163 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83bdaa1c-419a-4d83-a227-ebec85acd69e CLINVAR:619163 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3351677e-7ed8-4aec-a4bf-45ee5a7f824c CLINVAR:619160 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9972bcb3-bf49-409b-990e-3a06d94e4306 CLINVAR:619160 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8327ca2e-ee87-484d-a8d0-0bd6ac1559e5 CLINVAR:619166 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27ef97fd-b118-4eea-b88d-d7b6eea15ef5 CLINVAR:619166 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b101d9-25f0-414b-8e0d-613f80104fae CLINVAR:102772 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd7ed9ae-5089-4aab-b058-9a450373d33f CLINVAR:102772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be7f6ef-9fba-4ad2-af54-8b493b61e717 CLINVAR:619165 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3dbbaf0-aa2e-49b7-afab-c915aa484c58 CLINVAR:619165 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88b2dad6-fe28-4d50-adc6-18c3b3dc747f CLINVAR:556296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c37a2f44-c919-45e4-ad34-bed74d727a3b CLINVAR:556296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0859d47-d201-4dc2-b028-0973fc40eac3 CLINVAR:102841 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63fc510c-02d6-4793-ade8-246425e11482 CLINVAR:102841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d160fbd-d228-49f9-acfa-89ec5781e4fc CLINVAR:102840 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0bedb4d3-861b-421c-97e8-fa845a932dab CLINVAR:102840 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e521dc03-bd0e-4ee4-ad02-a9c55d1a085b CLINVAR:102839 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8e2679c-7715-4d55-a210-60c1da519775 CLINVAR:102839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e220b4-e66e-43c3-94d2-388609d2370c CLINVAR:370701 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c01f1d8e-b88a-4f90-b4c9-75168ed35489 CLINVAR:370701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e61ebb8-e913-4a8f-a264-51ff4c669b42 CLINVAR:120258 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd843cf3-7903-4be1-b6da-60750a3fd51c CLINVAR:120258 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d2accfb-bcf8-484f-90d9-0ecfb85cb6bd CLINVAR:102767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 670f157b-700b-446f-b2d9-d43de08d0707 CLINVAR:102767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6883d40-5852-46af-9cad-92ca330dba2c CLINVAR:102604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24fdbaf9-5e4c-4f33-801d-6c0c269b7a4a CLINVAR:102604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d1a084b-f819-469a-91d3-457b75a31a41 CLINVAR:102588 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a859fc8-0433-4842-b69c-b5fd5c0f5573 CLINVAR:102588 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 769a9770-f356-4d1d-a0d8-e834416ae8b3 CLINVAR:102857 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 789039f9-9750-4776-9a89-c31ca19225f7 CLINVAR:102857 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddbcb73b-f427-4fb0-81b8-895485cb23f4 CLINVAR:102856 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5adf2aca-5abb-430d-b947-7497aba5fc25 CLINVAR:102856 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d89edc8-8386-45c2-9b6f-ecc00a8b7798 CLINVAR:102854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09348bb4-2dca-42af-89ed-fdee59e60a71 CLINVAR:102854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 964d4274-0044-4bd2-81b8-ac9906a6d283 CLINVAR:102853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7624bd7d-40ce-42d6-b6bf-4607f6faa287 CLINVAR:102853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2701d827-b72e-4abe-875b-6d746b3eb9a2 CLINVAR:120286 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa703968-a273-4839-bbcf-f0b93b035015 CLINVAR:120286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91c2a290-c0e2-4a68-85ec-ef3fb5add5bb CLINVAR:619150 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2edb7fb8-f71c-4e42-93a0-4f3935ad75aa CLINVAR:619150 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f580e3a7-eb14-41b7-baf7-3066da4d485f CLINVAR:102833 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59a80a70-9d0f-481f-bcc9-811d88e3669f CLINVAR:102833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20de8d99-5f27-41c2-a858-429c2d402e95 CLINVAR:120285 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff569851-afda-49cd-8ab4-6233a0704bf3 CLINVAR:120285 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f17cc5b8-570c-41f8-8251-e7c3be9cd7d2 CLINVAR:619159 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 091afc75-0cf1-40b8-82f7-5471cddc72ac CLINVAR:619159 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 392baba2-b1b3-49ba-8027-9f984ec00b50 CLINVAR:587 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d40051a7-0cd2-4a03-962c-f8c1ef5e1540 CLINVAR:587 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29f5362-8bbd-4e31-ac69-222377b56a12 CLINVAR:102842 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17777179-afae-474d-adff-8fc9a8cc644f CLINVAR:102842 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca075d35-e386-4aef-9fa3-28ec8c539519 CLINVAR:102823 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3394b1d-76f0-44cf-8df5-f274caf86a87 CLINVAR:102823 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b66877-36a2-47f9-968a-c2eaccbc79ae CLINVAR:589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2963c1ae-571f-4407-b0f7-830846a0a727 CLINVAR:589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a538cca3-ad00-422e-be48-359611342ef8 CLINVAR:92749 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c781be93-83f8-48b4-a74a-b3d9151c5c58 CLINVAR:92749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4526ee57-faea-4aec-ad16-84a9de12f6ee CLINVAR:46014 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8249a3d0-b05b-40e6-a3aa-01fc39ad78dd CLINVAR:46014 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd2b76d5-2fb0-4229-bd83-303062475afd CLINVAR:6611 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f44df827-a561-4fe7-b643-1cd44493c331 CLINVAR:6611 biolink:is_sequence_variant_of HGNC:2180 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc749dd2-e841-45a9-a4c9-f0a176b413e0 CLINVAR:447450 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffa1b94b-ab61-40bb-9a23-9d3c73179872 CLINVAR:447450 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f69b0bf5-307a-4776-9e79-a35fa10575e9 CLINVAR:555720 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90d940d3-cf2e-4463-967e-58f945f0a09d CLINVAR:555720 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 434cd738-c95a-4d5f-adf9-f5054b0b0065 CLINVAR:17002 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ee30fc9-0b90-421c-a0e6-69cc18fb9513 CLINVAR:17002 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d5718bd-55c8-4fc6-b6c8-7a0b3c02817a CLINVAR:4840 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab9c26c0-c012-4dcf-8954-6e00e4a06fbd CLINVAR:4840 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ae57bf2-2a27-4e7c-a5a7-d7e94219df74 CLINVAR:17010 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 477a2608-56c0-4647-8bcf-dd55e5749a03 CLINVAR:17010 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d39bf42-80e7-45e0-8be5-a83a39a61fdf CLINVAR:375406 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0382fc3-1f8b-4b88-ae8b-d086c5877665 CLINVAR:375406 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c7c684f-01a6-470a-ba4b-7f5b289128ee CLINVAR:43555 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 575960b1-2a35-45e2-b0d0-baa6e859241e CLINVAR:43555 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4a4ef83-3590-4cc6-87d6-2ff0f8bdbcd8 CLINVAR:48535 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00c37204-8272-4fd2-b47e-96a972209610 CLINVAR:48535 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d62730-703c-40a8-a635-fc98c9fa6375 CLINVAR:6241 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10b239d3-7e75-418b-a80b-3ccec90100ec CLINVAR:6241 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d656824-1c3b-4b4d-baba-b4cc31b36fb8 CLINVAR:43498 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f4768b6-e8e1-480c-b079-52af0dab64c2 CLINVAR:43498 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7477eebe-58cd-43f5-8dc2-d2ecdb321c8f CLINVAR:4835 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ecf73fa-533b-4f4f-89cb-90d671d0a359 CLINVAR:4835 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90c0a904-44fb-4c58-a49e-ae183f416e1a CLINVAR:166504 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ebcdeeb-72f6-43bf-93a4-2bec90745f83 CLINVAR:166504 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ca9a2e6-d809-4d49-b7fb-1751da3da5ce CLINVAR:2353 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca543904-37f7-43b1-8efa-7edf142d92f0 CLINVAR:2353 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f03eb8-cb08-4fb1-a0fe-314d71f118c1 CLINVAR:48604 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5dc5b2f-546c-436b-bead-932f9b82cb40 CLINVAR:48604 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56c9fd00-5e05-442a-88ce-c7191e2986f4 CLINVAR:43565 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c63822e-6ab6-42ed-80de-766393bf8557 CLINVAR:43565 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98f97789-1957-4a28-935f-cc27c5bd87c6 CLINVAR:48347 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b322e3dd-735b-468d-9453-91b05ee95fce CLINVAR:48347 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82d04eb8-4319-4e12-838a-c2386da8f65d CLINVAR:197510 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79705205-1391-4931-a9aa-279d3a3b6ce0 CLINVAR:197510 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2afb495-53e1-4439-a0e6-232c438fe480 CLINVAR:189148 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12435c8d-15f5-43c2-a355-2128f8e39365 CLINVAR:189148 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04fe45ab-8303-427f-9f8d-7677690a7932 CLINVAR:449088 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 934233f1-bd28-4196-a65d-c6aa9fc14f2a CLINVAR:449088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a5c6a44-3aad-48cc-9337-8fa9d443f01f CLINVAR:102661 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 62600a9d-738e-460d-987b-11544af5c2c3 CLINVAR:102661 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc3f1800-8b8b-4067-a130-74a769d77f8b CLINVAR:102858 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8de6d86a-73b0-46e4-b5e0-353b1fe2c698 CLINVAR:102858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 612e1d0c-98a3-4908-8021-36eafd24720c CA16020876 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9a2a32a-b1be-4ecb-9f3a-b8968aa61f92 CA16020876 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f4dddcb-48a6-4777-8bcf-6d97f2c5202b CLINVAR:102889 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2eeb6a6-25e9-4e7e-b75f-d21b7ce2a869 CLINVAR:102889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1f14d1-f307-42f4-9759-5313a7d976cd CLINVAR:102584 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df9cb48d-ac64-4ca4-b7e0-679e57272b1d CLINVAR:102584 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6395648f-a70a-402e-8d03-263c5aeba517 CLINVAR:120274 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 259d2bdf-ccce-434d-b7ec-6f950ae51cc3 CLINVAR:120274 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b38f9dcd-5cf1-4f2d-90ca-10225974f4fd CLINVAR:102689 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c22840d-b9da-47f5-a12c-e0bca701f636 CLINVAR:102689 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1b9ee4b-51b6-4f16-ace3-71b05f0f5204 CA16020719 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f21eb57-7aa9-423d-b030-372e8e14dfad CA16020719 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44eb8942-ffd8-4b60-b645-457d2074802c CLINVAR:557124 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3cd94f4-42f6-4c3a-bc25-1061bfd3c808 CLINVAR:557124 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eccf256-32b6-4777-86bf-b87fc4430742 CLINVAR:102744 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bfe722e5-bff5-4d3a-a65b-2aacbdf974be CLINVAR:102744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431bf886-bb8c-4428-a84d-cfca2f6e38be CLINVAR:102581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 525ba3a0-dca0-4f54-a4fb-95b57c6b669a CLINVAR:102581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6445b5c-b7fe-4cbc-8c04-106de0f2e161 CLINVAR:102660 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80ab7739-69e9-4476-861e-3279ddf2057f CLINVAR:102660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5acab077-5ff5-4ccd-8798-343080fa7144 CLINVAR:102686 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83d55ad2-3054-4cd8-af07-9e651ba7d8b9 CLINVAR:102686 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2de9a53-79b9-42fb-8940-a03f4e3e16f9 CLINVAR:102700 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 027445f2-bf01-405a-927a-f2543c79f0c4 CLINVAR:102700 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a44f58b6-ec13-4867-a601-e60943123576 CLINVAR:102701 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 389b7e07-6c49-49f5-a686-bd6bb2147ada CLINVAR:102701 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cec31e0-3437-46d9-bf70-5df5c801897e CA16020800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e407e644-87eb-4c89-ac16-c3633d4b99c7 CA16020800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81d3690-4ff3-437d-bfd3-6386763e5385 CLINVAR:102702 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b11c3a32-d925-436d-a085-7bd6c411aa8e CLINVAR:102702 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 662e4af8-2015-4241-a2c7-8cd0238dd5d0 CLINVAR:102721 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa46b4d8-dcb8-4cb4-bb1c-759a8f4d5010 CLINVAR:102721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a77c823-722e-4eb5-80ab-31c2c515305b CLINVAR:555366 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0450967a-743a-45cf-910c-eb446ecfc545 CLINVAR:555366 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 867a4f4c-54ee-4aa1-97f4-fac4fce6597b CLINVAR:608 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fce8b98a-2d74-49a6-99bc-d7a8afcb08ad CLINVAR:608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c65bb6fd-1410-4381-b1d6-7985dbb4aa7c CA16020761 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 669ae84a-6ca9-4a15-b03b-802777f13e4d CA16020761 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91fb9574-8eeb-4214-b9d2-1ea995a97b80 CLINVAR:102873 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f435786b-9af8-44aa-820a-2aa695d958da CLINVAR:102873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cce250c-5c56-49b6-970e-7c44329c19e9 CLINVAR:102869 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f66baff-96bf-43dd-905d-43260c31800c CLINVAR:102869 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 138df074-94c4-43cb-80f0-26cf36895392 CLINVAR:102670 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27946945-bbdb-43ea-86a7-96de695c9ee6 CLINVAR:102670 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2db7ff4f-6c74-477c-88d3-7ed31952c2b3 CLINVAR:102735 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7950d62-650c-4f40-8ef8-3b49e535785c CLINVAR:102735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4413e2c8-381f-408c-ab5d-095f3386e395 CLINVAR:120280 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db58a788-3be2-4a10-a101-1bd2c8c84283 CLINVAR:120280 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c544739-b52f-4105-8758-b8a96dcf5af3 CLINVAR:133314 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4176223-1ff6-4915-89a9-cb5cbe184058 CLINVAR:133314 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e29827dd-4e22-472d-8005-0fb17948e435 CLINVAR:597 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc6a4a80-5ebb-497c-aeea-8b59033c27c7 CLINVAR:597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 644d8951-d76f-448e-9320-400839c6f309 CLINVAR:120265 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10244c02-0e61-4cba-af21-b47e51825d4b CLINVAR:120265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f1148f-e745-4230-a3fd-63e33dc7cf3f CLINVAR:102605 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ce7a141-00e3-4b24-b5c3-e29fd746c131 CLINVAR:102605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73de33b1-64d9-4215-9602-434e129caac0 CLINVAR:120270 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14a1043f-aff1-48a3-ba63-64a711997068 CLINVAR:120270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc698a6d-3ae3-4333-87d4-8e4fd8de14c0 CLINVAR:120277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc6c7ea5-07ea-4fba-b69a-24d64e285fc0 CLINVAR:120277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b4047d-800f-4963-8136-4bf5c597af9a CA16020871 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aee366b0-9562-4807-9281-ed201b20bad1 CA16020871 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7116691a-819e-4525-88cf-d2340f9942f0 CLINVAR:208182 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e52e9ee4-9c78-4008-88ca-4de208a78914 CLINVAR:208182 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca8cf1dd-6528-41df-b52a-b1f34a6d0faf CLINVAR:40447 biolink:genetically_associated_with MONDO:0009026 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12e4c0c4-fdf0-48e0-a44d-23f10c0dd117 CLINVAR:40447 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc2822f9-6ba2-43d3-8a09-558434543c1a CLINVAR:40347 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c024fa1-92f7-4ace-b54f-23a6c903a426 CLINVAR:40347 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6e31e40-1866-4a93-86ab-f72cb96b47b4 CLINVAR:40348 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc68235d-6bc7-4588-a6ec-65ca537015b0 CLINVAR:40348 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 869387d5-3f2c-477c-bfb4-733d3878c348 CA281951 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3b248f5-f848-4101-ae05-40e12be0d52e CA281951 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e7de925-5530-4f7b-923c-9c8015f40ac7 CLINVAR:180784 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0eca4f1-e8d9-401b-8d53-2dd8e5e7bd7a CLINVAR:180784 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1823754-9df6-4cdc-be59-33d5130516b1 CLINVAR:55793 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b480ad34-4044-4a8d-8b2f-153d701519de CLINVAR:55793 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b69d111d-e657-42fd-928e-df15edefa0ce CLINVAR:44830 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29d889b9-6503-4e78-89ab-1516ecc659f9 CLINVAR:44830 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52a095c8-7c3d-491a-a2d6-4736248e21d6 CLINVAR:477669 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc465ab3-c636-4e26-a3ee-d819068071a1 CLINVAR:477669 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fd2c8ac-f0b9-4642-8b82-9d822b2a26c9 CLINVAR:40485 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b3e9afd-5b15-490d-bb4d-038b5bb42273 CLINVAR:40485 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65c2bd05-e129-447c-956c-eba2f4fad9cc CLINVAR:543999 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b77bc3a-7371-4de5-b5ea-51132bf04d31 CLINVAR:543999 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 522f35d1-13e8-4d84-87a4-68be422909c2 CLINVAR:40818 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1a6111c-158e-4015-81b0-fe963d50f55a CLINVAR:40818 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2d4198c-a964-47a4-9cfa-fe3cfd73272e CLINVAR:40562 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1976816f-ba6d-4e67-ac68-8eb489ff2b12 CLINVAR:40562 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5faf1c0-98ee-4d84-a355-1458143d97a2 CLINVAR:40513 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3d9ab9b-05bc-4bb0-87bc-f383800e6492 CLINVAR:40513 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 807cb221-ec2c-4860-8280-ca27ee35d62b CLINVAR:17000 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79a1a21c-b1be-4bb3-8645-c7d15d5570c4 CLINVAR:17000 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08dd4074-387e-4bf7-8184-f0f9b864d7a2 CLINVAR:203873 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 783ebd8e-292f-4e0a-849e-20c8e15c4418 CLINVAR:203873 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62dbab3b-b1f9-4660-ac6d-505e23c70481 CLINVAR:585206 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae7290d5-07ba-44b9-86d6-305bc1f6449a CLINVAR:585206 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e073628e-12b7-4469-8d11-a0275ee4d2fa CLINVAR:102626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 463d69fe-ac85-4632-bcb1-242eab0ae206 CLINVAR:102626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 500f8331-63a7-45a6-a978-713c3064252e CLINVAR:102647 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a15f4ae-211f-47bc-a579-875fbfff8a99 CLINVAR:102647 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3d460d1-3b0e-4bf2-9559-04ade22ea7ff CA16020886 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5aa9ffb6-fd56-417f-9090-532089542ba2 CA16020886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64f4f339-ddd0-4d2e-854d-d4f341e2337c CLINVAR:92750 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bbdf6477-cb1a-4a16-b3d6-737ce4a360e6 CLINVAR:92750 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e41a1ed-3835-445e-a9e4-86795fed94cc CLINVAR:102885 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a3327f0b-1c06-4eec-9fbf-a807cb5ac7ee CLINVAR:102885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc509ce5-8801-4931-ad6b-4e87c5d4fc19 CLINVAR:120291 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 386b3690-3cc7-481a-ae03-7363856f4edd CLINVAR:120291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cef84b7-3939-49a1-b10a-c1fef06254c4 CA16020885 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9256b70-e07e-4ac9-bbc2-e8bbc4e76b0a CA16020885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81109620-e48c-4962-a1e2-42a2f2c61ffd CLINVAR:120297 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7da16d6a-b739-4dd0-8521-b8ceced0399c CLINVAR:120297 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a53e880-2685-48c6-bc9b-b89838bd3049 CLINVAR:120288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69f33efa-51e2-41ee-b809-7705ff14f9f9 CLINVAR:120288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6890ea7f-fed3-4f64-b59e-36bf295818b2 CLINVAR:637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 581c4300-d7c7-489b-a260-75418911c716 CLINVAR:637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 417ef539-b01c-4e55-83d8-de85f4251669 CLINVAR:102884 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6719d35-f253-4a30-8e47-b9f9a30ffaf9 CLINVAR:102884 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06698e40-c98a-48b7-a032-9fc4fdd27813 CA16020846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d2d6dd9-645c-4fc2-9e85-3fa9c6dd0487 CA16020846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afb39c69-a3a9-4899-8f91-79ecc2a990d4 CLINVAR:102886 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f384b774-be1c-4a8e-8edf-b57e9ebdf1a9 CLINVAR:102886 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3fcd542-2a7f-4cf3-9b89-5405b4e9b282 CA16020889 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 133b46ed-c87e-408c-ac91-ae472d856288 CA16020889 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4295bb28-b5f7-44e6-8214-ff6d27cb8759 CA346365197 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c911999b-46cf-4e1e-98c8-6a042336a6d9 CA346365197 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cd9116d-1356-4467-a6df-f35cf20b7862 CA891862608 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa2a4556-296c-48ae-9349-cd8fee2e20e7 CA891862608 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 206ac3d7-da5b-47f2-993f-7aa07ed15fb8 CLINVAR:45373 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1de46fc-649f-4dfc-bf77-6fea2cdf6a6a CLINVAR:45373 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66583fd8-3d9e-44b0-b870-6b6f2ac93340 CLINVAR:8273 biolink:causes MONDO:0015280 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b3e6e0c-bce6-4826-9d2e-70a17e7f59c0 CLINVAR:8273 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483ace3c-1049-4916-aaf8-1657d681a618 CLINVAR:13331 biolink:causes MONDO:0007893 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3be1816d-f981-415a-98e2-2a0b4b38dce3 CLINVAR:13331 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e75a8e70-36d9-4a7c-9b87-5723f710f742 CLINVAR:13333 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d317754-8158-4ce1-be8d-bfb69fb1aef3 CLINVAR:13333 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39826331-4c54-4ba0-819d-e391873471a1 CLINVAR:158604 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea5c7bbb-9ece-45cb-bf93-85c93b73eabb CLINVAR:158604 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90b50c6a-0cdf-4c4d-8720-5c664e70c650 CLINVAR:162956 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14472060-7da4-4328-a23e-897bec546035 CLINVAR:162956 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2db091e0-92b9-4f49-bcd3-568a36bf3d8d CLINVAR:177732 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bdc41eb3-07fc-4964-b41c-67e9bb91c7a7 CLINVAR:177732 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c21c2159-85f1-4b01-8a55-6c01afb98a21 CLINVAR:44760 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bea6b13e-8a2f-4b07-a391-92a36ec70c3d CLINVAR:44760 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863a3e75-66ed-43d4-a1bc-9a1f7f3e7ca7 CLINVAR:4838 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbe688a7-87b7-4b9a-8619-05bea28a2141 CLINVAR:4838 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a974841-eb44-4f66-b6c8-6f39d7ae72da CLINVAR:17023 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88d15136-c79e-49dd-ad80-e1b6b9695124 CLINVAR:17023 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f46459f-9288-4c08-8bd1-73c9ec3a2cd1 CLINVAR:120260 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb55b079-69d5-48bd-a828-3420fcb3249f CLINVAR:120260 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75545b4e-b823-4802-bd67-c7546ececdb7 CLINVAR:7817 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e6015c6-2c96-49ff-93ce-8abf02ce811f CLINVAR:7817 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8897d679-39ee-4a0b-88a3-5bdb92cc1bdc CLINVAR:223142 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5b19213-abd4-41d0-ad74-a79171c27b36 CLINVAR:223142 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96b2f856-be17-4e2d-b9f6-cb3c41534031 CLINVAR:375958 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8611b710-319d-49cd-b2ff-3329bf9df703 CLINVAR:375958 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ef4a341-5054-4e3c-acb6-ae5810bb8177 CLINVAR:375959 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 887c5efd-1d87-4ca0-8c58-4a409e81252a CLINVAR:375959 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a807befe-fc55-44f8-8d9f-f11628fc08e5 CLINVAR:189403 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26cd93ff-b33d-4d20-b70a-afb8394c6820 CLINVAR:189403 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfaaca7d-9ecb-4c96-95d3-d856a96e3bdf CLINVAR:187827 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c87294b-99c5-4d2b-b257-7fd0d2f2a38b CLINVAR:187827 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 347a1020-f61c-4728-9970-6e683e55c49f CLINVAR:142212 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65359533-a87f-4ad2-84c4-93e0bf9d6e17 CLINVAR:142212 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5856020b-0c49-4488-8ad1-9a71bce78c2b CLINVAR:237639 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee20405a-6a68-489f-92a0-8b1890823545 CLINVAR:237639 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c3aa41-d3ee-40be-b7d3-43f50c27dbe5 CLINVAR:184466 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b8139f7-ba93-401d-99ed-970dad0f73e0 CLINVAR:184466 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae5b486-bd9b-41fb-864f-db4ade2cfbba CLINVAR:427623 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e365a7e2-c53f-495d-a16f-151d69f04704 CLINVAR:427623 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b6e9534-61a4-4f25-b30b-899fb32d24c9 CLINVAR:372481 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e02c0e4b-0c60-4d5d-9cdc-909cd2f0db1a CLINVAR:372481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90d38221-e80b-401a-8311-1adc0db6fab5 CLINVAR:372482 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8deef65c-9cf9-4e5f-a0ea-3585d033cd1c CLINVAR:372482 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b658e669-9740-400d-93f4-55525ecd90b8 CLINVAR:184844 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55520aec-9a9f-4cce-80ac-b7276738d249 CLINVAR:184844 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e7fda33-ae6d-4721-883f-3fe0bacdf0a8 CLINVAR:376510 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82de12c1-0c2f-457c-9bfc-897f8dc273c9 CLINVAR:376510 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2650c746-9e52-4053-a54a-aec33f4de3a5 CLINVAR:139567 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a33e4740-5ff2-4f11-aa04-59b0c5f61b5b CLINVAR:139567 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f9c06ff-f8aa-4329-8da9-793c6159980b CLINVAR:237643 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6cf653d-2010-4e2b-b5fc-0044cb339138 CLINVAR:237643 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b15313b3-c38f-4a94-9aa5-ed4841f79345 CLINVAR:7843 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9e65755-f5dc-415c-8b29-cba00fb4400b CLINVAR:7843 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ca76df-6019-4585-b077-3bb942f57c42 CLINVAR:428216 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8627ed5-5b10-4fa6-a4d1-b67fe85202a7 CLINVAR:428216 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c00fcd17-db19-40c2-84bb-8cb143139c04 CLINVAR:7845 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2630c16-8909-48b5-bc3c-01ec53408bca CLINVAR:7845 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa4f9b0c-14a0-4668-b044-06cb6f59c2a4 CLINVAR:428206 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 35694159-4eb2-43ee-851d-068e3d025c45 CLINVAR:428206 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c11d4440-1b39-4e15-81fb-1ff950414f12 CLINVAR:7825 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7552f40-b2af-402a-abf6-35eb834c5211 CLINVAR:7825 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b9e1812-46e1-4a61-b82b-6063a536639f CLINVAR:7821 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5be862f9-1094-486b-b4b1-ad8c66d03847 CLINVAR:7821 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 834fac6a-0792-46b8-8287-c4897452bc42 CLINVAR:7822 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cbdad26e-4cdf-4431-9eb1-77e3874a1790 CLINVAR:7822 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 961d5613-292d-48b0-935c-25ce5def6c9f CLINVAR:7840 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af534d82-7976-46ce-a435-ab27b5d87a45 CLINVAR:7840 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e11c9bc-a1e4-4177-bb25-312e91bffd2b CLINVAR:186427 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1ad1069-7b27-4d87-9296-bb7686a0ff68 CLINVAR:186427 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 715d3ef4-03b8-4c21-b8c4-4dc253b7fb0b CLINVAR:142261 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02d18d6e-2381-44ed-8655-b516a0356820 CLINVAR:142261 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0e31779-3dca-4dcd-8be7-4d3f1012a316 CLINVAR:186161 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3556d68b-a792-4fce-8b1b-1052fcfac3b9 CLINVAR:186161 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2eef978-bfac-41b8-bf37-450f9537b318 CLINVAR:184878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72c29b77-e5e9-4a2c-9e5c-d088f8a11d70 CLINVAR:184878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4bf336f-9406-4d0b-a25b-a67ee7a1e84d CLINVAR:127696 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ea8586c-b5e4-4274-a2d9-185c71385e2b CLINVAR:127696 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5016923f-6f44-4678-a1bd-6029a81dabe9 CLINVAR:45304 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19928dbe-d4eb-4424-8b68-6a399973c08a CLINVAR:45304 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19bf20c4-c7e0-43c9-b943-571f1ff43083 CA16020890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2bacdb0c-0d98-4f8e-b37f-c5807e105609 CA16020890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a313ce-a461-4d52-adf6-ef48e3ec7317 CLINVAR:376018 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7506ec66-21c9-48ef-8969-412f2ed190c3 CLINVAR:376018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b4ebbce-ba6d-4d78-957a-b73083a35d6d CLINVAR:545522 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3be5aa97-efc1-4c68-888c-3ca41a0624d4 CLINVAR:545522 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54ac7d7-a3b0-44a5-8410-147de4b72185 CLINVAR:14467 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd57af18-e2fe-47d7-8eaa-ef0bb27c7ccb CLINVAR:14467 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8914a841-a157-423e-aecc-ee111e021879 CLINVAR:561222 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61402e1d-8607-49c4-8c9c-9daffd9a9ceb CLINVAR:561222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 357ced7a-bc57-4589-a362-c09888ec5ab9 CLINVAR:14465 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 546e1926-dac3-48c6-9ca3-1abfc6736ecd CLINVAR:14465 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6cf0d20-fd8f-4a89-be03-045d262817f3 CLINVAR:429813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d166410-8829-4101-806c-c92a380840a2 CLINVAR:429813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 382fcaf5-af5d-4a23-8a8f-28078c70e4ed CLINVAR:14468 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79838c3f-7cb7-4624-83e5-e855cc86aa30 CLINVAR:14468 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b4d591-c144-4ebd-a7b6-8bd3592a2f71 CLINVAR:14471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a31917e2-f966-4c56-a96a-551635cdcb5a CLINVAR:14471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b9f20d-6c17-46c5-8c9e-eefde4141fd2 CLINVAR:417961 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac7bde61-4ed2-4681-9bd4-299a149df061 CLINVAR:417961 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5c088bb-86cc-48b6-8b99-72bb59cec86f CLINVAR:212089 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67783580-da1e-46f9-8d64-47b38f40ea6b CLINVAR:212089 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6408539b-d2f9-4ae0-8781-15be35af47ef CLINVAR:14464 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03f35974-ac30-45f1-8930-00be853f3e72 CLINVAR:14464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5769a976-7305-482f-add9-9c8ac594f4b2 CA410146870 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0ffb425-b5d4-4fec-b060-2adec749f022 CA410146870 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebbe2a9e-e28a-41de-91dc-4cd616a97403 CLINVAR:463988 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfb7c9d3-4f7b-4edc-9542-1cbef2b1bf25 CLINVAR:463988 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32272777-fa57-411b-95fe-c2cc6609a4ce CLINVAR:14470 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff8f8cb3-33ce-47d8-a764-86298e4f326d CLINVAR:14470 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 139498a1-566b-4959-9985-6dbdce6dfbd2 CLINVAR:436616 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d4e4e3e-54f8-4987-87d7-ba4cca60b18e CLINVAR:436616 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c7da5c6-c8cc-48bd-b5e0-1ee36c2990b8 CLINVAR:14463 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12f69027-b4a4-408f-adcf-6d0bdc9f5bc2 CLINVAR:14463 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28a4e18f-613c-4d80-94dd-4d3c787967b6 CLINVAR:409822 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9fdcde5-ba51-45cb-8719-57ae0912a844 CLINVAR:409822 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b3ce841-20b7-4b37-bf80-76d9da6fbcba CLINVAR:14466 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 077f3059-7933-44f9-8cd2-437c17995471 CLINVAR:14466 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f4985c-cc8a-4acf-ade3-9dfca691e6e2 CLINVAR:532664 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d100c7f2-77e2-4a21-8d5c-80a4a8ad2f6f CLINVAR:532664 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e1b5462-8cfd-459e-8131-11f93b0be50c CLINVAR:339874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44b55825-182b-4a91-a83e-6f3b5ee1253b CLINVAR:339874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5007759d-d829-4ddb-880b-b0a84b49368c CLINVAR:436611 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5848770-c64d-4656-9d84-506605b47510 CLINVAR:436611 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66f4b5c7-f072-40ce-a240-33a888667cdf CLINVAR:532662 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf8eaa13-c63b-4684-a754-3c8aace09bfd CLINVAR:532662 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c126958-458e-4c87-9164-5823587e20b1 CLINVAR:436618 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63b0cf1b-5b56-4952-8277-6ad0701cfcbd CLINVAR:436618 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a472587-ca2b-4d77-ad54-6146c5b6ad22 CLINVAR:239044 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9f27dcc-3035-43c2-8b43-64b03833389a CLINVAR:239044 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc39b743-b3f8-4c1b-9c45-8334a1774faf CLINVAR:339878 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8016f9b1-d452-4627-ac9a-58719e4af3b2 CLINVAR:339878 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62a4f3a8-ba7d-4153-ab58-4e25cbd8e85f CLINVAR:532659 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4f8a80f-c036-4d5e-ae65-3988a6f62790 CLINVAR:532659 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ed6404d-cbf1-45b2-bd44-7311f462ac2a CLINVAR:561246 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa520108-3f0a-4f72-b452-1bfa09f62912 CLINVAR:561246 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28023ae0-47c2-401c-ace3-e4eb19711bf2 CLINVAR:561243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 317415ac-ce12-46db-8c25-70438d7adde7 CLINVAR:561243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb181502-acef-4b1f-b8d7-d93af7edf2fc CLINVAR:463994 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4de1f675-2db8-4669-adb6-0614d2974a2b CLINVAR:463994 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f387aa0a-c5cf-4ce2-85e1-cae8d9ee00b2 CLINVAR:532671 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c3b6a2b-968d-4662-8247-8713273f1dac CLINVAR:532671 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0888d1f2-f16d-4ff5-aac5-ae1ffd25c677 CLINVAR:436617 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e31c7326-e1a4-42c7-800b-e929ba697901 CLINVAR:436617 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b56beefd-a092-4870-a8bf-434801e32f77 CLINVAR:561233 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d5a01c4-7d5c-4b35-9cd2-b69f67f01075 CLINVAR:561233 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c97cbff2-4d6f-4ca5-9957-ce4f7fb8015f CLINVAR:666274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 745af1b8-3bc3-4156-9a81-6a32db3be985 CLINVAR:666274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23a5d4ad-f047-497b-8bf6-50e145d2b4a6 CLINVAR:417477 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5df904b9-06db-42ea-b210-4288e5cdd141 CLINVAR:417477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfe650d5-7555-425c-bf07-71f8ed06884d CLINVAR:463975 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54e7ec63-640c-420c-95dd-307a9b13241a CLINVAR:254081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 259d6192-69a3-4553-b1fe-6a99aa377013 CLINVAR:120275 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6ba700e-37c2-42bb-8359-1e43d7e0f07d CLINVAR:120275 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce1b2e07-eb4c-4c3c-950a-e4b69a3cd3ca CLINVAR:102892 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07359eae-e293-4171-9599-3338ad5feb79 CLINVAR:102892 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb999035-a5d6-4957-934e-fdd33b6cddce CA16020877 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7e67177-cc90-48e9-8251-17288c04d95e CA16020877 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12422db9-2efe-41db-9346-d06bb3b9258d CLINVAR:125436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 655a872f-481f-4a35-abf5-aac7edd45d79 CLINVAR:125436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1810b316-90ef-4769-85d5-24ede0e16e8a CLINVAR:120278 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6703e855-38e4-4d4f-876a-920747a369d4 CLINVAR:120278 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c02493d1-c28e-4f24-8a34-ceb2addce63c CLINVAR:102832 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96a90be9-67cc-42ab-8f11-2ee66923f9be CLINVAR:102832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca896328-937d-4ff1-85d4-914b10c4e722 CA16020720 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee771158-4f57-4fcd-b792-8fe8a023938f CA16020720 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6984915-10c7-4525-a647-50eb5fe7e98c CLINVAR:102749 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53af6973-5824-43d5-8abe-46eec7d60540 CLINVAR:102749 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aac99ec-a0f1-48ca-a37f-d7b188d858c9 CLINVAR:102757 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80d6bb35-5108-4512-9f20-f33f5fe9842d CLINVAR:102757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c9af0eb-7671-415d-95e9-4e86f17521c0 CA16020722 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aaa2001e-2c63-4145-b117-864348f5f430 CA16020722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cff3823-ed4b-4ee8-83f5-624e61cddd85 CA16020714 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76c7444f-d344-494d-8c96-c10d4f94894d CA16020714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90aa8efc-ba65-4340-aeed-a2cd71011ee0 CA16020715 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da7bb17a-771c-446d-9ef8-4b60e3882687 CA16020715 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5da35fe6-d1df-4dcb-aa0f-92cf8aad171d CA16020716 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d72bf718-212b-4132-aa09-af1d12da64a3 CA16020716 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9048442-93eb-4d40-aba1-7babbda618f8 CLINVAR:21385 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d877ef9-64c9-4d82-915b-982fd5edadbc CLINVAR:21385 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a015b640-d52e-4c49-89ad-76d85ad3620b CLINVAR:444219 biolink:causes MONDO:0020678 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b992af5-2420-4b44-a271-93dadc8576ae CLINVAR:444219 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20c2710c-f51e-4d2f-b5e7-70b62372a022 CLINVAR:2356 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b839673-9c86-44e9-9bb5-6d4b4c9dee8d CLINVAR:2356 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c93a26a3-4724-46af-aa58-80ac5d0ca9d7 CA891862634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c257917c-1843-4cce-ba62-eea3019b7f20 CA891862634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b9d39e4-8f19-4386-989e-156da73fdb12 CLINVAR:102597 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83e63b54-0fb3-48af-b431-621dc249144e CLINVAR:102597 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af847326-16b4-4a6f-a293-884347d2b60a CLINVAR:120310 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3550a184-fc16-450f-82bf-50a263abba40 CLINVAR:120310 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27ef0528-2aff-4156-b327-6dc6651bb609 CLINVAR:611 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5a8ca7e1-0fa8-4f46-8e54-73d4a79a9c35 CLINVAR:611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a722b56-177a-4aa6-bf24-68c431286251 CA16021002 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 826464f6-188e-47b0-a0cf-14d88d3ba54d CA16021002 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6af3c82f-4130-4755-b945-d232a06a8c71 CLINVAR:102531 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 820480f7-f0e7-4954-be0e-2bf3387cf41a CLINVAR:102531 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 140f40f6-8012-4a1c-963b-e24484a2ee5b CA16020735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3adf26f-ba30-4054-983b-5e7a7b72483d CA16020735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092cd0b8-6376-4b55-8232-68db9d203f61 CA913184971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f43dec81-48d9-4123-9ba5-481d228861bd CA913184971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43a33c07-e671-466e-bd68-0dcfa131aa53 CA16020737 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14dbaa71-e6e6-4267-99cb-e70b186540ae CA16020737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b15eda3-c50e-4475-843b-49485389e385 CA16020872 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b76d73ea-3dfe-4f44-b2d2-e9d67a98ae41 CA16020872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5008251-10fa-42b1-adc7-e5c525e02b6f CA16020746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd1428d4-3daa-4067-aa01-c94893492ea6 CA16020746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2e951f5-b37d-4d6c-b762-abd0975d3efa CA913184978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c56f605-cafc-4a50-8bd4-66c86972fb26 CA913184978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dae13d7a-20f7-45e8-900e-e2426f401dde CA16020742 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9715c5f3-c141-402f-b32f-5e1696f165ee CA16020742 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef2e8462-e468-471e-a855-ff37269feba9 CA16020759 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1139195a-f7e5-4fda-a103-26bff2ddb103 CA16020759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57dace7e-ee27-4bb8-af92-372961c1b3fc CA16020888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5a01032-7d95-4687-ad95-02ae602a3c64 CA16020888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e330c0b7-459c-4d2d-9606-25f016b74ad6 CLINVAR:102888 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f7cace9-74e8-42ac-8e12-f62abea2ca55 CLINVAR:102888 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5630182-e589-47b5-a9cc-67471fa900cd CA16020730 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83f4034f-5691-442c-afdc-ab7a2137e540 CA16020730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a87b34b8-2a66-419b-b293-692fadffd63d CA16020721 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05e23572-be08-4391-b7c5-eb70b5db2ab8 CA16020721 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170455c7-12f2-4cf4-ae62-622f6a73f6d4 CLINVAR:102607 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69df93e4-c253-4778-8631-7eef124f9a23 CLINVAR:102607 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c26966d2-a3fb-4823-85b9-9c2463b04a78 CLINVAR:102613 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 137b2d3b-19dd-4ea6-abf7-5c783e4d73c2 CLINVAR:102613 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91483364-c9a9-4719-930d-f0a769ab64da CLINVAR:555212 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 466a8241-1c84-4d03-b49c-db3482fb9c73 CLINVAR:555212 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b2b2d30-1447-4815-8c47-c67215dd5202 CLINVAR:2355 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 84aaccab-acc0-4627-b6b2-70455fac8d01 CLINVAR:2355 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c4bef6a-bd7f-4828-96f3-ba036fde3454 CLINVAR:140803 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a8a0e3c-76ca-4200-bd3f-fdac42f4ec07 CLINVAR:140803 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c40499f2-b98a-4151-92bd-7ca975f8e1d0 CLINVAR:545785 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de915aa3-0eb7-4e93-9753-8b3f5960cf4a CLINVAR:545785 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb540deb-61aa-4aab-856a-f4758b6cd42d CLINVAR:582514 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f991fb56-d76e-416d-a2df-39ec936ff468 CLINVAR:582514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34062b58-ef6d-4119-b51c-0ffdbf03c0f7 CLINVAR:545738 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b80cf6e-3679-4aa0-b240-56edf8529d41 CLINVAR:545738 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec47bf7-5901-4ba7-a2ab-1ce46586449f CLINVAR:578952 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58ae7aa5-8609-4cb9-9fcc-096cfc074d99 CLINVAR:578952 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f956952-fd3e-4f00-8cb5-11b88aeb7b37 CLINVAR:463743 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc7762af-b144-4e56-95ab-fd4343779c30 CLINVAR:463743 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9322ebea-6521-4d44-9cdd-8a565f49dce5 CLINVAR:142888 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0018026c-d4cf-4ef8-8478-57241243b76c CLINVAR:142888 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c51888-656e-4743-bcf3-25c5da3c4718 CLINVAR:141206 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c4ee88f-47b2-4503-a1b3-2e1ea0132783 CLINVAR:141206 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdfccbc6-5af3-47d8-a57e-5429fab580e2 CLINVAR:406669 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58d19c25-2fca-4abb-98d3-7e60d17590a2 CLINVAR:406669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dc1dccb-2a7d-4343-8c36-a15a1323b5bd CLINVAR:483251 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58112349-a578-4d93-8e27-35156671f9bb CLINVAR:483251 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b728de2-6201-4592-946c-951f17965066 CLINVAR:406628 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0158942-5192-4d8c-8f26-f780650c0a1f CLINVAR:406628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faec5c10-8c6e-4565-b195-3397adc4e727 CLINVAR:406616 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07a5b665-2e75-4c5a-9e44-d9801f77de84 CLINVAR:406616 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb51fb1a-3d69-405b-93d4-c25eed42de02 CLINVAR:483227 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f3210cb-695d-4ee8-8220-2526209288ad CLINVAR:483227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc51ca22-f41d-4509-91f2-29c739b62d80 CLINVAR:422315 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76dc9724-1882-4660-8fd1-e051ea67cc41 CLINVAR:463742 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f327ff5c-6715-42df-80b0-ddf7109a357e CLINVAR:463742 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f90a6f2c-ca9a-48a0-abec-224c8b0b00f8 CLINVAR:239891 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 058f0b7b-18d5-4536-a90b-656b5f8336e2 CLINVAR:239891 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f35a2ab-fe73-4c69-9fe4-946251cb945c CLINVAR:231923 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7639982-b801-4e7b-ae58-1860dceff0ac CLINVAR:567608 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4d44b6e-5f29-4ac0-bc88-6378b3d0e74d CLINVAR:567608 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f2f6652-4caa-47a2-bd26-7fb6cb4be4f1 CLINVAR:187239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8466b30-c001-41ec-9bbd-b36473139476 CLINVAR:187239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92d6f123-d3db-4c45-b745-391c9226a3f8 CLINVAR:233979 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f0ccd2c-6058-48d0-895c-a5f48a28bb9d CLINVAR:233979 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2fa3b7c-7699-4c75-8833-3fa7d60d9e9f CLINVAR:230451 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae4380b0-73a9-4142-a67e-b56822b4d1ca CLINVAR:230451 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 558a3b33-8280-42a2-9167-a0602a7791c8 CLINVAR:156374 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77edd931-c21c-4814-9bdb-6da99729dec6 CLINVAR:156374 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84a1f640-3739-4313-9cc0-bd127a1bf09e CLINVAR:234595 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7960631-ddda-4de3-a393-877a4e756149 CLINVAR:234595 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6722eb1c-157a-4a29-91c4-ed614e563425 CLINVAR:234594 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc1b966d-878a-47c4-97f3-fd8acfd09b40 CLINVAR:234594 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 489cdefd-ba62-4c13-8c65-268f29ab89ba CLINVAR:183750 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 279088fe-a314-40e6-94a6-0b50e32ae710 CLINVAR:183750 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8cc174c-f47d-4712-91cc-a675d18e5ea1 CLINVAR:12240 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 229105b6-d3e0-4139-b913-abf3b842be5c CLINVAR:12240 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 187873e6-6c43-4b12-ba1a-c16110fc25cd CLINVAR:406646 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 443a7db3-e241-4ce6-be7d-ea05396c53f2 CLINVAR:406646 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d8ca037-befc-4df0-bf43-fb5ad6186653 CLINVAR:491538 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a618f167-6b29-4b50-a88d-5ae5670b1f64 CLINVAR:491538 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20d1276b-2a37-4ef0-9482-bfcb8fa0d585 CLINVAR:406644 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fcf08f8f-108d-48e0-b018-3914aa8eb795 CLINVAR:406644 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa1d11c-cf55-4196-9bc4-87a3ef940a09 CLINVAR:12234 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4d76059-8465-4b28-aa38-6898c4594ea9 CLINVAR:12234 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09365182-d06e-4078-a477-50fd389d227b CLINVAR:567085 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3e4be31-dec1-490e-adf3-e5117c83a7e6 CLINVAR:567085 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b1bd01-df10-4c28-8553-e862c1a61055 CLINVAR:182393 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d87e03c-9dd6-4a87-a266-b0b9fcc316e1 CLINVAR:182393 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6088988-52d5-4bb3-babd-622860f286ed CLINVAR:230948 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6e6b479-3956-4161-9388-2173c2293e34 CLINVAR:230948 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 112a622b-ab23-4d5c-987e-e34173e41cfb CLINVAR:419385 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6784ebb-7d83-4518-9da7-5dee91b9f495 CLINVAR:419385 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6709e9b7-64a2-4376-8dff-72deb1a3855f CLINVAR:141661 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29517147-789c-45e9-9228-427bd3afabb6 CLINVAR:141661 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df472e4e-1fd5-4737-a80e-7da550a7e0d3 CLINVAR:496819 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f52a038-152b-462c-96a4-5a744ca60011 CLINVAR:496819 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 590ceb04-d392-49b7-a4a7-0e09fbd9eccd CLINVAR:428618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dfab2c47-4baa-439f-8382-ae9f7750712f CLINVAR:428618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b24ed22-0a63-4f5f-8fa9-49c8907ff221 CLINVAR:492677 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26557540-00b2-4938-bd18-658374f78daf CLINVAR:492677 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d9df34d-ff69-476a-ae02-b2d0788c03f9 CLINVAR:12236 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 28bcc471-f135-40bd-b1e5-48fbf9aad73f CLINVAR:12236 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e1ca005-17aa-4f03-bc90-fdcf5f49e42b CLINVAR:185408 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7895c73b-63d9-4ba7-b9aa-889572527144 CLINVAR:185408 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac940d0-cc4e-47b2-a627-80228b941f91 CLINVAR:230956 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 470901df-74b5-49a1-b526-24a843f3f0ae CLINVAR:230956 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22b0d4ce-7049-4c95-9a77-41003dc8e3c3 CLINVAR:12239 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f2cfd50-1bba-4a19-9a81-b520baa1e6f2 CLINVAR:12239 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fce0d4f-daf9-445a-8912-7098e48c2565 CLINVAR:548782 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9cc3f232-de30-4aaa-9c8e-815c6119a55f CLINVAR:548782 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86a1bd92-b29e-417d-b076-852696dc383d CLINVAR:179479 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 188558ed-da05-4eb6-877e-effdc2432173 CLINVAR:179479 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 473566bc-aa4d-42bc-9950-34363caf3fc8 CLINVAR:141951 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c25d0ad4-7a31-47a1-b3f1-b722739e5ff1 CLINVAR:141951 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b99159fa-539d-42da-b962-692ca20faf76 CLINVAR:239909 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9791981d-0e01-4aa6-a4d6-2506265e4563 CLINVAR:239909 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36498fd1-75a1-4446-936a-55182fec118c CLINVAR:428628 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 065279df-5e97-4749-b8e1-394f9c4c9ad3 CLINVAR:428628 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a893d417-ec6e-458b-803c-c45d349515a7 CLINVAR:279747 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff6a8d41-8925-45ff-9419-732db3b5fa4c CLINVAR:279747 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b649af53-95b0-4c59-a588-62e33bba9237 CLINVAR:186618 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9383c06f-ea13-40e6-a299-080b2576c158 CLINVAR:186618 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55a6772c-204a-4efc-8b5d-5a86378ee684 CLINVAR:43528 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98adc72e-9247-47a2-ac3f-f56391e727fa CLINVAR:43528 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21fe26d7-259d-451f-8367-286e3f091eb7 CLINVAR:43527 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f6f2ab4-af9a-46ae-9c0f-1f6a02840669 CLINVAR:43527 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceea61e9-d0c7-48bd-927f-2994670263bf CLINVAR:255733 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b4667ac-38c0-41df-83f4-35d9b6e7bebe CLINVAR:255733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9506350-1291-4bb5-941b-81443619baa0 CLINVAR:616 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad15006a-7a54-4a53-998c-0df89203b085 CLINVAR:616 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01eb1312-f0e3-45f4-8e40-5596bbe25e44 CLINVAR:430401 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23db3f12-afe9-4dd4-bc78-52d0693b9fe9 CLINVAR:430401 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd759890-2a38-4222-80a6-c8b74807788f CLINVAR:194161 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2388de2c-531f-46db-8750-5c7e98aa0dda CLINVAR:194161 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bd68a48-de97-492d-b4ef-75c0745e4cd3 CLINVAR:102565 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5374a77c-234a-4e26-a0b9-8f49424040b6 CLINVAR:102565 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25160fee-7947-4e36-a455-c3ec03cf2e0a CLINVAR:439227 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 831fd275-7863-4488-ba40-552c9e1fee03 CLINVAR:439227 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49d0d1d-b923-4ee1-85b8-690943742055 CLINVAR:102674 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c240fe78-5dcc-4eb1-a89a-b76849075bc5 CLINVAR:102674 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd823452-315e-4318-8a35-b11544b0c663 CLINVAR:102633 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25f5b546-0f9c-487b-be4c-50a33cabc776 CLINVAR:102633 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36ac9767-2916-4b0b-83f7-48d2f9dc77ae CLINVAR:120292 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9bc1c42d-286a-4007-851a-2aa757b2da9f CLINVAR:120292 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3a87e51-0f5f-4464-9176-9e766c7c7ce6 CLINVAR:120296 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18e4d6be-16e3-405e-99ad-e2479095699e CLINVAR:120296 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eebd531b-8a03-4db8-a3f7-d812ede991f1 CLINVAR:120268 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3f3344d-3184-4c96-8c8d-948f3bab8bee CLINVAR:120268 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb4a84ba-7e4b-4bc3-8e69-83b83624549a CLINVAR:102608 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4e67daf-6922-4dd6-9a2a-da12833e8f2a CLINVAR:102608 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af3626fc-fc8d-43e9-9990-b3f69798d873 CLINVAR:40842 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98e2d25a-1278-44c3-a3bd-759781958624 CLINVAR:40842 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebf3b2d3-18f2-46fa-978f-b9f2f3e40b09 CLINVAR:181510 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50cfd3b3-f88f-4069-a308-2bf85d86e3ef CLINVAR:181510 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b75a8e4e-34cb-48c3-91d1-6260181fcb81 CLINVAR:180859 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fea2eb7-be4d-40f6-9bbd-d303eeb0742e CLINVAR:180859 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a0dc635-af7e-4637-b82a-3b91a20eee56 CA346367589 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89fc50ca-502c-4179-a25f-04cc195cdb43 CA346367589 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc172690-03f8-4720-885d-4d116ec132cc CLINVAR:438172 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a0fcab4-234e-4e2e-b7f2-c1758a28e0cb CLINVAR:438172 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aa47bdd-a1c3-4f3b-b4a0-5abf3bc375b7 CLINVAR:45366 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ddc1ada-340f-4114-8ef0-0637c481e8f6 CLINVAR:45366 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b001561-8d36-40ac-83ab-ab0d126f5679 CLINVAR:4928 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b57eacb5-b848-4e9c-afb8-06f08f70b2e1 CLINVAR:4928 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c7cc435-556a-45c7-86ad-2866a0fdaccc CLINVAR:590799 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1658524b-efdf-4c1d-b7b6-785693dbae8f CLINVAR:590799 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5789ceb5-4058-4c02-be4f-6bae37899f4f CA16020920 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78960b98-6bd0-4a24-81fb-6665db1d5a78 CA16020920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42142d8e-8511-4887-9e2e-d58f410f3bd8 CA6748732 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d501d60f-6e16-40c2-9c29-e0f2fa5d0b13 CA6748732 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6691e77-6bc9-4535-9da2-8abddee25cef CLINVAR:4926 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e156e11f-5611-4736-9c47-d4e30acf04bd CLINVAR:4926 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1813214-fef3-4eb9-a998-020a7410fbca CLINVAR:48503 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b33876c-5650-4b06-a11e-4923d9c72b2c CLINVAR:48503 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22de04bc-8cb6-4fd4-8605-9e402526efc1 CA16020771 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d07189a-ca5a-496d-b0a4-0cc184f7e233 CA16020771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b59628d6-ceee-4ea1-975a-f8ddbfea3c4f CA16020929 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f309a6e9-eb77-4419-b989-6b184c71e203 CA16020929 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fea7bd8-e660-4fbb-8709-6017c2debe4a CA16020930 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8737b4b0-40e6-40d5-bbf2-6fd5bec094ad CA16020930 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4259c839-1d0d-42d3-84b8-928bea6559e0 CLINVAR:604 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb8fa4fc-73fc-4de8-a43c-d9714f375d74 CLINVAR:604 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e01583de-0c6e-4b29-9c6d-b6fe08e6319d CLINVAR:102672 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1563e8e8-f868-4760-ab91-fa81db803491 CLINVAR:102672 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42833a56-9aae-4d48-8ceb-863c9caf4068 CLINVAR:438177 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d6ad5d0-4b62-40cc-a448-56699cd5cf8d CLINVAR:438177 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0beb855f-1177-4ac0-8727-b35ad853aa9f CLINVAR:430229 biolink:genetically_associated_with MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5a76b54-36de-46ca-9d0e-fa27dbba0dd0 CLINVAR:430229 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dad3a627-6e24-4ea8-93ef-5a417db5d195 CLINVAR:179773 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e118ff69-3b10-4017-898c-d88036a5092c CLINVAR:179773 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20cb3faf-55b4-4c26-b185-d13031a930f4 CLINVAR:48395 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e18c623-0faf-4b4b-8ddc-9ac55efaa80c CLINVAR:48395 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b85874c-8b8a-456b-980b-190e12441c26 CLINVAR:226441 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61759938-372a-47ed-bd4e-657c1a45af28 CLINVAR:226441 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48a3ce7b-c1a4-41fb-bc3e-379685dd58eb CLINVAR:43521 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 893071b9-e7e4-406d-90b8-2fb6e7726bf1 CLINVAR:43521 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 976d9884-1b95-4f69-adce-2b7d49dcfeb5 CLINVAR:43186 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b4a7bf0c-5cb6-42ca-ace8-1ddd729b4996 CLINVAR:43186 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2cd61f6-281b-4bd5-a8fd-1af7f5bbdaa7 CLINVAR:48544 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 511e3d79-03e7-4fd2-8893-670e81e52e93 CLINVAR:48544 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0864f006-f74a-4832-b396-b16dfaf96916 CLINVAR:48417 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9dfbe09b-a6b5-4162-ad95-684f7d1e1500 CLINVAR:48417 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a737492-a0f0-4ee5-be3c-48555e009490 CLINVAR:429984 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 557baf4a-da89-4e10-b666-990a3240ec29 CLINVAR:429984 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87a3e6af-f53a-4034-b219-23b702a7e9d4 CLINVAR:290125 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78e671c8-4e2e-4ebf-8cbf-d990ac6f8664 CLINVAR:290125 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb5a0a56-6d9c-48a8-8e80-1d3a06705ef6 CA16020924 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen baf13fc2-0d50-4567-976a-c05c86711d83 CA16020924 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ad9516f-a17f-4042-a8c6-42dd17e91fc8 CA16020966 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c954bd4-19dd-4b55-9404-d3c9e58e7762 CA16020966 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b86d4dc-4f5d-4747-aa6e-72624089bc1f CLINVAR:102589 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 064c860f-a366-43fc-9cb4-01f5407c4d15 CLINVAR:102589 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30cc2d4-4c2d-4934-971b-5f3194bbbd9e CA16020931 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3805d97d-ade9-4f3a-a63a-0322b98b713b CA16020931 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a4ca915-49b6-4067-b286-1e25f876cdf7 CLINVAR:102590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3252c095-6482-4c11-9cec-dbc6674d533c CLINVAR:102590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc313770-fa33-4613-8647-e366dc49b206 CLINVAR:585208 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa4a2c9e-cd1a-4979-a690-c5897aa8f75f CLINVAR:585208 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9541d872-590c-43ef-8bb5-c988561875ca CLINVAR:120293 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edac54c4-31ac-44ab-adcc-f5f0dd8f62f9 CLINVAR:120293 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e19bce48-1175-4275-9a84-8d72501062b6 CLINVAR:120295 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8165ab78-0fbb-46c0-a935-7203ffc0e76c CLINVAR:120295 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1e1573b-8cf9-4e10-b096-ae8d9664ea74 CLINVAR:120294 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d79e8e2-85b8-419c-adbd-6d60ff6faec3 CLINVAR:120294 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b42eec48-5c3e-4478-8183-974db367f93f CLINVAR:549954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dee4349a-3ea8-4693-a091-2f9c5401abe0 CLINVAR:549954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e5d0d24-e034-4511-ade6-f4de6e7b7b74 CA16020754 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a3b1285-7dc7-4cf5-9059-e17345b0090b CA16020754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 217559df-0f86-4b64-9ab6-f6b5c0177f18 CA16020755 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41cd6d80-ea52-4164-8c52-a821481e9f71 CA16020755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b28ced96-7107-4fab-9a2c-b491b213b54a CLINVAR:872832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2b37082-8265-456a-b82f-e803cca7a616 CLINVAR:872832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70065db2-f087-4a96-aca0-9e40fd2f51a3 CA16020782 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48428d94-a6f8-4998-b5f0-d0091d6ac675 CA16020782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cce80303-319a-49d5-b69f-808583ea366a CLINVAR:872834 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 24c9da28-6a1b-4af6-bf19-2e3a55d4fe4f CLINVAR:872834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4aa97f50-7933-4ed5-8bd8-62a26be9dc70 CLINVAR:164724 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dcdfbe52-78ea-4c1f-a289-51a84a8620df CLINVAR:164724 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b10df019-4405-40cb-ba82-a6191315aba9 CLINVAR:178667 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e8f0e85-0dfd-4b3c-a116-3ff089617a3b CLINVAR:178667 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa354c3f-aaa3-4a77-a3bc-986990def100 CLINVAR:43335 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a7551d2-d85f-4290-861c-63abe9ea6592 CLINVAR:43335 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e66ca802-f500-44e2-9154-ddc66daa81e0 CLINVAR:43541 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b628cc0a-cdc1-4acc-a0ef-7dbaabdf43e5 CLINVAR:43541 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91906525-3978-4589-9534-1c9ac90b61b2 CLINVAR:208366 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfceea1e-456d-4947-9d8c-f665f952bcd8 CLINVAR:208366 biolink:is_sequence_variant_of HGNC:6298 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96304a86-a77e-4a48-9c9c-a0091ee72191 CLINVAR:43292 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb124eb9-ae92-4693-99c5-8bdd42831927 CLINVAR:43292 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d78c310c-136e-41ab-ab31-bd85156ad644 CLINVAR:422345 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f1b86cf-4c6a-4e98-84a8-69000914e283 CLINVAR:422345 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b8748e-d662-4285-95b7-429ff429321b CLINVAR:228484 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca95a49d-9444-45ba-a739-4ffd5017330c CLINVAR:228484 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90e86bdb-65c9-4983-b01a-f3dec51621bf CLINVAR:228500 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2fe3d594-cc22-423e-aaa0-591853ff1c82 CLINVAR:228500 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f432c76-0efc-4dea-bced-f9b38dabdb74 CLINVAR:181547 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d28b3ced-dc8a-4856-b001-232362a67c2d CLINVAR:181547 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d5febfc-4f39-4969-a2db-ca13f5a02ec7 CA378386067 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33cf61a9-fc12-4597-a025-8c40b99c6411 CA378386067 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5ae9f8b-70e5-4e1d-b846-695034e708d1 CLINVAR:428277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88d2424c-b4b9-4db8-a755-bfc73cd73d2c CLINVAR:428277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51712219-989e-4fb7-b7e3-b39365384605 CLINVAR:142878 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1b5154f-27b3-410c-9ade-23caafa3e6e7 CLINVAR:142878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78fb0ccf-5c9b-4d83-ba03-85b2602d440b CLINVAR:40498 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9e32772-bde2-445a-9181-e77541143b5d CLINVAR:40498 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d86390fd-23be-4b40-9381-cc74ab71f5f7 CLINVAR:279960 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c691bbe2-0ecb-4fa6-8e57-ea01132f347c CLINVAR:279960 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9564bb2-1aa4-4610-952a-d723f552a539 CLINVAR:13341 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 474faebb-2fbd-4aed-86da-c84d2dfd2ef9 CLINVAR:13341 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba873080-f046-442d-a97e-3ab93c6b0a42 CLINVAR:484600 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5da8c50e-3133-470a-b201-f06f2c704fb8 CLINVAR:484600 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dc4d028-074b-49c8-9113-181455b997f8 CLINVAR:142018 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6dcca4a-f631-41f1-b436-b6971f495138 CLINVAR:142018 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5674659-72ac-4387-8b86-623ed56cc9d5 CLINVAR:234144 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c180090-6836-4db5-801e-08fbdc9d74f6 CLINVAR:234144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37442a65-b83e-4b62-bf9d-7cc993b9578b CLINVAR:404168 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d18b7d2-b87d-4566-bb21-365bd0fd4449 CLINVAR:404168 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21028723-50aa-4f1d-b2a3-e55acaca6b9c CLINVAR:102573 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acc3cf94-14bb-4349-869a-19b561d40cce CLINVAR:102573 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de00742a-254e-4ddd-bff6-dbd912d2df04 CLINVAR:629 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 756293e7-e3c4-4a0b-bd8b-2490d98c4af0 CLINVAR:629 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6e278e6-6446-45af-8fa4-14d18e7553c0 CLINVAR:102680 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27c9e51e-fdc0-4c4f-a10f-d03d97ca3088 CLINVAR:102680 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03303615-2a0a-4fad-af90-b54fd0dec1c1 CLINVAR:102685 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af50854e-0180-4b3c-b144-a6ebba777793 CLINVAR:102685 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2907da39-74f8-4c61-8b46-306ae4d2013a CA16020948 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08f1b074-9071-466f-9d02-19b1a56f4634 CA16020948 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d92f691-ceea-46d7-9587-969cc351757d CLINVAR:102915 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3fc4fdd7-2f34-4cc1-b5ab-1075dbc40e27 CLINVAR:102915 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80f606d5-3e61-4a17-b509-235ade001629 CLINVAR:872836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f405ed4-01ac-4014-9eca-ebe2b648b259 CLINVAR:872836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80a9e00b-1f04-4dbb-b050-b097368947d7 CLINVAR:427599 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 893d7276-efb8-47c9-b972-633cba5a0903 CLINVAR:427599 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 234fbbba-bdaf-4989-94ef-3427438eb52a CLINVAR:428256 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46f23a1d-8e94-45b0-95c1-af9cdd735a59 CLINVAR:428256 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5c10e78-3220-406d-858e-9da9adc2c8c1 CLINVAR:127688 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2455026c-198d-4feb-aa63-ab0f84a45267 CLINVAR:127688 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5997d496-2212-40d6-b71a-adb23310685d CLINVAR:189415 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c8ecfd6-a284-4de9-a753-dfca601bcfab CLINVAR:189415 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eabe87e-a6a1-4bda-b5cf-fb73adebb358 CLINVAR:404160 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8de22402-f7cb-495e-990a-17764880d9ee CLINVAR:404160 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf8bfac-e4ed-49d7-a378-1c491332c8e1 CLINVAR:418653 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 56a5957a-9929-422b-89ee-0d2398957fea CLINVAR:418653 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f5de00-adf1-43b6-b4ce-8ef1cbbf08ea CLINVAR:421055 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8b77230-3313-498b-849b-274391bad4fb CLINVAR:421055 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc308be0-2b29-4edd-a2a1-20ee8844edf0 CA410202469 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3dff0575-5707-4266-b5ba-15c59feb3e7d CA410202469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8224f34-722b-4ac5-9e74-b4c3493aad83 CA645614124 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f585906-3771-4b40-b24f-c4599ce158b4 CA645614124 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d51e55d-38ce-45b9-97ee-9f84aab0b0ec CLINVAR:561253 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8d1e4a1-707c-4374-bcc1-ad8ccb7962a6 CLINVAR:561253 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4021a41-3faa-4e1c-bf8c-46984a96d199 CLINVAR:627342 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f942105-e2ba-4ea9-9294-1cb56c3c8566 CLINVAR:627342 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e41edcb-b3e6-40fe-be1d-02a715c965d3 CLINVAR:869209 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd81c773-6944-4d1c-aa58-b3a69e2f734d CLINVAR:869209 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7f9878b-27b1-4532-9f94-6ecfe31ccb43 CLINVAR:869210 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f00723c0-d957-4d24-9f62-b5d0d51a205a CLINVAR:869210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71679bcd-994b-429f-85c5-14128f57cf55 CLINVAR:618862 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba63fc0c-f1eb-4868-a6e3-8cb029a6ea66 CLINVAR:618862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15b2de5e-4a40-4e2d-bd08-ad1637796194 CLINVAR:532683 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da6da032-409c-45f9-905b-818baec479ee CLINVAR:532683 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c7c58aa-e920-4dc1-a825-d586f179a240 CLINVAR:464005 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05dacb86-5511-4fc9-bc7e-dbab1ac2ee46 CLINVAR:464005 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e31e3a28-2a6a-4951-980b-41f6ba342c78 CLINVAR:415836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21f93fa7-6e4e-4591-ad37-66912b4b60af CLINVAR:415836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 618f0b75-cfbd-4a4e-935a-9f7c3505f6fa CLINVAR:234282 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen caa8aa4e-d79f-453c-b1d4-ec924bcfb624 CLINVAR:234282 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fc98317-8d37-423e-9ee8-42d9f27064d2 CLINVAR:422227 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae6f7a2f-7dca-4a41-8cf1-766e8f981398 CLINVAR:422227 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa3bd268-b14b-4198-9426-6fd5105843e5 CLINVAR:420004 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23b66806-8037-4eff-b29f-6a8e5837b6f6 CLINVAR:420004 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b00c555a-502c-4179-af4d-9bceea57c30b CLINVAR:463795 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21838aef-6a0d-4a01-b6ac-72e7c34b44e8 CLINVAR:463795 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38475398-37ee-48dc-a744-5a7b703c89e1 CLINVAR:437928 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87ec1d14-9bc3-4e3a-97be-1b8f8be1a8a9 CLINVAR:437928 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34f6d431-e9a5-48b3-b838-35105e738342 CLINVAR:229907 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6761766e-e2e3-41e1-adf3-4384afaa8bb5 CLINVAR:229907 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 999d7cbd-fd27-4952-b357-85750ea609eb CLINVAR:231528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72a70a7f-a2ac-4c02-bc74-c69bc8d8ceb3 CLINVAR:231528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cd80223-28b0-4ee3-9764-2dce6201ec60 CLINVAR:224528 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ea38ce6-2950-4f47-8e62-5e301f2418e6 CLINVAR:224528 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b61a5946-fb4f-4679-8a0c-7b395b541fb9 CLINVAR:428620 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7950dc24-3b44-4261-a9db-d4092b8d58aa CLINVAR:428620 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a881b215-fed3-4ef5-b343-9d89f35bd769 CLINVAR:220776 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02d99caa-2974-46a0-8baa-2574441294fa CLINVAR:220776 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d157bc58-b181-485b-85c5-fb97779386c4 CLINVAR:428626 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a6be086-369b-4f3c-bf37-784e5e70b17d CLINVAR:428626 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21908589-2a4e-44a5-a069-85d1f9cedb22 CLINVAR:463772 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 037a55a1-ae32-414a-9da7-a9d3a19b38f5 CLINVAR:463772 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 168b9449-e7e0-498b-9674-ce055aa74ba3 CLINVAR:406624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8840d929-870e-440a-8a61-e83942a11f90 CLINVAR:406624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 237cedb6-213e-4e32-b063-dc4ec8a4390a CLINVAR:463790 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bcd44195-aa7e-43ff-9776-3fc23558be5b CLINVAR:463790 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d39ce0e-fed2-4857-9394-49247d6b12ec CLINVAR:569046 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57e52fb9-b103-4109-acc5-c703d1e4d175 CLINVAR:569046 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22a8f3dc-c88f-4ae2-8d29-44c66c411ce5 CLINVAR:239903 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93bfc285-b691-418f-b48d-b1b6e889540d CLINVAR:239903 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03d06973-478e-4053-b594-0f717d927009 CLINVAR:463781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e914f0d9-2a10-44fb-bfb8-bc4fafd2d6af CLINVAR:463781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a1ae911-61d1-45c0-90dd-ec43237bb45c CLINVAR:418533 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b130a8ed-29b4-43f7-85ea-d9deeeb4ac64 CLINVAR:418533 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09b9d983-bba7-43ed-b833-c8880114ba2f CLINVAR:281818 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1752d20-5576-4642-afd3-670ec6067df9 CLINVAR:281818 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c92ffb78-d9c9-47aa-ac27-af9fbc795911 CLINVAR:133312 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 730bf2b9-090e-426d-ace3-632de5dbca8d CLINVAR:133312 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1819ddc-8c38-4f08-a451-30c62c366020 CLINVAR:196222 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f06fa1fd-e6c9-4d4e-aa64-ab71ac4b6c77 CLINVAR:196222 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5f5e4c0-e6ff-4088-949e-1ee9b33f7b70 CLINVAR:325774 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32fc4fe3-6464-412b-a188-b76df7626502 CLINVAR:325774 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64121884-c69d-4e52-9f3e-1d812348d3f7 CLINVAR:557429 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f856e152-8b59-42ae-b53d-237aed443423 CLINVAR:557429 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca58e3fa-a709-46fe-85ea-31059996903d CLINVAR:230112 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7e2aacd-2bb3-43ea-9c3a-914bae4243ea CLINVAR:230112 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf83e95-8704-4209-a4fc-da3531477646 CLINVAR:406578 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0b2b44d-98df-427f-836d-de8d6c64adfb CLINVAR:406578 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc9fd7c3-4829-4236-9d6f-e2c26455f152 CLINVAR:127819 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18e9c43f-fae6-429a-94df-8d0e094c47ca CLINVAR:127819 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad85373c-d737-427e-adb8-a245e687c4af CLINVAR:142766 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55f27f6a-d15a-4111-b589-5fabce0781b2 CLINVAR:142766 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff174f36-7b23-41bc-8167-dcc3998b828d CLINVAR:245711 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 50dc0ee4-a5ef-4d1f-a96b-90f03037300d CLINVAR:245711 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63cf02b2-6e53-4bf9-a294-2d9fe5cea54a CLINVAR:233951 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8571b2e7-bf62-4299-b2e1-e1eb44d5d742 CLINVAR:233951 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfca116d-15e7-4ec5-9438-de647a4eaed9 CLINVAR:127814 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e542e3a6-49d1-47f9-bacf-810cd896d78b CLINVAR:127814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df06c5d5-737c-4221-8a1c-7c307929357d CLINVAR:376615 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b5dd121-2a06-4561-aa1b-1e3d5cb47d57 CLINVAR:376615 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 437c9c44-a4d6-4083-9f4b-4b288f4cec99 CLINVAR:12375 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aabbdcdc-7133-4167-87c5-38eb46d7ceef CLINVAR:12375 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72af2b18-f7e9-44f3-8d05-13c33efa98c7 CLINVAR:93323 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 208675a4-1efd-4c02-abd9-c949b9d4d742 CLINVAR:93323 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a41f4ce8-7b17-4853-a421-07edb5a51127 CLINVAR:12347 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e10c272-6088-4099-bef1-dea3bdb87e6c CLINVAR:12347 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca2e33e-eca0-4df4-80ee-c02a68ff80f4 CLINVAR:43587 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44312822-38b1-48a6-821e-9972f96ba1c4 CLINVAR:43587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f58adb8-b022-4370-a936-ec6fe60ac273 CLINVAR:230253 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ddb55a1a-4754-4c4b-b8b9-186910e20553 CLINVAR:230253 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd98b035-6b4d-4f6a-8886-ace5f02ddc44 CLINVAR:482223 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86f9d846-5044-430b-a596-f6e805aee6cc CLINVAR:482223 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a84f5a3b-634b-4746-b564-397fc3b51d42 CLINVAR:376563 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 257cb7d0-04d3-4b9b-9150-18f4e861fbd5 CLINVAR:376563 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb4a256a-884d-4292-b69f-4a3558e80dc4 CLINVAR:428898 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e60ef76-a332-4277-b3f5-cbf488002271 CLINVAR:428898 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f0aa2c8-3fd1-40ee-aa5e-2f850d781e61 CLINVAR:458537 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 850e124c-2fe9-4a68-aa12-32303a133d5f CLINVAR:458537 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8839fe9-70a9-4b24-872f-1fef80d932ef CLINVAR:804214 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5108369f-ae86-4449-8a9a-f10cee7cafd3 CLINVAR:804214 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a19611d-e504-4ce1-9e94-dfb8555f000b CLINVAR:12366 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26ed5fc8-6c64-4ffa-8ea1-910328ba14cf CLINVAR:12366 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ec2b849-340a-4249-8797-c5d8b84fc8f1 CLINVAR:12356 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2af5a01b-c544-4280-b477-a946a2e534bd CLINVAR:12356 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a62fd4e-f695-4e2c-9872-4bea87b6fa60 CLINVAR:182969 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ced6e937-d636-4b33-b326-b8670dd11531 CLINVAR:182969 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18244801-c463-4879-aaf4-b1e76029d336 CLINVAR:376612 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 04cf730a-1088-42ae-b8fe-504c50e0c6a3 CLINVAR:376612 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5527c806-fa60-484b-a627-4c2544d134b8 CLINVAR:102752 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4e1138a-d335-456c-a6f2-8ca69c689f2c CLINVAR:102752 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea0deb51-79df-467d-889d-683d5ccf9375 CA16020725 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 302acdf5-6019-4880-a8d0-e2a01382bd7d CA16020725 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21751312-8d20-49d9-99f4-084107eb86b5 CA16020790 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 62412143-040e-4dae-b79e-026b652ed229 CA16020790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 430d689f-340a-4a63-ab5c-e1d7dcb74061 CLINVAR:619705 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9932cf27-7a4d-4cf5-a5d4-d6db0b3824fb CLINVAR:619705 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff577f6-8ff0-4fe3-8678-f28060825fbc CLINVAR:102684 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 780a0535-d509-4a0b-a0a0-bee18f834e38 CLINVAR:102684 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1effdf-fe26-4ceb-94a8-54124ebcb5b7 CLINVAR:102662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 862c357b-c1df-400e-8411-8e0f9b966321 CLINVAR:102662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70d8b5e5-8150-4f26-b5be-196d7f910d0d CLINVAR:102722 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 528fcd88-9efd-405e-a3f2-ea63da561585 CLINVAR:102722 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 088aef6c-0fe2-4234-8405-9106e9135f44 CLINVAR:286662 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d50d118d-4490-4545-b0ff-9bc545071216 CLINVAR:286662 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9563f575-9fe2-469b-82a8-2d6bc2ed2d53 CLINVAR:422049 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71de862c-80cc-4d07-b2f7-4a66537acc4a CLINVAR:422049 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3c0fcd6-03be-41f5-9531-36ee72334bec CLINVAR:102916 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b56c6b8c-0587-4fb8-a7b3-6c99d79788c5 CLINVAR:102916 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deb38bed-4180-4462-88e5-087e629a4f16 CA16020739 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 631f99b9-10eb-44d0-b68d-627588e7f5b1 CA16020739 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e904e78b-ef03-4eb8-a991-1a8e10c6ed02 CLINVAR:501777 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 130b6771-f01d-4a4d-a185-5c0d1a9daeec CLINVAR:501777 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 343c2cf3-7f12-42cb-8f80-117bf215089e CLINVAR:526521 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3aa68153-2a29-4bb5-8d2e-b137cfd52fb3 CLINVAR:526521 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b3aea1c-1ac7-4a39-ba65-cbbd9c99be3c CLINVAR:286458 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 674d4842-bc54-4dcf-b502-930ac411324e CLINVAR:286458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9718dcbb-86c7-4a8d-ab83-0521a38ee863 CLINVAR:283971 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15064238-46d9-4c7c-921e-2e4ccd212a7d CLINVAR:283971 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e822e514-7da7-4411-82f0-1dd98fa215fe CLINVAR:288505 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 52500eb9-3948-4652-b913-61e89e2bb4bc CLINVAR:188936 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75f0f8d5-1fce-402a-87e4-11740b53c1bc CLINVAR:188936 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc93c058-de10-4b98-99dc-f430b6542064 CLINVAR:188904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee9e0090-fc32-493b-854c-cff58f18fbb7 CLINVAR:188904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f84daee7-ea8e-4a70-9dff-a4d93a0dc1b5 CLINVAR:189025 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b9502891-c503-4860-99f6-3faaf394062f CLINVAR:189025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86a8e3ec-4c39-4b20-be02-14b47cc62831 CLINVAR:189009 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3849912f-4ea2-4645-974a-648d728ea293 CLINVAR:189009 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94576fa7-9b3a-4611-b5fa-c8842ca3ed90 CLINVAR:526535 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b41b0ab-2305-46d7-8d70-ca9f66d2035a CLINVAR:526535 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe0513be-6348-48e3-a7c1-3a8663088c0e CLINVAR:550713 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02bd40b9-f9cf-474a-bfe1-d702a8b78b5f CLINVAR:550713 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3434712c-eb54-4800-a83c-8706615e9665 CLINVAR:556985 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ad3bb0d-faba-440b-9297-0336fc98b9fa CLINVAR:556985 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 520eeebf-3490-4259-844e-05dec1894a6f CLINVAR:932898 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbd0f270-236a-40dc-9d69-58a46386e6e5 CLINVAR:932898 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b654ee2c-896c-4a58-a530-b17a863ac6c7 CLINVAR:932901 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c4fc8ea-0376-4abf-b624-2c3ea5e04d27 CLINVAR:932901 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be7dc02e-ad47-495e-861b-03ab7bc89155 CA401361056 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db2ef375-d4e5-4a17-858b-3943f7244511 CA401361056 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fc11eef-0caf-4216-8499-16596182673f CLINVAR:495665 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a02de819-2c05-4182-b453-51613195028c CLINVAR:495665 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51d4feeb-164e-4e4d-b3b0-66cbc51a0f04 CA658795235 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2d65066-dc08-4683-89b5-52e03b89f3f9 CA658795235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 021e8415-016f-490b-9092-f80e637ea793 CLINVAR:370357 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b5755d6-4b61-48a7-9cea-d1641e772b62 CLINVAR:370357 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c59d8608-72c0-4e07-858f-4de17a3a41e1 CLINVAR:370124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2e3ce3b-dde5-41c0-9cb2-66b96d462509 CLINVAR:370124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21025465-a89b-4ac6-af52-2aed78211bbf CLINVAR:189144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7b49b21-1b68-46f0-8c1e-68607b5c9efa CLINVAR:189144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3f83a62-7830-4eff-8bb0-5833e016d183 CA401364293 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2eaab4d8-a7f8-4c6c-98ba-180c8edfcf44 CA401364293 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f20d6da0-c90b-447d-8772-bc4652d0d2bc CLINVAR:574052 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d01789d-8d5c-4aec-96bc-6733cd4af039 CLINVAR:574052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a10cea0-e1d0-4d9b-918c-bc9a2a908775 CLINVAR:556975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5f772c3-5989-49c7-8a5b-b72e57c41da2 CLINVAR:556975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7854ae-94b1-474b-a63b-05964176ddaa CLINVAR:102894 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 56232515-0aa4-4759-b5c7-5fc06bc142e5 CLINVAR:102894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2cd08ff-8c4c-4b07-9b7f-a6e05223b5ce CA16020887 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fdf455b-9126-4919-b145-87289322fb8c CA16020887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b06450a7-3b39-4be0-a371-88e621abb2fc CLINVAR:13329 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e25e0c38-f9e3-41dc-b43c-06245ab41265 CLINVAR:13329 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d7dbbad-d5a4-4b03-a98f-d0478df8b7bc CLINVAR:43568 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb358898-bcf1-4c1b-b461-9ab14ece76eb CLINVAR:43568 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3a00293-060d-4f99-8729-a42ef662a325 CLINVAR:43495 biolink:causes MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 898ea40a-5170-42d6-986b-e48337b73d2a CLINVAR:43495 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b768ec51-d916-4342-81f8-83f6f5e94fae CLINVAR:371781 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41f333fa-d4c1-4853-a600-06e9cf645ccc CLINVAR:371781 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 187b3105-6ad1-4b25-9ced-05f4e4378d58 CLINVAR:178283 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ec02e26-58f5-4ca5-ba8a-79454a91b2f1 CLINVAR:178283 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a307ce66-d9d4-4399-bb81-d3c03351089c CLINVAR:92756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07a55975-821b-4d67-b4c5-a34ab0652985 CLINVAR:92756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b2fbcc0-3344-4806-ad65-4d27e1a53e0d CLINVAR:265979 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 18f710e3-e247-403b-a94c-36b968ce2631 CLINVAR:265979 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d63732fc-d026-4f02-a1fd-215e0391c402 CLINVAR:549981 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17739415-0be9-4ef9-a1bf-428fcc368902 CLINVAR:549981 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8442e31-5d37-4cca-8456-6a092e5f5f41 CLINVAR:177844 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb05561a-71eb-4d36-9496-b3fb6aaf0814 CLINVAR:177844 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f46a7afc-64b4-432d-aae8-bc86cbda8251 CLINVAR:13975 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d17b4054-5269-4d4c-b6d2-3b7cb75a0c51 CLINVAR:13975 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bd1e70d-651c-4989-bdcd-3078cfb72242 CLINVAR:40370 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 333e54e9-13dc-4c3c-bac0-7ad12ee4f9c0 CLINVAR:40370 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52cbf4b4-0202-4725-b71b-e9e3d78ed4fd CLINVAR:225136 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 478a0311-757f-4450-8530-453c1aa41be8 CLINVAR:225136 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66d09e81-e85e-450a-a928-0acf9ad68d62 CA16020831 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen efa62166-c98a-432c-a0a8-39ebb9ce1716 CA16020831 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c8612e4-9492-4725-92db-7a8f3cbb07fc CA16020832 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 62567558-5da0-4b56-a5fa-38c697983f8d CA16020832 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47fc5ade-7ed3-4288-8fad-f931795fdc6a CA6748883 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6007b9b8-3d32-458e-8656-fd6e43090a2c CA6748883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab43fe3f-7961-437d-b472-9418bd2d146e CLINVAR:177876 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ffdd1cb-5ec6-4cf4-9f64-69bea77c9530 CLINVAR:177876 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a2d625-cda9-40d6-a4c9-867c31735b3c CLINVAR:41443 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b59a0395-10fb-4e1e-96c6-4f3bb9c3879a CLINVAR:41443 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b23116ba-be69-4819-95ae-6bc20ce53f3e CLINVAR:13964 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 596be21b-95fb-4d4f-a81d-3bdd170b05ca CLINVAR:13964 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25fde354-39b3-416d-8331-c0e057bae0f2 CLINVAR:561347 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85c017e9-8eee-4f98-8f28-0e279bbb6714 CLINVAR:561347 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ebc1e9f-2a22-4f10-8ce6-1b8bc1eb5a42 CLINVAR:222774 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b66dbed-0cef-493f-9593-c05de9b50bc4 CLINVAR:222774 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e99a0198-4dd6-4dc8-a0d7-3fe28d072373 CLINVAR:477722 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4c10b4b-060e-4f30-b3a8-23a6fab44314 CLINVAR:477722 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e885f565-734d-43b9-8503-24bdb8ff7775 CLINVAR:359048 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2cbc00e8-128d-4a95-88a5-2fd399bf5228 CLINVAR:359048 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac890667-ad05-44c7-baed-1986ee16fd48 CLINVAR:40654 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 231584cb-a86d-4ea3-97a4-ef12d79126ef CLINVAR:40654 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cb7660c-d9e0-42d0-aed3-1808f942d976 CA16020836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f904705f-fc4e-431b-9fda-880a27bdf041 CA16020836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dded53d-4e14-4284-aa22-3b1ab2b891ce CA16020854 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2e960c0-0f07-4c1e-88d2-c8c149bad0c9 CA16020854 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6e87fc7-878c-43e0-873f-021c79c8eac9 CA16020922 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5ad6a5b-0715-4bde-88fb-f42aa2c38db1 CA16020922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f4e1e71-9e54-41c5-80db-43f46e07ef5a CLINVAR:228282 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94401961-d0b3-429a-ac78-444fe002e0d2 CLINVAR:228282 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd346303-3e0c-45a9-9eb1-b988662473a3 CLINVAR:229012 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8ec5e72-55ea-4ea8-bed0-9e1e38559ac7 CLINVAR:229012 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e7ea7b0-1e8c-49ae-a029-274498008967 CLINVAR:43185 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8608586-8b6d-4ddd-9135-8b57483693b6 CLINVAR:43185 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c176a0-d5b4-493a-b85a-45e0dac0f19e CLINVAR:569590 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13f9cc88-dd9e-49b6-b7ee-6b345b2b3915 CLINVAR:569590 biolink:is_sequence_variant_of HGNC:6842 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc28a448-38f6-4484-9d90-1f3aac2e41e5 CLINVAR:181553 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40eed39e-72c9-4726-80d3-04740f5b7947 CLINVAR:181553 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d031a60f-ffd7-438e-8e76-8ffe59899fa2 CLINVAR:561935 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d87ee4a9-9d40-4988-8de6-574e131962f6 CLINVAR:561935 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a04bdfde-9ce0-422f-a435-a4d31fec76b8 CLINVAR:228273 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b7482035-663a-4d93-8536-5224862b25b7 CLINVAR:228273 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5d4263d-7cf4-4f8a-aa84-9ef48fd8c10f CLINVAR:40388 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0fb89764-00ff-4333-b6da-cba597fb4a60 CLINVAR:40388 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a616b5d6-cbab-4a5d-93f1-b4bd181751ed CLINVAR:280033 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08b03aef-3109-466c-8fcc-8c9f79259b5d CLINVAR:280033 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d1a1573-cd90-4828-bf6f-a7b9cef335bf CLINVAR:280939 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 389ef05d-7e8f-4dc0-8340-15ec7f2037f3 CLINVAR:280939 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc5e5f47-878f-458f-85ab-74c864e2ea44 CLINVAR:575203 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a0b12e7-d63d-45f4-819f-c8c7f86836db CLINVAR:575203 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9373b24-8307-48bd-8f46-ccd1353ff858 CLINVAR:427613 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93fb139f-4b96-4870-8872-b9ed26843bc9 CLINVAR:427613 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46a8bfa9-60bb-4dfe-b1ff-412558d3ab59 CLINVAR:427621 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d72ae71-b9f7-4401-974e-362008c3a9dc CLINVAR:427621 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc25098d-b198-4931-b4a1-b9a8b483ba9a CLINVAR:427619 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 756a5744-4290-4bb5-bef2-868c077e5470 CLINVAR:427619 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81f41311-87ec-4141-a756-2466979c98b4 CLINVAR:449089 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81523158-90b5-4281-9517-c7cf1a8e2bb2 CLINVAR:449089 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f1ed70f-e902-43f5-9533-693193167de3 CLINVAR:141771 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5dc57c9-2f62-4438-8269-b40c62f6769c CLINVAR:141771 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25277139-aae6-41a9-8671-c9c7ad7c7f72 CLINVAR:142088 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77c7ca00-464f-4ad5-9843-e4ce548a00c0 CLINVAR:142088 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 029707ef-1f1b-4397-9bf1-456336873bac CLINVAR:184068 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5735d9f4-de65-4199-81a3-d2be8e659e2c CLINVAR:184068 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2444394b-a303-4c8a-a885-596e7e153fdc CLINVAR:135912 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a207247-2017-466e-81a5-994a83c83e27 CLINVAR:135912 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 460ea63e-3dce-4c82-990f-46f9c555cf6b CLINVAR:301423 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09e2063c-c812-4d26-842d-c5fa78a02883 CLINVAR:301423 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 807f44fe-8982-4226-b485-8b2c125de5e1 CLINVAR:428268 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ff4260f-2cec-4faf-b7e5-63c1643a20d0 CLINVAR:428268 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77be830b-f04e-4042-8c44-0fc2d1430770 CLINVAR:189414 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f6ad1e3-8725-469a-8a1e-9bd6bcdd294f CLINVAR:189414 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a99c45a-2aba-47ce-9d08-ca5082fe5075 CA16020943 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cba78128-6f86-48f3-9a4e-a5aa40ebdd6d CA16020943 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0008f2ce-7b9c-494e-87a3-f077e1cf99d8 CLINVAR:102583 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2a9a487-a644-4cca-88a3-04a1f23cb409 CLINVAR:102583 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d7b3097-dbed-43ac-8551-1c9cc4263e51 CLINVAR:127663 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a75b79d5-e71a-4b15-b36e-d05751a5278d CLINVAR:127663 biolink:is_sequence_variant_of HGNC:37212 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 339a31c0-c472-4e3f-99a9-bbe13ac8c530 CLINVAR:102922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb7bd40b-bcf3-47af-8a3a-63d3243575bb CLINVAR:102922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 446216ac-ce03-4eef-b486-d9d8e2994cd7 CLINVAR:102879 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f5e12a9-7f1f-43cf-b7a3-c01b4f12338c CLINVAR:102879 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a78a87f-8b7d-4622-9e1f-3c4f67831a9c CLINVAR:556894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01a112f1-8a7b-4055-967a-9e85e7353ff0 CLINVAR:556894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595c8585-c686-4780-982b-21b97bca1507 CLINVAR:102852 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen beb3b7a3-2db8-400d-b34b-769bb5242128 CLINVAR:102852 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4e1bb53-1c6e-47a4-a21a-e878fefe7e3c CLINVAR:102782 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 855a58e3-7eaf-45b8-b2bd-374efb606f8d CLINVAR:102782 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69e3f13f-f864-415d-9501-f809fa70ba33 CLINVAR:625290 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c2402be-ec9e-46b9-bb8a-4b702d79bb9b CLINVAR:625290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee8a69ee-9e04-4ce3-b1c7-b0a0cdf233cf CLINVAR:625286 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa468a5c-2336-42e6-846a-f2fc880273cf CLINVAR:625286 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90334957-86b4-497f-821f-dd28b249d75b CLINVAR:625287 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38c84119-a61c-4c87-8208-5cd7ac5c54d6 CLINVAR:625287 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 674e05d7-ff70-49f6-a97c-3bd9172cff3e CLINVAR:553851 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d7abe588-b605-4d6a-b3b9-9f79ae3d399b CLINVAR:553851 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c7ff390-687e-43f3-beeb-10bb7e836174 CLINVAR:102618 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3386d72f-88ba-4115-a7a8-293a57fd8e13 CLINVAR:102618 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55bceda2-a633-4e5c-b3f7-d4cccdf896ee CLINVAR:625291 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab60e01a-6740-417e-846e-b3afc5f9c275 CLINVAR:625291 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ab4d0e9-aed4-4980-9899-dfafb6b67a59 CLINVAR:120257 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d3880ef-18c9-404c-ac4f-b715c4fde054 CLINVAR:120257 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c86f7d73-c333-4bce-af40-7f32573a0c3c CLINVAR:120261 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1d6b99b-a867-486b-9c2e-39a7f1038282 CLINVAR:120261 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0465e6ad-77df-4cf6-9a8c-78b0b388ee4e CLINVAR:102921 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f436b2a-76dc-416e-8c16-2787b440aaf3 CLINVAR:102921 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de153de4-4b2c-47c4-a2a9-a99df61d3e84 CLINVAR:579 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30a2e6a7-2920-42db-9654-7f3c3822d103 CLINVAR:579 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f268c2bd-1c34-48b1-9f33-69df6cdc970d CA16020912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4123e6aa-3c8d-4ea8-9e95-354cfb3f2061 CA16020912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f40a3c1-ad33-4c36-8d94-7c93aec35ee6 CLINVAR:102491 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a118bc09-d3b9-4d10-b509-90236933e2f9 CLINVAR:102491 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c14dfd46-51ae-4976-a8ed-da5ee6dbbde1 CLINVAR:102763 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0922e33-d898-467a-a367-e2b34565f76b CLINVAR:102763 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060ea21a-fa9e-4a34-a321-bd6dc62860be CLINVAR:614 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e234cb47-dddf-4108-af1c-1ed42708cba9 CLINVAR:614 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c226a3b-6558-4944-80da-7a144d8ff4f5 CLINVAR:625288 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba73e7c6-2bed-4c54-b29f-e4e6915e02dd CLINVAR:625288 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c7f0621-6d0e-4f3a-8496-acac9d7dd4e3 CLINVAR:635217 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6520433-fb6c-4295-8b15-10a62977247d CLINVAR:635217 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fddc77d0-4b0f-42ba-b423-8b2351ead10f CA16020992 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b34b6ee-39b2-40be-9dba-bc553de1f4f4 CA16020992 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d714821c-bb55-4bfa-8578-2ec414c6f2b6 CLINVAR:449488 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c03968b-9137-45ab-b6af-c4ffce4d8508 CLINVAR:449488 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dedf1573-998e-4ce3-81fc-2c793325ac8b CLINVAR:224749 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 528ac4d3-018f-4f11-887e-55aeeb2cf094 CLINVAR:224749 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 150ba6ab-8ec4-4e45-ab6d-4c8722879c66 CLINVAR:102758 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2f8bc5e-398f-4bf9-a9b7-df0914e26d1f CLINVAR:102758 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 117c2171-5c68-46bd-93c6-9365e963d3f2 CA16020953 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0d60bb8-4aea-4a21-a749-9b08c7a65d79 CA16020953 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 442472a5-3816-4490-820f-2cc3ee4a467a CA16020757 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6752a127-e036-48c2-a4c1-8ea685cf4175 CA16020757 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 076b3a03-b570-451b-a399-a38343ad040d CLINVAR:102656 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3ba0eb0-6364-48e5-8e31-4ea626c8d541 CLINVAR:102656 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6385c869-cbba-4049-9262-7198338b3b88 CLINVAR:665198 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e9ae939-8291-477d-adf4-8e07ae042621 CLINVAR:665198 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff9190f5-1645-416b-97e6-5aca6f51a4c0 CLINVAR:102806 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e34797e-220d-4862-af3b-cabb673f8d3f CLINVAR:102806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0832dab3-2251-4804-9164-90a518e5483f CLINVAR:102793 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8df2d19b-618f-4600-be27-ecc80c5376f4 CLINVAR:102793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d68ad44a-0917-4d12-a99c-e34a5035568d CA16020859 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16ed119a-2cd2-4f6b-9418-ec9a3b3dd750 CA16020859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f265af23-f3c8-4636-8a9e-1f23e4981bf6 CLINVAR:102509 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b94fb5c9-0aa8-4565-b809-f044ec086083 CLINVAR:102509 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8be4086f-9aec-431f-aeab-5e8f208b1094 CA16020946 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen beb1dc1c-5266-4c0c-af1b-825fbf58d8b4 CA16020946 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c4e422-f92c-4fd9-a3d9-1ae24ca2ca1e CLINVAR:43325 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f8b28cb-b0f0-4b9c-bea2-290f16673d55 CLINVAR:43325 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3ec0fd8-889d-4ad4-b1b6-ef69e8958f05 CA16020803 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e9a8b6d-124e-48e4-b25b-c8bbe8744e8f CA16020803 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56b74573-7a70-4d83-b423-2208b6ce94e1 CA16020971 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5901b094-4029-4348-b111-66a40ae3201e CA16020971 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a58dafb2-d337-42ef-ab54-8c507add94b7 CLINVAR:102576 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13e0cf86-7ce7-4093-92a9-69fff2dd4459 CLINVAR:102576 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ccf4a1-ea95-429b-8cde-2d4b2d3c92ac CLINVAR:102707 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac1a3eb7-4218-4b70-b10e-a41fdef972da CLINVAR:102707 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53f4961c-d3e9-48cd-9d5f-e8b082885647 CLINVAR:102535 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b07eaf24-b7a2-409d-a6ab-c16e1591306f CLINVAR:102535 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4c0e631-215b-4d53-97b4-99cfc7dc896e CLINVAR:283894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed503aa3-96ce-476b-b2f7-817bb68276bc CLINVAR:283894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acfa85a3-84e8-41d7-bb07-84e4c5e49f53 CLINVAR:556334 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8f01987-935b-4d0d-adbc-db95f41f3556 CLINVAR:556334 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63f05fb-0679-47a8-8431-fe143bfaa998 CLINVAR:556881 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a889a81d-df0e-4161-b6c6-c814558d60eb CLINVAR:556881 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5da20b7-5546-41e4-bb52-74de4049d02f CLINVAR:196099 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65ed89ab-bb94-4c46-a4c6-76ccf3c63a9d CLINVAR:196099 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ce114b4-9d9e-4d58-a39d-04c9615cd860 CLINVAR:44633 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 047b8951-7f96-42c8-8534-24f401d50c9a CLINVAR:44633 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d77cd6-1728-4bcf-8b17-4b65e477487d CLINVAR:438796 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dcb76669-2a2e-4a22-9690-b8a54c62edd8 CLINVAR:438796 biolink:is_sequence_variant_of HGNC:6407 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f626af8-c884-4bf2-87f1-76dee50e5f7d CLINVAR:167260 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e96bef16-60d3-4c10-b27a-db689fac4d24 CLINVAR:167260 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70a4d909-0401-4460-8070-bd604a42a2ee CLINVAR:375946 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bff5650a-e71c-498b-838d-d87468150a01 CLINVAR:375946 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4049c523-0b33-41cb-a305-200fb171bcd3 CA6748704 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed8d8961-7b44-43ee-b247-603cb5d27220 CA6748704 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79b7f2c7-6f25-4afb-abf1-ed6c404ee370 CLINVAR:630 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6dd96a4-ef01-493b-aa46-b423b20b5045 CLINVAR:630 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdb02e75-09bd-47da-b913-b34fff1b4b53 CLINVAR:609 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72531d22-b0c1-4c46-9ae1-965fff9c12bd CLINVAR:609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 583e6749-c941-4863-b289-16f358a8b8cf CLINVAR:621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd484626-0c87-4ceb-9a3b-69c2a87b6174 CLINVAR:621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c61f9a2-c791-456f-9c6c-cdcef1b7d48e CLINVAR:224753 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b02245ef-9b9e-45b3-a3f6-e0a56dc8b2bc CLINVAR:224753 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ab8f006-3209-49e1-93ae-b39fe5638bd1 CLINVAR:166479 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f72287c7-ca16-4c20-9c38-1085e63fbd90 CLINVAR:166479 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfd9ed83-1db3-4ad0-baec-5a85c8dc9cf2 CLINVAR:178685 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95bbce33-6236-476c-b718-7193944dbc86 CLINVAR:178685 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 477556df-f8ca-4eb3-ba58-236638ac2f7a CLINVAR:932902 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58a215ec-43e7-4256-98f9-a1ed28d85201 CLINVAR:932902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ff0e02-d555-4fc4-afa0-04d8fc7313b3 CLINVAR:371235 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20deb5b6-70bc-4b39-a699-b6cfc3316d61 CLINVAR:371235 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09fa02f3-a444-414a-93de-12088940bb84 CA294887189 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af797dba-dbae-4a36-a5c0-ae7d3a496ba1 CA294887189 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74ed42e7-2bff-4ce1-9b73-373000b8b188 CLINVAR:188841 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8cb0f739-787f-4339-9f77-c1f93930727c CLINVAR:188841 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1291acfe-c68d-4614-8418-2db008cb7ec8 CLINVAR:370651 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a79289ef-ae22-4a34-b7ac-523f625aab7b CLINVAR:370651 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b174af7-f8bb-42ac-9974-77531dcfc72c CLINVAR:189065 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a18901e8-38e2-4146-a3e3-8c1b6a980ee7 CLINVAR:189065 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e05c70a6-f340-4efb-a5f7-eadffbd4177c CLINVAR:550355 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a9406c2-7d5b-4e76-b679-818451ee4f48 CLINVAR:550355 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2b9edae-6cca-4b88-bfaa-e94357af096e CLINVAR:578595 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d315cf7-f20b-4bfe-87a6-d744663db562 CLINVAR:578595 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cffa3544-838f-49ac-96a8-469bd471b467 CLINVAR:560377 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7727ed68-706e-4da4-98a9-74d6de9a74f1 CLINVAR:560377 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a97003-a8e4-4973-9e63-4886647bd7b9 CLINVAR:654482 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c4ddb91-4ca6-4e8c-a22d-6ca4e6448082 CLINVAR:654482 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 240fa0e6-cbcb-4558-b1a7-476edc3082fb CLINVAR:637958 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e960e09-fb48-46a1-9351-628560f59607 CLINVAR:637958 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 181b7a4d-a9d2-4929-9002-5dfb51358cab CLINVAR:188858 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fbba2e76-a822-4381-a31f-88d89e269d37 CLINVAR:188858 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfdf6f11-c463-40f3-900a-673aa18fcc45 CLINVAR:663894 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a76905c9-6f3e-4f75-b73c-9acf958a4a0e CLINVAR:663894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f1549cb-ec8b-4dd1-b41d-35912c877542 CLINVAR:372968 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4223428d-5d55-492b-ba75-81e7928d9153 CLINVAR:372968 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2004d322-e775-46a6-9c39-c3ba7b597124 CLINVAR:370268 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 440dbd91-e538-4c91-968b-1f218e38d6e0 CLINVAR:370268 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d346c82-0f40-4370-b513-3383c2adf91c CLINVAR:649354 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8e46d0a-448e-4f5d-ad62-9840fb80afae CLINVAR:649354 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 533c94ad-f730-482a-bb81-a14ae5ff609e CLINVAR:552368 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6b54cbf-c588-4c9f-a8b4-e58e8278a8b1 CLINVAR:552368 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2c7835b-c241-4a5a-80af-2d914558528a CLINVAR:92479 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19957fcc-1eaf-431c-9150-a9abf49b1c89 CLINVAR:92479 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e02a978-420c-4452-982a-22f36a35d5d6 CLINVAR:286229 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9fbb8512-a9ee-47d0-a328-a316c877f726 CLINVAR:286229 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15043b99-d00b-43ba-9c26-34578c691361 CLINVAR:280063 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 453658ad-f830-48d1-9536-9de9259b1759 CLINVAR:280063 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c31338c-8962-46f5-ab77-120376bed742 CLINVAR:370904 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 185eebf1-a4a1-4eea-8e16-9090eca781b9 CLINVAR:370904 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 630c4e45-47a6-4c30-a424-4ee9f95d7e36 CLINVAR:429727 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f371b1a5-0a84-4fc3-88c2-0bc4f33be839 CLINVAR:429727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b3b7a4-d143-4f8f-9937-bc1d7afb13e5 CLINVAR:4034 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36d1d9a3-2a3e-411a-85a7-981aacbb7837 CLINVAR:4034 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38d2813c-4602-4607-aea5-fd19e7d5e363 CA8815306 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1c75e2d-e22c-4bcf-a1c0-27016a1e4f4b CA8815306 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92e989ad-70b9-4182-89a1-8651de9b0aa7 CLINVAR:556265 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92deb546-a61f-4d9b-b0de-e0be5bfe0efe CLINVAR:556265 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37342348-a476-417b-8f4d-c48e69148763 CA294896907 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb032e39-8463-4978-8fbb-f2fcb2374fb2 CA294896907 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b410705-94bf-428d-ac08-8a8ea91835ec CA913184909 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b192119-811b-4707-9691-03790f5b3684 CA913184909 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5f05d79-4493-4a87-affa-8624e6aa1392 CLINVAR:188728 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 952f8d39-3709-489f-bed3-d3dbb9297e3b CLINVAR:188728 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e5d4210-7b96-42eb-9e71-a8e52f91963b CLINVAR:426593 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f8eb90d-e468-4a55-a5b1-b18177952af1 CLINVAR:426593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3617a429-0588-447b-abc0-7f423e95684c CLINVAR:188797 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15d2c817-764b-49df-91ce-4e449c9537e3 CLINVAR:188797 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d020e761-44a1-4d12-9995-c3a058925957 CLINVAR:284093 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48d8f189-85e2-4b7a-a1d9-d1e7ae912be2 CLINVAR:284093 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f88759-4249-4e91-8373-8dc1a178c103 CLINVAR:379593 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1fe15b64-393e-4076-86b1-fdb8009e9047 CLINVAR:379593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c5ea944-cc49-4504-b316-440ab6cea0c5 CLINVAR:279811 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen afb66b73-aedf-40e2-8b89-785ff0f539ab CLINVAR:279811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71b7417a-2215-4263-a8b5-72ae525f9bbb CLINVAR:188902 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb40458e-429b-48bc-9100-56af9d7faa80 CLINVAR:188902 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 149d0ea1-0e84-4dba-ba97-aea703629563 CLINVAR:188924 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df44992c-f571-4bf5-b7f8-84f25b292932 CLINVAR:188924 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee0f9591-ebdd-4e81-9ea1-29594b514174 CA658795262 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 692fe75a-394b-4288-81e9-63683a08cce6 CA658795262 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a410bb04-c9a7-4223-b141-6bb0eabe85c1 CA913187393 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 041abd8c-a447-4e2e-9be1-0dfdc85223d2 CA913187393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6863f063-579f-4225-99da-6110c3fbbf2e CLINVAR:188903 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee856574-2cb8-4c9c-8b43-3c745ae7a83d CLINVAR:188903 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db521c8b-e17b-42bc-9fad-adb22f712426 CLINVAR:499380 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e3313e4-ef3d-48c1-80e2-857363d54142 CLINVAR:499380 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1385fa-9888-4485-917b-04f6d4733355 CLINVAR:189184 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd248d99-acd5-48bd-a62d-7a5c4bf9812e CLINVAR:189184 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef6bbca8-a91e-4d95-81b0-26062fa95f7f CLINVAR:189188 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b7da0f1-ac0a-4611-adf6-4af667ea35d8 CLINVAR:189188 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3a6f603-3a40-4f7c-a5de-65800c9c7f3b CLINVAR:102788 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5ec47f2-4f37-4ba0-8449-e2e55a6ed283 CLINVAR:102788 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8892b274-2469-4c0c-b38f-dee1e2a8adfe CA16020973 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f672e81-ef07-4bf0-85af-4f516f03a328 CA16020973 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53880e46-7cb9-4d83-afd6-9adefc72937d CLINVAR:102569 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c5245b5-b3f4-4197-a91d-6564e5905a7f CLINVAR:102569 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f43f596-8722-44cb-9784-7e7c0aa97857 CLINVAR:102759 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bea17e9a-1fb2-4089-beeb-7079e130d684 CLINVAR:102759 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84bdb44c-df14-441d-a4f1-08082521df4a CLINVAR:102476 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1adc397f-28ba-467e-a2a9-1bc553287439 CLINVAR:102476 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd9e65c7-51a5-4717-a341-473b1034c2ac CLINVAR:561221 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3072e19f-6749-46bf-82a7-09c110ecc8d3 CLINVAR:561221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 016d522f-91c1-47a9-bcd1-f1426131ad38 CLINVAR:561228 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7fbd44c1-a518-4324-b4b9-dfd6d98dcc88 CLINVAR:561228 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df9caffd-aaf2-4a67-ad13-bba67b56760b CLINVAR:532681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d84f8f63-ebcf-4d34-adde-602ff3cdd8d9 CLINVAR:532681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f960d29-7bf5-4c48-84b7-136e563dfa2d CLINVAR:561230 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42e9c627-7b68-4af3-83b1-ed60d4aac1ab CLINVAR:561230 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db659172-bdc8-48a8-8ac6-76bf4917bc34 CLINVAR:561242 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b88b8311-6c6f-4688-b499-58f3d2187d02 CLINVAR:561242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0943017f-99f0-4c36-95e7-2b8ec010400c CLINVAR:642956 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d10d5c98-057d-41a8-9fa0-c414133a5e59 CLINVAR:642956 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e65e14c-7d18-41fa-8bd2-ad20b0716242 CLINVAR:464001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43458308-4d5e-4ec2-b86d-0136325bede1 CLINVAR:464001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9f973a0-3ed4-4dcd-a6da-f5070559540f CLINVAR:532686 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbc87c1a-45d8-4946-98b3-b2eead2ead53 CLINVAR:532686 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edb8ac43-fc5a-4a87-97e7-733764061c66 CLINVAR:561255 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 722e896b-7db4-45be-a39f-174588b522bd CLINVAR:561255 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211b610f-281a-49e8-b40e-93133ff0c024 CLINVAR:532682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a7a42fd-9900-43d6-ab61-0a9ec9933a15 CLINVAR:532682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a25d728-41d5-4924-994a-5759ace3cae7 CLINVAR:581331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08b91cc4-791d-43d0-9292-0fa8effef6db CLINVAR:581331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24349d3a-c6cd-44a0-b164-4aa733248da9 CLINVAR:572808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b32f0b27-41af-4f51-88f2-358ac0141a55 CLINVAR:572808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f874a99-6a7d-433e-8ccf-6eab7908df5f CLINVAR:370276 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8aec755c-7656-4b1b-bb6e-d3f418394ae8 CLINVAR:370276 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92dcae75-293d-4b75-9af4-4c87626008f6 CLINVAR:188996 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0c3159e-6744-4d2c-a4b5-3ffecae8ea35 CLINVAR:188996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d950f1-f987-4dda-8e5c-dfaa03b0cbf3 CLINVAR:553894 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b0ba84d-291b-4bc5-95cd-92de4ce22c13 CLINVAR:553894 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29c3e8b2-2c2e-4b5f-a440-9538ce417339 CLINVAR:595469 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0f31934-cf23-494c-875f-cbccfa291569 CLINVAR:595469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5825d339-52c3-40dc-8c0e-9cef7cf9e10b CLINVAR:593486 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4987baa0-573c-432a-ae75-a4ae12744e23 CLINVAR:593486 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36161333-7466-4068-b8e1-6f378d0e6f73 CLINVAR:183727 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f26e7a2f-0580-445f-866f-92017b636c0f CLINVAR:491537 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06d7f60c-29ed-4765-a43e-3f756934302f CLINVAR:491537 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ebe96d9-98bb-4f85-a05e-458b05d996c1 CLINVAR:421431 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec4e02c6-8dd8-4994-897d-0b893be54af7 CLINVAR:421431 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7aa57c7a-2ec7-4d12-b7b7-732c5b50e974 CLINVAR:406652 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0a3e075c-1cd5-49ec-9b5f-fd512f4a5952 CLINVAR:406652 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05de567e-cffe-4e62-a6fa-41d16daba90c CLINVAR:449922 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 268f3652-51aa-4370-a6d6-3753049dd6be CLINVAR:449922 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c4d5ea8-1217-4fc2-9623-b34d1b639674 CLINVAR:532473 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b7677ef-eb43-4183-a7b1-e1a76dcd043d CLINVAR:532473 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ddd0e22-3785-4930-804f-21488586ff62 CLINVAR:428623 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62187b27-ab24-4a68-9416-6980c6267e6f CLINVAR:428623 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eebfdf88-a541-41a5-96a3-150929bcdedc CLINVAR:186267 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ccf4cc75-19ec-4dfd-aa63-ed17d13e4dfc CLINVAR:186267 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a948d488-206c-4411-b8ff-130837ed00fe CLINVAR:545807 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 903a1817-8148-45c5-afde-bf51bb569244 CLINVAR:545807 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33469a4-badf-45da-a712-c65834350471 CLINVAR:265543 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d33da1b-e886-4a38-86ec-72b77d9d7157 CLINVAR:265543 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee561269-c7c4-4b12-ad3e-db5f6fc164fa CLINVAR:483271 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73b01e7d-4b6c-4776-bcdb-108cf41d1999 CLINVAR:483271 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b42ba23-d25e-46da-af69-f56921b9de04 CLINVAR:485481 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd186998-1677-4751-9412-d50bcbe4d552 CLINVAR:485481 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e927d9d1-c55b-4c44-9dc6-71904affa3a2 CLINVAR:428621 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8316ed0c-c790-4fb1-a47a-85f534970807 CLINVAR:428621 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca18929b-a487-4011-ad5e-727ee6a6863d CLINVAR:479518 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d7d7c7b-a135-43f8-bdcf-897f29b3d5c3 CLINVAR:479518 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63d5c0b9-5a50-4be4-a01f-86907bf72839 CLINVAR:265511 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6782447-875d-49d7-b7d0-93c17f6b4749 CLINVAR:265511 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d25e0a2f-c67d-4c97-98be-dabe103e96de CLINVAR:216589 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0c3818e-bcda-49d4-9b5b-7e6e65acd57e CLINVAR:216589 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba5b9541-f8b6-4bfd-9130-2db5f73cb59c CLINVAR:234654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7757abfe-9f3a-4a39-9110-a8d3cfcea4c1 CLINVAR:234654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81030aec-3e69-48af-9f83-5c4d2778b86d CLINVAR:142826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67557400-4841-4033-89b9-0af8de8bd373 CLINVAR:142826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b43098a-69e7-4116-8014-553cf94e9a6e CLINVAR:463735 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8483b846-4279-46dc-bf17-a6bfce55ab3b CLINVAR:463735 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a14c28c-9ef4-4e5c-82cd-f320526e8e80 CLINVAR:12237 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f115517-efab-4561-8948-a107e37e3572 CLINVAR:12237 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3244f479-76b2-423c-8ee6-930ed0dbe31c CLINVAR:136065 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee754798-3daa-4872-ae12-25ce66aa1035 CLINVAR:136065 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15aa3d98-a5dc-4d37-b5b3-c14504aff331 CLINVAR:479524 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8db605bd-0d93-4f2e-9194-7c33de2beadb CLINVAR:479524 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 837d2c88-edff-4471-a3ae-67209c8e6596 CLINVAR:423041 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35917156-5edc-401b-9cbd-28ed13ed25d7 CLINVAR:423041 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e15869c7-5689-4417-806d-2cdffe2e3b1c CLINVAR:406654 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a47dcbdd-61f7-4b2c-9780-b9a4792f3968 CLINVAR:406654 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4df876f-d377-4606-a614-3d1353b09306 CLINVAR:481011 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb488fbb-f050-4c94-99ad-e70f48aa4f49 CLINVAR:481011 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08982f82-92db-4a6d-b7bb-fbcc3c6c8ccc CLINVAR:428631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc600aab-8499-4954-b3e6-663d943998f9 CLINVAR:428631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a43d011d-a8e5-4e40-9467-64b9a31cbcec CLINVAR:406633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dcff2ba7-f3e6-4ceb-8a66-f14e91b03cf8 CLINVAR:406633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3503714-9a3a-453e-994f-355fec2273cf CLINVAR:418111 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c6d12d0-635b-48b9-b058-2b2f15fdeaef CLINVAR:418111 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6d046c9-408d-4978-af87-e5c886edd12f CLINVAR:428632 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c332b1d-1593-4431-bf59-2185e3a6854f CLINVAR:428632 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd7ef949-d298-4606-ac16-7943640d81d6 CA16020723 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c55feebf-ff0a-40ff-84d2-41f06b4cb269 CA16020723 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a46ccef1-1936-491f-a247-da9ad1954ec4 CLINVAR:102514 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c303e411-4e63-4c84-8c93-a605795827e7 CLINVAR:102514 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf9cf3e0-b778-4835-b940-8731b820e166 CLINVAR:21389 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42e73d4c-da4f-441d-a710-276a7b02cfba CLINVAR:21389 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 668d0834-d77c-42aa-9a92-985197d697be CA16020867 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e036ff2-337c-4ff0-b7c9-d8fd2ba2c649 CA16020867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c8bb762-7ada-4111-a28b-e2495f1f1226 CA16020880 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5963bd4a-ff1b-4f0e-8af6-c5d34be1943b CA16020880 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0669303-fc97-4de3-b5f4-30c73f72bf97 CA16020919 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9dbc238a-6ccc-47a9-b4a0-648fa6ba6d86 CA16020919 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85adef0f-7286-4eaa-8bae-7ceeb31603bd CA16020945 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 945f5552-1408-4a33-a41b-3aab5fd80cda CA16020945 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9028c8b5-68e1-453b-9c10-724c2a46949a CLINVAR:553594 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 821fdcb1-1923-47d8-b812-8ff467b7580c CLINVAR:553594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8be47894-c3b9-4c89-b5a4-5e4ffde9c1d9 CLINVAR:164664 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe11ca88-4beb-453b-b9e8-bea260caaf9a CLINVAR:164664 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa218882-ac84-4f2c-ac4e-4cc722ee8d74 CLINVAR:561500 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e60e0e56-9483-477c-afc1-ecd41e2dbc44 CLINVAR:561500 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 659c0be2-f789-44ae-9a77-48fcaa4cf3b8 CLINVAR:40389 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a3b2591-ac4c-4bd9-981e-aff981225690 CLINVAR:40389 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccf109fb-dc0d-47ce-b3ff-86f0cbd64f03 CLINVAR:44603 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a90a7692-8f5a-4386-99de-471c696944fb CLINVAR:44603 biolink:is_sequence_variant_of HGNC:9644 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06a21c20-4690-4e20-912a-7c1389308fbb CLINVAR:504514 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75875cea-6b2a-464f-a121-e08363c7c985 CLINVAR:504514 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 817c6e76-b687-468d-9a95-2960e55a3c3d CA16020906 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 233d7194-7dd3-4ff6-88b8-ee8f72442e17 CA16020906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 501c3133-2030-4341-8375-b08bc41fd5b9 CA16020975 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62a8c1d3-3b56-4dad-95bd-d09efe093782 CA16020975 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12effd88-3a4d-4c1f-aa26-1c1b1283c540 CLINVAR:626 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dbe4da62-db4e-4429-b9c1-07c93b9460d0 CLINVAR:626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ca36799-f207-4b3b-ab9e-09fdb9eada3a CLINVAR:634 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen abad9cd4-6463-4ecd-a0b6-419b323ee733 CLINVAR:634 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c003cc3-65e3-427e-bab1-58dc065a693f CLINVAR:625289 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2140cb42-95ec-4ce8-986a-fb9565d008ba CLINVAR:625289 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ce1e63-43f2-4f52-86e9-8c1ec22b5e1b CLINVAR:626282 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c5da22a-5536-4cef-9161-4011e2e81337 CLINVAR:626282 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c08aa8e8-9359-4f6a-b717-dadd0b14a367 CLINVAR:523937 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7baaba13-5c95-4bb7-95ad-f40456a3e5b0 CLINVAR:523937 biolink:is_sequence_variant_of HGNC:7605 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2638af86-4bda-453d-827a-8f5967bbbceb CLINVAR:429215 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3373c324-b200-4d00-982b-1b2101a11e2d CLINVAR:429215 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7a92cba-0fcd-4681-9bd2-04e1fef0f5fe CLINVAR:188878 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8917efd1-0750-4b09-a718-0fe7abf6f068 CLINVAR:188878 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26b35491-5c7d-4e4f-95b6-01f6cfdf37da CLINVAR:236537 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8eff2e8-57c1-4769-aa49-8bbda0c833ba CLINVAR:236537 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431077a1-0903-4fbb-8e02-b435f0e44770 CLINVAR:166488 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62098ded-bca4-4414-b419-bcf2ba9a93b6 CLINVAR:166488 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9001bdb-94f3-451e-8dc0-e09380b4261a CLINVAR:120284 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c99e9dfa-34c6-436b-83da-7903ecdfa76c CLINVAR:120284 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1ae21d3-45be-4282-8be2-c43f3a1ebdf3 CLINVAR:43298 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 15580ea2-13e4-4e50-9349-bf5284e3c8ac CLINVAR:43298 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84a06fb5-ab65-40cb-8425-64b67935c652 CLINVAR:44731 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4bace7f3-b856-48e9-be51-fce01c4f33f5 CLINVAR:44731 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47796c0d-9c8b-4bc7-823f-4beb76836ac3 CLINVAR:44829 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6a2641d-182d-422b-8250-a64246ad261f CLINVAR:44829 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0483751b-2889-4889-8a76-e82314c6427b CLINVAR:40367 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce57e102-1b11-4cc4-8c3c-78775f8bff56 CLINVAR:40367 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06e1e4e3-e5d7-4381-8c2c-b46a27784cc1 CLINVAR:280446 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3758248f-0f03-42c8-b8cd-e61429fbebc2 CLINVAR:280446 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33752960-c334-4fe6-8f48-2a9fd38aabd5 CLINVAR:44832 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a37aee3-1f8a-4aee-a54c-74e4b3f26b50 CLINVAR:44832 biolink:is_sequence_variant_of HGNC:1097 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 582fb275-1d8a-4647-a64b-17d4d80a797a CLINVAR:375981 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6f74647-86bb-401c-8219-0f44e0894354 CLINVAR:375981 biolink:is_sequence_variant_of HGNC:6840 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1512314e-2147-4ac7-86bf-71d80d9359b7 CLINVAR:120263 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d1fde13-90f1-48e1-955b-490561466bfb CLINVAR:120263 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15d3758b-ade4-4d9d-9976-500046ae5dd0 CLINVAR:120262 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69ff8b19-c588-4fb9-8238-029d9a0ca16b CLINVAR:120262 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b211c492-93aa-4239-8c6f-6e708dd3cf56 CLINVAR:225375 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74003e72-d0e1-481d-af96-ca5a40a2d5ea CLINVAR:225375 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa5c55cc-8599-4f75-aa7e-4fd7af7b6532 CA16020976 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0275ef58-9dde-4977-a39b-5c48e8f5cedc CA16020976 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e610ae-79f3-4120-9a18-f76956dba9ba CLINVAR:102572 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd96c8dc-9fac-4a54-85b8-7960ca017791 CLINVAR:102572 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94405ede-0c97-4de5-aa8e-c479824efefb CA16020780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86ff59b9-f696-48f1-b9a1-fdcabc1f45e5 CA16020780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 789a14fe-3ea7-4bcf-8544-090d365409ef CA16020747 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 444fd93a-7a69-49e0-b5e4-0c7b27acd9aa CA16020747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5179e79-b28a-4af7-b9ef-1fb398fca4d6 CLINVAR:92738 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7419c33f-4169-46de-8075-e61d69f8607f CLINVAR:92738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1342b878-feac-4ae5-8b72-e0aec34ba461 CLINVAR:102743 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7388cb31-1c7e-48cf-9fe3-304db711afd7 CLINVAR:102743 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 429d3ba1-af1c-4470-9746-4e4fdd2ff21c CLINVAR:102747 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 092b67d0-cb5a-4f8e-97f6-54aa272054d9 CLINVAR:102747 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 123d00fe-01a3-4f20-9baf-67a7d9f3c368 CLINVAR:102499 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b66545d-d851-4843-8e7f-fb972c823449 CLINVAR:102499 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2603895a-99db-4ff3-bbb3-c31dc4d0f444 CA16020894 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a08e068-2966-4fe1-9d61-7102a10056ae CA16020894 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bc45d59-f572-4087-b02d-fe1cc84f0e1a CA16020895 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a3bf45c-0dfe-4276-a4be-aeaa739e3af2 CA16020895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a3969a-de0e-46f4-974b-d57a45c129eb CA16020967 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38a22cef-cb45-4759-b704-f9154d3cde7d CA16020967 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dafe1e42-e8ed-49e4-b98b-c6f2ca06e060 CA16020808 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f206069-2c4c-4f3c-82af-6ccc525074d3 CA16020808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecb74486-d907-4999-b848-26b734cc62a6 CLINVAR:120276 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36e2bb2f-1e95-4d67-ac90-4f637e1487eb CLINVAR:120276 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 395a359d-6b53-4d3b-8ee2-dbf6a388218e CLINVAR:102655 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59ce81d1-f00a-4df1-91e1-df3fa3f7c27c CLINVAR:102655 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e141b30-17b9-41bc-8558-45aefa6a5e1d CLINVAR:102506 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54f67082-e7f9-4168-a25f-6bb8250efb71 CLINVAR:102506 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba0e10fa-4d26-43bc-a6d7-024b7ac81f1c CA16020925 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c086e496-8b59-4899-ad06-e9ffc8ef36dc CA16020925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a191e44c-1bca-40dc-999f-8571f5552103 CA16020903 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5736b1d8-6574-4f40-8a1e-faf5fb7f083c CA16020903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83bcfc4f-bcd9-48e9-94b4-579294bfa295 CA16020911 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d356f17e-8731-4f50-a65b-0eedc65ad9f8 CA16020911 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a24328d2-f98c-4e36-88ea-ef64f0bb368e CLINVAR:102731 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aaac2cee-ab89-4778-8a4a-b6c155b44ddc CLINVAR:102731 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d540ef72-8eb0-4ba9-98a5-de55e918ad7a CLINVAR:102901 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6423ee9-e4cd-4394-8284-67d6c67d79d9 CLINVAR:102901 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20a6558c-f083-485c-b13f-b9cad6cb718d CLINVAR:391813 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3d99f66-ffb1-4fb6-ba1e-9c3edfb5b3d3 CLINVAR:391813 biolink:is_sequence_variant_of HGNC:9829 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 174c3027-4858-439e-9cfc-95887bd7680e CLINVAR:40674 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b477567-b4e7-416f-9aff-2aeb38a46077 CLINVAR:40674 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba58d9cd-8b09-4a35-bc9b-94a3f83655d4 CLINVAR:180851 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da9a6be7-5606-4069-a4ca-721897ac71fe CLINVAR:180851 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bda777f2-6c1e-4c30-ae41-da81e6d67339 CLINVAR:561622 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0eec0411-795d-4d9c-a5e4-5c057e4dbe4b CLINVAR:561622 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff418305-e3a4-421b-95f8-daf5ae5afade CLINVAR:179760 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ea27bb0-da38-414f-8f1a-0527c4040578 CLINVAR:179760 biolink:is_sequence_variant_of HGNC:15454 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 499690e3-0ec2-4356-a921-6d0e7af737e7 CLINVAR:45368 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1825bde-ada8-49fd-ab0b-9aa93e75bdb8 CLINVAR:45368 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8631709-e918-4225-ba19-801c92335280 CLINVAR:48409 biolink:associated_with_increased_likelihood_of MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c62f105-e37f-41d1-8ce7-3c0a880d1e34 CLINVAR:48409 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b91dda6e-0581-4e03-a239-f83b49999c31 CLINVAR:449490 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60bafe71-8c4c-41b7-a6d2-0b0056b8c2df CLINVAR:449490 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fbe16c7-35b7-4f97-ad64-521fe088bf07 CLINVAR:178937 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d90c6d0-d827-44db-aa19-8679dd0dd4f9 CLINVAR:178937 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f12e0f5-266a-4a71-a0a5-46a27651d7b3 CLINVAR:102504 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f2dd4bb-c19a-4bb4-be65-513c65da0716 CLINVAR:102504 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2fe0c16-b463-4f99-b1ba-c454d82953cc CA16020988 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65f85c80-e844-4256-ad88-3df6a7809d44 CA16020988 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bbeaded-e57f-4d8b-9241-5f3165d37a94 CLINVAR:427615 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d5d1a93-16d4-44c3-ba97-df2ca957f7df CLINVAR:427615 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a37b06fa-ad26-4d50-aaca-80e1d70944c0 CLINVAR:498538 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0b82825-ae64-4d7d-a708-70ecdf762ea9 CLINVAR:498538 biolink:is_sequence_variant_of HGNC:11720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72340687-566f-4778-9e08-5166ff8eb511 CLINVAR:561238 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b59dd579-083a-44b9-9ff2-149e95c43bbe CLINVAR:561238 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fb35cc0-5a69-4d38-ba8f-20d5d380d6b1 CLINVAR:561254 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8c561e8-a110-44f6-82fa-ad468733d9a5 CLINVAR:561254 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8196d6d3-693b-45f1-bb8a-460bc5368a80 CLINVAR:633606 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79a13c46-d10b-4b28-bf57-4ab4d6af1249 CLINVAR:633606 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d3aab8e-1d60-483b-91e4-7ca62c2e0fc5 CLINVAR:12365 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c685987-a21c-4480-86af-d23af48415cd CLINVAR:12365 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81ef0a6c-708a-43fc-9f6e-c08ea87a4043 CLINVAR:638853 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac6c2fae-32fe-401e-b391-8f40437ce2cb CLINVAR:638853 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 552910a0-1af7-4976-bb1a-ac12c25574ba CLINVAR:567576 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 832ad976-c52c-4623-b1b7-66ac2aa3f921 CLINVAR:567576 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef694027-0499-446e-96ec-ae4c15e8c4b1 CLINVAR:491536 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c01a6b6-f08d-4d6c-b7a2-162336ae1e52 CLINVAR:491536 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa922613-1a45-454a-ab1e-09d720298c93 CLINVAR:406631 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5403323f-2594-4755-b6b1-784cbade9acc CLINVAR:406631 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac42890e-d500-4578-a488-4ec010969448 CLINVAR:439045 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4801c968-4339-41b3-86b7-86f3ff9d6871 CLINVAR:439045 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20ecfced-3f09-4e0f-a3cd-d0de6da69b9c CLINVAR:496817 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0aa3f934-f378-4037-8c46-98de9e51f408 CLINVAR:496817 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e380d326-77d4-4e97-8bbe-2567a1abb992 CLINVAR:622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4848e43-10e4-4230-8928-c8e02ccb3d92 CLINVAR:622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf70951-5c23-466c-9cc1-b42d14a43419 CLINVAR:102834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d69c703-3b23-4893-a84d-d8d89c26c29b CLINVAR:102834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d41ea9e2-040d-4d4c-bd6b-b2d676e68c0a CLINVAR:370074 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53271fee-f9d9-4fec-a772-ef5b6d2bee56 CLINVAR:370074 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0faf4bb-1d43-41bb-8376-9085d955a98e CLINVAR:555797 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0004f737-6c25-4393-88dd-9f26e8819125 CLINVAR:555797 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b90b18b-ac55-437c-a423-5f513fc58dd3 CA16020996 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a836b2fb-f324-4948-9b01-fdb8d3ffeb5f CA16020996 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c318f8a-94d4-44ec-8f00-77926bfcd9da CA16020997 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05e62e4e-cfb3-4c56-847c-e82e0763e52c CA16020997 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b14ef992-a189-4adb-8a86-8ec6f4339d3b CA16020991 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a250342f-bc06-41ce-99a4-034f96d3524c CA16020991 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcbafe63-a73d-46d1-973d-7f49da5938ea CLINVAR:578 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a1f045e-b4c0-451e-84e4-230347640b22 CLINVAR:578 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a567bf-9ba4-4ba5-b75f-be2dd1b165f6 CLINVAR:102609 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e789636-8083-428c-9d66-2a2c0ecf2b89 CLINVAR:102609 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57496032-6515-4485-8a98-c0cdc5653b18 CLINVAR:102846 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eda58448-56c2-409b-b543-78819003f43b CLINVAR:102846 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d88305dd-c324-4651-aa6b-58e6ab2fc6d0 CLINVAR:805828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8b49deb-20b4-4fe7-8bf0-7036d57d2ec5 CLINVAR:805828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d042404-b6f4-4c65-a6b2-5385a27dfc09 CLINVAR:188771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ee4825ff-3dd3-4295-a749-b15fa1505d9d CLINVAR:188771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9931201d-8a2d-4971-8ede-4efedfeb87ee CA16020909 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c194b320-f6d4-419a-8f5d-89ad495d2ed0 CA16020909 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f395515b-38c6-4d42-a72c-1439cf2c4268 CLINVAR:842394 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e55da137-11b5-4846-95e6-49680e16c896 CLINVAR:842394 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51cc7469-d9ca-4a56-95bb-02fb41852d2e CLINVAR:635216 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8279ed50-aa47-45e4-b3aa-ef6aa60b6e1d CLINVAR:635216 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 574dcabf-e111-46d2-a57c-b936c7b56710 CLINVAR:102642 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b3e72a8-82bf-476b-ab67-144fd1e2bd47 CLINVAR:102642 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca75428c-457c-460d-bc52-b8377b9ec3c3 CLINVAR:120298 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34d02833-93e3-46ef-8339-3bdae62e76f9 CLINVAR:120298 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b010f2ee-1a97-44f5-8b9f-10e417a72025 CA16020910 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c1ca78b-77d0-450c-933b-575df651f5fa CA16020910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f27d6a-f18c-475f-80aa-b1e42640783f CLINVAR:805827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48ade5b4-a3c2-423e-bf42-4ff509acf6b6 CLINVAR:805827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3bb3499-8efd-43ff-85bc-cbebd8a893c3 CLINVAR:102671 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2a4bcdf-5003-4f0e-bd71-cbba330f8294 CLINVAR:102671 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3202acf-df9b-4813-a9a6-5a436bcbd37e CLINVAR:120272 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea51f54d-581a-4a5e-837e-0310b4b08ab0 CLINVAR:120272 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 520df617-255d-4b38-8ac6-ab40790e4e80 CLINVAR:372656 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5e462414-0ec2-4a86-a063-7700949cd222 CLINVAR:372656 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aac2d07-88c5-4cea-9898-b6abe946349c CLINVAR:40681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5d5190a-3226-4566-b3c5-665cd080ed50 CLINVAR:40681 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15995084-7594-48e2-bb72-bc18b9054bdc CLINVAR:12872 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 874361a5-9b9d-4e67-86ac-8e6d2b6a572c CLINVAR:12872 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4417d63-5d26-4d43-b8f6-a71c885363ce CLINVAR:40684 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fcc50cfa-28c0-4520-8199-1c235c1386e0 CLINVAR:40684 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0193fb1-b2b0-481b-bf16-6b5594146f54 CLINVAR:40682 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9637b410-0063-432f-a159-678726a7b390 CLINVAR:40682 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4097d171-b598-4d3d-b383-432fc4a1107a CLINVAR:40683 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c8fc632-b566-4428-8d1d-f6a8ecee283a CLINVAR:40683 biolink:is_sequence_variant_of HGNC:11187 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae1f5185-6f77-4ac6-aa6d-4cf1aadb2e45 CLINVAR:189041 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b9852a2-e53a-4c6b-9363-eb811f37e63d CLINVAR:189041 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4aad114-8bf9-460d-9073-96ac3fe31c0c CLINVAR:167113 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4ef4d7a-e05e-416d-b6c0-1ccc3cb5fc0d CLINVAR:167113 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717ff52c-4bbb-4e00-98fc-4f5263ecbbfe CLINVAR:127823 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db82322d-b57a-46b6-a770-6ec757c62a17 CLINVAR:127823 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2dd123b5-bc47-4995-9a23-0e541a6bf15a CLINVAR:230764 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 538cf123-3af8-46e7-b2fe-9e377b23236a CLINVAR:230764 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b81878b5-ac9e-4c40-90bb-59190220f803 CLINVAR:245851 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aef1c47d-99d7-425c-af6b-4a382cbec0e1 CLINVAR:245851 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c434c7-9e9b-47c2-ae41-a75dac746f19 CLINVAR:246429 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fca06201-44ed-498e-9676-5cdda7a3dd28 CLINVAR:246429 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d645081-d9ce-42ff-b5a1-23307f273c71 CLINVAR:376624 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34477624-e0b7-4f17-b437-49ffa6c04a07 CLINVAR:376624 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59e7e859-058e-4d31-aa6d-66d5b28bfa44 CA16020955 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4aa1bcd6-c4e4-404e-9177-0dcb5a24e8f4 CA16020955 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f40338-7497-4768-bda9-e3e64fcdcc28 CLINVAR:4842 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 771a594e-e578-4ae0-a199-b052affd666f CLINVAR:4842 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08c4927f-8f16-43b0-8359-d181501fb5fc CLINVAR:102918 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b44e3826-4dd7-40ae-bf7a-cfb8f080161e CLINVAR:102918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 447de8ba-8bfa-4038-9999-8779ee1cd1c3 CLINVAR:102566 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a32c5973-01e4-4092-9d77-ae694248d3d6 CLINVAR:102566 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a9a16f7-c0b1-43b0-b4fa-4ff082148dd8 CLINVAR:987756 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29c16c95-b3be-41a1-ba87-41982b401893 CLINVAR:987756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a2386e-133c-4159-b241-c0f6615535b4 CLINVAR:987755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a9c8cb2-207e-43c0-b746-d034128120d3 CLINVAR:987755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64e1bf8d-ed60-44be-8579-a06ba0f24a47 CLINVAR:102544 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc0d8187-0372-4f2d-bed3-0ed8670e67da CLINVAR:102544 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31765e59-a9dd-46c3-8ed8-61022de13c5a CLINVAR:141228 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fb3bfbb-4b22-4a65-9723-187b215d0df2 CLINVAR:141228 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed36e185-f558-408b-8f05-dab7c2c3807c CLINVAR:141159 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0dd46490-1dc8-4a59-96c9-20f959b7446f CLINVAR:141159 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 396b3ab9-87d7-48ee-98e3-13fb25c47bef CLINVAR:102560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa5d361f-2079-4108-9a01-ac291f0ae204 CLINVAR:102560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d7fa464-9dba-498c-862f-15ca474cb68b CLINVAR:102550 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 62db73c8-8333-4963-9a09-b3dd78afd826 CLINVAR:102550 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e7965cb-8701-4f30-b792-526efd1595f4 CLINVAR:987910 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 267fb52d-7f40-443d-87e3-33a760e78267 CLINVAR:987910 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f8657aa-50b9-44c6-a435-04c2dfd13893 CLINVAR:102714 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 895abb84-2faa-4563-a156-839b53f08983 CLINVAR:102714 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e2ffb3c-18b6-4f21-bd38-1730ce903d34 CA16020875 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4697075-9455-4736-8134-12b54a0a6a49 CA16020875 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8604a1a-146b-40fa-8abd-230d48848832 CLINVAR:574672 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1283198-8fae-402c-ba6d-c8073b2a3d2d CLINVAR:574672 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51fd463b-45f8-4d0d-a771-f0c4d9845fad CLINVAR:428622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2909959f-26b0-4a2a-b5b7-c8c9a4e5e77f CLINVAR:428622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ec58f97-d788-4077-8022-cf37cf336a60 CLINVAR:265635 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f46f4ef-5a04-47ed-92c3-74ef94dd8345 CLINVAR:265635 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c4f76b3-bea1-48bd-a6fa-eb39419e0251 CLINVAR:439040 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 464f0b1a-241f-41aa-b2e9-91faa0172e60 CLINVAR:439040 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89849ae-5792-4b69-9562-ec5e046366f4 CLINVAR:428633 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78dc484e-9165-4d47-a085-f52706798add CLINVAR:428633 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be39d4a1-9344-46e9-917f-436a21cf3f3a CLINVAR:491497 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c5a62b4-e9f1-4f62-885d-61dcdfada605 CLINVAR:491497 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c722d8cc-140f-4d6f-abc2-b37d450dd6d3 CLINVAR:422539 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a6bfae5-9db2-412e-8123-9ca0047e46cc CLINVAR:422539 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e90c7f52-cba7-4a86-9dbc-c31d7200af7f CLINVAR:449339 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 554bab3d-108a-4e76-8cc8-3fc5005ae073 CLINVAR:449339 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f9d5159-5f1d-43db-a886-3c57d935e5b1 CLINVAR:545756 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c757b6c3-4391-4064-ba54-442e1c9a940d CLINVAR:545756 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 693733bd-e05c-4a12-8902-ac8cd33cac0d CLINVAR:234610 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6b50ea9-089a-4bba-ae65-2c1e47068438 CLINVAR:234610 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1865661-fe60-4e4f-a683-902c62101750 CLINVAR:532477 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74ef3f37-06c5-4341-b3a3-c4d3822bf9c8 CLINVAR:532477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8db136e-7c47-427a-9c35-84f2bda2f62f CLINVAR:182376 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa32cc1d-1260-4276-9d9f-fea92539fa9d CLINVAR:182376 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1dc7dfc-9682-4f19-9d66-05ccb6a573a5 CLINVAR:185252 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9fefb09-3c70-4d85-ba2e-a53e974825da CLINVAR:185252 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27916c11-66d8-4c0b-bb9b-9d4b2720a692 CLINVAR:140781 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0bff8b56-d9ce-475d-b86b-b5ec05553098 CLINVAR:140781 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb2a363-cc99-49d7-b90e-78dc47654470 CLINVAR:420613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f53daf2-2ede-4d69-a70b-e37128bcb5a9 CLINVAR:420613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 121dafbc-be39-4486-8e3c-b6e7355aebde CLINVAR:532441 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a00a3254-89df-4588-bea4-895855b013d7 CLINVAR:532441 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b88a63f9-1c85-49d3-ae03-ed261e66fd3d CLINVAR:406676 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d335e2b6-9558-4c70-b533-a5b0e5b124b1 CLINVAR:406676 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53603b11-9ace-4827-9cb8-d79c1488ca8b CLINVAR:428624 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c789fb81-90bc-48ba-9ea2-bae61fe42ad9 CLINVAR:428624 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcbdff71-7135-40ea-8f19-f674d847b58f CLINVAR:496818 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d9b23a4-6348-4e47-b48b-02e7677d0d01 CLINVAR:496818 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d363ce7e-8e9a-45a4-bb72-09411d07aa5b CLINVAR:421050 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 274d36f0-fbdc-40ab-aee4-e96571844feb CLINVAR:421050 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d39b796-a4e7-46c1-9c6c-810eca5d90bc CLINVAR:485476 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9bb6a85b-e993-4b20-8445-0cd2a78a5434 CLINVAR:485476 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49eebcec-617b-4657-9aa7-fc9d8c1d9a17 CLINVAR:234812 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35a8021a-1385-4010-a333-7a6f6d6591fa CLINVAR:234812 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37265da2-42c8-4882-8a02-a9d21a4ed56c CLINVAR:230175 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07ecb063-6a57-4a85-b3e4-dc2678926716 CLINVAR:230175 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02df10b3-2c38-4268-83e8-ea524a9c3ca3 CLINVAR:488647 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8d40e26-6fc3-4fca-8b6c-9c26962b87bb CLINVAR:488647 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f89941a-b91b-4f3a-9d63-4892f3047e8d CLINVAR:406615 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5595bebb-ad3c-4c4b-b058-a5036431ffa9 CLINVAR:406615 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 366f098d-18ec-44f1-9efa-cfefd8f41bd9 CLINVAR:481173 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91f3779a-e53c-4249-8b34-4a98bab5f115 CLINVAR:481173 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91eed0dd-eb99-431c-97bc-b88cdd42b0c0 CLINVAR:234904 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88a2d796-4b7b-4e62-95a5-b8511e706d12 CLINVAR:234904 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 663b9ca0-2240-4bd1-9409-e63e1e41d658 CLINVAR:981224 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad9974b0-5029-451f-9c79-30e93d55e00b CLINVAR:981224 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b5b175a-f74b-4226-bd4d-f81eaa579228 CLINVAR:46076 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ee8c6f1-2e3b-4783-9a38-f99c19795206 CLINVAR:46076 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58c13469-65ba-48b0-a67a-caa23f1cca49 CLINVAR:102669 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d92201a-1383-47b0-82c4-386d54a26431 CLINVAR:102669 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4fabdfc-20b3-4051-a81a-7967ebccd422 CLINVAR:554011 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a5987931-6489-463c-bd39-e0d968b2ec05 CLINVAR:554011 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f6b617d-4fc3-44a2-9f4f-80a9add4f8b4 CLINVAR:102724 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1a55e4a-c935-438f-86c0-9560f82fd164 CLINVAR:102724 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba96dfaa-6c76-46c2-9111-0a626470fdea CA386299637 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14e96685-ecdd-4d48-903e-5408d5a7cda6 CA386299637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b549d8e9-44d0-460d-89ef-fce50192b791 CA386295265 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cced67e6-50b3-4a93-98a9-1b208bc371ab CA386295265 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eba581e-a614-4b80-8c0d-eeeb309f2cdb CA1139532470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9abe5d47-6a0a-4f65-b82b-3318da1c3ca3 CA1139532470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e83c565f-d07c-42b9-b142-f7380c4bd3f4 CA16020841 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 28c2c7c7-43f3-4483-a44d-d4c0060ff993 CA16020841 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e02a5b-9cd5-4007-a543-20ecfa3af544 CA16020766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05c67998-7fbc-44f5-95b2-bf691f6a42d0 CA16020766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf84f3ca-f2e9-4708-a26d-b1f5e7d29c7e CLINVAR:102733 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca4a7221-4d5e-4038-b969-191f2a667f2b CLINVAR:102733 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29cde1b6-a781-4ddb-aabc-87618d0c7687 CA16020829 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8842b468-de93-4df7-a9cd-e71e6f5a18fa CA16020829 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65db1860-c504-4272-864b-532ac16afb4a CLINVAR:102556 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 228837b0-30ee-4476-9c25-eda84d6baf5d CLINVAR:102556 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a2a4e9d-f942-463c-a10a-f08c73966801 CA16020787 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6587fc4f-218d-47b4-8865-8d6d0da61d27 CA16020787 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a094033-73ac-43cd-b088-b362118872b2 CLINVAR:92730 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a2b5a1c-b8c1-412c-81ce-4554bac6abb8 CLINVAR:92730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 770aa315-6243-44e4-91d1-a828ee41e22c CA386304277 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3687d01f-165d-4223-aa0c-c7dfae7169aa CA386304277 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f31dcf3d-07fc-49f5-97a8-8f94c79cd41d CA386295865 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8562413c-e9bd-4b17-b00c-baa8cb3db3c7 CA386295865 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24058600-6e33-4da3-ac45-9df34cef6b13 CA6748922 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccbbda59-4272-4057-b3a1-30fe07b2dd89 CA6748922 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6793a517-0c1b-43a7-8db4-40bf4d6707ec CA1139532533 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb44a326-307c-4d74-8899-d440d1aa6ecc CA1139532533 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b24c84bc-b62a-4f2a-8dff-c0daa7991d51 CA16020961 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 345ba6ad-fa54-40ad-bc8c-990c795299ce CA16020961 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8678db47-986a-4626-8f73-d9a220a39ef3 CA1139532543 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c47078a-24e4-4687-a8b5-92e45430fabd CA1139532543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31350f10-e842-4cf8-9c23-23a7307e65e9 CLINVAR:102541 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1fba983-8b51-4e4c-8415-cadb5f94631e CLINVAR:102541 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4dc791e-cddc-4790-ac70-2609b72b2089 CLINVAR:458082 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a99d36a7-48e7-4487-8daf-8cb0e96f3cea CLINVAR:458082 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba434b0-fb2b-4110-b2a1-0bedbd30f0b3 CA386304179 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d1232b85-768d-446b-b19c-a5755653f627 CA386304179 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d9220a9-ab46-4bef-a86f-eb2513078789 CA1139532534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25bca236-a90d-4ddf-9100-184ed3e9800d CA1139532534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d75088d6-d894-4fc3-b019-4150543bb76c CA481332664 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7b5381e-acef-4f4f-ad1b-811bef2ba3a0 CA481332664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f986d0c6-598d-4ec1-b3ed-6ff78582a3dc CA481333203 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 536a21df-aed5-42d5-be21-f34721231283 CA481333203 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1e9110b-afaf-4b6d-a42a-af60529f918a CLINVAR:571388 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 866583a5-057b-4e8f-91e9-c2717ffb70ea CLINVAR:571388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 587beead-1842-4407-99ee-b1c62b1cb722 CLINVAR:552279 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 797e09a5-cdf6-4999-8e05-ec1c2f4dad83 CLINVAR:552279 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed0fa34e-af39-4d2e-b4ed-756e3eb5113c CA1139532590 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d21143ad-0b6f-4e33-bcbf-ab00abe124f0 CA1139532590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 251041d8-8f8d-44be-abad-72778710c44b CLINVAR:631 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92face39-0f82-40db-a2ce-99ada265436b CLINVAR:631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385855bc-f461-4737-a244-74afe8514639 CLINVAR:555138 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 645a8d98-74cd-4a56-8fd2-d2c2c176cf82 CLINVAR:555138 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cbf010f-0e37-45ae-8dbe-8f7d5d3e37f9 CLINVAR:102638 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 516a69fe-dc52-45c4-97b2-47cf647ca89a CLINVAR:102638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b0fd256-eb53-4641-bb17-60f408c9fd3f CLINVAR:102756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62805442-18e0-4dd7-a619-4c0c576edaf9 CLINVAR:102756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 224959d2-81ca-4c18-86aa-e0b419135d41 CLINVAR:102800 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa83e7ac-e23c-4da9-a13f-34b28cf751dd CLINVAR:102800 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fa22e42-bd65-4d7e-93d5-68c7cc18aef9 CLINVAR:102796 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3eff956c-63cf-4981-ad7d-1077c5e949ef CLINVAR:102796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 606bddad-2425-46f1-b281-938379e827de CA16020786 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a0f929e-72b2-447e-afcb-acf4ac7b0243 CA16020786 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7829b212-c48c-46fd-a95a-cf5f00c8e53e CLINVAR:551658 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec8c3112-e35a-472e-8d6e-c27572e4b325 CLINVAR:551658 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9395c732-e0be-465a-90b2-0a7b19207093 CLINVAR:987913 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 57a314ec-15cc-4011-adb5-f2cfc4f59938 CLINVAR:987913 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ac9abcf-cd6a-46af-b397-051c3c010f36 CLINVAR:102543 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee7f484c-bc92-4eda-9f3c-fed8db0ace02 CLINVAR:102543 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3045065-9a7f-49f8-b042-d7f2d04a3e0c CLINVAR:102542 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6797b475-1313-4c12-b357-e14a48e65812 CLINVAR:102542 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcc79bc5-c5d1-4423-86bf-d7e7822a5b83 CLINVAR:102530 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa193c70-74dc-4005-b501-80b67cb13160 CLINVAR:102530 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab96875c-5780-455a-8d41-a924c588a2b6 CLINVAR:102621 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 253c20a1-1ead-4b2a-8d26-d338bcfb524c CLINVAR:102621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f0539c-23f6-4c23-91d3-94408d0a9146 CLINVAR:102489 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e48350c2-6faf-4bca-a23a-8be6700d137c CLINVAR:102489 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f986cf-e1e4-44dc-b75b-42a7b172fcc9 CLINVAR:102734 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ffcf432-7944-4cc1-85e5-f7859499b735 CLINVAR:102734 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64957850-e534-45dc-9103-45653fef6088 CA16020815 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3ce3a72-27e1-41f1-85f0-129d057002fd CA16020815 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a7eda3c-782f-4d85-bdb7-d0d6f03961d4 CLINVAR:102741 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b93c7bc8-92b3-4dbe-9ac0-395456074105 CLINVAR:102741 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8544c648-8f2f-4357-a552-20c0b9b9a8fc CA16020821 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9a8b2c7-b987-4da7-acd6-210a537e75d7 CA16020821 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 971ccdbb-fd2e-4b94-9555-db7fc6fde395 CLINVAR:102769 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f038791b-b5cc-439f-8f94-8668229a429d CLINVAR:102769 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47af47f0-e25b-4cef-b8a5-79313bc98281 CA16020838 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 013e156e-fab4-4656-bf2e-129e6f8f1c79 CA16020838 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08db194d-9c42-4af0-ab56-7b53a09348d2 CLINVAR:4929 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9e7fd60-83b1-400c-9c51-7e5c8ab15c75 CLINVAR:4929 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b921a8c9-5a1c-40b4-8662-3af7cbc4b763 CLINVAR:43230 biolink:causes MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cd48fc6-9e76-4982-b821-6e96c62aaeee CLINVAR:43230 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a83247bd-7205-4e0b-b831-e998d38846b9 CLINVAR:984798 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aee5dfd1-8921-4596-a545-173f509c69b1 CLINVAR:984798 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d72c01fd-c7d8-40cc-85af-90024049d49d CLINVAR:984802 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5926983-e856-4e0d-96be-339675cc9110 CLINVAR:984802 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c489717-ca6d-477b-a663-d5476865a71f CA658795253 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19813b41-6c5c-4490-8e2c-f81e2576a43f CA658795253 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0f71a40-22df-4477-aea1-9c2e759f39c5 CLINVAR:557360 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7af5013e-a54f-479c-90ff-461e9fdd34c9 CLINVAR:557360 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b86f488-d845-4d27-be5d-878dbadbf2e8 CLINVAR:984800 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6060d2b6-8e07-4edf-836f-2542a159ba5f CLINVAR:984800 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ad88114-a7ff-4abe-9302-aa6892615441 CLINVAR:371302 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 178a901b-87db-44a8-a7d7-adcaa3278f53 CLINVAR:371302 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b69d73ec-9af6-4496-b120-8819bb16f211 CA401363371 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5012060a-3439-40e8-a98c-ee402641edcf CA401363371 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbbcb565-b9bc-4918-b5e5-a7b15de551df CLINVAR:972762 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 976d5667-4b85-4af7-b235-15b60b059ab3 CLINVAR:972762 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daefd1bb-4938-411b-9602-078ff376fca7 CLINVAR:552839 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2d1d2ac-777d-45aa-b333-ae0aa0392546 CLINVAR:552839 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eea506cd-4ea3-4614-ae0b-9e3b1cf799de CLINVAR:423925 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af9d1b8c-357a-4aa2-b035-d1edc0a4a7bd CLINVAR:423925 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb79e899-b735-4ee9-950d-a37724ed454f CLINVAR:370241 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83f275ff-b307-45ea-8da5-ed93ebb71569 CLINVAR:370241 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86c11ddc-e26a-4ff1-a72d-01257bece331 CLINVAR:456415 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e53b356-10c5-4ffe-abe4-b0ee026b13aa CLINVAR:456415 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd50e129-a304-42ad-82ce-9a6041316003 CLINVAR:555040 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25e27414-a214-4c8e-9460-6a7c5381af7b CLINVAR:555040 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 873fe833-afb4-4262-b5b1-c68e7757b182 CLINVAR:370458 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 387462be-54bf-4733-b6de-9e6720fd5dae CLINVAR:370458 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db15318-9447-49f2-a9e5-64de8e674341 CLINVAR:526523 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 82fea460-8881-466b-b9dc-2cb276ebb2a0 CLINVAR:526523 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 610df0db-61f7-40b8-8f03-8234c4a9ce27 CLINVAR:371580 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0547e6a4-4b9a-4e31-ab97-21f7b275e4ab CLINVAR:371580 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f81bb4ee-1f4b-4b0f-bbc5-2cb0ee2cca16 CLINVAR:551530 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a62a000-7dd5-4441-a14e-5cd445b48c19 CLINVAR:551530 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e41e201d-df0b-49c6-871f-7d17e7790866 CLINVAR:371501 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 962f4eb9-bdbc-47ed-90fe-fc3dabedc9ef CLINVAR:371501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a96cf551-0e2b-42c0-ae88-3e41b93f6f93 CLINVAR:596146 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7d4e272-3e02-4d17-a5cf-44e01ff0e509 CLINVAR:596146 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9722158a-059b-468a-ad48-a555e33a1c1f CLINVAR:189057 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e7c49ec-5855-4e22-8337-af38e559ac57 CLINVAR:189057 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 959cc772-8b95-4c7f-9231-ed8673f3f8b2 CLINVAR:553981 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97e63af7-025b-4714-b57f-3e4c3520ae5b CLINVAR:553981 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4aa004e-449d-477a-84ca-ed941489b476 CLINVAR:550104 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ddbaaa2-a599-4e73-a090-e4a51954becf CLINVAR:550104 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83cc7015-a07a-4986-9bfa-ca699bda2f4c CLINVAR:188880 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f0e0ec9-e04a-487f-9448-10c7d6546f07 CLINVAR:188880 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40418355-b02d-46f7-a158-fb6301b15022 CLINVAR:556534 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03f74448-586f-4f0f-abc4-cde688297dc6 CLINVAR:556534 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4539c267-4c37-498d-a994-bb64e6aa3c11 CLINVAR:656144 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 126190de-a69c-46ce-a1b4-305a324e7916 CLINVAR:656144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74130489-0d8f-4692-80ad-c4cc1ded1573 CLINVAR:282254 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 732a8a5c-e38a-4307-9210-e1112bdd595f CLINVAR:282254 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9cf4236-0f49-4e77-bb33-4d2d72624a46 CLINVAR:597147 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a4c83ee-2b95-4429-b634-6569599a48a7 CLINVAR:597147 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe98b426-c6b8-4e62-a873-666b926bd22c CLINVAR:370810 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9bfa21c-49b1-4f37-ba9d-64f4a055e8f8 CLINVAR:370810 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce4b22ae-e5b1-4304-9f07-94f91f749b9c CLINVAR:497032 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6daefd3b-3246-495b-8eb2-6e1d388ada4e CLINVAR:497032 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d47e296-7ced-4114-a6ae-d2f115430b9a CLINVAR:370263 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 872e79e3-680d-4b00-b7d1-6aa0713f1c57 CLINVAR:370263 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e03f1794-7b65-45f2-ac26-68b23a43c8d1 CLINVAR:501294 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa5b8ffb-adef-440b-8412-64760544be50 CLINVAR:501294 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 590c436f-df46-4b5c-acf6-09ad6e0bb258 CLINVAR:4033 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 418f3d3e-6155-4157-9ca4-ef8d3813edd5 CLINVAR:4033 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b80648d-c9d3-4fa4-a43a-4fc61a238037 CLINVAR:370510 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e00997e-5763-4ad9-b300-814e7fc8c33f CLINVAR:370510 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ef999b-f106-4791-b2c3-799bcd83d269 CLINVAR:371457 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5171cd85-d5b3-4605-8e25-92ac1acd677a CLINVAR:371457 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2c13efa-d6ea-45ea-a12d-8399f0af798f CLINVAR:552165 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23310739-7d64-4391-8476-b1e5d974c012 CLINVAR:552165 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f538a250-0dd7-4e85-95c4-a60b2b92f858 CLINVAR:420101 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf17a2f1-3b02-46dd-b7db-c784cefca139 CLINVAR:420101 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e1ea432-cc32-4c73-80a0-f87ab249847f CLINVAR:556959 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4671192-dc7f-4f55-b8cc-2eccf145ec9d CLINVAR:556959 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a8a2c24-022e-45f4-a34a-c239589b4762 CLINVAR:370223 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce01e6c0-d389-470d-ba4d-9524ea643e84 CLINVAR:370223 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18924ca1-df04-4598-85fd-c45717c85ec2 CLINVAR:556853 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c3e5db8-2d57-44b5-88d0-168e6aa240b4 CLINVAR:556853 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93110ed0-39ca-48e1-b0ed-5945bbd3c38f CLINVAR:188874 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a4cd781-5560-4b14-b766-c35e424bb29e CLINVAR:188874 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ad0ac5-27bb-4ac1-88ba-3f31c0fda46a CLINVAR:694453 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2bc0cb25-f618-4159-b436-66aaca75709b CLINVAR:694453 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4296cfff-2a56-421e-92ff-d065d23a2f14 CLINVAR:371433 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7422222-c055-485b-884c-d211183356f8 CLINVAR:371433 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90c2a4dd-6f4f-4a84-b6a2-bc0db529e54d CLINVAR:520974 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3970ef7e-3187-4a4f-bd07-99b828116481 CLINVAR:520974 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd38cd84-1bcd-4355-9cca-2c541c6fbaf1 CLINVAR:370866 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7cb0f52f-3698-4601-92ce-e2198f8a7fff CLINVAR:370866 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53c29396-7ea9-401c-b104-7da3d405d65a CLINVAR:693996 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99beaf47-3a37-4356-96a2-166289259896 CLINVAR:693996 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d48d09e-b33b-47ff-8eb0-44ad7488e43c CLINVAR:632822 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 681253d7-7ef0-4846-a599-2cf4f8bfe76b CLINVAR:632822 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ac4a402-710b-4961-af77-48abf3c33f37 CLINVAR:633225 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2fa8be28-5d48-4e0f-a798-a6004eec4dbf CLINVAR:633225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c934c482-728f-4d90-9fbf-5677d9cd11a0 CLINVAR:423932 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37274952-1f62-46d0-ad4b-e887b1069026 CLINVAR:423932 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 943bfd58-970d-4b61-ac42-95b76a21c707 CLINVAR:802700 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c681a1d-78d0-4b8a-939e-4b53fd758595 CLINVAR:802700 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11cc8247-605d-46fe-950d-c223a95d609e CLINVAR:179260 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e263f395-4883-4e5f-90ca-cf6a1cd06819 CLINVAR:179260 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09125a91-8918-46e8-9005-a4448e18d478 CA1139533052 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 808e4720-b5c1-4fff-bce9-0ecd7bc120fa CA1139533052 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 000b06ab-b503-4b2c-9032-4049cdc8a27b CLINVAR:561252 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57468fef-5a12-479f-a076-5ef8182adb54 CLINVAR:561252 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3bbed55-eaac-424b-a716-0f841a8eb94c CLINVAR:561236 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e8dff11d-0976-4efa-9186-2f3b5039c3f6 CLINVAR:561236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc515ac8-22e8-48f3-adb4-e3e4c9d5199a CLINVAR:561256 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00e32005-102d-4412-840c-70c47477c1ad CLINVAR:561256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c104a76-feaa-4782-bb84-60f66834c840 CLINVAR:561248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c127ee07-df53-4578-8690-f9331c876cfb CLINVAR:561248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b51d6f6-5ed6-43aa-97a6-534faa2e516e CLINVAR:575051 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63459a73-f09a-4b33-985e-73190b1a7d59 CLINVAR:575051 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 139971d7-1773-45ca-94ea-bc9db5496087 CLINVAR:561223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d7069db-8e41-4c07-9314-941384a93161 CLINVAR:561223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bbacff5-c437-4d5a-8068-4f4f7f6b0d75 CLINVAR:376021 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4e19ebe-7421-4c68-ab39-1858d3b313dd CLINVAR:376021 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61dd0a4c-2fff-48cd-86e7-03c1b8159486 CLINVAR:464006 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a102e99a-69db-4a20-99d4-a7b5acd83b1c CLINVAR:464006 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce06d880-410a-4807-89ec-b502c1f059e4 CLINVAR:561229 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07d557ea-b1a5-4c6e-ba1b-4f1e8029cd12 CLINVAR:561229 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b55f40b2-2ff3-4cf9-b5c2-ec1bb4c68793 CLINVAR:561226 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c316c3c1-e66a-4510-b767-b2c3988b186d CLINVAR:561226 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8fa0a11-01e2-4000-8a67-a2164e379d5d CLINVAR:561224 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 341b2b54-44de-400c-831b-13e966343a7c CLINVAR:561224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3b54a9d-badf-4711-a207-852d174a0779 CLINVAR:376022 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 975bda9e-4f2f-4d1e-b115-7864367437f0 CLINVAR:376022 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b065d518-1bde-4310-967e-0b041f68b9c5 CLINVAR:376019 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb7a2190-b1a4-4bbf-a3d7-f8188775adc4 CLINVAR:376019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22fe4712-a05e-4f36-b77c-dc1d1167eedb CLINVAR:376020 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67db41b4-4d2b-4d55-b9e3-d32f83d9d368 CLINVAR:376020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbbaa1d5-391d-47ee-80f8-8b7117ca1f94 CLINVAR:561244 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05e97604-315e-4029-bac3-940ef4330250 CLINVAR:561244 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aa339e5-2d19-43ee-8de4-d5aacc042082 CA16020802 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 714e5739-f2da-4924-adb0-fe908683fb1d CA16020802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 898a5769-dfc3-4493-b309-664406583080 CA386296833 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a06480e-0e86-4210-9c01-6ff041d84300 CA386296833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13fa92f7-74ba-41ed-b98f-e7c97a282255 CA16021000 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76ab336d-1158-4f6c-95d9-ba63614f07d0 CA16021000 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0372a5e2-0c07-4c87-8ac5-7087b389cef0 CLINVAR:1065372 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 073e631b-fd39-4dce-9bee-9357d1134ae0 CLINVAR:1065372 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2461cd6-dd22-4df5-9b68-a9d9ef0a6393 CA16020989 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 290620bf-4e26-4f68-8958-c45097618afb CA16020989 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d1adac8-ded4-40ab-af8f-9e747459d5be CA16020933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b258ac23-e269-41f6-b3e0-f4fd4a62906a CA16020933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f32ebd1a-a605-49ac-ab52-512114cf9622 CA386299729 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bee98c5b-1e71-4474-bd32-02006cdc37fa CA386299729 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69c3430c-cb00-460c-a3aa-f7dc45e01a99 CA386294521 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 876929c9-e611-4d6e-ab7c-b4f6c531bc47 CA386294521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50fa06bf-248b-454b-959e-c8b91c8494c1 CLINVAR:225134 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8e395ea-85aa-4637-a8eb-d587ebf96a5a CLINVAR:225134 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0331c36-237d-4afd-9f93-978c15cfed78 CA386296582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc3f2bcf-d553-4b5b-b90c-fd74aba9fddc CA386296582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3293693-aa90-4d13-b767-d5cf38392213 CLINVAR:1065380 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30529852-1905-4435-a811-54c577515df5 CLINVAR:1065380 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebc8becb-3980-4d18-b770-6f2b48300af4 CA378924686 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e55ab607-a615-4d27-8968-8f833fdcce3e CA378924686 biolink:is_sequence_variant_of HGNC:5173 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad78fc7e-828e-4196-8e36-461aaa10ab91 CA399806384 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f84a121-bffe-4857-98bc-43e0136ce3ce CA399806384 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f38a6c1-25a9-4301-bbc7-40732e599f3d CA291224483 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cea9ffe6-6251-4490-be23-0e9c09c01f79 CA291224483 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c946d707-0870-4420-bf85-b81e525e3f80 CLINVAR:323867 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1940df44-447c-4cba-b532-f1809eb3ec3f CLINVAR:323867 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b72747bc-297b-4707-b2cb-69412a6b4841 CLINVAR:631775 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c738094-5625-43de-83c9-9684a017fd27 CLINVAR:631775 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2af6c83-ba9f-47ad-9033-187f1e910645 CLINVAR:953020 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 892ce472-b536-4882-8c4d-0da344931d5c CLINVAR:953020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc35ab42-3165-4cae-91ba-766aaf00940b CLINVAR:953022 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52f05816-9063-4f16-9ef5-1155749587ea CLINVAR:953022 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e26c29-45c6-4d7c-a5fa-1140582b56b7 CLINVAR:426669 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f5356f0-35f5-48a9-a5c0-57b32fa943bf CLINVAR:426669 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94911a36-acd4-476e-82f3-be1aa9ad5c10 CLINVAR:953003 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f4f9d11-2c92-45fa-8f57-b4e4cf1dccab CLINVAR:953003 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e82f0d8-fb5e-439d-84d7-d12160101778 CLINVAR:417956 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a5aa7de-4319-4a7a-9aa7-2f1cccb7ec20 CLINVAR:417956 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9253b1b6-fce7-40a8-aa60-5b4273951d7c CLINVAR:953059 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 321749d0-21f0-43e3-8a71-f7aee7d8f2ed CLINVAR:953059 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5109fef3-fd63-4381-9466-1f442abea5e8 CA8623155 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f1c56da-acb1-4167-83a7-40b7628b2d82 CA8623155 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 203c1a48-11a0-408f-ad25-d881e89dae65 CLINVAR:695458 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1e7f020-92c3-434e-a89b-2322de136d16 CLINVAR:695458 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5012fc23-f5aa-422f-a44b-9659d4c74e30 CLINVAR:323870 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e72cc2f4-b01f-487b-96ac-050cb01594d2 CLINVAR:323870 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32e09319-7e90-4657-8c96-e9c77ca23a44 CA8602626 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7bb4b15-93ab-41bd-9189-36691d3f4fbe CA8602626 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f004e53-2e4a-45c2-ab7b-ede20bfface9 CLINVAR:2901 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 173eeba2-36dc-49ab-b4f7-6188a4f88f8e CLINVAR:2901 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66e8e978-e0ec-4c5f-b279-653886dd98d4 CLINVAR:225393 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ebd4f26-ffe9-4a5b-883b-7fcbae3fac00 CLINVAR:225393 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78ec16a8-e096-40fc-b59a-1582502ba13c CLINVAR:953015 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ecb7ca5-c049-4f8f-9117-0e6cc599b45e CLINVAR:953015 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de48aa1c-627a-439e-82c4-6d1a7ac4b3ba CA913189226 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 539386b7-4175-4138-b10f-dfaa5dc772c5 CA913189226 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03dd133-8c28-4b29-bbde-e2cdf649e6d5 CLINVAR:2892 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4c468378-4920-42b8-a22d-88e1930f9c9d CLINVAR:2892 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c5bf35c-a308-4229-9b88-a4fe9abe413a CLINVAR:953024 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59447d7d-80b3-4c12-81ca-158ea3533940 CLINVAR:953024 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bbef230-86fe-4be5-96ca-2fc3932d5632 CA8623377 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc20665a-3cff-48d8-8704-2bb4e6ec9657 CA8623377 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95c9c6a6-6aa8-4319-87b9-2e41191efac4 CLINVAR:953047 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 519a2963-10a6-487f-a516-330ec4ffb6bc CLINVAR:953047 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914f2cd4-ea05-4e79-8390-d3f0f41658ba CA399805421 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3a08358-8ed6-49c9-ae06-854bef986004 CA399805421 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a744cf-7e3f-4830-9189-65f0f6ef3042 CA399805793 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f6cc591-e257-4108-b455-c4e35f08683e CA399805793 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d656d368-7828-4134-a493-e0018090c5d1 CA913184940 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9499291f-afb4-48c6-8bca-bf4b91e87940 CA913184940 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f7085c-7628-4fdf-8639-c8a2fe5d1349 CA399802411 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 078fa94c-2792-4a3a-b90c-cb80115d6c07 CA399802411 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703dce1d-1a70-4f9f-9f4f-43d15e5d6201 CLINVAR:952999 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d78db90-9419-4819-9f63-8f191a8d93b6 CLINVAR:952999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03e06530-1ab4-432e-bf9e-d939b5e6988a CA658820875 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aa266adb-588e-452b-b139-1e801fd4551e CA658820875 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e635f0-9a4d-4be4-92b5-1d4a5be3cb78 CLINVAR:627066 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 45169590-3c50-4221-9008-a9d3f6c6db98 CLINVAR:627066 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c1adeb4-a038-422a-870e-6700f2b9a293 CA400031666 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d8489f2-7280-4502-9014-b7b40e4673fa CA400031666 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38de6704-2937-455e-aefb-d10a3cc6efe7 CLINVAR:13554 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 013ec265-67ee-4f59-b366-c93dd90cb222 CLINVAR:13554 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e18562ae-d1a7-42d2-81a7-5407ec05f7a9 CA290950376 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1c09a11-4e01-416b-b897-5c46a22a096c CA290950376 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 867ce983-f513-4fec-8daa-2ddf9c25d2fb CA399801310 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e29f84a-7b8d-44e1-941a-3cf9343e46df CA399801310 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd3b9c9-bf8a-454c-8fb4-be03a763ec28 CA399805557 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e4b9045-d2e1-4757-8ada-a79a22aeeb82 CA399805557 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 208abd0e-0c42-426e-83ff-80410c9f32ca CA8602528 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 388dc442-884d-4910-9ac6-8f575d1922e1 CA8602528 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1447ddf-c49a-4932-a300-9740a1237fd8 CLINVAR:953027 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2385b0e8-aaca-482d-8256-f4a48ad68afd CLINVAR:953027 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c1e5e3-5414-42d7-a107-55c5062a40f2 CLINVAR:953051 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 312b4c1b-cdf9-4000-a5f9-b565b4925fe9 CLINVAR:953051 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d3204e4-99b3-43a8-af44-faa70db5486c CA399804619 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51b6e67e-41c0-4d1d-b0f1-e954e58a7da4 CA399804619 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 268b0eb4-cc84-4db7-8c2d-013e6db0834e CA8623358 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eca0cb23-9e90-4443-b6aa-c2473ed3a57c CA8623358 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9707fc9f-88ad-40ef-a5ca-a545accd42cb CA400028478 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65dbffde-0cbf-4e02-b232-7fb93c6e3969 CA400028478 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5518a3e6-bf1d-42d5-87bf-61cb7890baeb CLINVAR:953040 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17332f74-cb6e-4e16-af23-7d3198dbe949 CLINVAR:953040 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c797caeb-1f2b-472c-a3a6-853928e270c5 CLINVAR:812736 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db18209f-b333-47bf-b64f-bdef422ae9fe CLINVAR:812736 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fd968cb-86ab-4cb3-b938-bc2646b847a6 CLINVAR:953052 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f45b453b-565c-46f2-92bf-b9e95413bb74 CLINVAR:953052 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c38d79-8ea5-47ad-bc97-4494616739dc CLINVAR:953053 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f1c47b27-6118-4a5e-bed1-e404db726503 CLINVAR:953053 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 111d3e9c-1f1a-4f17-93e4-fcb548281c9f CLINVAR:953007 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0a80a13-542c-4383-843a-16e304e73f08 CLINVAR:953007 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86cae372-62d8-4233-ab28-9452afb55ad7 CLINVAR:952996 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e029105-b830-493d-91bc-e0be1f062157 CLINVAR:952996 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f129a3a-359d-4331-af81-bc5f4cf18685 CLINVAR:2900 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15152f3e-fa50-4bbe-be13-35fe29302205 CLINVAR:569057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0ae7ad2-f58a-41c5-89dd-5149e9f218b5 CLINVAR:569057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1265cb4b-48ce-4e8b-b75a-618e17bb3b2a CLINVAR:953008 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03e65a7d-b1c5-4438-809f-d3452507ce6d CLINVAR:953008 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65ffb512-93c6-41be-8761-8f090a0e3888 CLINVAR:381747 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38afe530-b280-4ce9-8e20-e62dd87e5cfc CLINVAR:381747 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 076c0eb4-3100-4259-849a-8bca85060992 CA399802424 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5c6b95f-1ec9-4ffb-8ca9-c063143b6f54 CA399802424 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29a238ae-01f0-4c7f-bdb7-d03e77eb8a9f CA913189170 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78886cf5-d242-4803-85e1-ad48f6f97b92 CA913189170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bde39e55-63d8-4938-a95e-8bb5147f874c CLINVAR:953004 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen efb94629-d6cb-4241-ad9b-68e1d465ea89 CLINVAR:953004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2eb4bc1-13ae-4ab4-863b-90062d8fb02a CLINVAR:953001 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13e7f12b-8e75-437a-a9e3-c3327e122c0a CLINVAR:953001 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac26c534-f701-4f9d-996a-3aa274c6592c CLINVAR:953005 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac84f3a5-9fa8-4ec3-b9e1-d98d69604067 CLINVAR:953005 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2567d29-9565-49ed-9c09-048d3bb6960f CA8603457 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84b3506e-86b7-46ca-87b3-c83ad6c341f5 CA8603457 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8381afbb-c390-40fe-bcc4-5709a5c50159 CLINVAR:631774 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49a13fa7-784f-4a98-95aa-9a5da711875f CLINVAR:631774 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc3b9ed-48a5-44a3-ae78-5963bab18909 CLINVAR:953061 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4cc28b2b-9263-4cd2-b154-811d6677fe24 CLINVAR:953061 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 617a24c2-dcbc-46cf-9e1a-57d2f6d15cc1 CA8622899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1bf94dda-9212-4c6b-90fc-ac54450b282a CA8622899 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 435f0f80-5b4c-43b7-8138-d7c9cf5d804d CA400033055 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f73f9b7-5469-4fd3-8662-b3a9478be0b0 CA400033055 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23e38e76-7a36-495b-9404-893e98b1f9ee CLINVAR:953010 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b1689e41-d837-4b8f-aa91-9cd67a104017 CLINVAR:953010 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30cec8a0-d060-4a43-861e-30c10abb3f21 CLINVAR:953029 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 157c30f4-c360-415a-b7bf-d32b58771182 CLINVAR:953029 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fc3d161-aa91-4c4a-9e29-6e8f2a40ec28 CLINVAR:953018 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55054d05-b7d4-499d-ab80-78d1b05354d6 CLINVAR:953018 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce617ce9-d36f-4098-a6c6-cf101dc38c45 CLINVAR:996156 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f37ee357-25aa-4ea5-af37-2c23c01a41c5 CLINVAR:996156 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 889b931e-39ab-4fb5-9c9e-fab80702004f CLINVAR:2895 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c10ccdf1-9e04-4a9d-8258-5da3a08e1815 CLINVAR:2895 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e05cff4-cf81-4a2f-af8f-5cee30fdaec4 CLINVAR:996168 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c5aa073-5e3b-401c-b1be-c5026ce5ed61 CLINVAR:996168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56a62fe3-4a17-4ca2-a464-5d2f89a27703 CLINVAR:996169 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dbac9dd6-a3d5-47e2-a4d6-ee75c267e462 CLINVAR:996169 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc682fc6-d978-427c-b45c-0e033b32d398 CLINVAR:996170 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b12038fd-51a0-4861-a3d2-6fb407d59718 CLINVAR:996170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4cd2393-5116-44a2-b863-4f2eaf6b477a CLINVAR:996171 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 822a998f-4616-4db4-bb6c-aec52a1bf209 CLINVAR:996171 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42c8721c-32f9-476e-92bd-fb4cdbede4f1 CLINVAR:996184 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6376a9d7-1ffd-4f3f-a29f-7e3ab59576b2 CLINVAR:996184 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce28bf4-a635-46c8-b266-035f6b3ac2f9 CLINVAR:635 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9961520-47cb-4c1a-9d01-691e2d31921b CLINVAR:635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7c088e6-c5ab-4372-9e53-236bb1010bcd CLINVAR:638 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 126bb4d2-d152-4688-ba80-49b5e4919a49 CLINVAR:638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4328f407-9766-4731-82f4-e63c292918ae CLINVAR:928885 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90f1bf82-e68d-42cc-9dcd-3bab1b5f843c CLINVAR:928885 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cbc59e5-a895-4809-bfc5-64be79959b67 CLINVAR:552657 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8c63d0a-4425-450b-9eaa-abd7f6b042f7 CLINVAR:552657 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de6ca316-dd3b-4c30-9927-34750672b6da CLINVAR:551103 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a2be2c8-e1ba-494c-914d-573dd197d978 CLINVAR:551103 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9caa25e-81bb-4d75-a1ae-71649b39d4af CLINVAR:102602 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67fcce6b-e642-4da0-af2d-9f1715deca19 CLINVAR:102602 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fc6b763-fd04-4734-9d51-80ea9716159b CLINVAR:996175 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7841a865-94c3-4d15-8919-22441a0322ca CLINVAR:996175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aed2512-7ffd-4b1f-b6a1-779dfd3f6597 CLINVAR:627218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85fc1b43-2710-48a4-b156-3b53a53809f3 CLINVAR:627218 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 864fc1d2-6ceb-40b7-9eea-6e29c0ed3382 CLINVAR:996178 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 032fae8f-8f95-4cef-be51-d02bc8ddb3e0 CLINVAR:996178 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c196e5c-d386-420b-b53f-543fd7d7cc28 CLINVAR:996159 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2b7b8816-c72b-4441-b7b4-f179c50360e2 CLINVAR:996159 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 819f9fae-1fb1-4407-b54a-f43445a51baa CLINVAR:996165 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00e5acd2-11cf-4ad3-9fae-11a61ebb8206 CLINVAR:996165 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed4808d4-ccbe-47a1-beb3-d21ca213cfbe CA290949843 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81f91a33-eb16-465e-bc2d-31ef0a871760 CA290949843 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af2cc3b5-44a8-4592-b89e-d445e2327c67 CLINVAR:2893 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 466643bc-0b06-4f99-98a9-67bf5b2b6d36 CLINVAR:2893 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 933c30d0-2a4a-4e22-807d-fc2fc31fa81c CLINVAR:996176 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6b293ae6-0a6e-4d62-bd66-23e296a1970b CLINVAR:996176 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6fa432-a17e-4357-a119-c5400600128e CLINVAR:996180 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 941d4a37-e000-4eaf-8072-d470d3c2fb21 CLINVAR:996180 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 779c8d29-4d13-4e7b-b97a-36dc330f55fb CLINVAR:996172 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a5e6e19-1042-4775-ae3c-173490f254a0 CLINVAR:996172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df18623-8b93-420e-aea1-771c822281d1 CLINVAR:996161 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8f0ab92-2eb2-44d7-a11a-e88592e18766 CLINVAR:996161 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48054df3-5c60-4446-881e-4cf70c4fbabd CLINVAR:996173 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6e14e42-cea9-42a7-93dc-205591e6cf0e CLINVAR:996173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6099c999-ab84-4b79-a494-95cdf7fa2b05 CLINVAR:627131 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc040098-e009-4baa-afbb-3d5e449bf6fa CLINVAR:627131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14c9646-16f3-4fee-99d4-c0c5e815aa2a CLINVAR:996207 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f728844-50d2-41ac-8837-dc05cc0035ef CLINVAR:996207 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7729fd7-3f7a-46ea-994c-48647f4f52d0 CLINVAR:812735 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0d208ea-6299-4159-bd98-239501a960ae CLINVAR:812735 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 362699c7-f26f-4c06-84d3-7a547ec2e078 CLINVAR:323868 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72376fb1-36b9-4093-9473-065ddd803263 CLINVAR:323868 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a47526-d659-4f2f-bd83-679f6a4cd8b2 CLINVAR:996177 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9093cf21-32c2-4f2f-b042-0b59d9d63da7 CLINVAR:996177 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c3f23c-7917-4b14-a00f-0f8e16b82eae CLINVAR:50233 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59f33e0b-dc32-4523-81e5-6e237ea9498e CLINVAR:50233 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60dc2127-4941-42d9-8d49-908716eae2cc CA399798321 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8222583d-3c94-4f7e-9b27-0828e7747b0c CA399798321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d75ddc1d-d08a-4feb-9e2d-fb777c4d3393 CA400032726 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7aa5b283-8b49-4611-b608-d21d5bb81c34 CA400032726 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34f620a4-9a41-4d95-9f18-0a125115f640 CLINVAR:996187 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a15bd86b-41ee-4792-9812-712b7050ab7d CLINVAR:996187 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb38aed-529e-4db1-ba30-2118287f9b7a CLINVAR:953045 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fa7faac-a65e-43b8-a401-a029d078eab9 CLINVAR:953045 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e475db61-c1b8-4e87-9d83-77b6c3b5de6c CLINVAR:996160 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc16da4e-3dc4-454d-a5bc-cd12ae4f6f67 CLINVAR:996160 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7619c74-6e13-4fd0-aa72-000257852d7b CA8602986 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88a2ef41-e492-47fd-82f8-35b56d811801 CA8602986 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9bde4ca-c5b6-44cd-9e45-c940ae4fcd48 CLINVAR:953034 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e9b662e-4724-47ee-9f42-226cc0b73ede CLINVAR:953034 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b8e277-5b60-4e18-afd8-eac2ab22f2c9 CLINVAR:953021 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b793b509-eeef-4105-886a-571de05e53a3 CLINVAR:953021 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f99d4ea-5c28-4940-9276-22f84a7b223b CA290949031 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d3ab1d9-6dcc-4fdb-95d7-72af8a9b1051 CA290949031 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaa63549-197d-4e9e-8366-b22d85875a79 CLINVAR:996190 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 04c31c80-cd8c-4001-8e1c-68a3b6fe916f CLINVAR:996190 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 997c97e6-c94e-4ace-9fd9-03a320540a49 CA290955739 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 31a6c6f1-8bb7-409b-993d-d6c1ed9f3657 CA290955739 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 315c4a1d-4a59-45fc-9cb1-9eec8073992a CA915940289 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 510c9a69-c761-450c-8e89-ed2e540eeb54 CA915940289 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d040718a-ce10-471a-8f32-8ba02f242e2b CA290948990 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 089752bd-819e-41a4-8b00-eb4e03f6f7d5 CA290948990 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad9873c-a221-4de6-8a75-e46918192de2 CA400034866 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cef8dc9-710d-4206-915e-b0d93bf309dd CA400034866 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ebc7dcd-da63-4b0d-8e2d-67391327a2f3 CA915940315 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0c53d046-b34e-4591-aee5-b25675817dde CA915940315 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12a2da9d-2fa1-40bb-a6c9-0342b04f9547 CLINVAR:996212 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac18fc2f-1415-4103-9dfd-2471a8ab95c8 CLINVAR:996212 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6f331dc-740d-4295-a299-8c36cac4d10d CLINVAR:996202 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9be5b76-2aae-4977-aefc-8e1e027c0b18 CLINVAR:996202 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f432ffc-80c2-4f98-ae7a-b0465339a434 CLINVAR:381748 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 015ed6dd-47f4-487a-8ef1-832e68ba6472 CLINVAR:381748 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21094677-d1d4-496c-b7e0-38666b0b99c5 CLINVAR:996174 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 052fbf04-23b4-4f4f-9674-9eeb59dc7d8d CLINVAR:996174 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b1baf6-6604-4ab0-9b6e-d18646e881e2 CLINVAR:953057 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3bd662f5-c28d-4314-b680-fb032e068df3 CLINVAR:953057 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdc9e9a5-1836-4382-886b-e1e63dfec2eb CLINVAR:627299 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 406feaf4-4a4a-439f-a8aa-2c413b6f5457 CLINVAR:627299 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5455a990-23ff-4914-b630-9f74cf4c40d8 CA915940790 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 702f7640-4c5e-45b6-aac6-7c09705f85a1 CA915940790 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f09916d6-ed72-4b67-bc84-cfdf006859dd CLINVAR:953030 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c02d7cdc-a6ea-4c59-89ec-75ccbbad6e4b CLINVAR:953030 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1d4d57-f779-4c88-8644-dc13506167ac CA400032825 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a2a572a-881a-40af-b715-9368dfa15804 CA400032825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4c1a611-33f9-469f-a355-1e6aea03eb7b CLINVAR:627103 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c26df1e0-a6d5-445b-b5e7-ce5ee1f8fb69 CLINVAR:627103 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e58453c-5fc6-45f1-b69c-c775d8c8422f CLINVAR:996158 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 427ae1f4-7e65-4c02-8cd9-1800d7e12ca4 CLINVAR:996158 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6bdf278-df67-4dbc-95e3-8c91eae885e7 CLINVAR:953014 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e01d8195-1aff-429e-b0a2-b85cc368c566 CLINVAR:953014 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d4b3e23-9d01-4e23-8e61-f2499cb48602 CLINVAR:996201 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c187e20e-a982-4573-8984-af21ed2dad2d CLINVAR:996201 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0567190-bc78-458e-9c4f-7023f2d2033a CLINVAR:996203 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b7bb0e9e-7e07-4a30-bd93-992bf8639246 CLINVAR:996203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 173754fc-e0c2-4cb5-b62a-4f05c8cf5c57 CLINVAR:996208 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef83963c-e9f9-47aa-924b-952df2818c5c CLINVAR:996208 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8cb7312-5878-49a3-a9f2-b33c7f0e1c0b CA8622852 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2874ab99-6f38-48d2-910b-ee4bd8dcad62 CA8622852 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d197bda5-9f10-414a-afce-e7d0f6e78020 CA400020703 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2f57276-ff8f-4fbe-a01d-94e483544a5b CA400020703 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24fb26bc-2f35-44bb-b220-e82e19e1a236 CA626224450 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05b1e3bb-6005-4485-a2d9-719dc3382d71 CA626224450 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8755386a-389e-45ef-a99d-020b83e8f5cc CA400025022 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78eb48b5-bec6-4550-80ea-0440719df79f CA400025022 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8010b9b-f729-401b-9d2b-2deca1e77da8 CA291224887 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e349571-074b-4448-891b-2224eb38f5c7 CA291224887 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfb7ca28-8cca-4ba8-a98a-8b54192191bc CLINVAR:626993 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98fd0e81-7471-43af-b2aa-4c3535a7ea13 CLINVAR:626993 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78c2e673-80c6-49f6-a944-ed6d2f637ec5 CLINVAR:691627 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 563a32bd-b7a0-49a0-a15a-c585cceab97b CLINVAR:691627 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2efb54ae-ee97-440a-86f8-8fdd5677540c CLINVAR:996181 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20b8ba92-e531-41db-bbe7-c946134ce4ba CLINVAR:996181 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ccb546c-7080-448b-ba5d-c3277caf7a16 CLINVAR:50232 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b40553c8-5010-49fd-bc73-a1d880f32bc3 CLINVAR:50232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe0421d-87ff-4dfb-9a68-45f3d4ed903c CLINVAR:953039 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6528951-5797-41ea-a296-530c927d86d8 CLINVAR:953039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5acddb16-84a4-4ab7-a022-72153308e483 CLINVAR:626927 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da520249-8907-4adc-bb0d-c85f2442dbb9 CLINVAR:626927 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f18aefc-5f49-40a8-8260-e5e9c0ef01df CLINVAR:953058 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aef8b884-0d3c-4826-afed-7110e1f3ee68 CLINVAR:953058 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f14040d-9ec5-44f7-9a50-96d87bfd321c CLINVAR:953035 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62a243c8-01f0-448a-8a49-5de1a64ba65f CLINVAR:953035 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ee7366-1403-4b0d-a038-c1851275d804 CLINVAR:996166 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0240372c-d089-48c6-9266-3c6959ef3746 CLINVAR:996166 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8532b565-8afe-4175-b040-6c36604b7fb2 CLINVAR:953036 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e41a56b2-04b5-44bd-8ac8-a08d53933e84 CLINVAR:953036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dee2a85-a10b-4a30-bdbe-5acf89f67349 CLINVAR:996189 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f85b1d09-00b9-4f1b-ba64-45330beb6003 CLINVAR:996189 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96838b73-fc14-4b4f-b940-77e58203a021 CLINVAR:996182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2e5252d-b907-49f7-9cc6-772774e98960 CLINVAR:996182 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3089d2a-cfa2-4027-89b1-d8e32da769e9 CLINVAR:996200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4dcde765-e5a7-4826-b41a-2af8bea50730 CLINVAR:996200 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c72d1a47-caac-4af1-b163-e28a6e741afa CA400023596 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a52d3d30-9bcb-4e64-b0a4-fb4ea2eed57e CA400023596 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaad7664-d917-451c-b8ca-fc6ff5b1bcaa CLINVAR:996205 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a0d29f8-86d0-47af-be05-b0c1182bc878 CLINVAR:996205 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74df3244-8773-4ab0-afa6-ecb15c358d96 CLINVAR:953012 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83824217-f8f3-4764-b8a4-f417f612024b CLINVAR:953012 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba6d5313-02cb-4404-bb14-5817049aef08 CA290954352 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34898c43-ee26-4ad6-80c8-cc9a63672db7 CA290954352 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c81fc9-3013-446a-b48b-88ae49730880 CLINVAR:953038 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e45fd63-bc97-4c2a-a2ce-d3372cfb0aa4 CLINVAR:953038 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8651e315-7e54-4a25-a4b6-c137b10a5a06 CA399805155 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 627fff0c-c7bf-4df1-91b3-7010e0b506b5 CA399805155 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 638781af-02c2-4c0f-8a0e-59ceffa34428 CLINVAR:73556 biolink:genetically_associated_with MONDO:0019501 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05828da2-ac95-449b-a8ca-f5b69aa41ec4 CLINVAR:73556 biolink:is_sequence_variant_of HGNC:12601 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c27e63f9-582c-4da2-80a8-d31077e6a506 CLINVAR:203872 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb38d8bc-991a-430a-98fd-40d62af46bd1 CLINVAR:203872 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e3f6050-b550-4506-8b31-1d37eb3e2ba6 CLINVAR:883981 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a502961a-d941-4931-a41e-b40ec3e7e500 CLINVAR:883981 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b487b12-f709-4a2c-bdb7-030e7dcee25b CLINVAR:620 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0a82b1e-108e-4e1f-a24d-d5ddaf0dd4e9 CLINVAR:620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad73946c-63f8-4b7f-97cb-29ec5db4bbeb CLINVAR:102914 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68bd36a7-f06d-498a-977a-b2ad797af377 CLINVAR:102914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cace4cd6-a044-4c06-bf92-3dd0345a14c9 CLINVAR:102517 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31328287-fcc2-4cb7-8fc6-ac650a2f3abc CLINVAR:102517 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55f27476-0ed1-4dee-8530-2c816dc2a35e CLINVAR:102794 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab337075-df6e-414b-94b3-269d4e0c5c94 CLINVAR:102794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 380c7bab-da1b-498a-b5df-c611fae65f16 CA1139533026 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e18f33cc-9a6f-4bc8-941b-80d9888f9952 CA1139533026 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c2fb8c8-3f7e-4ac5-92bc-7383cf05cee8 CLINVAR:102508 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77567c11-eada-4044-af56-8588991c58d7 CLINVAR:102508 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 041ff4ad-72c4-4f00-93c0-fae0feec834d CA645584081 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e3c7587-5ab2-4b50-b64f-6c8c8c307d43 CA645584081 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb4c897e-81c3-4067-b89c-1bcf703d1a75 CLINVAR:558091 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41992c44-8416-41f5-b4aa-6bac7d9e1cff CLINVAR:558091 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca26dbe-884b-40bf-9ca4-cee9e260c5c4 CA16020897 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 636d4ac6-7da3-41bb-945d-956a3fe19c70 CA16020897 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a6479a4-f49b-48eb-8194-1de4a88a8a2b CA16020853 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b373e904-e266-4788-a9f5-4e4f99d3577d CA16020853 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 982a3ed1-eb62-4e19-a558-ea0483dcbac0 CLINVAR:102501 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 245179e3-3b42-4502-88f8-863eea287157 CLINVAR:102501 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2178d88a-9ccf-4501-92cf-2baa1a80a101 CLINVAR:590 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e6d5bba9-1736-4c1b-9678-11d6113aba66 CLINVAR:590 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd740aaf-3475-4f94-a530-34ba55d42f78 CLINVAR:446524 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28e550d3-f12b-4e3e-a6ff-4fcbc347ec7f CLINVAR:446524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c892e0d-e46c-4333-b00d-ff467ef129e1 CLINVAR:120290 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a750aaca-e333-4b96-b016-2a6c6ade3eef CLINVAR:120290 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170cfb45-de3c-4c74-8e20-96cf137a36e6 CLINVAR:102883 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2ebdfae-37cc-45ec-9a80-14c4db8a19bd CLINVAR:102883 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00ca5e84-d776-49cb-bbc2-c30e33c05091 CLINVAR:12969 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02aadc57-774f-482a-9f2b-c5c626ec2b27 CLINVAR:12969 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22a71fce-1e65-4502-8715-e550c7ae1b3a CLINVAR:12993 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72f7ea7a-2f82-43b1-acf2-74be75b41ad1 CLINVAR:12993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7932580-281b-4b11-b162-0ffee00bf570 CLINVAR:133101 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9954d246-7111-4bf2-93d6-a1f6dd4edb91 CLINVAR:133101 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9bb9d0f-7368-49a1-9803-23f4cc8395f6 CLINVAR:133108 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad513d71-3faa-47f1-b224-23c0bbc00cf7 CLINVAR:133108 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 988a636d-fc78-4886-9cac-7427092541c7 CLINVAR:133193 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d7fd8bf-0c16-47de-97cd-eebfbff5313d CLINVAR:133193 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c1aefde-1ed1-4379-b527-056a6ceddd86 CLINVAR:133207 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a539a79-e5a9-4fbe-9e8b-33fd29cc143d CLINVAR:133207 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645fe639-6698-41a0-b24d-d37661dd9636 CLINVAR:161371 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb5d7bd8-2041-4228-91a8-4d6cd8a4e54e CLINVAR:161371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77430529-fa5a-485a-88fa-5d5270487e5e CLINVAR:1214007 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97bb42aa-6c37-4a22-920d-206a07eca1d6 CLINVAR:1214007 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45c0302a-3fda-4f48-880c-91256d2f83fd CLINVAR:133117 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cce90495-b4ef-4350-a418-3dd541dd35cb CLINVAR:133117 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b93e053-a684-47ca-aa1d-87b0683c00bf CLINVAR:133094 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d8e0c6f-0824-4c84-9e0e-8a86650b8cc9 CLINVAR:133094 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 511e38c5-4601-4dee-9cf3-7ea50ddccee2 CLINVAR:133204 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d50ecffd-a4c4-4141-aada-4b949d29fb79 CLINVAR:133204 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05d3ac42-4aad-46c1-86fc-97b407afa663 CLINVAR:573252 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7b99333-8c20-455f-ab10-6333cf466981 CLINVAR:573252 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71daef8f-1c01-4fd3-99aa-768199db1531 CLINVAR:635269 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8d928fb-ba24-454e-8e26-9cfca0978a7f CLINVAR:635269 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cd5e9fa-94d2-4e78-b81c-ed8ae1d02bad CLINVAR:133242 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f8620e7-9d62-487d-a6c1-78a2838ceee4 CLINVAR:133242 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b956c73-36c3-47a4-ad79-e31ec3e0d1a2 CLINVAR:65927 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76f57066-a7fa-4092-b1c4-12c51d6e7e13 CLINVAR:65927 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b04ac92-b3a1-4a19-8f86-d1b4605452ef CLINVAR:133030 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a06816b5-fa30-46a3-9255-208ae9a7a19b CLINVAR:133030 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad14e601-9d56-4096-bba5-ef5754885996 CLINVAR:161374 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5b36782-d61a-474e-ab5f-85ede3374677 CLINVAR:161374 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 014ba0bc-d0ef-497f-af2f-9ca97d0e9805 CLINVAR:133099 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e11215f-1626-4d44-ad69-b8927cf62ca4 CLINVAR:133099 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0101861f-0762-4b38-8073-370cef21570f CLINVAR:133182 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b88fb9eb-dde5-4ca6-a4ce-f424ab5bfc7f CLINVAR:133182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23a734ce-3db2-4783-a97e-f08a40c0c059 CLINVAR:133102 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d15419d8-153e-4dd1-89f6-49fdcd5c6055 CLINVAR:133102 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a37c55b-6ed2-458b-ba3b-efb23f208c8c CLINVAR:133245 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f3ca172-544d-49c0-b221-b903024eaa69 CLINVAR:133245 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fba71374-0a8b-4821-9a27-5bdbdeeaa318 CLINVAR:12964 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cdfc09a-464b-4a40-805f-9208a459f49a CLINVAR:12964 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7241dab-f122-4b60-adc9-c0408e4bbdb7 CLINVAR:133147 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6107acf2-fd30-41cc-8da7-eee4ecd884d5 CLINVAR:133147 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c737ce5c-613c-49cc-9cfa-97179c1d3d43 CLINVAR:329061 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1a00c81-b202-46f5-aecd-c246ac9c3d1c CLINVAR:329061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ed96715-0fc6-4132-a7ad-4ae2ee3c7835 CLINVAR:133133 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 989c45e6-8996-4ecf-af4a-500f24dac853 CLINVAR:133133 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a1aa969-eabc-4f79-a4ff-afda8d71c26a CLINVAR:133004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen adcc2e62-df4f-4a02-bf63-748155d95b07 CLINVAR:133004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf091e8-f18b-414f-9bbc-31ae07032d94 CLINVAR:133132 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c009270-8fff-4c44-bbe3-3e57509494a8 CLINVAR:133132 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf7a2466-46ac-49c1-a6a7-0485a7ede0de CLINVAR:133171 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f34a6b17-b4d9-471f-b1e2-0b0d3c155970 CLINVAR:133171 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7315615c-fe55-4f56-a40b-55fdd8b4e473 CLINVAR:65984 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb995434-f37e-4b9b-801e-27f30221c752 CLINVAR:65984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08a6f958-329f-4ce0-9fab-d1bc73d5f058 CLINVAR:133136 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96ab73f9-c6c1-41e1-89ec-e104cf7646f3 CLINVAR:133136 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf7b1da1-4028-4a08-b066-84fbdbd6687c CLINVAR:65953 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85ccac80-a215-4674-9fe4-68f99822f697 CLINVAR:65953 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01af527e-d7a3-44d6-8d50-521a43629739 CLINVAR:1214004 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a899ccb-6a8a-440f-8766-782e91c623b4 CLINVAR:1214004 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 484b9acc-af61-419f-9447-27e22fbb5828 CLINVAR:12973 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8460621-ec57-4390-86c2-a69117b4d0a7 CLINVAR:12973 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2dd4ed2-9e8b-4ea3-b986-7c71988916c0 CLINVAR:1214001 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9033aec-5ee5-4284-aa27-d1daebd7e7fe CLINVAR:1214001 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e2b671-3097-45c7-85f7-89807ea41793 CLINVAR:133003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbc18a99-8358-44a7-80aa-788cbeb1b35d CLINVAR:133003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee6fd467-0bb4-42a2-9576-08aeef8e8830 CLINVAR:590508 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8be0b9ac-a3bf-4283-8041-768680f94fb7 CLINVAR:590508 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c7a0dce-3a42-4515-a22d-0c95d4f49564 CLINVAR:133139 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 979c61d2-e9bf-4ef6-b531-1333e412384d CLINVAR:133139 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c2cf3d5-7e2f-4fad-9fb0-80eb56019dd2 CLINVAR:1214000 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a06d30f-e62a-4172-90f4-091b83e7f2ed CLINVAR:1214000 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6085cd2-cfe0-4967-af58-e572555b4b96 CLINVAR:1214008 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a208c9e1-0099-4330-964b-8ae22150e471 CLINVAR:1214008 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccd0a2fb-e5e8-4cf9-8a62-dea06e807f0e CLINVAR:590585 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8fdf3226-3978-4e72-8837-270921cc1435 CLINVAR:590585 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07554560-d014-4d39-8d4a-17d22c313ee6 CLINVAR:133045 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c86cc87-291c-4b8d-a48b-390154384f07 CLINVAR:133045 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87ffc0e2-fd3c-4dee-a029-00de5b147895 CLINVAR:133122 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b319edf7-589c-4f10-b22f-80568aba1bfe CLINVAR:133122 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a683bfd-55b5-48b9-9bcd-c6220bd4b511 CLINVAR:133076 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81161841-e03c-45f7-9859-ffc7f25b4631 CLINVAR:133076 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1999c56-b2b5-4950-99ab-ea82e57356de CLINVAR:132995 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f04c4d3d-5b95-4fa1-926f-90f818f2ba83 CLINVAR:132995 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10445d91-652e-4aa5-8e23-9573188ca1d6 CLINVAR:133141 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1dbde2b4-a569-4737-a852-a7b9a7342823 CLINVAR:133141 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39b81393-3aae-433c-a17c-1804c7336f8b CLINVAR:448182 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ebe193c-a84e-4c7f-b11a-d53a4df7460c CLINVAR:448182 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbb3a38c-5062-4459-ae9f-450a1d229602 CLINVAR:478267 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6c704d7-30b7-4db2-99c4-88ef65b5c4fb CLINVAR:478267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b443d1d-d5aa-453f-87bb-63e408849a7c CLINVAR:133129 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 19b6f3e6-a90c-4d29-b1f7-b30ec0b82d2a CLINVAR:133129 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4cd9717-00fa-430a-b870-b647f6be06b9 CLINVAR:133103 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8eacc45d-b864-4812-8776-ac641bffb0dc CLINVAR:133103 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f016b56-9ef7-496f-b69d-57d341cae06e CLINVAR:132992 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f408da92-cce3-4172-b6fe-626763d754ea CLINVAR:132992 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e644458-5499-4660-b8b7-1184b905c980 CLINVAR:1214005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 926b4e9a-a3c4-437a-86be-e9fe69bbb4ac CLINVAR:1214005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18473cf6-1124-494a-9bbc-ca6b0874cf50 CLINVAR:133137 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae8fd3c7-cb73-4278-998c-13397f65a2c2 CLINVAR:133137 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63503420-053e-4e77-af8b-7c59589fc6f0 CLINVAR:65932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66510a22-018a-4627-a456-afe4407aa37e CLINVAR:65932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad5e00bf-c90e-4668-95dd-2d53ecd73a69 CLINVAR:478260 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e25ec97a-d479-44d6-9942-6d17304b1fb1 CLINVAR:478260 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ffbcf93-eb5e-443e-9316-48348487ab66 CLINVAR:133170 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c89b03b-e8df-4285-998f-f78b6cd0809b CLINVAR:133170 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8596204-28a7-458d-8fa5-aa0947e4257c CLINVAR:65993 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad7129b8-4bf3-4e62-ad92-612da3963980 CLINVAR:65993 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df07db52-bee3-42ea-aa9d-5f431e4080c4 CLINVAR:159840 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 296bf7cc-71fb-4d62-a114-dc3fd7c9473d CLINVAR:159840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80232e17-251e-404d-ab31-2aa9d7788c8f CLINVAR:133140 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3de87455-f185-4c39-a3ae-9ce136a1606e CLINVAR:133140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b8f2b95-6699-488e-9c1d-edf6ffeac33d CLINVAR:291315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66eae58c-527c-4f35-b8bf-a501597e5a83 CLINVAR:291315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 834597d3-8435-41d3-a638-ef05eeda3ee8 CLINVAR:1214003 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc39dfe4-12e9-4b19-a021-91ce6aa22f55 CLINVAR:1214003 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b678f742-abf1-4f0c-b26c-cd4f98a8d547 CLINVAR:133046 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abf6f309-818c-45c4-bed1-d20186237623 CLINVAR:133046 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c14e5e74-342f-4d7b-9923-5f21aaabbab0 CLINVAR:1214002 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eff0c35f-fd61-4d5a-b3ae-9c3cbf12fabe CLINVAR:1214002 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318a3fd6-809f-4864-a947-8a0c3443fa7f CLINVAR:803553 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 367acdfb-06e4-4257-9b35-922a634c2db6 CLINVAR:803553 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e67ffef4-4c0c-4467-8dcf-c900e7b00bd4 CLINVAR:212100 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b3ce0d1-042d-431e-857f-f1b49d05b8a9 CLINVAR:212100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6285b9b7-45aa-4431-a85b-e4cce7a771e1 CLINVAR:55831 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc31f57f-a1eb-433d-ac35-dcc82409d7ab CLINVAR:55831 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f91f807a-1871-42d6-8f2e-1efc36fcfa3f CLINVAR:133096 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28fc3dd0-a9e9-4e37-a14f-f827141e4fd4 CLINVAR:133096 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 200a0945-b92c-43fa-86a5-2906d5592ab7 CLINVAR:102859 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c48073fc-f24b-4f8a-8f66-3195b40e84c5 CLINVAR:102859 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd8030a6-39e0-425a-bcb4-871b1c422a15 CLINVAR:102727 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 441b0a4c-5d74-4e11-ab4e-da683cddb6e6 CLINVAR:102727 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce1eeae-ef19-4b2a-b26e-fb5aad940a4a CLINVAR:664621 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b196cac-eb10-462f-9348-5e991aeb9de4 CLINVAR:664621 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9601c302-e714-418f-92cc-ed680f1ddab6 CLINVAR:102738 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9bf733e3-5975-4b83-bea3-685f7e9d2778 CLINVAR:102738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e546f119-9393-4c02-878a-7fe8c30075de CLINVAR:102878 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ca770b4-b09a-4c12-a94b-46b91f8454a1 CLINVAR:102878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6beb6d17-5589-4b7d-a138-8c390a0c1941 CLINVAR:102890 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6b62f523-0906-4216-b919-bc3b4ec97eac CLINVAR:102890 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6460c127-6c34-4fea-8ad7-660e715e922b CLINVAR:102464 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7525eb56-dc57-47d4-bec9-9c73b35b74f4 CLINVAR:102464 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 144fe2be-902e-46b0-8b76-93e347968250 CLINVAR:102917 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 598e1053-7278-4c70-89c7-4024e28f98bd CLINVAR:102917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44d56c58-9765-41c7-887d-e0e0b8d04537 CLINVAR:282842 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86e20046-d452-41af-a423-6a44382f1500 CLINVAR:282842 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a91ba94-17ac-4191-bf46-571ccea28485 CLINVAR:93540 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86ca48a8-1948-4183-94a8-05a09c5012d0 CLINVAR:93540 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f5af805-5d2e-47f8-97f8-61b518d55ce7 CA6748738 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03eba360-7946-4c67-bfb6-2ef54b3e5b00 CA6748738 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1077fef0-2118-41d5-81de-fe133abb7867 CLINVAR:2896 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17123ffd-06ca-4028-a63f-54cd92181885 CLINVAR:2896 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b231af8f-9ecb-4adb-8b02-2010066e777d CLINVAR:952997 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c2b2fb2-67b4-4a96-85a0-5e744aa2caaa CLINVAR:952997 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c426489a-8bb6-4d8b-9b49-ee180794c365 CLINVAR:952995 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b83bb14-c79d-4eb6-8de5-56dfc147057a CLINVAR:952995 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4893f9f5-d8ba-4e43-a391-6fb99803a9a2 CLINVAR:132709 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 628a69a5-a87d-46de-96af-f8699257ac75 CLINVAR:132709 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d6c863-098b-48df-ab8a-02d43f920bb4 CLINVAR:234571 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d66f3588-7ceb-4946-8f39-2b3f4a971ace CLINVAR:234571 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f40ca87b-a1a7-4cda-80b4-d61ed339b93c CLINVAR:532474 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b4bd2cf-f85b-43dc-a7d1-e076daa4dffa CLINVAR:532474 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6b50976-5939-4854-8301-9bcc9da93c40 CLINVAR:532457 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1d6cfad-0f63-4463-a69e-296af091c0b3 CLINVAR:532457 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73a75ee6-979f-4df1-baeb-6b5222de3fbd CLINVAR:486826 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c5493f7-e1da-4795-9e8b-a9914af8842a CLINVAR:486826 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ed28b8a-5ef9-46fb-b879-38fa97684319 CLINVAR:463723 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3600a4ad-275b-4bff-afd3-a8d768e2dccc CLINVAR:463723 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8acd06a5-925e-4fc2-8f56-3a33438946ea CLINVAR:481704 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84699bf1-4205-4070-9e0d-7505ff67fc99 CLINVAR:481704 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1152dc5e-4c96-432e-8638-5f496516a11f CLINVAR:532459 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 66dcbd1c-28cd-47c2-8606-47a438f98961 CLINVAR:532459 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c995a796-a5cd-42de-a3db-cc663dc032d2 CLINVAR:233417 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de8ecf25-490a-4e59-96bf-f62251ae67ec CLINVAR:233417 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4412d7f3-0d89-4337-858b-12aaa086491b CLINVAR:127915 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6acb804-e020-4203-9ad0-95ec73273222 CLINVAR:127915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff25a2ea-e8a7-45c2-94f4-d49d61d67412 CLINVAR:406622 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bcd926a6-390d-4955-903f-3c8067751516 CLINVAR:406622 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 278dabcc-6ace-41ef-9a82-6ee1ecaa429e CLINVAR:651982 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ce4837c-40bf-4a4d-b9c0-8fcbe7ff6472 CLINVAR:651982 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e24de9-227a-411b-9bc6-dbd0c68b702e CLINVAR:428629 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6da9814a-b7dc-4258-9c88-ae910df0e3dc CLINVAR:428629 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a3baafa-8453-4248-bb7e-21c325e5157c CLINVAR:371806 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23044b37-b5be-49ad-b7a5-7e5e2254319c CLINVAR:371806 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cd4c32a-8cb3-4744-9605-694049597de2 CLINVAR:479514 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93c4e8bf-dc50-4633-bdba-b166ebecd933 CLINVAR:479514 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faa1ea14-d406-40f5-b8e2-1853b2e28be3 CLINVAR:421639 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cad621f6-31ba-4d4e-859f-bef3a0f72176 CLINVAR:421639 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cb272a0-6cf8-4825-ad27-e837db9333c6 CLINVAR:491520 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64c54a39-28ec-4f73-80cc-d35bdf5038b8 CLINVAR:491520 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15dda661-3af1-4d88-9113-a0290e257818 CLINVAR:481028 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c766f185-c8c1-4774-b7f1-19bb72550cd9 CLINVAR:481028 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9258d00-efed-45a2-a221-9402a2604054 CLINVAR:224529 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38157882-1918-47ac-ba96-4d14477933a7 CLINVAR:224529 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee47c400-7cd4-4076-8012-2eb9743fb6bb CLINVAR:573147 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 576dc593-7fef-4fe3-864f-2979de0b77ea CLINVAR:573147 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5624656e-3437-4a44-b381-e643ea717be8 CLINVAR:428634 biolink:associated_with_increased_likelihood_of MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2521799-a8bb-40ee-80c9-f268f34b6c2f CLINVAR:428634 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d56700f2-6408-4a62-9f9b-350cf0991cb1 CLINVAR:463736 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0b89679-4af6-494d-810e-543c9a13b2b6 CLINVAR:463736 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77ae0229-1a05-436f-a4a7-ab15b6ccb7a9 CLINVAR:918853 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d78316ab-ed80-4d7c-86bd-2639fddcba6e CLINVAR:918853 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e28f7d9c-6582-48a6-bc4e-58f098597253 CLINVAR:234636 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d01ab1c-6725-4318-a18f-02c34c0c0647 CLINVAR:234636 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 084ef8ce-8776-4dd6-bed5-c34b2443ede5 CLINVAR:483276 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5f25fb2-4792-4566-af15-ddc58dd88c99 CLINVAR:483276 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 232d1df0-7e46-40f1-b44a-2b43f01fde29 CLINVAR:207545 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9bcb94e3-f2c3-4999-861e-e415245d9979 CLINVAR:207545 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c90cdd40-d03a-429b-a226-d84b2dfc2f6e CLINVAR:95378 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55f1be85-dc13-490c-8741-a4958d4fd720 CLINVAR:95378 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab48c8b5-c759-4331-b42a-7def121e8d08 CLINVAR:167702 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 576332a0-66e5-4991-bb2c-95de51a56f98 CLINVAR:167702 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60bc417f-008d-45ff-8059-744e8ee4f788 CLINVAR:95202 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee2b42e7-469f-4991-9494-31a5ab771c22 CLINVAR:95202 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 265b0720-8b00-44e1-a7dd-2329f5de670f CLINVAR:143406 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47dcd786-f875-4010-a3d7-e297ed39451c CLINVAR:143406 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2779ae75-9749-48ec-b0d9-a5c2c92e33d4 CLINVAR:158602 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e984103f-a2ad-4b8c-b178-32f90306cd5a CLINVAR:158602 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 972e273d-5904-402d-8189-ffd47e232ca0 CLINVAR:383439 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eafd7514-014a-4e93-8c1d-ec732603796d CLINVAR:383439 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b98df37b-7c10-4053-8ac0-b450e00c4ab9 CLINVAR:189612 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b36affd2-8833-4b1a-82fc-1c7e1c42a81f CLINVAR:189612 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09eaec73-d05b-471f-99a3-24de81472481 CLINVAR:156616 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2b888c4-a1d6-4185-ac6b-821290540c2c CLINVAR:156616 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e2cc56-2be5-4210-9ec1-5f3334207bb4 CLINVAR:205485 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3759f215-ff5a-4bd5-9595-d43c0b4d0c04 CLINVAR:205485 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebb911b1-afda-42f7-a655-268906b6ebf2 CLINVAR:158179 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 221215cc-e616-4d86-8364-bd6e2f470fa3 CLINVAR:158179 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1ed0959-bdf0-4f1e-a479-23a5d656a20a CLINVAR:7967 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8145c01-7833-4270-88e6-971d1fe6ad43 CLINVAR:7967 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df54f015-1e5d-4336-adb2-91e15bf8fede CLINVAR:546267 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54fb16f6-d79e-4ef2-914b-acd7a50a8e50 CLINVAR:546267 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cfdec42-2520-4f0f-bf18-8db93bf04530 CLINVAR:214935 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 884e76e6-7267-497a-8f6f-58d942a2e4d5 CLINVAR:214935 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb3907ec-e933-49dc-8319-4d56bcd49a02 CLINVAR:10880 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48878d67-48b7-4662-a8ec-bb79a3e6ffc1 CLINVAR:10880 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95867e1b-327f-4684-b499-a340392cfd0a CLINVAR:214941 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a0eefcd-044d-40bb-af67-94c0aa7b5203 CLINVAR:214941 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6ce7b8b-3026-41b0-ae4a-4991fca12ca9 CLINVAR:655703 biolink:genetically_associated_with MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1127de1f-3c27-408e-9e9e-bd2f2d008849 CLINVAR:655703 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34e6cbb0-029a-4f3a-8ac6-930c98aeeb26 CLINVAR:391039 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2beea17-d3f9-4e0c-a98c-19782e40431d CLINVAR:391039 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05f68dbc-2751-4a36-b6f3-820e0b8f8005 CLINVAR:2317 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 892b6bdc-3e09-45c4-a100-f0ce33bf32a7 CLINVAR:2317 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a5ac81-5306-4190-86c0-516672c3882b CLINVAR:129997 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86eecae4-ca71-42fd-a2f3-a55243fe382a CLINVAR:129997 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d9dc28c-c352-4307-a191-228712feb968 CLINVAR:138764 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7508fcd2-27d6-40ae-87e3-044b7ec5b3b3 CLINVAR:138764 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d87522a1-38d2-44a2-b0f5-abe5bb05ea92 CLINVAR:597808 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af925b93-94f9-4835-8a1c-589419a3228e CLINVAR:597808 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18e59c42-b1f7-4b55-8cf3-af8aa440bf57 CLINVAR:21315 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d674a02c-28f6-435a-b914-1d21e68a21fb CLINVAR:21315 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f59f46b-31b1-44bd-92c8-793a4ece9ccc CLINVAR:285869 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d5de9a6-630e-4c0b-8ef6-2da097380afd CLINVAR:285869 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f5a3e12-90b3-4af6-8053-7f9e3cf3d109 CLINVAR:378418 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fdf2059-b828-4dc5-8ea8-2f59ab73fbf4 CLINVAR:378418 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a44d8e6d-6fec-4f34-8f21-d42b174b61f7 CLINVAR:885824 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e02e3170-8336-447a-8fe2-33803cda7fee CLINVAR:885824 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e4b23e-6df6-4842-8b7e-d4e4dfce5052 CLINVAR:886829 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc6c4289-bc51-4289-9a0b-33af9eec26c1 CLINVAR:886829 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a28e0409-b7a6-4433-b037-e3a7974152e2 CLINVAR:426681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8444bf24-bd28-49f8-871b-d5bc424e6579 CLINVAR:426681 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8b02764-fd60-4b9e-91b9-c44e6a5aaa98 CLINVAR:619340 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7046f04a-94ea-4a3d-8886-4976e94ba237 CLINVAR:619340 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb8c5c42-bc15-48aa-8608-4bfa9fc5b2bb CLINVAR:317304 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0e3b455-4cc4-433b-8b8d-44873a5fe4a0 CLINVAR:317304 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cb0f1d5-1a67-4166-8ada-8e0a7004717d CLINVAR:129995 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0b96bcb-662c-49d5-a939-f5f9b52805bb CLINVAR:129995 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dbf166f-95e0-48d3-88a7-3c53bef618ca CLINVAR:206553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afd8ad05-fe55-420d-8739-6b3f18218fb3 CLINVAR:206553 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57ed5463-d682-4267-9220-966bf5c584a7 CLINVAR:504504 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a62bc62-c327-46ff-9315-02417ab87d7f CLINVAR:504504 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7c6e431-b4b7-4c7f-a530-3b0c175c9f26 CLINVAR:620293 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 748709b2-e7e8-4007-8237-53f4d4124127 CLINVAR:620293 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35d83dec-01b0-44e9-bdea-ebaef091b8e6 CLINVAR:143822 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b506821-faa0-40df-9c3c-e75cec4cbad8 CLINVAR:143822 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6199d4-c307-486f-a335-86bdeb9efe4d CLINVAR:437192 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb8c62ae-c06f-44fa-bd66-02eecfa0f87e CLINVAR:437192 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 592308bf-52b8-405e-84fa-f1beb70541a4 CLINVAR:195397 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bdee448d-95c7-4bfa-8a1f-0223044d95fb CLINVAR:195397 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c84d394d-6630-4fa9-8d45-a064d3f78cba CLINVAR:418572 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07e00a26-0fb9-47db-97f3-6deba185379c CLINVAR:418572 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11f55158-8ff4-4ffa-9670-fb474940db0d CLINVAR:94113 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9dcb3983-2dfd-486d-8b19-523d524a67c8 CLINVAR:94113 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ce322eb-8edf-46fe-bd95-d8b764d4081f CLINVAR:102891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a74c56e9-41b8-4bde-9aa8-e957e8117b04 CLINVAR:102891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a12a60-8dba-496b-8ea2-087b22dc7c0d CA16020891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3a041b8-2498-4e27-9788-b9144b32ad1b CA16020891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebfb23fd-3c6e-49cb-aa3c-dac481565117 CLINVAR:102466 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2eea47e7-c9aa-4de7-b86f-def73a238d06 CLINVAR:102466 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8512b93b-0fee-4d35-8434-2e8a603da651 CLINVAR:102467 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50c56318-fa12-4b45-a19f-49d15567a935 CLINVAR:102467 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2caa08a4-161e-4a8b-aca4-0ef4afae4762 CLINVAR:102469 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68c56a7e-38db-489d-b6f4-28afcc224ed3 CLINVAR:102469 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1015e6f2-461c-4f43-9350-facf191c291d CLINVAR:102471 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b61cdc77-1018-4bbf-a5b0-b941949ea218 CLINVAR:102471 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13120939-518f-46c5-a8d0-a9e7961e5efe CLINVAR:102472 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89b4c738-186c-4a7c-8184-ba6d53842018 CLINVAR:102472 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c94dcf0-f262-4be2-9d60-868ded1da120 CLINVAR:102512 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44ddb211-ddb3-400b-9eea-501c9cdd64f4 CLINVAR:102512 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9438026-174c-4dc9-8f4f-f02ceef1d3d5 CLINVAR:102527 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3e5f729-586d-4b85-bf73-74d316dcac9d CLINVAR:102527 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81fa8b3-2d97-4a8c-83b4-a61e4b087689 CLINVAR:102665 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d46213db-13a9-4af4-b172-3310227872da CLINVAR:102665 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e66ccb8a-8d53-44b1-990a-17c6528e77ca CLINVAR:690393 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 262c0f70-8876-460a-adad-2fe417a21e3d CLINVAR:690393 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fcf5e30-7639-4425-9e2d-eb9d315eb95b CLINVAR:434661 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef8aba55-b021-4db9-95b0-e8d186b5824a CLINVAR:434661 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c3bfdb1-49aa-4cda-9039-77d1edc645f8 CLINVAR:434662 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb089372-0520-494f-9441-73e99f126f9d CLINVAR:434662 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 052f462e-e3bb-4174-88ff-384b480ce6a6 CLINVAR:133342 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c75fd6a8-de23-4931-a9c8-6ff9f0481b71 CLINVAR:133342 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c058cc-0661-4767-b4a4-ef89c0107a4c CLINVAR:143578 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db309045-8242-46c0-99b5-8edd305c2dd5 CLINVAR:143578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c560e760-1e32-4da8-a766-9d298cc00bc3 CLINVAR:421239 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2cc71803-b37a-43b8-af67-1148db1e4db7 CLINVAR:421239 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8957a46c-a539-451f-bc9d-2d19d0471b2e CLINVAR:420601 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6790a1e-a2da-4647-9bc9-9b4cbb0778a6 CLINVAR:420601 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0557b52c-6f69-4351-875e-9cb81cb40740 CLINVAR:524012 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11a7a506-dd66-47fa-85d5-32008e13c43c CLINVAR:524012 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b9b43b2-2129-4821-8add-0cb01f9b1d3a CLINVAR:207239 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aca6e833-297c-4e54-8aa2-76e4c0f62426 CLINVAR:207239 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a8efe2d-ec93-432d-b47f-817f31ac58ad CA913189044 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92ac2e70-f7de-4a83-9810-3a3b0947663a CA913189044 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdce6e93-3c55-480c-9297-c2867242a218 CLINVAR:859603 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffa7834f-9a7d-4057-8217-02a309c0ae64 CLINVAR:859603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d22470c9-f331-411b-bee0-cce77b2bc615 CLINVAR:429629 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00e47765-ce78-440a-8f41-72d4294490b8 CLINVAR:429629 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4f6a7b7-b143-45e1-8b28-e6ac262dc7ca CLINVAR:11824 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea218723-9796-4e8e-8090-0803930b9aa2 CLINVAR:11824 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be88409d-34f0-4874-be3b-85cc04196730 CLINVAR:11503 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32d91091-38e9-4407-a284-8d53f7a5a1ef CLINVAR:11503 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30dc2c90-04e4-4ba2-97ea-3bc56f5d48be CLINVAR:503729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 55f90242-5633-4f62-9a45-fb17a27578e4 CLINVAR:503729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4b04ee-9985-4cee-a910-b967ecfc9bda CLINVAR:11819 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a918a766-34ab-4140-b503-dcc95fedb052 CLINVAR:11819 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fb9b531-1571-48bf-8efa-5f83cb650255 CLINVAR:7371 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65fb76b9-8fac-4540-85f3-fa72bf4e253c CLINVAR:7371 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8ba0ab3-9b71-4a9c-9c9a-47bb5496c6ee CLINVAR:212379 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69535afe-d834-499e-bc03-f4dab5819635 CLINVAR:212379 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6147c81-1310-42d0-b2c1-17b1daa3cce0 CLINVAR:451937 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11afd46a-020d-4731-851b-d3f6d4b460a6 CLINVAR:451937 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c3b6e20-f6e4-4323-b517-09699b99f1c4 CLINVAR:160220 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce128087-ec8f-4721-946c-63f6657d154e CLINVAR:160220 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1379149a-1a7c-4a65-b79b-b52857f3697c CLINVAR:393171 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c628d36-1710-4c0d-b3f1-b68773cf186f CLINVAR:393171 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3990a0f7-b5ca-46e3-83a4-f83f82e942d1 CLINVAR:156620 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1e2375b-47e7-43dc-998a-83ae147ae9fa CLINVAR:156620 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5b8bbd-0b0c-4a41-88a1-5d50a4d7c53d CLINVAR:432062 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b668e9f8-6346-4ad1-b2da-f09e45df4428 CLINVAR:432062 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bc8742d-430d-4d77-8f4f-2623d41d3fdc CLINVAR:11844 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a56bbd26-0be9-47ed-b3e8-dd9e84773b85 CLINVAR:11844 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b2e5e0c-d7ba-4671-8329-e2501741823a CLINVAR:160092 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 56771459-b192-498c-bae7-8dd96cc00b62 CLINVAR:160092 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbb4e612-52e6-49eb-8a8e-70d2e358b817 CLINVAR:155987 biolink:associated_with_increased_likelihood_of MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6632f746-a05f-47cd-a8ed-6ad0ba1d7d80 CLINVAR:155987 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d29a9cb-6d4c-497d-b954-bf15e95ed874 CLINVAR:143826 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abf7d9ca-176c-4a56-8213-f94ae0eea21b CLINVAR:143826 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb259e58-3f17-4476-b3e4-84edbc59ef24 CLINVAR:136199 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 639c4799-837b-488d-a40d-7f0969efd0e7 CLINVAR:136199 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea3e439f-fbfd-40a8-97cd-eb4d2f1c9bc0 CLINVAR:143524 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2ff434e-d61b-4b29-80a6-d0a894405ec3 CLINVAR:143524 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 761a82cf-45bb-4f08-adf7-d30cdb7d5ccd CLINVAR:155994 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65bc26ed-6341-4eca-8ba6-59a276061758 CLINVAR:155994 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baf7550e-22e0-4c89-9f3a-5b16e0ec8163 CLINVAR:918032 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c77e621-1e3d-4730-a538-0c4edde10689 CLINVAR:918032 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08a9306-c5b8-4021-82d3-4a4f4a5f5c8a CLINVAR:189554 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f2bb48f-7d78-434e-a673-e60c385f6582 CLINVAR:189554 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e8f7a4e-0b86-415e-ada6-f9992d155117 CLINVAR:93542 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7aabacc0-44ce-4d14-bd6a-435d2a65bc12 CLINVAR:93542 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d93c55a-8d8f-48f7-8263-3dd57c283b72 CLINVAR:95268 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24bc53cf-197a-4319-a889-3bd2befc25f2 CLINVAR:95268 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb8a8170-88d0-4e6e-85cc-78989cc06c75 CLINVAR:423029 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd43d44f-3534-4eea-bb62-1fcf2edefd1c CLINVAR:423029 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bc5a19c-18c7-4c47-8a05-0a6a2be5e145 CLINVAR:381549 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 418c32ae-0df6-44f8-8bf9-cffe86c3ae15 CLINVAR:381549 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c1ce77-b294-48ff-8b91-d130ee199f81 CLINVAR:156068 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd7dbecf-4201-4bbe-a54f-fd69955e83b0 CLINVAR:156068 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ca46731-9c32-4de6-8f70-8e091caa20d8 CLINVAR:7370 biolink:causes MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbf5deb7-47dd-46a7-886e-43a1d896893b CLINVAR:7370 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecbbed36-a2fb-4d95-8cff-b5d6d6d827d9 CLINVAR:11502 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d50e5536-bace-4b25-86d3-265f6fc56210 CLINVAR:11502 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a335e4f-5a9e-4245-acc2-b6515ce8bb91 CLINVAR:21318 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09c10bc5-fbb3-438a-948d-acf11e0e3989 CLINVAR:21318 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48611e9a-db4c-484e-bdb7-a948914ac79f CLINVAR:206556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87c715ac-914d-4921-a8a6-5a30892efcfd CLINVAR:206556 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80b286bf-9a67-41f7-88db-a824bc2d4460 CLINVAR:566733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8908bad7-7c12-4cf8-94fb-e64256fb16b4 CLINVAR:566733 biolink:is_sequence_variant_of HGNC:9179 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5a77edc-46ef-4339-9f73-94ba4cbd20bd CLINVAR:133032 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ae65f91-c7c6-456d-bc65-ad59b4806b6a CLINVAR:133032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be5f59b2-f4ba-4ffb-867c-45ee2bfdaf46 CLINVAR:133005 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23c386fd-a6f4-4db9-9c5f-66023f5a332b CLINVAR:133005 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbab46c2-7c23-45d9-9be2-623eca9f446b CLINVAR:133013 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d173c92e-cd5a-406b-bd08-7657d20cba9a CLINVAR:133013 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c23547-d32b-4054-94ea-ec6bd3d10c6f CLINVAR:1029908 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3290ba1-1124-48f3-873b-6ef14b781803 CLINVAR:1029908 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3113eb51-0126-4c43-8835-b413192c6dcd CLINVAR:1120227 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d37fed31-1797-4a6b-9898-5cebb9d14faa CLINVAR:1120227 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6151930-b7d1-4e85-9cff-c3b1bbe0f92a CLINVAR:933345 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1d428eb-b534-400c-a6e8-8d6922a95f87 CLINVAR:933345 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5a7cc67-58c7-410c-9407-5adfdb5ff427 CLINVAR:478157 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 095aad48-354e-4fbc-80f7-ee779b600f7d CLINVAR:478157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c24a7770-7aa3-438a-9269-9994873d752b CLINVAR:133036 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bdb2ac2d-8276-4cbf-972d-679635957073 CLINVAR:133036 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe937473-7a23-4b28-a21d-542b6bf4b13c CLINVAR:1019540 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81fbdcf5-6afc-438d-8261-ffd4b784fae9 CLINVAR:1019540 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75f507c4-0dcd-4315-bf75-cc04edd23745 CLINVAR:132988 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4838035e-a746-4bf6-b54f-660a574cdc97 CLINVAR:132988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 880f6393-de58-43c2-a44c-47af5ab628c8 CLINVAR:133033 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1edbcb07-04a3-4a2e-9650-a0cb4eed3ebe CLINVAR:133033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78588028-a418-481e-b06d-47218d3ab63b CLINVAR:1120229 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b78cb2b-cee9-465d-8802-85c94c0b931e CLINVAR:1120229 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 514c99b5-c467-4fdb-83c6-70d094a95618 CLINVAR:133025 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad9dc65f-aaf3-478b-9300-5fa9cc87132c CLINVAR:133025 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b4aba8-eb9c-4ea1-9f2e-7c4d95fd5684 CLINVAR:1120230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4454c9d6-6ba8-4b85-bda1-e008b1e55248 CLINVAR:1120230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e6d5fb5-dc84-4436-ae18-29ca2a05084f CLINVAR:133040 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd99a161-fae7-4cb0-8e41-2bd938fb24ea CLINVAR:133040 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4524f3c-a438-4552-8ce7-d3db1d8ce3cd CA16020940 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5dd23904-7e0a-4a73-87dc-e38fd570d982 CA16020940 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec451aa9-feb6-4f55-9aca-6614903c559c CLINVAR:639999 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8afb30cb-5364-4fd6-b9c0-e22ecf4c59f3 CLINVAR:639999 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e846c3-4b79-48e6-b789-a5bda250d381 CLINVAR:161377 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55c0fb43-50da-4729-a7bb-bcf1f4537cca CLINVAR:161377 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4f61d4b-338c-44b6-a89e-73970d35086d CLINVAR:102582 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cfff262d-7f3e-49cb-ae09-1c9543ad41e1 CLINVAR:102582 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7159ce6-bb7b-4c66-8a04-f40f45563729 CLINVAR:102554 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 025f164c-2ea8-491d-a378-e80d87b49ba1 CLINVAR:102554 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73af59d2-2936-4525-b451-cea25c52d81d CLINVAR:133042 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46ade4e9-15bf-4eb8-9c14-69f1a08271d6 CLINVAR:133042 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ced0a54-5ff0-4d4a-bb36-f8ecb3c49209 CLINVAR:590447 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1768525-c9f0-4e7a-8529-bd5a8b7d4bdc CLINVAR:590447 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d49628b-ef75-435e-8c2b-ce153ecb5fc2 CLINVAR:478199 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8dde3f3d-03c0-4960-a8c9-d25208a01dbf CLINVAR:478199 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a9620b-11d8-4592-acae-a397d03ad459 CLINVAR:65941 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea8c5850-a0cf-46d5-b38b-96dd31ebc8cf CLINVAR:65941 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da7dbbce-ba1f-42b0-8a6a-ec9e2b94d7e8 CLINVAR:133055 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28e8157b-0bb9-4336-b6ca-a9ebc84520f2 CLINVAR:133055 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe42ce32-09f5-4f43-953e-1d05e8c241c8 CLINVAR:285857 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d92c8894-7744-4ebe-ba9d-23299106d3e2 CLINVAR:285857 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be950b66-6ca2-463b-bdb7-0acfaac54704 CLINVAR:133053 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 536d038c-0253-4f4b-8b65-a937ad84b890 CLINVAR:133053 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaf7b828-c265-4327-965b-c86299d88bb1 CLINVAR:133056 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8eeec9ba-3a64-4931-aec2-57ab2ae070a0 CLINVAR:133056 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0208ac1f-2a74-439b-9865-9f3037b1f76d CLINVAR:654427 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b9ee2075-9f42-4d8c-b808-eed4722f6026 CLINVAR:654427 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1954734c-a377-4426-9f9e-1006bb09c2dc CLINVAR:478187 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45c0481d-109b-4608-b5f9-8d9dd4a765d1 CLINVAR:478187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43d149d3-ba51-48b3-85c1-c034bc11d60f CLINVAR:590453 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76d9a4fe-c867-4bb2-8e81-3785f8671d65 CLINVAR:590453 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af292d6e-a51f-486d-9b40-e623cad5810f CLINVAR:133038 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35890f4b-a006-4ff9-b121-b4a2144b41ab CLINVAR:133038 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 925b5708-3a56-4e3c-90e4-c95f7291c4e4 CLINVAR:133057 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2afbc41-afb8-4b5b-891c-4ee29a0f8589 CLINVAR:133057 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96723097-b259-4429-aeab-ec8a4294b2b0 CLINVAR:133068 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21d3280b-a53e-4b78-8eac-0d57b8617132 CLINVAR:133068 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfa6e4eb-25ca-42d4-ab34-45d09bdb932f CLINVAR:590405 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d65d7ac-2103-4374-b573-fc8cfbf7a4db CLINVAR:590405 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee06ac85-2fae-4d41-af4d-9d5a780da9f6 CLINVAR:590413 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8772ca19-cd8e-4f9d-92e5-356421c12286 CLINVAR:590413 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9fd7778-0b4e-42a5-a9d6-a4979ec92567 CLINVAR:1120228 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 969b7bb3-bd69-4b83-9438-f7162e101334 CLINVAR:1120228 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6597f4b9-6947-4ab2-98d1-ee8d6d64e7c0 CLINVAR:133060 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3b6624b-f5de-475b-9ea8-45d4e42d8351 CLINVAR:133060 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c632f277-a1cc-4226-ae8e-7e0daa21c0cb CLINVAR:102754 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79476b24-ed3b-4bc2-872b-1f4121c1abb9 CLINVAR:102754 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679fd5d9-946c-442d-bedb-636c407b99b6 CLINVAR:605 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8232bd90-fd0e-49f2-ac32-fa9a774b5dab CLINVAR:605 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f359fee5-35ad-47fa-be6f-a4c2993e82b0 CLINVAR:102808 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de19b27f-80cb-4f51-8534-a01bd4d52a61 CLINVAR:102808 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb64f40-82ea-4d8b-b44d-aaa5f043edb4 CLINVAR:102780 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08705726-5bbe-4e1c-a5ac-dfa74ff0b617 CLINVAR:102780 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ffd7748-4ea3-4d83-9226-35995d47273e CLINVAR:102496 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6d4a8ef-9a43-4f15-a74e-97148e018b2b CLINVAR:102496 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c70d7b7-59ec-4086-99d5-ea338edb1c42 CLINVAR:102484 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b3ca785-edd7-4ee1-9f1b-a34d783de343 CLINVAR:102484 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d129d293-d098-4609-96a9-9813e6a8c94a CLINVAR:102494 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e7c0596-f4b0-40e0-95d8-be8550856ee1 CLINVAR:102494 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42c64c11-4de2-4dac-bbf2-4a3523867da3 CLINVAR:102562 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c5329d2-5429-4db6-b0b4-df5feee3f34a CLINVAR:102562 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba2ccede-b4fe-4f6e-b521-3449b2f4236b CLINVAR:102580 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 579f4404-6343-47f3-b787-fdc5d1a2a753 CLINVAR:102580 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f827cdaf-8238-4f82-974d-6ca71c9a578d CLINVAR:102481 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae9dfbc1-5469-43ef-ba06-73ed78e6530f CLINVAR:102481 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ea176d-cc09-4f6a-8329-a707fa7dc4cd CLINVAR:102479 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d5309b5-adcb-4312-bcce-8e56519ef7cc CLINVAR:102479 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5365e5f3-cbd4-49c4-a838-91a0d1f3eeae CLINVAR:102480 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5f40c2f-5a44-4275-8d86-d97ee2036468 CLINVAR:102480 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c076af5-06a4-492f-866f-e64ecbc9ae15 CLINVAR:102482 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19fa4911-fa07-45e5-a171-37446ef2b3df CLINVAR:102482 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 317c5133-7aa6-4d2f-b6ca-d5c1ad6a4046 CLINVAR:102755 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a9caf73-0b24-4271-a18c-fc0d9082ef46 CLINVAR:102755 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e28d486d-f831-4ca3-a213-4f026cfb9205 CLINVAR:181207 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15ce5d4a-f4fc-4c93-b72d-2b966678a5fc CLINVAR:181207 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67850f06-7977-4ec5-9290-cd9661ee6c7a CLINVAR:181282 biolink:genetically_associated_with MONDO:0008409 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a78b3e8-ecc9-4a02-8237-88443aa7f567 CLINVAR:181282 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e818bafa-0428-4d68-ae5c-b206ad60ba92 CLINVAR:42999 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7438c3b-3a4d-4fe4-8079-09063711c4a1 CLINVAR:42999 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 286c93e5-ee55-43e3-8ea1-1570d493cea8 CLINVAR:181285 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0971ded2-1567-4289-93dd-a0d79d369c08 CLINVAR:181285 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9517aeb0-5e56-4c60-b219-b8d58a7bf07d CLINVAR:14094 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1cf0dfb-97e6-4e77-a4d5-98261fded2e9 CLINVAR:14094 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99c5f952-8186-4a7e-98c9-dec41b1f2655 CLINVAR:14113 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18b9c387-7ff9-4535-bb56-075d6532658c CLINVAR:14113 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9465457c-a16a-406c-847a-3ef66aa550e5 CLINVAR:14118 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de9ea955-ae8a-4301-9bbd-69b4b643632f CLINVAR:14118 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa76f628-0137-4060-adda-7fc87287281c CLINVAR:14126 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c968b4f7-b4d3-442d-8613-ebdd2bb3363e CLINVAR:14126 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc9f38d6-08db-4887-91ca-394a4cbe6242 CLINVAR:418517 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 705f99f2-685b-423a-b66e-790bd32b92e3 CLINVAR:418517 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3ac81be-6691-4268-9bf9-5fc1dc4c6973 CLINVAR:185814 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11fe169c-cf79-4eca-9cd4-33df82cb1d91 CLINVAR:185814 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0d2d588-f304-4dde-a456-fa56f94b8f7e CLINVAR:656751 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1acb250-4691-4a6b-a57d-97b16935950d CLINVAR:656751 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66e75d7b-b795-43d2-b5b7-d13b47a417a9 CLINVAR:186587 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ff8ae52-de39-416b-a9a6-5fae7444fe36 CLINVAR:186587 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7949ab6-3720-472d-8521-5ed373dd4dd9 CLINVAR:142714 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f6328a8-0ef4-496e-a36e-797ab9c1eed2 CLINVAR:142714 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86578de8-0854-4b57-958f-bdcef5e83dd9 CLINVAR:218342 biolink:causes MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c27ae8f3-b174-4fc8-9188-142ceac29626 CLINVAR:218342 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f039583e-fc5c-468e-8a0c-bf22df7f0660 CA397849034 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 503179ee-7728-4938-890c-da6bcb5e46dc CA397849034 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc51bc3a-88ca-4e49-8366-5e4c1719983c CA397832787 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41afdcf6-72b2-4b14-ac28-6e0ca1c98e5b CA397832787 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca42fa5a-29dc-4d8a-863b-49a18809a707 CLINVAR:142158 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9802b953-6d12-4cac-be78-b0caeafe3a6e CLINVAR:142158 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5482ad70-3039-4080-a19a-e5b27b5ca0cb CLINVAR:142854 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1664de8f-c9ab-40de-ac56-8e446e8c18f2 CLINVAR:142854 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3609af3-8b4a-4265-8350-19d4d40cc993 CLINVAR:182933 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7cdd4a8-0a55-4eea-b458-60f4babd57d1 CLINVAR:182933 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2836ffb9-b330-4bbd-8bb8-36175c43dd54 CLINVAR:182938 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 257124fa-bf8a-4ad8-9aee-40eaa12e87e3 CLINVAR:182938 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa861ea-0499-4a99-8890-0a573e48805b CLINVAR:182953 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 080e217f-e77c-4363-b706-27c9bb5fafc3 CLINVAR:182953 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c38281fd-889b-4d9a-bbca-26194a17b382 CLINVAR:187457 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4731b2b-7654-4d99-b0dd-fa162eb8be7b CLINVAR:187457 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3bf8ea3-2118-4edd-bd18-ae998f3cbdba CLINVAR:413774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78240fbe-c4cd-40c8-917a-ccff7ecd1564 CLINVAR:413774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddabd835-36c9-4481-96a6-c8b119df286c CLINVAR:161273 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0f02fa9-fa27-48da-9681-701b4cef55fb CLINVAR:161273 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29b6a789-1c8f-47d8-a6dd-4295234d36c8 CLINVAR:375775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 200ffdd2-0882-4179-8777-97101923d918 CLINVAR:375775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28da3186-4aa3-4c23-ac3e-19756559bcb8 CLINVAR:252350 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f5b9386-0301-444e-a2e6-1f2c2b90ea04 CLINVAR:252350 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75e187a3-dca8-4479-aad0-8a0669efeb48 CLINVAR:3734 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 91448b5e-f9d4-4957-a509-7953845c3299 CLINVAR:3734 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9802d871-96df-46af-b236-2bea7f913fe5 CLINVAR:36462 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bff6d895-f71d-4a47-9ac9-134b8294bab3 CLINVAR:36462 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80149a2d-1773-4e1f-aec0-17a8e03adb7f CLINVAR:252304 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6837f46-7c82-40c1-b679-5394847c1119 CLINVAR:252304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4451bd95-0276-4581-a91d-84d459fa2a95 CLINVAR:3744 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea168243-3a14-4a6a-82fd-66139691c067 CLINVAR:3744 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 579547a4-176e-4fff-9869-1247de5a3e4e CLINVAR:183130 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1afd3446-e4dd-4149-919e-4036c01567a4 CLINVAR:183130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f53d2de-c641-499a-b290-5c88c08292b1 CLINVAR:252219 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fedd60cb-7bd5-450a-8b14-fc6c29d628f5 CLINVAR:252219 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8eccd07-cd35-4160-b7b9-0bd0397f5a0d CLINVAR:252188 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21996a51-dc45-48a0-affc-afae55eabc39 CLINVAR:252188 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91756d44-b14a-4a24-a527-1c6dd7e700cc CLINVAR:3689 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce2ae0a5-3902-4f0a-ac07-fdcb6859effb CLINVAR:3689 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f4e8233-36d4-425b-9fdb-bc60584fc934 CLINVAR:252136 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a28ef641-faec-4eef-be8d-3804adff2c1b CLINVAR:252136 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c97269a9-738b-457f-bb4a-609e85ec3a43 CLINVAR:252135 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ac21df5-9fcd-4b49-a09d-2fd226f8b212 CLINVAR:252135 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b33c0c2-481f-4c85-bec1-2f12f57be989 CLINVAR:252083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc1b75e6-9407-40c3-847f-4ae983a2a0dd CLINVAR:252083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a54465c-7cfd-4366-a7e4-212b439c4535 CLINVAR:161264 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fc54618-93e2-4d5a-8aa9-d166f73bb464 CLINVAR:161264 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd2d1b51-5046-49a7-ac07-98f37950bae2 CLINVAR:161290 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b21099ac-936a-4028-9c5a-1c48975467a3 CLINVAR:161290 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0666609-8716-4834-b243-286ca48e0af6 CLINVAR:161271 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d95297f5-692e-405b-887c-9e4c1f2a8a34 CLINVAR:161271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcb69468-bec7-495a-a221-3e843340db13 CLINVAR:183120 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3143cd4e-cfd6-4456-b269-01c81036f139 CLINVAR:183120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64a89f76-5030-43d6-8179-51d65c1a871b CLINVAR:251783 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df97af43-e2eb-4e28-9355-de8cfc187adc CLINVAR:251783 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72df5a19-57a8-4cd8-9a6b-a9d06a54ecf9 CLINVAR:161276 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b315ecd5-7184-4cf0-8512-5a5c4921a616 CLINVAR:161276 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe75af0-58bc-433d-8702-c39bc60f89b2 CLINVAR:36453 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6c246c7-68aa-4008-9d49-5248a9306dd2 CLINVAR:36453 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1528c1fc-0b59-4c44-b24e-c0c5110c4518 CLINVAR:228798 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 403f37cd-99bc-4c78-a5fc-74d1bb763aec CLINVAR:228798 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef3e65bb-0cd8-4dfc-a525-6e76b02a44bb CLINVAR:3746 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25074137-3bec-4c54-a40b-bfcedc926d13 CLINVAR:3746 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afef94c1-457f-45b2-9290-15bc86dbeb80 CLINVAR:251706 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d34b2e95-4262-497d-8bf0-f9d94e064177 CLINVAR:251706 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35b6ae6b-7d81-4d3c-b79c-094bf4de486d CLINVAR:36450 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c64ccd0f-5039-4afb-9aee-b9772861f49d CLINVAR:36450 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70434c74-c9d2-42ff-bd54-2be02470dc2c CLINVAR:161282 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b29c503e-26ac-489a-a342-f8bf7e6bb72c CLINVAR:161282 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373199db-145c-4a8f-87bf-806e0aa8a2f6 CLINVAR:251517 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98b5d077-83e3-4a31-88e8-5ee355c8a46f CLINVAR:251517 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae70a428-d465-43f7-b5bc-14681e1d4890 CLINVAR:161281 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fdc668b-504e-4531-a783-f34f07cfc64b CLINVAR:161281 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b095f9c7-7112-463e-a048-217521b85758 CLINVAR:251603 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 831a1b50-dec9-4257-9fd1-f219f7f89a4e CLINVAR:251603 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c02a9ff2-0355-4c06-84e0-29a1ebb88ed3 CLINVAR:161268 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9ee918e-7360-4116-a6da-c1c18bd2ab57 CLINVAR:161268 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d55c3e3b-4b6c-44ac-a549-9f2c59aadfaa CLINVAR:251106 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3740e2d0-9239-4d91-9af8-9d8c93b2a9c2 CLINVAR:251106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 939a9b71-214a-4160-ab0a-56eb71ee5d07 CLINVAR:161287 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 088ad106-5f81-431a-adbc-84dfb602d0ec CLINVAR:161287 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3a854ba-d390-49f1-b537-d9fa346ce78d CLINVAR:161261 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7378cefc-3045-4fb0-856c-ba12c610a203 CLINVAR:161261 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc30f917-ec37-4f2f-9ad1-3765460e0919 CLINVAR:251422 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24e57b15-921e-4ac2-bc4e-8cbed9921450 CLINVAR:251422 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d3debdb-bdb5-40fb-a9b4-ad0dd1605d6a CLINVAR:251400 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4ad73d0-e929-4de7-98b6-622a4535debc CLINVAR:251400 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a49382e-6933-48e5-a5d1-e748d90a7136 CLINVAR:225402 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13f2b171-c4cd-4dbd-bb55-5e7ce4e2fccc CLINVAR:225402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec188915-e0bf-42c6-b6c6-a585f95b1941 CLINVAR:251162 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b86d97b9-4009-40c0-b5de-99dfa185ab97 CLINVAR:251162 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b0000db-4b02-466e-b596-0df5fa927d9b CLINVAR:3736 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 391abf8d-9051-4167-9220-9ec355f0c10e CLINVAR:3736 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a31578c3-1ddd-4c4b-a9cb-d433dce1d4b6 CLINVAR:161269 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0ad1208-79c8-4610-99d9-8c2d2c6bdcf0 CLINVAR:161269 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a79cb0a-0f80-4c2e-af40-a8306aa932c4 CLINVAR:251100 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47f115f4-7edd-4f40-871e-5a82fef62918 CLINVAR:251100 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c73c510d-149e-41ff-a269-f7b6bd26071d CLINVAR:3685 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ae8876a-0b67-4824-ad91-8592fb655762 CLINVAR:3685 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09624500-2419-418a-9a72-eadb1e5dbde1 CLINVAR:161289 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25b71ef7-a803-400d-a788-997a15e18999 CLINVAR:161289 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23e3f511-8132-4609-a77f-c72fbb194c34 CLINVAR:251034 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b221aae-d952-4485-ab57-865192df603f CLINVAR:251034 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0a793c3-9b4d-4c1a-b893-d3f816d602b5 CLINVAR:250968 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d0aaaeb-b337-482a-b81c-e54b66cfab23 CLINVAR:250968 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ce02a6-d1e4-40c9-b489-1220400d949c CLINVAR:102610 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94f4d781-88ef-463f-b863-6457cbafcc34 CLINVAR:102610 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eba03de-32f2-4a31-b852-456d271bb580 CLINVAR:102627 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 80e3fde2-1387-4ee6-88a4-c37e2429ee5f CLINVAR:102627 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e995e06-cb4d-471c-b4f6-e3f9d91dbd7a CLINVAR:102766 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b8332e6-26cf-481f-ab9b-d48b81f72f28 CLINVAR:102766 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01adec89-7356-422d-ad96-44bb11614a9e CLINVAR:102488 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9892b341-21db-4408-812a-bcbca1e78098 CLINVAR:102488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfc8c1fe-1670-4ed3-a30d-1b01ec4e9753 CLINVAR:102521 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85217cf4-694b-4ce5-9820-4b8a5fb00223 CLINVAR:102521 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4c51577-d372-4c6f-81f5-ccd9cd778094 CA16020794 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c3d566c-6f6d-4a42-8046-79b178f7b1c6 CA16020794 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59b1c1dc-dba0-456d-bbde-1e79291d8d08 CLINVAR:102600 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61918e09-71ad-4d2e-bc05-fc953945d6e7 CLINVAR:102600 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43ca9238-895b-4471-9222-c12413ea202f CA16020963 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9c35b269-7a3e-44f0-b5f5-c25d7bebe902 CA16020963 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b764453e-825e-4ebe-a38a-23a0699821a7 CLINVAR:556817 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03468502-9ef0-4b81-bc9b-b2f220350853 CLINVAR:556817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dcf96db-2c89-4200-95f2-1c86b0a540b1 CLINVAR:14121 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db6b99f4-2b1b-413d-bace-184923857c97 CLINVAR:14121 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9700eb05-da54-4fe3-9dd7-d5624bd21281 CLINVAR:214322 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e80697f1-8df8-4d60-ba0f-5e0cf5a78b49 CLINVAR:214322 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b906701c-ccca-42d2-8fa5-a6b6b04c81fc CLINVAR:496427 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d89760c2-9bf8-40ec-87c6-70c7194fc414 CLINVAR:496427 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8950294-b3d4-4343-a2c5-9a5cd56c0731 CLINVAR:504502 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd64503f-ecd0-4db8-8862-4a54bdd421c0 CLINVAR:504502 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4beb475a-67bf-43e0-ba0a-3e195ac98165 CLINVAR:1210168 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e00a17c7-5305-4018-ac6f-6af1d092d256 CLINVAR:1210168 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f9dd1c-8e7a-4eb1-a235-da0f3161e008 CA772541579 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37b7d77d-f74e-4bb7-a008-1d15b92d85c2 CA772541579 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5396254-4623-4d05-9795-c0931594afdd CA290954030 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d9005e1-d344-4390-8bae-a57d63d05e15 CA290954030 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ce483f2-accb-41c5-b38c-875a721e1282 CLINVAR:627288 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ceb498c1-9984-4ffa-ac39-42b3bb587d7f CLINVAR:627288 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c499e753-b30e-4cf7-888e-715e3e409362 CLINVAR:13568 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98809ead-0af2-40f3-b2b5-43da704491a5 CLINVAR:13568 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 368efc59-2af9-4b33-9960-a8a1796f4631 CLINVAR:1210185 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03c86d24-4057-4ef2-959c-38641549b30e CLINVAR:1210185 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a9465c2-0b24-445c-89dc-2fada3d403f9 CLINVAR:695644 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91139337-c9d6-4a08-a67b-18d8e12b4b28 CLINVAR:695644 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7c48bf0-f4fb-41fd-976a-c3fcd662a0b1 CLINVAR:13569 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65a54280-c391-417e-8ba2-b114a690e129 CLINVAR:13569 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4318f7d6-e318-45c4-8c22-bf131997be6b CLINVAR:1210201 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb15e4eb-e098-41e5-a0c1-a3c5f018f10f CLINVAR:1210201 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a056001-1567-4bda-aa47-c5110d24e6f6 CLINVAR:627052 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39a5ea4a-45f5-4bcd-a484-17b10f883db1 CLINVAR:627052 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d3c0339-681a-4962-90b7-379074ee2a31 CLINVAR:1210202 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da4e12fa-8f85-490f-bada-1def8d465761 CLINVAR:1210202 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5464ebba-7c72-4297-a6c2-5f2ed3cbc4ff CLINVAR:977130 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6e75ab4-7fc6-493f-b7ae-6699bd3cc030 CLINVAR:977130 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc08d63c-b635-4c7a-96ad-dbd44377dff5 CLINVAR:13555 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b9f9f08-56dc-4f92-aee4-37a4ba67ac3a CLINVAR:13555 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e5c7a3d-eca5-406b-a088-11a0c7ecc08a CLINVAR:13553 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b4d9c3d-7485-464c-8c6e-67971ae29842 CLINVAR:13553 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ee5484c-e2a0-43f7-b3b9-c4aafeaea820 CLINVAR:1210203 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61b93f90-d5ec-428b-8e49-027e79fd2ce6 CLINVAR:1210203 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4def568e-20d6-426d-a0d1-8e7a6d1f185e CLINVAR:977129 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f436178-a763-4cb9-b321-bf347f4f4b49 CLINVAR:977129 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37efb117-5f45-48ce-b93e-324eaba44b23 CLINVAR:323865 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3c7e53b-c4a7-4589-b441-6640c6e7fb83 CLINVAR:323865 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e87b26e3-8dc7-4790-9a62-dd3da5642803 CLINVAR:1210206 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f069f91b-54b4-469d-8660-8b5622b202d4 CLINVAR:1210206 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8572f9c1-6302-42c8-bdd8-95ef5ade72f8 CLINVAR:556718 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d0053b68-bf4c-40ca-9c70-b99d05d447dc CLINVAR:556718 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4111d3ab-379d-440e-9688-589c9518005e CA915940722 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01e44ded-3cee-4d5e-80c9-5d2195620c85 CA915940722 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9509a6d2-e40d-4c22-aff0-e8103525dab1 CLINVAR:1210169 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 029ef479-8909-40d8-bc69-f4f77d6d4370 CLINVAR:1210169 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc0fe39f-1d98-48bb-a8ae-243a64026a4e CA400023704 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38680e8f-a538-4d34-a615-77ce1de00821 CA400023704 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31c87f52-6191-4d4d-bf70-4331254bd06f CLINVAR:1210171 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e569fbf0-b388-4648-b3ce-20706e847019 CLINVAR:1210171 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79f7c55c-5695-452b-a868-de7cf5013338 CLINVAR:1210172 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3dd9b800-6334-4d0b-a1c2-6ef5449e1474 CLINVAR:1210172 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8201b554-b76f-459b-b46f-d33a35e0e7cc CLINVAR:1210173 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 809e87c0-ba66-4f5b-8dbd-2e0966548ff3 CLINVAR:1210173 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dafc8afd-e602-402b-97bd-71679c26ef2e CLINVAR:1210174 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75dd117d-0988-4623-9937-790366b1e9ba CLINVAR:1210174 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38df5adc-8d73-410f-9d40-e160a96db5cb CLINVAR:1210175 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a75030c-8bf1-4f26-87cd-008e44f991fb CLINVAR:1210175 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16e56fce-be94-4e8c-8bf2-08355dda3aed CLINVAR:1210176 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6688c0a4-950e-4274-aad3-f62df7971120 CLINVAR:1210176 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2793b7-ce5e-4f3c-9847-02f6c23a4de6 CLINVAR:1210186 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8f4f47f-b6f3-4c76-9ae1-5a9902eade80 CLINVAR:1210186 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34785a2b-1698-44fa-95d9-28b8cc1c62ee CA915940376 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c12bc113-4d8a-4e38-9d60-91bba69dc621 CA915940376 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 564ec18f-bd03-4d66-8b12-0716845840fd CA915940375 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09b22991-1de8-42fd-af21-8183dadb5986 CA915940375 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a55a2af-b07f-42b2-8890-51cc3780eae9 CLINVAR:1210188 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ff36b45-a8a4-42b9-ae91-f9fdbce5a0a0 CLINVAR:1210188 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8365e081-82a3-4d51-99b4-c7c9dafe38fd CA915940723 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4decd4d-6b70-4a4b-962e-f40d381bc5dc CA915940723 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 536b7b24-aea6-4390-9509-f64817d2c2dc CA915940724 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f21e2797-c1f0-4d2b-9e64-4b2d1a3703c4 CA915940724 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7488b32-22ce-46d7-ac83-c5561b0af56b CLINVAR:1210191 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d2e23a3-a4ad-435c-85fc-898695fbc5d4 CLINVAR:1210191 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 987abdbf-39b4-417f-aa3c-29c15135f264 CLINVAR:1210192 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a13f239f-92ec-42d0-ae26-2a1a9796642e CLINVAR:1210192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 198113f6-038a-465c-b98f-59f32604601e CLINVAR:627239 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25e5e528-e658-453c-9781-451782cbd42d CLINVAR:627239 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b77d9384-a6ee-427f-bad1-5e74b7dc130b CLINVAR:2902 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 795b02a9-156a-4c55-8181-fec780dab005 CLINVAR:2902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25bf5596-c5f8-49af-a780-4f7eb98adc62 CLINVAR:631773 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1228f0c0-84b8-4449-885b-3204d583c496 CLINVAR:631773 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afdb56fe-d38a-4e09-8d44-b8117e8751b7 CLINVAR:977127 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3f0f9c8a-b8bb-4624-b0c2-28500b517d79 CLINVAR:977127 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 887e9bf6-b31e-4100-8d6a-e7d10fb45675 CLINVAR:971253 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b1d2873-4a0f-49e2-afdd-acf973d41f8b CLINVAR:971253 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 561a13bc-b060-4a02-a3a5-72e637d19607 CLINVAR:627292 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0e489e0-628f-4085-9e97-b1626620a597 CLINVAR:627292 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a31597cd-5ebf-4315-a017-e16b049369f0 CLINVAR:1210204 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4fb236f5-845f-465a-a621-32b9efc968c3 CLINVAR:1210204 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333a24c4-9bb0-4de0-8d58-512924fadb9d CA399803781 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1feac95-ce72-4627-83a7-2b049115b70e CA399803781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3f3324d-e255-4c20-88fb-9e767ce8e406 CLINVAR:458368 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e801b14-cdf4-4097-a3bd-5e2a8313ee64 CLINVAR:458368 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68c67274-9589-4b39-8836-c88b88339104 CLINVAR:627093 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e2d9dc6-6c6c-41de-869b-9b9e2944c380 CLINVAR:627093 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc215741-09df-4f38-b876-70256e01380f CLINVAR:977128 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9da22e31-d6ab-49ca-951f-4cd5d56236a1 CLINVAR:977128 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c5a294-b0b5-4eba-b09c-f8a19b2724df CLINVAR:2889 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a24b08d6-a4dc-4eea-a753-02956fe34221 CLINVAR:2889 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43afa613-d096-4b41-843d-d3f5cfe3610b CA400033218 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13b213a7-8f29-4c9d-bbe3-8825ff78ecfa CA400033218 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 042e4eca-f1e9-4abb-a3cf-6889bd3ab618 CLINVAR:1210209 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c54d7d9d-8a93-484f-9a82-9cd8c47a6462 CLINVAR:1210209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16a9455f-b40f-413e-9b61-cad9a70af9c1 CA291224645 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1581ca55-5db0-400f-bef9-39fd5409193f CA291224645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d78d7e1-ecd7-4ef9-a9e4-abe10c36c998 CA400023604 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85681cba-ff6f-40d7-88bd-95958e471524 CA400023604 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66f2f90e-859d-49fd-9cad-63abc7346273 CLINVAR:800945 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9f9f70b1-c2f2-41f8-9fbb-5004da1d30b1 CLINVAR:800945 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d4c079a-8d74-473d-b8f2-80403d3a24d7 CA915940593 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e56cd9ab-f0d3-4f5f-b626-d3fd2a02a68f CA915940593 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a70af8bf-6f3b-4612-9535-79ec729f99be CA290947484 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 774bdee8-6c69-42bf-91de-1c80ae3a26ad CA290947484 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aa4b20d-99a3-41d5-a514-65f8381aa9e6 CLINVAR:1210180 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 121b6939-3735-4161-aca9-7c2f6c7c8596 CLINVAR:1210180 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23c5ed3b-2040-472c-a50f-04d204f24c20 CLINVAR:1210181 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ae3b2f5-739c-423d-8bd5-7c1eaf39d3e3 CLINVAR:1210181 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cac8cbb-36a9-4b59-a35d-cab3f2c3bc18 CLINVAR:1210182 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a32994ca-2fa6-45d5-b66a-0e2c3982ba34 CLINVAR:1210182 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e8ab49-3c72-4f14-81b8-fb7aa20d0a81 CLINVAR:1210193 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ccab714-ba5c-444d-9b4e-1e131e806641 CLINVAR:1210193 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b164641d-457e-4cef-a054-356effc23142 CLINVAR:952998 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b96d87df-030e-47d6-89e0-9a3cc6978c45 CLINVAR:952998 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de90c78f-a888-481e-961c-a742da3ef0ca CLINVAR:953028 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8242b1dd-de88-47b6-960d-198910f7e666 CLINVAR:953028 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 007124e9-9a41-4e25-8b4f-cdfc59bb1ce8 CLINVAR:953032 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d3dc25a-c2c7-410d-9adf-dea3496e5815 CLINVAR:953032 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4939e4f-fe49-4435-909d-4592e93f6cac CLINVAR:2903 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79a2729f-3c36-41bb-9417-00ecc1d5ed9a CLINVAR:2903 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed5c80d5-4fcc-4c74-a633-86cf8c968bef CLINVAR:627296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43b3fff1-69e2-4c9a-99b4-5b3ed5df3370 CLINVAR:627296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90e94d8f-dc7b-4f82-a07a-df67aaa70856 CLINVAR:953037 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 04cb6259-eae0-4074-ac30-ad8439fe12b1 CLINVAR:953037 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fe43213-d5d9-468f-a0ba-c590b5a64677 CLINVAR:13564 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62a32db2-fff3-4892-8490-8372c6671c1b CLINVAR:13564 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5d03532-d005-466d-bb37-cf78af8eb047 CLINVAR:953016 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b71ccd6-f0f7-4ab7-86c1-1435749eeba0 CLINVAR:953016 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8652c03c-9f15-470a-8cd6-f33e3fdb0005 CA8623361 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1aa96c72-20f4-4d41-9770-454becf71349 CA8623361 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf12768c-fe42-4b51-b6f8-d5ffc8be7940 CLINVAR:953046 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb0bc20c-d98b-4aec-a03a-91c0f66cbe61 CLINVAR:953046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd4cb289-40b5-49f0-95c8-d1c535fae576 CLINVAR:977132 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e15b606-6cea-49f5-b65b-2551b879381e CLINVAR:977132 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c72bf852-6d3b-4548-ac1a-a606304605a3 CLINVAR:1210195 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e20b7021-1cb1-4227-93d4-49fa578eef4e CLINVAR:1210195 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3c18161-24ef-41bf-9f75-d9ac060c6482 CA915940296 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 645c00aa-4219-4f26-9fe8-eecd9d164929 CA915940296 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1a38c74-6a7a-4e5c-91fe-fdda1150a451 CA915940787 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bf0bc0a-dc4b-485a-b78a-e339cd17ca73 CA915940787 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30fc80c8-e359-46e3-8067-d1fd5dc1d8bc CLINVAR:1210198 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 934a759d-aa2f-4986-8daa-4ef2d207508f CLINVAR:1210198 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb053011-340c-4e98-ad93-6843870b64c1 CLINVAR:850886 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8165cad-c3af-4267-9828-38ac62128b00 CLINVAR:850886 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b9a242-eea3-4d89-83cb-8383d031201b CLINVAR:1210199 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 43e6cb65-f2b6-4ee8-96fb-6ee38c8b4cce CLINVAR:1210199 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed9c175f-b260-4b58-b8df-0e2f068e6123 CLINVAR:1210200 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb6b472d-dcbb-4f22-9084-9a9126ee9eba CLINVAR:1210200 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fc45a8f-7c64-4941-bfb8-9a0ba413ba15 CLINVAR:2898 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d088f486-e004-43b8-8556-cbdc82a78b9f CLINVAR:2898 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b67f3421-6476-4f7d-a6fb-59a9b11b36fb CLINVAR:2894 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0a2ec28f-255c-4e01-b27a-ba16cef65573 CLINVAR:2894 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c234e711-779b-4f75-a753-3c5678613f06 CLINVAR:854735 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a61133cc-b507-41c4-9193-0429fa93c035 CLINVAR:854735 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b65170-d82f-4c60-a715-43761537f40e CLINVAR:13567 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0abc6a02-d5b6-45c9-a879-2c0502127062 CLINVAR:13567 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 327d8933-8062-4252-bd8d-c9368a54293a CLINVAR:1030781 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f393bc7f-47c9-49f5-bcaf-c7bc62f0fea7 CLINVAR:1030781 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02e8a44f-cf35-46f6-9ed0-308b90c354f9 CLINVAR:627273 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2831e163-75d3-4ca8-942f-f3c1e2138bcc CLINVAR:627273 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8e71b64-e118-42e9-a823-daecc68a3b11 CLINVAR:1210210 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb25f083-2f7c-40f3-98d1-081d5d53b58e CLINVAR:1210210 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf241ca-2bcc-44dd-aa80-e3afce06570b CLINVAR:323569 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1dfa3e14-a163-4f14-a3de-ecfba877f612 CLINVAR:323569 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1707aee-cb75-48cf-97b2-690e6d0aa661 CLINVAR:2899 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 167a7896-744d-4dff-bc2e-e84fb13c5bc0 CLINVAR:2899 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4413306c-b0fc-4458-973c-0d297600441e CLINVAR:181368 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57d1aa15-6f51-426c-8217-ade3174d330c CLINVAR:181368 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 994aeebf-157b-4a9d-9dc3-21408e7b87ba CLINVAR:42826 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3fb491de-f640-4d59-931c-f71c0d8eeb37 CLINVAR:42826 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5ae1f87-5704-45d2-904a-e099785c1efb CLINVAR:43100 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a10de712-3e58-477f-b750-2a05524f5d90 CLINVAR:43100 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e62db061-4b5a-4cf6-a896-38102d7e97c2 CLINVAR:181195 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37d5212b-3427-4264-ba7b-8f3db74f3914 CLINVAR:181195 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b5550fd-4f0d-4f04-bb46-b4c54869860d CLINVAR:217468 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b1b8a1e-6290-45ca-b14e-bb5a8ae88fa9 CLINVAR:217468 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb72d67b-f3d1-4a0f-ab4b-b3e48b7d86eb CLINVAR:164289 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dcdfe6a7-e7c9-425d-85cb-f2bd3b2a5afa CLINVAR:164289 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d274a25-da86-4087-9829-6041cfc54d1a CLINVAR:14093 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9130b38d-e014-487e-9501-cb3e71ad4f0a CLINVAR:14093 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e132ae9-fc35-4d63-80b4-57c9b7018033 CLINVAR:36638 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e312ddb-bcd2-484f-bbec-29345d8a6a3a CLINVAR:36638 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b95ba84c-6721-4a5d-b588-079a16116758 CLINVAR:42818 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae678521-50d1-4e86-a41d-6a92567581c1 CLINVAR:42818 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9720f1fa-5005-489c-bb3f-5c97eb8a691d CLINVAR:36637 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c8e158a-685b-42de-bc75-42ccaffec93a CLINVAR:36637 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7898fd59-425a-45f7-8698-f820abd3560b CLINVAR:133165 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ceccfe5b-72f2-4299-8402-2f31881324f2 CLINVAR:133165 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7551f4b4-75c2-49fe-beb5-0cc73d962d5b CLINVAR:374974 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36ad1bde-463f-4af0-85fa-361850034c6d CLINVAR:374974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30ddf8d2-d957-4050-9e4e-e4e3ce00cbc9 CLINVAR:590517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 490a1918-6f17-4c78-8dc7-1dab2ae96eb4 CLINVAR:590517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a47a4e-7de3-4e98-b5ea-7473c3eae2da CLINVAR:133168 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7eeb5684-5f06-4157-836b-d3c98a5f675a CLINVAR:133168 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9a136b2-a909-449d-99e5-2c2d59216054 CLINVAR:590482 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0203dd4-4af1-4553-86d6-e99d4ea0e487 CLINVAR:590482 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6699eb4a-2e94-4f41-bf85-8471a235b564 CLINVAR:1050940 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 100f41fe-c31a-42c3-ba2b-774241e9cee3 CLINVAR:1050940 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a77483d-c521-4bed-8188-eb88610dc254 CLINVAR:808527 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b562cb12-00d3-46ad-992b-48ba33eb0f82 CLINVAR:808527 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe16fc97-2313-4dd1-b754-e570b898e247 CLINVAR:133146 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 603b68e6-8a6d-45a6-bebd-ce0418aa05dd CLINVAR:133146 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e240edd7-cefa-467b-830a-cc6bcb5f20c5 CLINVAR:889434 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 134edb27-31e2-484e-8389-22257f6f083e CLINVAR:889434 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5329f3d1-f24d-430a-a66f-b860e9671b6e CLINVAR:133166 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 926fa1dc-00da-4b0c-b9d0-13f0493eb142 CLINVAR:133166 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0dbe8e9-d9d0-4595-b5eb-a6337a3652c1 CLINVAR:478249 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1356ce1b-b217-4fb5-81a4-c6215d475dda CLINVAR:478249 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e2e3c3-d00e-4d18-81ec-f38cbbe372a5 CLINVAR:1210307 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51008b02-d564-4bcf-b529-fab7aa17b4e0 CLINVAR:1210307 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f03a6b8-be93-49a7-8142-07bd77413057 CLINVAR:1065119 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2a93010-a676-4f2a-aac1-9451fd5b17d0 CLINVAR:1065119 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ecd05fb-8aca-45c1-a044-cc54982092bf CLINVAR:590575 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 543bf536-ce59-45de-b7e8-82474a61de5e CLINVAR:590575 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44b052da-a268-4163-9abc-5c8979e1a685 CLINVAR:65968 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e7d6704-843d-47bb-90cc-a90e4b70c632 CLINVAR:65968 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29d8c722-ba30-4cb9-895f-7e3bf723ac3d CLINVAR:567662 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4ec7f34-27e4-4b1d-b96a-d958adae0662 CLINVAR:567662 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c96cbb6b-5752-4f42-be59-4ea737430602 CLINVAR:590454 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0d9d4ea-3c53-4007-8456-e841f9571262 CLINVAR:590454 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c59cb23a-8bc9-44e4-920f-38c6239c2de1 CLINVAR:590556 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b784710-20ed-4fa7-ba6a-54405a40bcb1 CLINVAR:590556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b55c359-af65-4dfe-af88-10e96aa1125e CLINVAR:133185 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9be09e18-2bea-4607-8d05-f274ed140588 CLINVAR:133185 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3bf02be-ef17-40ae-bafe-5d1f388ba26e CLINVAR:133179 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7cdded28-a05d-4391-bd65-f3a108276d61 CLINVAR:133179 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fea0a71-b1ce-44db-bdc6-42bb7cc08cf0 CLINVAR:167614 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef4ab683-06e4-412a-aace-b9dc94ed37a3 CLINVAR:167614 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b46c08d9-d832-4a2c-992a-87727fa45eef CLINVAR:133081 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca27b6dd-73ed-485a-b77a-5029b1b141c8 CLINVAR:133081 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d87ebec5-c4c0-4b47-bb46-da480a5c1bb6 CLINVAR:590580 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d42d7320-e2c8-433a-bdfb-171931dd45fc CLINVAR:590580 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a7944c-423c-49c6-86a5-5cf4aae64a3d CLINVAR:1210316 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 10f59279-43e1-4513-95ce-4f46535b068f CLINVAR:1210316 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0928a6-a9ca-4ca4-afbe-64c947fdea84 CLINVAR:1210317 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a668f87-cec6-43f7-ab67-7c5080529f73 CLINVAR:1210317 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 915382ac-7fd0-49b1-89bb-a4e0e57c6ee1 CLINVAR:133172 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58e528da-8270-4bc1-8018-0edd34ce441b CLINVAR:133172 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d0b841-81c7-4ebe-b64e-4af30249d13e CLINVAR:133126 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18dc81f2-c92b-4177-b3cb-c05db7b5610e CLINVAR:133126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32111fc2-1f09-452d-8d42-aafa209c2d62 CLINVAR:133018 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8dbfca27-276e-45ee-9728-0726f3ddf304 CLINVAR:133018 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b6e836-8e60-4440-8f9e-883971885eda CLINVAR:133124 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54178706-edb7-45f4-b153-4713d33d4e40 CLINVAR:133124 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca3f7cc1-fdb0-4af5-b404-816337c54368 CLINVAR:1210308 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b174e57c-6764-4135-9ab4-d302b03ba15a CLINVAR:1210308 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b98063a-8b7c-46c2-832c-db0bc17eab65 CLINVAR:133135 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bcc7365-1d1c-4609-9d5d-2cd02a2c6ce8 CLINVAR:133135 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe1404cb-937f-494f-a2e8-06599485aa3a CLINVAR:1210309 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4dcd795c-43bf-4bd7-9a30-400e41ea081a CLINVAR:1210309 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1a6f8bc-65c1-4fe5-8426-16a01901468a CLINVAR:133145 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b384777-68a7-4dfe-86f3-7334e8aa0cde CLINVAR:133145 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0931329-c07d-4494-b736-7f9ce507d254 CLINVAR:133150 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 185a828c-dce5-4404-b9b3-b19dd40f0412 CLINVAR:133150 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d1c8000-4063-4b30-becc-43a35ca30707 CLINVAR:1210310 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96b00d6e-319d-452f-9a4d-0ffecd3c644c CLINVAR:1210310 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b4d6982-0097-47de-a208-db5588264f93 CLINVAR:1210318 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 595b5a8e-22ba-436a-a3c8-7ab1df400fa5 CLINVAR:1210318 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c349786-eee1-4fc6-ab12-08a233e125ed CLINVAR:1210319 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51972308-8a45-4af4-acb3-9845a3953b8e CLINVAR:1210319 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ced28df3-4c00-40b6-b532-e956b97a274c CLINVAR:133158 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36660ee2-489a-4795-aaf8-bd09b3b31dcf CLINVAR:133158 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0598fe9f-f571-406c-9f09-9ac914607842 CLINVAR:133161 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb0bb062-8e82-4f12-84fb-a105acf398e7 CLINVAR:133161 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9305fb6c-de3e-4582-bcb4-c4dcd95cdcc9 CLINVAR:1210320 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25b1cb97-be87-49b1-8227-5daf7699efa9 CLINVAR:1210320 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3f6b113-ee0a-411c-acd7-175ad6074912 CLINVAR:133157 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 229f9146-16b0-4d7a-b429-8f8da4c67672 CLINVAR:133157 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 691f7458-10f8-42e0-8e19-c179fb63345c CLINVAR:133162 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d357e9f5-56f1-4ec4-b826-1745f3e4cb39 CLINVAR:133162 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3639b208-ad7a-4d47-9a7c-47087c1d001a CLINVAR:133159 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 191dbf41-8a0a-4c2b-9859-b60c7d6e2a61 CLINVAR:133159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863970c2-b090-45dd-8a4e-35775de5cdf1 CLINVAR:133017 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 987d4c9d-9b87-4c81-afb8-e68830cc9fa4 CLINVAR:133017 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9928427e-856b-4301-bc18-7d2154995fdf CLINVAR:1210298 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 132b5f0a-dff3-4826-b56b-4b01701b5272 CLINVAR:1210298 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6d73bee-20c9-4556-8499-7af79edf6978 CLINVAR:1210299 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18d47625-dbac-4a58-8bab-8779107d80ed CLINVAR:1210299 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df642784-e35b-4419-bad1-d7b8b0788bac CLINVAR:133156 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58e134a0-1b54-47d2-8f71-46066644a388 CLINVAR:133156 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd6dcbd1-62c7-49a5-90ce-0ab46cbfbb10 CLINVAR:978526 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78daa8fe-d739-4d0e-86c4-d903e49f8c8d CLINVAR:978526 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 017a92b6-e5bc-42b0-bbfb-33119f88a6a9 CLINVAR:1210300 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4acd9c25-02c4-43db-8009-102848ea584c CLINVAR:1210300 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde047f2-3815-4576-9755-6e7f1ddcf1e8 CLINVAR:983140 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db5781d5-bb16-4d3d-8749-6dc58eec1da2 CLINVAR:983140 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4966df7e-02b4-47fd-8c29-7cc510a4860b CLINVAR:133104 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49f33a91-a0cc-414c-a867-1974aa130067 CLINVAR:133104 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 976c0492-0af4-4ffb-b993-9d51ec6a0501 CLINVAR:1213684 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 731590e9-f984-4e8b-bef4-b4ff4e0a75bf CLINVAR:1213684 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efdba173-8376-4b8b-a1df-64681c20d817 CLINVAR:1210301 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80814f29-f768-40dc-be26-c7cc48128eea CLINVAR:1210301 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2daceb21-9f19-46e0-ad11-fbaa3b9ef407 CLINVAR:1210303 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63f7693e-9b83-4265-a0e3-29b5b7263866 CLINVAR:1210303 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37ae555c-ec46-4264-a68e-186d118db6b7 CLINVAR:1071064 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6bc84f28-256f-46ff-95d3-fa9540dd5411 CLINVAR:1071064 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4dd55c3-4fd8-4f55-837e-1d20a839f7b0 CLINVAR:1210304 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 946a06a9-033b-48e6-83a6-7a9998edc6bd CLINVAR:1210304 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b71cd7c1-72c2-45a3-a4be-a4ee561496d7 CLINVAR:1210302 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3092238f-9209-4f67-85e4-5a88cffbf139 CLINVAR:1210302 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3dd5152-2886-4274-a508-7ea63a5d6669 CLINVAR:1210305 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a5be67e-fd47-4917-b6a7-039d50b4271e CLINVAR:1210305 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132c91fb-ec81-4834-885b-d50a88ad6bc0 CLINVAR:1210306 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56a2c366-b92c-4b36-89d5-9e5e8d3590e2 CLINVAR:1210306 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b43af4a-8476-438e-9941-37ed3281b6fb CLINVAR:1213682 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0028c38a-ab5e-4c7c-ac24-07cde9542def CLINVAR:1213682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd32405-8b1e-46c2-a41b-a9ea623489d4 CLINVAR:1213683 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7399525d-9840-4a32-959e-c235ceef3b8d CLINVAR:1213683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e6ec34f-f999-4f19-a194-30c47c8ec788 CLINVAR:1210311 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad251b5c-fb22-4164-b4c3-ca291bf00291 CLINVAR:1210311 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26a47b7e-50e9-4e6e-bfe4-976e361903ea CLINVAR:1210312 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7af3a7c2-c78d-424e-8e97-671e4d13d0dd CLINVAR:1210312 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720d01c6-eb4e-4636-8216-2219977a7f9a CLINVAR:1210313 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddd31d4a-6124-4113-a784-6011d0564e2c CLINVAR:1210313 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd121c44-c674-426e-8765-b116a85559de CLINVAR:1210314 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ed552ec-c122-47f7-b919-4523d05e9adf CLINVAR:1210314 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60484c4f-27bc-4459-92c4-c660e07b6fe5 CLINVAR:1210315 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9568788c-25c4-4e1a-b1de-ae8db7e044c6 CLINVAR:1210315 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf4fa161-dcb1-458f-8748-12035ca58f03 CLINVAR:1004840 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 457e0714-d80d-434a-b302-b823462faaea CLINVAR:1004840 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80fd18f1-e334-44c7-89a8-10f92af425dc CLINVAR:329032 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44921458-fd28-41c1-8daa-7ee1d54b1f33 CLINVAR:329032 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 294caa18-6dfe-43ac-a66e-aab98fa7ea22 CLINVAR:329033 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 603fd8d9-0292-4dab-8d17-f36406047302 CLINVAR:329033 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e129b1ad-d144-4985-99b4-33f23af53d80 CLINVAR:1213825 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b08d2fd8-e74e-4a6f-84a5-c6687db11580 CLINVAR:1213825 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 813fd07f-0357-4fd2-9229-cc96d30845a7 CLINVAR:544383 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78b40627-4cd2-452b-b276-47c5756f5811 CLINVAR:544383 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01967833-198a-43fe-b29f-777123c77ab2 CLINVAR:1009683 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa85e6e6-cc2d-4f46-b26c-58e2f7af2ccf CLINVAR:1009683 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 184336d9-8de4-4ea9-ac65-6abbbd1f827f CLINVAR:1213827 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e891782-566d-4911-b153-3092dd1732f3 CLINVAR:1213827 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 808ea1f5-632c-4186-ba26-59fb2a372676 CLINVAR:544517 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8696786-d50a-4ee8-93c6-551e302235f8 CLINVAR:544517 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f9c0a6b-aafe-40a4-9216-f9972a862a04 CLINVAR:1213820 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b53c4918-a43f-48f8-be14-e0c374f1139a CLINVAR:1213820 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19d97149-928e-488a-aefc-393dce9d6dc9 CLINVAR:590571 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d328683d-3695-4014-bf6c-deb0f17a4c1e CLINVAR:590571 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a560124-aba0-4a73-ad8f-9d89e3e8feb6 CLINVAR:133163 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3ec4d6b-ac26-4085-979a-0cb5783676b0 CLINVAR:133163 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc1b0d8a-3b4e-4cab-b10e-1c753a94f049 CLINVAR:568713 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f7812a5-d7e7-4864-94c8-a2444b284b4f CLINVAR:568713 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7198737-1c32-42b0-8402-f0727537eef1 CLINVAR:590574 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3940ec34-1b84-4006-ab12-d7c42abd7362 CLINVAR:590574 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f50e9316-284c-465b-a966-c318b23abbd3 CLINVAR:1213821 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8af5860-6036-490c-aacf-8d7d46063714 CLINVAR:1213821 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42598dee-9f93-425a-92a5-2df275c6c215 CLINVAR:133178 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e7291f7-e676-4f08-b14f-3ce0603d9f71 CLINVAR:133178 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61df8d45-3531-4a6d-8a97-c89897cea6b1 CLINVAR:133181 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b746c359-ddab-4d2f-899f-20348ab42baf CLINVAR:133181 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d49df172-d0b0-435d-a749-25d4732c568c CLINVAR:133184 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1598834-ba09-492a-aaa9-caaac17c5684 CLINVAR:133184 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b54f9b08-4c1a-43c1-8ba3-83cd346ffb5c CLINVAR:544455 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de5e85eb-4438-4b4c-8a46-28f06a575c81 CLINVAR:544455 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4df51590-823c-46f6-9872-67baefe21609 CLINVAR:133077 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9b54181-8b9e-4bfe-a54d-b3d1703164f0 CLINVAR:133077 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e48c86ec-2e51-47e8-ae2b-7ce300a342ac CLINVAR:133082 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e47136d-f57a-4742-9655-2ce44505ed16 CLINVAR:133082 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc276e5f-653e-4340-8c28-202b8c579e91 CLINVAR:65988 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0c604ac-a476-4668-b790-0531254b1fec CLINVAR:65988 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99cedb40-c997-4e89-a5fb-6679cfcc50f3 CLINVAR:133087 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b237fa3d-ffe4-4d6b-b4b5-2c7efcc0e288 CLINVAR:133087 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8765db44-c704-4a50-84c6-1127b1043991 CLINVAR:65955 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82c49819-d464-4cd4-b750-a7e3eef3e030 CLINVAR:65955 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13f85c2e-902a-4c12-9954-c4e592f8dfc9 CLINVAR:1213822 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19020a48-9639-47a8-a47b-ede6409ea8b6 CLINVAR:1213822 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4520616-afb0-4d55-938e-20734154395d CLINVAR:1213823 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f038cbf-24d8-4c28-a57c-691be684952c CLINVAR:1213823 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b23dc11-e4ba-4623-b109-e29bf6fe7725 CLINVAR:133075 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc912d27-0141-467c-9636-eaf64d27552e CLINVAR:133075 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4541887a-ee30-4761-a6ef-717e033f687d CLINVAR:1213824 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 052adb5c-cb70-4026-8dd6-10daa896a4dc CLINVAR:1213824 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd16888e-7b7f-483f-97b3-563f9a3bbec1 CLINVAR:590472 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61d98e42-7bc6-47aa-9d3d-be79d2b4ead5 CLINVAR:590472 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13da0cfb-ec55-4721-92ba-57656f5c77c2 CLINVAR:102675 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a168fe4f-d725-41e2-b6b8-e97385cea96a CLINVAR:102675 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e9c5518-371a-4398-b5ab-dbf3656c9dc4 CLINVAR:102768 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55312ffe-647f-4c6c-a018-4801719acde4 CLINVAR:102768 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba0f27fc-0dcd-4d5c-9242-61142635e735 CLINVAR:1327560 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a45bb21-9752-4219-8045-a408c5ee8183 CLINVAR:1327560 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8877854f-c419-4ee2-ba8b-0e67175a0cd7 CA16021003 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 060021aa-cd73-4699-949b-4e626ec4c6cf CA16021003 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c557ce03-7da6-4479-9db3-8dbfe909cd55 CA16020936 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8b83ba3-f7da-4f13-8072-1cd24db83eb1 CA16020936 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f77cc40f-3865-4905-bbbf-2190118d1d12 CA16020941 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49fc92eb-21ac-4caa-b0b7-04a75a9eb1ca CA16020941 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33e26f19-a623-447b-aa15-442391ef122c CLINVAR:102860 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36a7dd7d-a7e4-46b7-91ed-61d5761ad259 CLINVAR:102860 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7536265a-bbf5-4aa2-8867-536089968bc1 CLINVAR:551270 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21e3c956-07ad-423a-9992-53344db9ace4 CLINVAR:551270 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 034ac110-b457-4311-b9eb-686859e3c74c CLINVAR:1327501 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b2077d2-d6ba-44df-93c2-56821ce330e9 CLINVAR:1327501 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dde4466-4aa1-41e2-ae76-16cf8306cd4b CA891862619 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01c6b613-00a8-486d-96de-039d824f2dcc CA891862619 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b99ed85-a279-44b2-99c6-1f496ca96133 CA658795288 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71dfd719-0b98-4611-82a1-145f6e421a3c CA658795288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1a72ed-66d7-4717-82d8-777e74d2de1c CLINVAR:1693552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e7f571f-93a3-4f13-9e3a-21cee3361031 CLINVAR:1693552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca1ffc9f-432e-42cd-82e5-8b1f9e82098e CLINVAR:188806 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b58f0f7-a6c5-40f1-b89b-01549296e455 CLINVAR:188806 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2673e0fd-93fe-4275-ada0-14804308d341 CLINVAR:194154 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 397197f5-e57f-4cf5-abd9-38b5002828fe CLINVAR:194154 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a455a52d-9d61-4c5c-9b29-552a94172934 CLINVAR:4029 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d54fc6a-ef5b-4a4b-81bf-6d2aa201e540 CLINVAR:4029 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd3f5bc3-0964-49e1-a0c5-7ee607bae200 CA251545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e021d5fe-bedb-4b78-a162-ebc453ec8b7d CA251545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 143dbd35-c64b-4e81-b065-6cce294f5930 CLINVAR:558612 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fbc44ba-478a-4bd5-8854-7666b4dd7d50 CLINVAR:558612 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9351596c-dd16-4a03-85e4-536b4afa5265 CA16020968 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62f72aa9-98f4-43b6-86cf-79a783dbe371 CA16020968 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5879e302-ba67-410a-aec7-1bb26fe640dd CA16020934 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ca4d619-51c3-429c-b6a5-686e2b82c436 CA16020934 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b38e490f-c038-4d87-88eb-989610e6c334 CLINVAR:552488 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a003755-b695-4a93-88c6-30f03b5e049d CLINVAR:552488 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c74a5215-f2e9-469c-9f57-52de90c82224 CLINVAR:660581 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f9f5acd-8d3d-4f49-9e3a-0548ad554e15 CLINVAR:660581 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e8af1d1-20aa-490a-835b-96f6397f995c CLINVAR:102538 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be8d6052-0c1a-4fae-b96e-f5a5b63b1c18 CLINVAR:102538 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6965a6aa-5cc5-43ee-88ee-29b1656cd5a1 CLINVAR:102771 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89d8696b-2a74-4f0d-acd7-fe620b334f7e CLINVAR:102771 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b105739d-4476-43a0-8c74-225aa3c79c3f CLINVAR:102773 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16c439cc-3ccf-48ce-b57f-88c17319f8eb CLINVAR:102773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 599a8a67-d5d1-4856-a3f5-51c5322f0c5f CLINVAR:102775 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0304e83a-070c-4aab-ba33-d93b25f3077c CLINVAR:102775 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d56baab7-57e0-4959-8677-70207fcdbaba CLINVAR:234613 biolink:genetically_associated_with MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2d9a2ae-f563-482d-9147-0b0bc56ba6c8 CLINVAR:234613 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d5831a-48d7-4990-b875-4039e7b9ae14 CLINVAR:1292057 biolink:causes MONDO:0007648 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26cc5884-8b4c-45c4-844a-490b0c719fc8 CLINVAR:1292057 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 683bcc65-2594-47de-9348-b9e55208ace2 CLINVAR:102861 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 44067a1b-ef7f-4c2b-9b12-b4f620d43e3d CLINVAR:102861 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8f07ede-a15a-494d-bc98-4d02e8a8dea1 CLINVAR:237950 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d89abe4-a384-43fe-baaf-584d57a88917 CLINVAR:237950 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24416b42-d42c-4401-9e0a-431dbfef1175 CLINVAR:406604 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26e95460-4985-4e7a-829b-03dbb69e4a50 CLINVAR:406604 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c12c88d4-79df-421a-a749-3e4079cc8f64 CLINVAR:419837 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e082962-e815-4a79-8095-3c9174f2efd9 CLINVAR:419837 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920c5516-3bfb-4b51-a474-50bbbca52791 CLINVAR:230382 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4b7f5e7-b031-4924-874e-36e295afe951 CLINVAR:230382 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 487d07dc-061b-4402-8fb4-9b65a27da7a5 CA16020837 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b21433f5-cc12-4c00-acb6-2f4767069108 CA16020837 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb67c8cc-a6de-46f8-b0c1-35f92bd28568 CLINVAR:557425 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 908bacb1-cac1-4181-8068-49af04e8d835 CLINVAR:557425 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4217d64c-ac90-404f-abe5-4ce191b07b92 CA16020844 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f592873-db9b-4e17-ac30-486badcff114 CA16020844 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a091bc24-4b96-43b8-88fe-6c50ebe61762 CA16020848 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4645b19f-30da-40fa-a977-de05a11f3c36 CA16020848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f0c226-1f1c-450a-b565-722b63733e30 CA16020914 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 865ba462-ef8a-4aee-996e-4dcb9c5b09b9 CA16020914 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7968f5de-5ce7-4a55-9402-da7df54c875a CA16020927 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88f9dc55-a9e3-4a82-8f26-a510f817ec6e CA16020927 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7460e714-6ef2-4b20-8979-98e5cdb63331 CA16020942 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e427463a-059a-4012-9439-e4ba9d5edf70 CA16020942 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68c6fc83-8b5a-42a6-87a9-416b42072f52 CA16020952 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5be81ef8-a459-49b8-a6e1-b0214e95d481 CA16020952 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9678c39-8c8d-4cc9-b226-bdf754a41d77 CLINVAR:862570 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 28790ced-2faa-41fa-b900-6369c63399df CLINVAR:862570 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 432b9df9-9b24-4339-96ab-a5d986ccb66c CLINVAR:551592 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33a545a6-04f4-40e2-b668-2da2dceeb248 CLINVAR:551592 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72429e90-8565-4573-8833-06e683b3ae1f CLINVAR:189059 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca9f60b2-9799-4274-bd4f-b1334df944b2 CLINVAR:189059 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85a97a00-5d51-4b41-9214-87bceff12760 CLINVAR:556716 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6690596-bfec-4ac6-bbf0-fb7ca6e24e3e CLINVAR:556716 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23c603d1-28d2-4551-a854-afc9d1175790 CLINVAR:552747 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f965d70c-a1c4-41ea-878e-b5e149d9dd31 CLINVAR:552747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29cb7c54-8ab8-4c99-9802-dc8c8805af7c CLINVAR:554096 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4453e00c-de0a-4752-88df-0ff900176f37 CLINVAR:554096 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e552280-48fd-45d8-94fd-28999755a141 CLINVAR:550277 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3482fd5-a0f9-4a83-8685-4658cdc3e6ad CLINVAR:550277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fac1a1bb-87a5-4960-b231-29e688c027a6 CLINVAR:370552 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c5209e5-32b0-447f-839d-6dd1b0dc3661 CLINVAR:370552 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adad541d-4486-44b0-b24d-8091ec855ddf CLINVAR:370639 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2659861c-95ce-47a9-91eb-70fc60e0665d CLINVAR:370639 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ab2d48-a0af-4f30-86d1-6f350b914477 CLINVAR:370993 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 479992c9-f1f2-4c2f-a67d-e4040369dbe3 CLINVAR:370993 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 826dc189-c881-4ecb-86de-e44797461094 CLINVAR:555341 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 527e0b56-5202-4b41-abeb-e29a4fb0c0c3 CLINVAR:555341 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 433e9680-f971-422d-8dad-4637b85054d3 CLINVAR:558571 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c634a8ef-fc9b-4e48-8d5a-ea889eeb8015 CLINVAR:558571 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 070ed9d1-5b0f-4686-9d36-fe2765ee8d59 CLINVAR:92480 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73762467-5674-44b7-87de-94777002baa4 CLINVAR:92480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 355ba6b0-c8fe-4057-a255-37b8feadbbd2 CLINVAR:550478 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4efce929-7b8a-4323-9e93-5a51fe6b2aab CLINVAR:550478 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60655e9f-7196-4cfd-9fb2-ec9678f21e48 CLINVAR:597005 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c7a20ae-a974-4c18-9a5a-5271cee567a0 CLINVAR:597005 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e33b5a7c-6fa8-4c93-8d89-1b87ee3348b5 CLINVAR:42835 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53a788c5-7f9d-4521-b010-3aa23d32c3b7 CLINVAR:42835 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6314440-28f3-403c-91bd-f0e22a8447e6 CLINVAR:42840 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fde168c7-a8b9-4dcc-a66f-4b0780185619 CLINVAR:42840 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da3f0ad-cc07-4a49-8b0f-b18bfdaedad4 CLINVAR:42860 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb4ead4f-e341-40e3-b98a-4a25179c5057 CLINVAR:42860 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 810b3127-0a34-4223-a5a7-0454e192b5de CLINVAR:42876 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46ebbeb1-7b32-40f4-87da-7582d0527784 CLINVAR:42876 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b54b3e4c-bec9-4ae0-8c97-598b7be36eb5 CLINVAR:42948 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1eb0f48a-7bd5-4ac3-936d-35acbc419b9b CLINVAR:42948 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 283539eb-61d5-44e9-84df-beafeb1cf39a CLINVAR:42960 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80a7f51e-c882-4c44-9844-805d301fd2d2 CLINVAR:42960 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50366825-77bf-4cbe-93db-f60a3023736a CLINVAR:43028 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7804319a-0c7c-426a-868a-fc9a15e981ff CLINVAR:43028 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a93039a7-2f1b-4e0a-a02b-a1d80522ad2d CLINVAR:43064 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 687475f1-330e-4a79-8369-dd7c70bf6f68 CLINVAR:43064 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d13f71f-174c-47c1-af06-8128a3928fba CLINVAR:161323 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b938c262-9572-4a07-8252-e6f7556c6b52 CLINVAR:161323 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 172014bf-1a25-4c21-8e96-de28a21a597b CLINVAR:164316 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 837b54cf-0065-442f-b899-4d634584422f CLINVAR:164316 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055972a2-638d-4aca-a1b0-d21539bdcaee CLINVAR:42926 biolink:causes MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3758e75a-29fe-444f-ba1f-aea976c2c315 CLINVAR:42926 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e41a3b7-9d57-4f1d-bf7f-964c300a8fa1 CLINVAR:164319 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07e7ed54-fb4b-4bd4-aa00-e13136c016ce CLINVAR:164319 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0022143-8f95-4525-80b7-d307a1b74178 CLINVAR:181203 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43dd7a73-aa56-47e8-8945-bfbab5161488 CLINVAR:181203 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48c1d60c-8110-4a16-9f74-b1b31933f3e5 CLINVAR:164381 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd0243cf-281a-4759-a14d-5a8414952156 CLINVAR:164381 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5a5564-c244-4dfe-82c4-9801f741c2ed CLINVAR:177667 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1fbf511a-2174-4013-bb06-f3a4ad332dc4 CLINVAR:177667 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb9c77f5-45ac-47ab-a1ad-8fe1193007fb CLINVAR:177734 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f012cb0f-5e1e-4df2-8347-d4156a8bd1f8 CLINVAR:177734 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aff0e5de-3cd3-4f94-9c9b-7c658d6efcd2 CLINVAR:177847 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ef81b3f-f81a-401c-b66c-eced5b980bf5 CLINVAR:177847 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e34231c4-4180-4607-8a27-823dd9971db7 CLINVAR:179272 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14e1d7cf-c61c-4bb4-b72c-daff1bda0b8b CLINVAR:179272 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbf98d51-39e2-497a-94b4-9198da52e139 CLINVAR:180439 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e10a0ed-72de-4403-9bbe-8cacf30101be CLINVAR:180439 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95050de0-b012-4c86-8f7c-acf1cabe773d CLINVAR:180441 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39448006-18b8-48dd-933d-cba3807b021a CLINVAR:180441 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4919c58-ce58-4590-a91e-3b88b94668ed CLINVAR:43097 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 637a38c7-f336-4fe5-b6e7-8c2121003373 CLINVAR:43097 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36770971-b299-4d89-8b6f-3e5600814697 CLINVAR:180434 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4189b298-5b71-478b-ba86-338a6985bdfc CLINVAR:180434 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1937c7d-9c75-4c7e-9115-28bb2e2a81f5 CA16020978 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72d552c9-44b5-485c-bc25-7344892e5cae CA16020978 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d639df7f-2593-488f-a29e-55a407a3da43 CLINVAR:549912 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ed8d117-3c50-4810-b24e-72273a62f937 CLINVAR:549912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9652112b-0aba-4fdb-964b-aee587f0b303 CLINVAR:127811 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76af0d91-c5e4-4f63-a228-9c3523905fc8 CLINVAR:127811 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cd6cb63-2aa2-4e1f-ba0a-a2765bf03a91 CLINVAR:182926 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1b9d406-7d87-4958-a9a6-505bd46a5688 CLINVAR:182926 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d308cf5-2196-4907-bca1-6eac39c42c40 CLINVAR:973858 biolink:associated_with_increased_likelihood_of MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07a0af1b-33af-43cb-baf0-53a539294cbd CLINVAR:973858 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3020d04-cba3-4ccc-b06a-3d87185c5be4 CLINVAR:141566 biolink:genetically_associated_with MONDO:0007903 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc506e37-8655-45eb-a929-9ab7c2557c14 CLINVAR:141566 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ff1cb3-8750-446a-8d80-a34221a967fc CLINVAR:102681 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 501d6916-cf21-4dc6-bf9f-ef717ff1ee72 CLINVAR:102681 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8fac7d1-dc1a-4b51-83e0-e8e2085a167d CLINVAR:9641 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a006bd3c-e219-49a7-b55a-e51c87b75666 CLINVAR:9641 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5434de73-14b2-4cce-b49b-e75bc9f365a4 CLINVAR:1065382 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72e23ddb-e795-43fc-82ec-7bf721d8aafd CLINVAR:1065382 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ec4b14-5102-43ce-a1b6-9bcab6f4b011 CLINVAR:9642 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8cd79f1c-e18d-4018-8835-e022f2a7f3af CLINVAR:9642 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7042ae56-a522-4320-8df7-5a769484d26a CA916084430 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f412b062-97e8-4723-84cb-9ba4ab764b6e CA916084430 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d42658-ea3f-442c-9347-dcec874a81d0 CA916084429 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 320a1ab9-3d23-4f1d-b0c9-f39837d0f592 CA916084429 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b54d329-431c-4acd-aafa-86a5e9e880e5 CLINVAR:890601 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85226d88-71d9-4d5e-acdd-bbfdc6ef7eed CLINVAR:890601 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23590c04-d3b4-4998-a48d-f946b994ac10 CLINVAR:265901 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4d0d83e-7b26-4187-9cfb-fe32598b4360 CLINVAR:265901 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 881e5302-0e8d-4548-91c7-d1cefbf6e94d CLINVAR:650703 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb43d96f-2aaa-4065-ae42-c49756e47d92 CLINVAR:650703 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ae3b24-6ce2-4d55-b7cc-386b717b43d8 CLINVAR:977125 biolink:causes MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f97061e2-13b6-4773-9bea-35fea41214ac CLINVAR:977125 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9ce84d3-3402-4532-aa7f-a2f114c96747 CLINVAR:953025 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5818d2e0-d427-44ff-95b8-9800a3a07adc CLINVAR:2323 biolink:causes MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1201244d-5c56-4040-b466-1d6edb6e6903 CLINVAR:39816 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2328aebc-a890-441e-8705-b44a4c6bfc39 CLINVAR:39816 biolink:is_sequence_variant_of HGNC:393 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab424d0-d423-4b49-9bbe-0934b56ac542 CLINVAR:664963 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7b54b1b-c36a-4584-b896-f5a3542e3a29 CLINVAR:664963 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c731bc3-0b11-4bc2-833d-d737efedc783 CA645535219 biolink:associated_with_increased_likelihood_of MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb5f45a7-847f-4b16-a768-665085c09db9 CA645535219 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d87d8750-be69-476b-8deb-87a2fa3553c2 CLINVAR:39808 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93c39a37-8143-41bb-a001-7908dcc053d0 CLINVAR:39808 biolink:is_sequence_variant_of HGNC:8980 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b545d4c9-edf9-4a92-acf4-32b375d0fb0d CLINVAR:376130 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75d154ba-161d-410d-bd4c-53c153d201e4 CLINVAR:376130 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a31f3de-cc31-440e-94b0-50b34e0de29d CLINVAR:858694 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7a3e975-db59-4a3c-ba4e-b3515635065b CLINVAR:858694 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c8c44e-646f-4e2d-8bdc-99627e4d12b6 CLINVAR:376453 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d4e9477-ddb1-4eb8-812c-d600dbd2ea02 CLINVAR:376453 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77a7d0a8-e02b-4799-a386-8df8377f893b CLINVAR:1296990 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23516f5b-97f8-4f35-ac3a-2671aa329271 CLINVAR:1296990 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59fadd53-dda4-40f6-8c1a-05dd38d57523 CLINVAR:833713 biolink:genetically_associated_with MONDO:0100283 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17531c4d-4ea0-48cf-b9d2-bc0265ad4f0e CLINVAR:833713 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c944e0d9-94f9-4a11-a0a7-3915c15d1761 CLINVAR:374796 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0bb735cf-a4bf-4e8a-8a7e-4e0d2d7e3b1a CLINVAR:374796 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a2b41f9-2d80-4db8-b507-f7423a6c6223 CLINVAR:1296992 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9712cf26-ae68-44a5-bc1a-624a04f11eab CLINVAR:1296992 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d475792-3f0b-474f-82f8-b0e16ee2e647 CLINVAR:31944 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90ac9f97-1b17-4b6c-ae1d-0c8a44e7e4ae CLINVAR:31944 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 249849da-1b86-40ea-b251-5f8d3586f345 CLINVAR:39703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f2a2d06-e134-42be-8c8b-923ea09d5eb5 CLINVAR:39703 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad4e2a8-13c7-4cf2-a0db-eff804ac6190 CLINVAR:1296991 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5f86289-f533-4291-ad67-b1226a0339a0 CLINVAR:1296991 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5ed09f-4040-45b0-a2a1-5f805ff0292b CLINVAR:376476 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11d6d5bf-67f5-4c59-a070-6d3177018a41 CLINVAR:376476 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 346b5fe8-a8e1-4eee-825a-688a1cd95bcc CLINVAR:156702 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 253c4162-4714-4b75-83b6-8a4973519ba7 CLINVAR:156702 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4dca84b-5816-4695-ab6f-80fa2f255509 CLINVAR:376129 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ffb6d0a4-9c01-4d0a-b903-7970a38b6b2c CLINVAR:376129 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eacf5ad9-21d4-48aa-a2eb-d7f4d8a5f557 CLINVAR:1296997 biolink:associated_with_increased_likelihood_of MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 703390c1-fc23-409c-ab19-e1d4542c3e44 CLINVAR:1296997 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 847b1790-f7ed-42d9-9b15-af3b2d7b612d CLINVAR:1296994 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffb2b6fe-1c31-4962-a1a3-912bc91ed4f0 CLINVAR:1296994 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49ec91f3-e7ad-40c1-9ef0-a3cd4212ced7 CLINVAR:1296989 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c1bba07-5b49-4e3d-b8fa-d1ac31fd1d8e CLINVAR:1296989 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a063984-d574-4fed-9528-b437f4a6fc5e CLINVAR:659938 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 725d606a-21b9-46ee-9a3f-c4de5161bd77 CLINVAR:659938 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f54f7e-6a8a-4b0e-a328-3d40e2db7f35 CLINVAR:1296993 biolink:associated_with_increased_likelihood_of MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dfde7029-2589-4480-84f2-f65cea997576 CLINVAR:1296993 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b39f72f-a54b-44ce-8bb4-dbbe6493940d CLINVAR:1296995 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ff1b26c-b91d-4922-bc7c-5a9e7af6139b CLINVAR:1296995 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 508b2116-4b3e-4f2d-aba3-e1287563c771 CLINVAR:156703 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c42d92a9-9f13-4ba3-852b-c06be9c92f11 CLINVAR:156703 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37762ed2-4ac8-4c5d-9363-37be63316478 CLINVAR:1296996 biolink:genetically_associated_with MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62870183-8436-477d-b04b-15101a2f6fd9 CLINVAR:1296996 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26e68bf2-7b5b-41ca-b970-c2846bcbfb4c CLINVAR:417723 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0fce750b-f2db-42b3-a519-16be11fdf9da CLINVAR:417723 biolink:is_sequence_variant_of HGNC:3942 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625f24e0-6b81-4f9a-9a17-7840d3cf1c5f CLINVAR:13652 biolink:causes MONDO:0016054 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad49462a-1845-4f37-85f3-6e90399bdb9d CLINVAR:13652 biolink:is_sequence_variant_of HGNC:8975 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4058dc3-3a6d-46c1-bbd4-17c832d5897e CLINVAR:693058 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a4e060b-8838-497a-af57-f70844503a4d CLINVAR:693058 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00d0fbc6-9df0-4127-a3d2-6a220d057201 CA414799043 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa8959ea-49bb-4bb1-be4f-e826c4b822f1 CLINVAR:658833 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 903edd72-93d3-4c53-ac98-4621cfad98bf CLINVAR:658833 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28803283-8d8c-4338-8ff6-f93702d4eeb9 CLINVAR:329444 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3dc8d56-af51-4a10-8378-1f7ea3b78393 CLINVAR:329444 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89a71779-e782-4948-a507-63a834cf79f9 CLINVAR:329442 biolink:genetically_associated_with MONDO:0011229 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2598186d-bfe7-4518-aa03-980b5cd38113 CLINVAR:329442 biolink:is_sequence_variant_of HGNC:23287 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e25e837-c89d-4527-8b5c-775630b35de2 CLINVAR:214936 biolink:causes MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c80f5574-624f-4b72-8fee-eb7f39cec2d5 CLINVAR:214936 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d33e41da-a8e2-4039-8eb2-30d001182a9d CLINVAR:214938 biolink:associated_with_increased_likelihood_of MONDO:0019169 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07acf188-697b-4cdf-97fd-44b7dfd2e97f CLINVAR:214938 biolink:is_sequence_variant_of HGNC:8806 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dfe2995-a94c-4f61-adec-76f1e2dafc7c CLINVAR:972803 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb3a9552-64a0-42cc-9349-2a7c0fe12da7 CLINVAR:972803 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8cb9ca5-8d81-434c-bddb-a39d0aff70ca CLINVAR:1327503 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f582ca3-4f51-4d38-ac62-74fc56766ee8 CLINVAR:1327503 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82c94521-b29d-4225-a036-a8f72f60a97b CLINVAR:1327504 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09579038-5a18-4285-9faa-f61ccbdc23c3 CLINVAR:1327504 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e367541-f246-4e6d-8637-b996a74a7f4a CLINVAR:371481 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b0c6eb6-fd7c-44c4-8629-7f02c8f1092c CLINVAR:371481 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4d27ae4-940f-4777-8ced-079c986e4bb3 CLINVAR:551558 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d1bf29d4-acdd-4c02-8ec3-db6439665deb CLINVAR:551558 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae2925ae-e1d7-4085-a3f9-591d4a2bd377 CLINVAR:9714 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7865fad3-3218-4ded-a82d-cbc4365c07a9 CLINVAR:9714 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a43309c6-8440-4dae-ade4-8920d1386ec6 CLINVAR:555153 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72f68014-05af-4544-ba14-5a701669c4e4 CLINVAR:555153 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c9551f8-424f-4779-947c-9fd2a51a0c00 CLINVAR:558700 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d4b4fbe-fffd-4a50-a46d-20507921701f CLINVAR:558700 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d4abce5-fd84-419e-9741-fbdf6c62e7cd CLINVAR:956209 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3bd9ef6e-b68b-4e69-aca5-3e9105a29ca3 CLINVAR:956209 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a16d9cf5-7cb8-4bff-8513-c8a5daa594eb CLINVAR:9702 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b675f6f-2c59-4aec-9044-ac3fa2814f9b CLINVAR:9702 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0767174e-e4e9-4401-943c-1c446794a80a CLINVAR:689930 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91bcfe4a-6e06-4f42-ad86-99e86b6b6dbe CLINVAR:689930 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9253b603-8e82-46cd-b5ee-dfee10f93a02 CLINVAR:265160 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2906b5c9-ddd6-4f7a-8be1-a375100e783b CLINVAR:265160 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bed71e72-6b05-4145-9ce8-2a7baa48ee5e CA386966233 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44fbc9d5-8d56-4843-a1bb-399b741da5f5 CA386966233 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74d19e1f-9559-48f2-b4aa-24123913e549 CA386966092 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b21abc10-f25f-4404-ba50-278f313b7e51 CA386966092 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79af52da-d1d8-4642-8d5f-ae5e327ba491 CA386959939 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8da3fab-2d0c-4813-90e1-570483982d3f CA386959939 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 054ddbaa-1a32-47a6-a982-e7f127828064 CA386959897 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f78d2ae-646f-4611-8467-949fe84fba31 CA386959897 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81222ead-a5f3-453c-90e7-0232dec91fab CA386959900 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6bdfec32-c687-463e-99bb-334d19f3c120 CA386959900 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb7c124-fc2d-432e-b800-8194727e5d45 CLINVAR:586798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93c41788-9e2e-4aeb-ad19-8f66854da799 CLINVAR:586798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17522a6d-c304-4ef6-93b3-3ff6045422e2 CA386967824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3c2780e-9f9c-4744-b1e6-a3f818d9bac8 CA386967824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92f774bc-1b6c-4260-92aa-b30b526647da CLINVAR:617646 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7238e2bd-9e59-4977-bbae-64dcebbbef01 CLINVAR:617646 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 085450c2-687e-431a-a7d8-58de566d0f5c CA386959690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b014742a-d67e-48b0-832d-872020179dad CA386959690 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65b5249f-9aa4-44d9-b885-d6e26d15bef2 CA386959674 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ccde5f7-adb2-4c17-b037-8e3d4ac43ca9 CA386959674 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 694967c0-b339-4b01-97d6-62e4d7d97489 CA386954869 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20c2e244-3178-4cda-95ab-00d878b6bf95 CA386954869 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fe094c1-8471-4e7d-99ce-81319a03ae3b CLINVAR:14930 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ccb42a88-0450-4bd6-b605-43fc22b0cbf9 CLINVAR:14930 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69cb2495-fc3b-4901-ba40-7c842a1bda8d CA386952489 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a0924a8-8c31-4431-8d2a-d958400b8594 CA386952489 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d7af155-569e-455c-9947-c6c847c4d09f CA386965866 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26ff3f4c-52ef-4158-a910-9a4fb18aedb1 CA386965866 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb8d7074-e7ee-4004-8e50-b50ad2de4fc6 CA386965858 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16191ef7-797e-47be-b46e-596e103e904e CA386965858 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b0cb23d-ad8f-4827-a0c9-89b082414605 CA386952583 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af9dbbc7-df5d-4833-baec-95a7a0aff051 CA386952583 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12d24682-c0f6-4565-80ab-0051eeb6ea7c CA386952580 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d8eab71c-7f3f-4dc6-8e36-cf9d15bb3919 CA386952580 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5448de7-53fa-4883-9834-bdca2e038ffe CA386952573 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd05a228-cc68-42d6-9c4e-2d1849060a95 CA386952573 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 539bd3a6-083b-48c2-b3a5-42d64e2184ab CLINVAR:1033090 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 604c31d1-82e3-427d-ad90-dd84ad299ac5 CLINVAR:1033090 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26b214fc-a36e-4a04-8f75-2869a7352d22 CA244520175 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d51cbdf-57a6-4e42-9818-ffd45f243d3b CA244520175 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72c1046c-3c94-45b1-bdca-b091b9751c06 CA2480594443 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d5b11b4-a1a3-4527-b7c2-6b0408d86676 CA2480594443 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b8885e2-69b3-4a0b-9745-350f38852327 CLINVAR:447488 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2522301b-3424-4ba8-ab32-5128cafeb8c8 CLINVAR:447488 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad109d12-0cf7-4a9c-95c1-544aeac1621d CLINVAR:14943 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57278b42-9889-4848-b29d-c09283169338 CLINVAR:14943 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db2c3a6-a7a4-4cf8-8e0f-944cd4ff68cf CLINVAR:14933 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6e31c96-46dd-41f9-84a2-d5ea27fb6632 CLINVAR:14933 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad47fa59-cf40-406c-bc47-b1b4036d1a24 CLINVAR:562373 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ed68f25-9fbd-403b-966a-19af24d134e4 CLINVAR:562373 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d508a94-adc4-4032-bc1f-ec6449cb6545 CLINVAR:1327603 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fd47228-8ec3-43c2-b416-ac4455082c47 CLINVAR:1327603 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2517fc65-42c6-4317-81fb-d9e61e6f3834 CLINVAR:994547 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2729bc2d-8db7-4bd6-8808-a157fb5357fe CLINVAR:994547 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3200ccac-0d64-4db5-ae31-adf7dfb25d68 CLINVAR:484614 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd3a6e1a-2a29-4bb5-b6e5-eabce213e364 CLINVAR:484614 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6651e86a-f7c3-48d8-bee2-419801838e62 CLINVAR:9689 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8864b01b-e831-42bc-8f2c-a06ed902f09c CLINVAR:9689 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad4e714-b31c-4a61-b038-07687bdd69a7 CLINVAR:9579 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79f2df1c-a040-4f57-a5c4-fe9a4d0e364b CLINVAR:9579 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d02cc33d-c80b-4e32-bd16-a657df013f19 CLINVAR:590492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b358b46b-a769-4790-9fcc-951bc7853b63 CLINVAR:590492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d3bcfb-1071-4085-8f7b-6f55af61e712 CLINVAR:133093 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4619597-d23f-4534-a004-6599422a3afc CLINVAR:133093 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ad7844-8725-48cb-a24c-d0f5019495bd CA16020828 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72860e6a-d748-4db9-a5ef-8763a5617f2d CA16020828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32ce18c0-50f4-495d-bbc0-209dbba02adc CLINVAR:1327604 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89506a9c-4e26-4514-af2f-8ebecb5c7bc3 CLINVAR:1327604 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8006e84-9986-4bfd-b376-f917cede27c1 CA386965780 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3466acc0-dc41-4cbe-8b00-2c88616b8a42 CA386965780 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90f765f2-cc29-4f4e-977f-caf3e120fff3 CA2023554331 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 91aaee46-db73-4dce-b249-820e86d6b4b5 CA2023554331 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3333dcb5-c45d-4fd2-b309-1682eec63de7 CA386965770 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd2ffa35-4740-4797-b208-5a884334eb9c CA386965770 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c4534c-3f87-4a11-8ba6-3dcd69cd4ae6 CA386965775 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c05dd57a-19f5-4b38-ad21-7fef16f8baf5 CA386965775 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad0c8c9a-dc67-45c5-8a5d-91f3bb02e51a CA386965798 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3345356-40ad-4da3-a78a-a7b49e1dd3e5 CA386965798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ddf3e2b-d729-4198-bc6d-6a6320f1c708 CLINVAR:703089 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4055e22d-3ad5-4567-b7a5-2b5267c62ea9 CLINVAR:703089 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ed3de10-95fa-48f4-ae77-43093dfbdf56 CLINVAR:102539 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5cffbe71-d289-4fdb-a0a9-a815346d7835 CLINVAR:102539 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c067d550-5318-4616-8132-e81cc224dff7 CA16020982 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a904573-3624-4c91-8af2-906203572214 CA16020982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4e08c94-45ce-40e1-b3cb-2cd978a66d90 CA16020983 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5eb7da5d-379d-4870-9215-326e2043b8c5 CA16020983 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4df7622-a9ab-4b40-8194-7da75fbe4e3e CA16020990 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87cf2a90-a487-4af9-81bb-12d173261e45 CA16020990 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e709db15-33da-4524-b31e-3fac4e03a6b9 CLINVAR:962987 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed7905d7-dd50-410d-9f41-468f48d1499d CLINVAR:962987 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df390f38-f12d-4fa4-9a5e-b1e75fb0b49d CA6748773 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd08de5d-3f36-4308-92db-b2bb15330940 CA6748773 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f35559a-6f3e-4a30-b8ee-0bff9b2771e4 CLINVAR:102528 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c69bdf3-2af4-4b3e-b653-7851b62cdbdc CLINVAR:102528 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d071df0c-4067-47e6-b263-f5681e60d42a CLINVAR:102545 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ba60613c-2700-4894-9399-2a6b89dc43dc CLINVAR:102545 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f35fa42-6a85-4ae1-bae7-00e7761e9595 CLINVAR:102546 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a1301a09-776e-4627-b16d-921534862031 CLINVAR:102546 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a6553b0-992f-4e49-b8ac-3a6623ddff12 CLINVAR:281052 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b4ebc05f-8eb7-4801-b355-7fed093192f4 CLINVAR:281052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78493ae5-d10a-4f6b-9c98-c8b629435a59 CLINVAR:283219 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e9ce40e-ed4c-401f-9227-31b7c8822352 CLINVAR:283219 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c594bd-f121-4943-9f34-391ca97bdf5b CLINVAR:640911 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 643e9cdf-2df9-4349-95c6-455d31c66961 CLINVAR:640911 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaac1da6-89d0-4f3a-bcb9-23b9704f24ce CA401363854 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f851aeb-b88b-42a4-93db-7d2a0cbba780 CA401363854 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d05c316-836e-4ceb-8982-541afef3aeec CLINVAR:370637 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2229b72a-f4fa-4629-a56a-797e5bb96217 CLINVAR:370637 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 221718cb-43d6-4b5b-a4c1-7981d11d7737 CLINVAR:181210 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c054e0e9-13dc-4f7c-a058-9c2802d41e1c CLINVAR:181210 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f68d33ba-c098-4f1d-8d89-bbcfa2782489 CLINVAR:181236 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a6cf7c36-6910-49ef-bdcc-17ef46e7cf62 CLINVAR:181236 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d227d7-c10f-468b-90c1-91f304a5209c CLINVAR:181278 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2ef41a3-cc30-4ca5-882e-569e32bda4a9 CLINVAR:181278 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2576f958-d68d-4d2e-8140-cc148b40994f CLINVAR:181286 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 471c693b-d3e1-492e-899a-a9ced5707200 CLINVAR:181286 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e62cf0f7-9a51-418f-8de0-19a718935687 CLINVAR:181293 biolink:genetically_associated_with MONDO:0004994 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ff66ea0-aa81-4fb4-a5aa-a773e70fa1ac CLINVAR:181293 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9888e933-4018-4fc1-894b-fed4773441a0 CLINVAR:181299 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17aa9315-fad8-43c8-8dfe-fb5db27260b9 CLINVAR:181299 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be63c991-98db-415a-9f46-a3273362e96b CLINVAR:181300 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da6c9c91-f308-4292-ba4a-a9bdf9f08e0b CLINVAR:181300 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ce3dd70-066b-4d02-bd4d-37a479f17e38 CLINVAR:181310 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 806647ed-79fd-47b1-9cb3-79aa6bdf9c6f CLINVAR:181310 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 683b4c64-3e5e-4c78-b1cc-8a5c7646872f CLINVAR:181312 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df77928a-f525-46f9-863d-bbee345f7afe CLINVAR:181312 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5857699-2084-446c-9b91-babda7f0de1f CLINVAR:181315 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17a141d6-e3f8-4883-adee-1b0f70fb065f CLINVAR:181315 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d33754e-82f0-4f29-978d-d564639271e2 CLINVAR:181330 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8fd0ddbf-3d7d-4f0f-9b50-4efa59d7a35e CLINVAR:181330 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a71fdf04-a85e-44c0-b14c-fc5e33df4646 CLINVAR:36831 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7e9a0fd9-e6ff-4377-9abe-abb7e046e576 CLINVAR:36831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 076642c5-308c-4d24-b259-c6498e1f60d3 CLINVAR:1327611 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e999a683-39ac-4169-816c-da5fae5b581e CLINVAR:1327611 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cb62a0-19f8-4f5d-b354-dfdf088485bd CLINVAR:1327612 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a95c500-3cdf-4371-97b3-ce05cbc3074b CLINVAR:1327612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9353216-c3a0-4fcd-9c4e-ad9baecac24c CLINVAR:1327613 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a15554f8-9444-4f1e-835b-d92e16491265 CLINVAR:1327613 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fd7dfb0-5e72-47e2-b5b5-ceb1726ccd9f CLINVAR:1327614 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27f0b21f-c45f-492b-8ad0-8a16486cd469 CLINVAR:1327614 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8927eeb2-f19d-4c07-a5a4-a04cf9040cb1 CLINVAR:1327615 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b3f3fb7-0666-4c17-a12e-f67ebaae6439 CLINVAR:1327615 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 181a102f-e6a7-42da-af6b-c39413b14b63 CLINVAR:1327617 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afc01086-4d3a-4d03-ab6d-fbf1897e5499 CLINVAR:1327617 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1128ad5f-169a-4653-824b-8df023104e3a CLINVAR:1327618 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f66d056b-0a20-4cc5-9226-da591627bb09 CLINVAR:1327618 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8121a101-ea07-43cb-bf0f-8edc41d05ce8 CLINVAR:1327619 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62bf5ca4-5d9c-4bab-82ff-0c1f38f57cf8 CLINVAR:1327619 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a6c0db2-55eb-4164-b021-7a10c9444429 CLINVAR:689846 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 968144e3-4496-439f-888a-82fa0532d298 CLINVAR:689846 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 237d97b8-f3ae-4762-ae79-ea8ccd7d4b78 CLINVAR:693460 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45c40797-2079-48f2-a453-67c1ff9066f0 CLINVAR:693460 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71296f28-15cd-473c-9340-dc251dabb13d CLINVAR:692343 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 314411a0-9979-466c-9211-8b8f517e4617 CLINVAR:692343 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d2e7e4e-ab05-474f-824b-9a1ce150b579 CA414791198 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 846e129d-1682-45e9-b7c0-764cac583037 CA414775553 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb800075-5f37-4f33-8f55-b2fc24b9534c CLINVAR:693828 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86d46ab9-9abf-4419-80db-34fa9a470b38 CLINVAR:693828 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15a93006-60c6-4664-ab8b-72c50be91af2 CLINVAR:689941 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e62629f1-8113-4621-ac95-cbc1f77c318a CLINVAR:689941 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4f251b2-0c1f-423e-92db-a4a9e8e3aafa CLINVAR:102493 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bbe8924b-b8e3-4404-959f-e2549b38128d CLINVAR:102493 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f22d422-9287-49fd-bab6-408edfdd3a63 CLINVAR:102487 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3ddbdb8-da7a-4292-8152-8d6730f1cd01 CLINVAR:102487 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d76493c-c0d3-4790-b568-1b33b0c3ca59 CLINVAR:690123 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c6c9621-1338-4913-acb3-3a5c470d098b CLINVAR:690123 biolink:is_sequence_variant_of HGNC:7496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36f9e15a-99a1-4a66-a189-908725439b61 CLINVAR:102585 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 28e32fc3-b4df-4337-a677-a4c5cd357c49 CLINVAR:102585 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a3f7a7-6087-41c2-b17c-3042d4578688 CLINVAR:102611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49fe3882-ad69-411e-a904-86d345d08f54 CLINVAR:102611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ae524b0-68f0-4cc9-a8cc-40676207b8d8 CLINVAR:102776 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a296d81a-e4f8-4583-b0f1-4361f40d0c9c CLINVAR:102776 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd68c6f-2233-466a-961f-13c48cf93c80 CLINVAR:102785 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bb74c64-fe6a-4b61-ab5d-bb512e0b31a2 CLINVAR:102785 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91c7edc4-35c0-41df-b15f-93c00e09ed85 CA16020954 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 593e54e5-73e9-45ad-8219-770837f46c1e CA16020954 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11eca50d-7333-49a4-b51a-8215b4a398f8 CLINVAR:370982 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dcb1aa3e-67c7-41b0-8f7e-e5d758f36705 CLINVAR:370982 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9053a36-f0e8-4355-b096-4f62a9892819 CLINVAR:102748 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a516b6e2-22df-4ce4-ae4a-81b038e4de3b CLINVAR:102748 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b862e962-98ed-4f4d-bb31-2e3a296dbc9f CLINVAR:102807 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8732ee35-4d52-4e6a-a896-fc0bce426f54 CLINVAR:102807 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47ab77f4-1184-4f38-bb8f-914866bd3114 CLINVAR:133186 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4511025-4915-4ff9-9efa-c60b09c1ad6e CLINVAR:133186 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8356f169-371e-4f50-9087-be0c83f2cbd1 CLINVAR:133187 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6cd06db2-0714-4394-88b5-a5d65abf62ac CLINVAR:133187 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9fa89e2-68d3-47ec-bbfa-59b987600ffc CLINVAR:1330355 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bb55844-a5b9-4397-ae82-734e5eab997a CLINVAR:1330355 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb65b4ef-2352-4dd9-943b-58a62cacdddc CLINVAR:582065 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 607b4b2f-852e-4589-92e5-621c29f93428 CLINVAR:582065 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47cde99a-196d-40e2-9a86-9c9117fb7c41 CLINVAR:161379 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 528f80b2-e356-4ce2-9110-11401521701f CLINVAR:161379 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88a2ab4f-6c23-4815-8d46-97350e15818e CLINVAR:133194 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 104f0f0f-2983-482c-8cba-3e177093d2d5 CLINVAR:133194 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa6eaa8-684e-48f4-837a-5844f861c771 CLINVAR:133195 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9626afa-6452-4ded-8b4e-9be2658e7ce9 CLINVAR:133195 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1aed008-5286-47a9-bde6-d7409a3c5519 CLINVAR:133196 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 931db28f-cce2-44b9-b303-79cf8b6b2469 CLINVAR:133196 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bc8f18b-b887-4dcb-bc46-670968cc7585 CLINVAR:133197 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3730acbf-f629-45f3-83c2-218947481238 CLINVAR:133197 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0e463ae-a3aa-4a82-8525-ac88e7c1c5ad CLINVAR:133198 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d6022ef-69f8-4d23-bc3d-7c831688682f CLINVAR:133198 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b93e06ce-2034-42c5-82d1-a4ce2db4587c CLINVAR:133201 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c5b59fc-5baa-4826-b4bb-6b9199c7d0a3 CLINVAR:133201 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c612c378-8c28-4a9f-b383-085468586d17 CLINVAR:133208 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba622bb7-44d6-4502-9994-abde0ba8e24b CLINVAR:133208 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 764e38a3-ea73-4a6d-a163-9c9fafe5b697 CLINVAR:1056224 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 851d694b-da93-46f2-b540-07b426fe8372 CLINVAR:1056224 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8332f1a-6e85-4b95-9a0c-112e20b105e5 CLINVAR:133211 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56370295-733e-4808-8214-0d987f05f3de CLINVAR:133211 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef0f75e3-fcd9-4caa-99a9-ff6672a89273 CLINVAR:93291 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba7b0170-a49d-4d9c-872a-264fb9d1491f CLINVAR:93291 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ef092f-cec3-4281-af3e-11148c48e999 CLINVAR:654130 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d50e27f5-f4fa-404f-a64d-938d323cb3ac CLINVAR:654130 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 694cb3c5-a56b-42e5-a0c3-9ed4a3d643f3 CLINVAR:1330356 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6f57fbd-9732-4b8e-88c4-9af2f8a892ab CLINVAR:1330356 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 864a2e5a-1bd4-45c2-abb6-f8a36897567e CLINVAR:133212 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 124e5e34-74e6-4eb9-a754-4138c7f326d8 CLINVAR:133212 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea336449-d8b9-479f-b69d-b1b50f464e02 CLINVAR:1330358 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06209462-07a1-4b26-bf6e-01af8cf513a2 CLINVAR:1330358 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c94e393a-fa0c-47c1-981a-fe995ee9ddb1 CLINVAR:872586 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56497eda-35d5-430f-b40b-13ecd0364245 CLINVAR:872586 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed514f23-ebaf-4f9f-92af-c57e0b1e3623 CLINVAR:1330359 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5dd1244-b889-4a7c-8f66-c1a96c432734 CLINVAR:1330359 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1909fe9-24af-4d4e-9d0b-e436cc58fc31 CLINVAR:133217 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93bd93d1-5153-4053-99ad-7f3a05f7cdfd CLINVAR:133217 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f74782a8-2bb1-4841-a5de-5020e53ff57f CLINVAR:1308515 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6ec604f-f8ab-43a3-b3f6-ea912193cdbc CLINVAR:1308515 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76ab2d45-4039-452f-babf-72ce6e299199 CLINVAR:133218 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96aaa797-1af4-4fdd-932a-5e3e969a9528 CLINVAR:133218 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9eb0781-fa3e-4ff1-904c-457fdb628f06 CLINVAR:133219 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6b37814-bc5f-44d2-954b-89f6eb8a4393 CLINVAR:133219 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7e17dba-6579-4f11-9885-396329497537 CLINVAR:133220 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2d5ebc9-30c3-4552-9750-097983b6c59d CLINVAR:133220 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d65048-637d-4d7e-8e7b-e1cedf9fbf4b CLINVAR:133221 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3f5ef3e-f20b-4412-881d-c37d4d0723bd CLINVAR:133221 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4206eed5-b2b3-494e-8db2-63e4b8bdd65c CLINVAR:133061 biolink:causes MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c181097-0de6-4a98-b37a-dca10e5ecf0c CLINVAR:133061 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41449106-de3d-4167-8dec-49ba969457e9 CLINVAR:133160 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44b26bad-8c9a-4a47-b1a3-8bbd4faa6e48 CLINVAR:133160 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52d3fcc8-1b11-4f22-b517-b01cfccaf4b5 CLINVAR:133226 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ecab280-723a-4771-be09-00e92c4ffc42 CLINVAR:133226 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb45729d-f852-4e03-8b5c-a61340aff061 CLINVAR:1330360 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5aa19a2-438b-4e2d-a465-1013269c637e CLINVAR:1330360 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8385f6e-1d38-466a-8605-b7be04438d6b CLINVAR:133230 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0c09545-c44a-4f66-8398-ec8bfbca1c48 CLINVAR:133230 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54556164-6289-47f3-b8da-a61adb36e3d0 CLINVAR:133232 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9cec24a0-9845-47dd-b092-2a0efc458936 CLINVAR:133232 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8c15d25-77ce-448c-80c7-87c6809b762c CLINVAR:1330361 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af74008f-8391-46f5-8b2d-98c703892596 CLINVAR:1330361 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a40f1b54-f79a-4caa-b86c-4a79569fc14c CLINVAR:1330362 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ba12f84-ff91-447e-b754-c20a7a7140ab CLINVAR:1330362 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 362b5654-5139-4f5c-9fa5-d1217eb5ec61 CLINVAR:1330363 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00c5d1c6-a118-4971-a38c-a6e91cabf60d CLINVAR:1330363 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6905083-e247-4c60-8583-490df282ec21 CLINVAR:544516 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed24c7c7-0773-46ca-8f9d-f86ebf0814c4 CLINVAR:544516 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e33dd2c-a55f-4d1c-b9ca-017f51c69f3a CLINVAR:1330364 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba17e8aa-c9ea-4ee4-8e08-404d7aa55f63 CLINVAR:1330364 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ca13dda-6056-46f3-a896-801699a78ddc CLINVAR:133241 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f85eb06-31b2-47bc-a96d-6f366a3ce05a CLINVAR:133241 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc2a65b4-c6e1-4095-983d-9f6615eaf3f6 CLINVAR:329090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85c9a724-e22c-448a-ab8d-87195dd84fae CLINVAR:329090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e7ed4ca-b64b-474a-b42d-9165d052b45c CLINVAR:1330365 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b8865d7-18b3-4678-a8ce-f2513a863a78 CLINVAR:1330365 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d7d51cd-3ff9-4654-bab0-5d7086ea78d4 CLINVAR:1010267 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9a48e5a-00f0-4af9-af7d-f25a12c41ce2 CLINVAR:1010267 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b665af1-671f-4422-aa32-479d708371c4 CLINVAR:1330366 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dffa2b37-bb50-42a5-9434-1b2a394447fd CLINVAR:1330366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0bdf933-ff84-4b65-b294-aaa95c205bbb CLINVAR:1330367 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen acfc4a7c-818a-4f17-84ee-5293922025ae CLINVAR:1330367 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0593874f-916e-4b36-87a6-cd47c709cc3e CLINVAR:1303276 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25fb9ddd-ea63-4a51-a63b-beb49f93f698 CLINVAR:1303276 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c691baa-e06b-44d2-af58-5af72081e1c7 CLINVAR:1330368 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33515c67-5be7-41bf-aac7-1b35850e888f CLINVAR:1330368 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9766c3d-a8ee-47c2-909b-d2bb9f5b1667 CLINVAR:1330369 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4d98ef8-84f2-490d-b834-5d2897f88297 CLINVAR:1330369 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dab2307-6cd7-4ceb-909b-b764af7e737b CLINVAR:133070 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2cebfcc-0ce9-4da1-91d4-b22bf901da2d CLINVAR:133070 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be2b8554-7e73-491c-b2df-a23c0807b14c CLINVAR:590630 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9840b72-0bdb-483f-8610-717feee50897 CLINVAR:590630 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8ec10ce-1fa3-404e-ac38-ee8bb6b8db3e CLINVAR:429750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 764af420-4a48-410b-8b1f-88f226d04fdf CLINVAR:429750 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1eb843c-2c0d-45f2-a307-957453056283 CA400029525 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8daf7435-1f0f-4fea-ad63-43cc6d837008 CA400029525 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dacf12f-1d5d-4c58-a4b7-9731fc5800f3 CA399790170 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2804bf47-f4bd-40d8-a66c-ae9f2def01b4 CA399790170 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 262908a9-775d-4d79-88a9-0c8e11a85596 CA915940727 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bee327a6-7d63-42ea-a98e-7e7e3ce82baf CA915940727 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42d5ceb5-0bd1-4d11-bf8a-6a8dcd0e6c9e CA400029121 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf3c2359-bf67-45f0-b9f0-3f7a6c62244a CA400029121 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 927ea5e7-75bf-499a-980f-a01a4f0256cb CA400025209 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5713a218-1338-43a0-a1cb-5014924993fa CA400025209 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eab250c7-487f-4b12-9f43-2960f411a0cb CA915940728 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b558eccf-c71d-422c-b984-ac9010338680 CA915940728 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b16bf8cb-42bb-4b99-b292-d772c957d94b CLINVAR:695455 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45eadfbb-d40f-4c5f-b7e1-8d8d41c3697d CLINVAR:695455 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e191b206-9594-45c6-a969-102a2ea8d821 CA2499306877 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d73e99a6-cd70-44d8-9932-1268e9889042 CA2499306877 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34c6380a-8800-4824-9936-23cf6add4b2f CA399802112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5d726e7-4dd9-45dc-a7d1-57544c3b2a4c CA399802112 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73272463-6f4a-4eef-9f3c-dd88385415aa CLINVAR:1330311 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df5d8eaf-a5f1-4bc8-9710-0f0c4597525e CLINVAR:1330311 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fa47ed4-d90f-4dc5-88c0-ab77312faf35 CA915940726 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1a2f0b0-ed03-4bdd-8638-1bc015058f61 CA915940726 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac003f20-a8c4-4f89-90db-7de91c363090 CLINVAR:13565 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ae8a90b-be4e-4bab-b704-862bf7f995b4 CLINVAR:13565 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec055b74-2231-42d1-83c4-44a925288a3f CA626684825 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50f48f0c-5c09-488e-b8b6-df4b80e7e090 CA626684825 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5b3bd88-85af-41fe-9569-144ae186712f CA400028591 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0af4eea6-d559-44b4-a55a-61e25315fd01 CA400028591 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8642569-688d-439c-ae76-9c107014ce26 CA915940291 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5924b1c6-3ac5-4950-8e63-920cb0283a68 CA915940291 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f82e78ff-9dac-45fc-8b60-9efe98225513 CA913012619 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c159604b-a7a1-474b-8ef5-ac382da5095a CA913012619 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5c4247d-8e97-432b-bdaa-e06d4c57f765 CA399805570 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8f48528-8b3c-4fa6-a394-d82d6fc0504f CA399805570 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad248fd8-c774-4862-8aed-e9dcaf3ef134 CA399802403 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a540b94-a9d3-43c8-b1c9-4e4be937d78e CA399802403 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f92b7fc-4387-4681-ac8c-5fd5caaafe1a CA923726222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af7b0eaf-7ec2-45c3-a10f-1c81e16dad72 CA923726222 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fadec1f-a0a9-4c7f-b56b-e1a4657cf917 CA923726221 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5b4fc5b-9897-4e08-88f2-8f4a2c775ee6 CA923726221 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d1e8240-3f6f-425d-b828-a6d708fac0d9 CA915940256 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 631ea0ea-4b85-44d0-8969-10cbb4fb045d CA915940256 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0cc843e-0dbc-4895-8ec5-3818cbca9436 CA915940255 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8685605-09f4-4178-b4b3-f9d8873702f6 CA915940255 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84249a18-e163-412b-b555-374c9a3fec48 CA400032429 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f17f8627-5052-4609-82c2-23ce6225280c CA400032429 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ec4a3e5-cfbd-4a93-aa52-1a17e4722c9f CLINVAR:13556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b18c26e-46d1-44e9-bb0d-28d4bca2ba96 CLINVAR:13556 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a6bf5f5-1f44-4857-afe2-b7922536653e CLINVAR:1330325 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 754e80d5-0e14-4d62-b8bd-b0123429777e CLINVAR:1330325 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bbb3539-a2ec-407d-88fa-a2a5bbcffe57 CLINVAR:1330326 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72182340-a95e-47ab-96e0-2253e49177e0 CLINVAR:1330326 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 181c902a-76fa-4cec-977b-2c3f788586fa CLINVAR:1330327 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0c92085-5e8a-47d3-a634-2abc8120957b CLINVAR:1330327 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9185f7bc-693c-4082-aa02-3a966ae45c7c CA399801004 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ab84b88-f22d-4b2f-ae6a-84569b532242 CA399801004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ace4bf2-b6c5-4f63-99f8-2e9ecd25f522 CA915940253 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0df95919-43f8-49d2-9f88-744d360a660a CA915940253 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3f2d89c-0329-4695-b00c-4a5b717ef9c4 CA400025098 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 161f1573-f42d-417a-8af4-1bf4420da8cc CA400025098 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf7a2491-1adb-485d-b75b-4fc0c136a7c3 CLINVAR:1330333 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 207639ea-e9b9-4583-8704-83a60c93b59a CLINVAR:1330333 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1ba5d8c-2158-44a1-bdc5-5206e409ae36 CA400032983 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44c675b7-8efd-4bb7-868f-3cc1c10a6ca4 CA400032983 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 848505a4-e135-4410-9eb0-fec949112ffb CLINVAR:1330335 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87602147-529c-4756-8b6d-a2b4c4a4cf21 CLINVAR:1330335 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adcb5aa8-fd4d-4dae-b664-3fc4b8d9a2f7 CLINVAR:13562 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a1e7333-4141-4f0c-a2ec-cfc2ef826716 CLINVAR:13562 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e3e5b60-2845-4c01-8ceb-39994efdbf09 CA915940237 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d364f96-4b67-4895-91f0-c33608b99794 CA915940237 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d02042c-7053-4acd-bace-5418e98b0f49 CLINVAR:1330339 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96f07a22-68c1-4b8d-be3b-3dd2b8f6cb48 CLINVAR:1330339 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa919da-5ae7-4b5f-bbac-4fb4bceeb126 CA400021329 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 956cdf19-4d54-47ef-b642-74a85c1c707e CA400021329 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94c7cbb1-4738-4f2c-92c3-64fad28b13d7 CA915940309 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 434bdbc4-53ca-470d-bdfd-a7340653292e CA915940309 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7082d15-670f-481c-974e-e580707bc11b CA399805691 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b34682cb-3c12-45ee-a0ac-2290802607e6 CA399805691 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f726c6a-a3ca-4431-965e-4c564acab4ab CLINVAR:1330343 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a7c79c1a-c01a-44b9-ab54-0cda5a8b70ad CLINVAR:1330343 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14b188e2-d839-4934-8fcd-7b23258ec2b8 CLINVAR:1330344 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95dac7ff-7053-4f10-9f73-4618ccd8dfc7 CLINVAR:1330344 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8c8feb0-f9e4-455a-914d-64996beda929 CLINVAR:1330345 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 342274a1-41b3-4b24-b558-dc7974c69e7a CLINVAR:1330345 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee4362d0-e695-470e-9ab5-d0c6ded17899 CA399805552 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00dc2b35-c6eb-49b5-bfd6-ff37af2eb638 CA399805552 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc091c5c-17e0-4322-bed3-df9f9d8b8788 CA399796017 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d65bb622-6d87-4516-9a79-7838445da6d8 CA399796017 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fc505f5-e659-404a-91a9-21f1748bea06 CLINVAR:1330348 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8cca0f1b-4281-4e98-b818-c279b5d68c22 CLINVAR:1330348 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c6e5f0a-59eb-4350-837a-c47cfbd80573 CLINVAR:1330350 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1af2b690-e7de-4065-bdb2-d8c1bdc7fb1c CLINVAR:1330350 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25e0a76e-e542-43f7-8681-cc8a022901d8 CLINVAR:1330351 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40378127-d8f6-4bb2-885b-bdfb0f0ec278 CLINVAR:1330351 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38af7756-1e17-4cda-9f18-9bb33e9f33d5 CLINVAR:189776 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f90fb28a-271b-463c-bd74-fec853cf034b CLINVAR:189776 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f16f8d4d-32b0-4beb-96c7-2446a103f072 CLINVAR:156661 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8807c54a-31de-4fdd-ad27-4cbaa0320893 CLINVAR:156661 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a0ebc9f-ad51-4cdf-a90b-ee5b15813d69 CLINVAR:156628 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cb6ac8d5-864e-4f8e-b95d-1c780a007556 CLINVAR:156628 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa3362c-0612-4c06-8e05-544195ea19c2 CLINVAR:143700 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bbd4c4a-f059-42a7-b356-51c7a162cf9f CLINVAR:143700 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51313acd-ce2a-422b-8e6c-5e758c7e9974 CLINVAR:143563 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5655e4db-c182-4643-b292-d7e43a621cd1 CLINVAR:143563 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 313850d0-e99e-42a2-a8dd-8f64b4381d39 CLINVAR:143679 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f2ff2d1-d6da-4ee3-be6b-3bfadd5bffbb CLINVAR:143679 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4089a9bf-b88c-4b46-8de5-589679ac4125 CLINVAR:143590 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a97d12ba-e36a-430a-bd4b-c6c84adc7e88 CLINVAR:143590 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4cc9034-5c0b-46a6-ab90-35bd99edaaab CLINVAR:143583 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ea43f35-94a1-4002-babb-d1a86f8dc84a CLINVAR:143583 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbbf14f4-551f-4bdb-8cc6-459237a6a527 CLINVAR:143579 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d29b3ee-563a-4e0d-a510-25f2a5980c27 CLINVAR:143579 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a34b442-f753-4ae8-98de-ecb763c1245a CLINVAR:143564 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef60ebf9-5195-46e1-bc29-4abd5fc4408a CLINVAR:143564 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0ac03fe-4bfb-4de7-b87a-8fcc003eb856 CLINVAR:143559 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9aa7f847-52be-4f78-984a-d58f501c3f91 CLINVAR:143559 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c35c471-c811-43ea-a737-ff76861484c5 CLINVAR:143552 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a89d8757-01e3-4835-b7d8-2c1eeac01e35 CLINVAR:143552 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 357158b2-fc8b-4d7a-b09d-cfa3eea05392 CLINVAR:143546 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf25b519-c503-4857-81fa-c39b427a2c9d CLINVAR:143546 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ce9c0e5-9451-4c43-9a94-e82cc80d7fd7 CLINVAR:143541 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b893b534-d83b-4868-8f52-05730b0f45f1 CLINVAR:143541 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f55a5f-63a0-4367-838f-697dd3b1f577 CLINVAR:1334145 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79202f2f-0318-43f7-b63b-1ab406b03ef0 CLINVAR:1334145 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ebb88c-87e9-4028-8ecc-b7fb158e58b1 CLINVAR:1334147 biolink:genetically_associated_with MONDO:0010894 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5ee6dcd-996d-4a4b-90a7-938d13cee638 CLINVAR:1334147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7edf9b59-df99-41b6-b608-630b51495473 CLINVAR:1173962 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 208d6298-08ae-4b3d-9515-d890f29dac14 CLINVAR:1173962 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f0fe11d-7628-449d-9be5-125ab48ab656 CA386954873 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b4b6a89-0e9b-490b-8613-43325d4ff6c5 CA386954873 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8abe46ea-c9c9-47f3-ab19-c33083b16b4b CA386954880 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48d17679-98f5-4106-adcf-7a6a0aa39e43 CA386954880 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed4ed266-897d-43b6-aa35-13e9b5a1ec08 CLINVAR:805632 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3bdc5bd8-4d03-42fc-bbe2-9aa6660b0f89 CLINVAR:805632 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02661a1e-e4af-4d12-93e9-e4c2dd8985dc CLINVAR:586792 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2f7bb1a-bc70-486f-8d77-3b88538f57dd CLINVAR:586792 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 367e2f5e-df42-4b24-8919-975122bc8ada CA6831699 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d67a6ba2-b93d-4fd5-ab67-96019524f8c0 CA6831699 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1704208a-5145-40c0-8547-6219c5c13b4e CLINVAR:36826 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d5f1385-3a6d-4a7f-bbe1-778aebea6935 CLINVAR:36826 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd8d2ad4-5a99-4d20-bb9d-d75288a55d43 CLINVAR:420064 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f45f5161-d854-4715-a354-abee718e9df3 CLINVAR:420064 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ccec722-55fc-463d-ac69-3a572e0b95df CA386965163 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 52e7d4a1-a79e-45d9-b0f8-38b99cca97cd CA386965163 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcbace3c-e00d-4461-9ea8-0ab6a32271d4 CA386965448 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cb6aa77b-712c-48ec-b4df-235881a9426c CA386965448 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61874a52-cc28-4406-b33f-baa91c14bcd1 CA386965434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4078b1d7-2edd-41f8-8bb3-e6882fcf83ff CA386965434 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fe13be8-0318-496e-967f-5f2192f0f5d6 CLINVAR:972754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9340925b-a367-4df0-87e7-f5ca907fd784 CLINVAR:972754 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54c11dcb-a0cb-44ce-bc58-9487512c104a CLINVAR:447499 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 928d7089-f9e5-4bdd-988f-b40c4beb85fb CLINVAR:447499 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3590ff2e-146b-4711-adf4-602019fe66d8 CLINVAR:435424 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1086d5b4-7121-4045-b25e-cf1d3ccb3fb0 CLINVAR:435424 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 949b518c-6c9a-418a-8e90-72c4d15c59df CLINVAR:972814 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d1520c2-5c4b-41e6-94a2-4944893afef2 CLINVAR:972814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6f6b518-e384-45ba-920b-835e59841ebd CLINVAR:805637 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 210205a2-527a-454c-af7d-74e5f18b57c4 CLINVAR:805637 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccfa26c6-3452-448c-8014-2cb376ad5f4e CLINVAR:129226 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1df194e2-a579-464a-9252-b43c1badb145 CLINVAR:129226 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24ba4d86-d749-4f0a-9e6f-8188f56e6c40 CLINVAR:36796 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b7ac57a3-d6d0-46e3-b019-d25f9ad64d8b CLINVAR:36796 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e05f043a-5694-478b-ad35-7b785535019c CLINVAR:435426 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 441d7d78-b68e-46a6-935e-10558e23f398 CLINVAR:435426 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19a5886b-8a6a-4e97-8a72-66fa4132c229 CLINVAR:36797 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9acdd886-520b-4980-960d-3ee23ca83ad8 CLINVAR:36797 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a52543-077a-48a5-805e-a91d92cb636c CLINVAR:14928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5eb33672-acfd-4d15-8691-b3b0cad8a842 CLINVAR:14928 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc8fa802-de50-44d7-b6e5-98fc466a781e CLINVAR:435427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ec66dd2-392e-4c31-b2a1-6d0a0e14aeca CLINVAR:435427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3df791fd-31a2-403a-a307-bd4f701040be CLINVAR:489311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79513373-d096-48d0-b64b-512b5dff9bd3 CLINVAR:489311 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce62635-3817-4846-8548-05d65b348fbd CLINVAR:449404 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4115fab0-ad84-40f1-bce0-71996641fafe CLINVAR:449404 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daf04618-508d-44fa-993a-a047cc97b6e3 CLINVAR:14947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a66d34c9-3c1b-4870-b824-02b1a4ae22e8 CLINVAR:14947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4843f5e2-94c1-4151-83af-79643c8d44d8 CLINVAR:156667 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f91f07b0-11bf-4a89-80ec-046a679dbb8d CLINVAR:156667 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 515fa5bd-315b-4533-846c-681326ac71c6 CLINVAR:440546 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b85b4a4-ced4-48ff-94e2-cdc89bf14168 CLINVAR:440546 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 984300cb-59dd-4dde-af11-7306874e5c2d CLINVAR:440552 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 650f335e-4368-4409-8034-954abff18358 CLINVAR:440552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625dac16-ff8c-4a7a-9a08-bb7692543613 CLINVAR:161266 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 50e40344-c5a1-4a2c-a8eb-161153d4e1ca CLINVAR:161266 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d038501-6ab1-400e-aea4-bcfb53dfc9cf CLINVAR:251213 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfc5956c-c33a-4cd9-b9b5-e92766cbd01a CLINVAR:251213 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9748a226-dd6b-42c5-80b4-f88dd49caa91 CLINVAR:251340 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ec47e1a-4560-4b60-815e-15ab5ee7dbe5 CLINVAR:251340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed8a962-72ba-4ebc-9129-365f3db0a478 CLINVAR:430763 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f687a65-d2b9-43d4-b53b-9a61cb8dabf4 CLINVAR:430763 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1f73f88-d12d-42c6-a713-e64091ece0e4 CLINVAR:251471 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f89cbde-7df1-4b71-893c-cf342966d55f CLINVAR:251471 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7f49292-b3d6-4182-8252-6305bff36889 CLINVAR:631358 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abf1d987-e874-4bd9-aae6-ef3afc73889a CLINVAR:631358 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a77ce015-4fa0-4129-8d3c-a678acc34d99 CLINVAR:252137 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e9bc34f-437c-4c5e-93cc-b93e5a794871 CLINVAR:252137 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7470d9a5-4649-4244-9150-00293126ea52 CLINVAR:161277 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f18dfc2-9a96-4b53-aa60-3bad7cd4c37b CLINVAR:161277 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a57515dc-2e07-4e50-bb91-b4d48f1f6949 CLINVAR:373430 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21e6c7d9-7b81-4780-9062-2d2518770f1e CLINVAR:373430 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ec3e678-552b-436b-8435-c4c772e8a500 CLINVAR:251739 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6559dcde-ff69-4a7a-9eea-0aef6347e7d4 CLINVAR:251739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c9389a2-e3ae-4ae5-b382-5ddeacb075b5 CLINVAR:251740 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 870f99b4-7aee-4617-aedd-6e98dcbc0646 CLINVAR:251740 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9c208b0-d566-4960-9ae3-7829e9f08af2 CLINVAR:431524 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4752bb7-c899-42c2-ab65-b153fa44e7b4 CLINVAR:431524 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1c88e50-aa70-4b9f-b20c-6527fd6a7a95 CLINVAR:226313 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f0363548-f956-426f-89ee-30a21f1330ee CLINVAR:226313 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5af3951-901c-450d-b779-5d00f1b77dba CLINVAR:251107 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 88e22dfe-7bfe-413b-83aa-951ff8e65fc7 CLINVAR:251107 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09910d56-a4c6-47b4-92e4-8ed62f085b1d CLINVAR:1334146 biolink:genetically_associated_with MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98934ae4-e0ef-4704-86f2-66715522b1bd CLINVAR:1334146 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1144d835-f874-44b2-923c-67e361d3317e CA405685492 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 672ded1a-c6b7-489c-b4b7-9be671110003 CA405685492 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b990d231-4819-417b-9322-5478137a7bf4 CLINVAR:1330371 biolink:associated_with_increased_likelihood_of MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0fb0a84a-0429-47e2-b657-93d9c70706b6 CLINVAR:1330371 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 077b8b8e-3c43-400f-b37a-fbe0840cad80 CLINVAR:133100 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen beea6318-10f7-4f62-8a65-e208e391481c CLINVAR:133100 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f089d995-ef35-47ba-8633-d4486281b627 CLINVAR:65986 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfb40abc-1094-4e90-9c06-6d0a3c4151a7 CLINVAR:65986 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cec3cbeb-5a31-44e6-b8d7-8573499d8c06 CLINVAR:1330372 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55b4d7fb-c4d0-48f5-abb9-bb57f5218f28 CLINVAR:1330372 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 062336aa-2a4c-4446-a0c8-8d0e9dead97f CLINVAR:161366 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42a1faec-86ca-4636-b92a-67bbfafdedd4 CLINVAR:161366 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1805198-c0b8-4b67-9878-4d33402e4bba CLINVAR:133164 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 04ba25c0-11c4-47fc-8aa8-c3b9246e2981 CLINVAR:133164 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55a64061-70d9-4203-9f3a-308d1cbf5766 CLINVAR:12984 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7cbc33b9-60a3-4b5c-8e03-3f063f640113 CLINVAR:12984 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09f40966-fcfa-45b1-abd0-575308c86e24 CLINVAR:374083 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d91b1f1a-4622-42ad-a59a-39531ce16956 CLINVAR:374083 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c037e082-4f44-42a4-8f9c-b8796dedc5f3 CLINVAR:12982 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2e657be-7802-4707-9e54-9878d9d18ea4 CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16463ebe-5860-4199-9faa-6b6345e4fcf3 CLINVAR:159865 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd211147-9d6d-48a7-bfc7-50218539b660 CLINVAR:159865 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe358bb-2e7e-47a3-ac75-0761050149d6 CLINVAR:329095 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4da7a668-6885-4fde-a38e-3589fce8c132 CLINVAR:329095 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7596c8a-2477-492c-a08d-80b421a5201f CLINVAR:12972 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a89b07d1-05f2-4d60-bff0-61abf037ceb4 CLINVAR:12972 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 834b86b4-80e4-4e50-b524-a2e756666a13 CLINVAR:188773 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df68f9cc-0c6e-4e11-8db3-8d1a907db261 CLINVAR:188773 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 434a27a3-9457-456d-a213-6685df37c78b CLINVAR:371126 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f56edafb-02f0-47ce-9396-c8fca265641a CLINVAR:371126 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d861579c-4499-4912-9101-bc40ab34ac51 CLINVAR:933520 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e19f1484-51e9-4ea2-af03-eaad2881d0c9 CLINVAR:933520 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45d2bf5e-2f45-4d43-b445-8394b6c298ce CA401360532 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06a94c55-3e36-44ef-8659-914c88de5031 CA401360532 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a551d0e2-5585-4964-a779-6ba80eb47e15 CLINVAR:12977 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63a6cf92-6e35-402c-a76d-057078734b98 CLINVAR:12977 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f340dc4d-b67f-4de5-9a97-9386faa49015 CLINVAR:12971 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f34e61af-075b-48cf-a2a3-d24a8379ff9a CLINVAR:12971 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea200343-eed6-409b-959d-8fb2cb4b0a3b CA399805999 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cedb6ec-0969-4d97-b861-bd9253992a06 CA399805999 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adb27ffd-9972-45ff-906e-562afc94147e CLINVAR:1342944 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f35ddd04-8ca3-4744-9bbe-2436c1d0e97c CLINVAR:1342944 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7844621d-feee-4183-9a5d-063d411da2ba CLINVAR:447502 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b72ca606-69f4-45a1-8840-76ddb21afbef CLINVAR:447502 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3728ad29-0202-4634-9355-7ed3b029364a CLINVAR:251582 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3b9fc13-7398-4225-a94c-225920a143a3 CLINVAR:251582 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31c7436c-1138-40a5-acc9-7309078db31c CLINVAR:251812 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4e922ff-c31e-41e3-b4ab-70b78181ad49 CLINVAR:251812 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 499bc393-52a8-4b45-974e-f7be6895f020 CLINVAR:548076 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4a6915f-6fe6-400e-bb7b-6adcda1cbf01 CLINVAR:548076 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10d5df43-08a9-4a2e-b8c4-ac0749dcc882 CLINVAR:440642 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3fac077-24af-44e9-b95d-b51ad91ed9ce CLINVAR:440642 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a29a1c6-15e9-4e9b-b0ad-0e6449d8c309 CLINVAR:375840 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66078fe1-7f5f-4450-accc-19d95771c566 CLINVAR:375840 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43d1ba56-63a3-4e42-8b8d-019829a25069 CLINVAR:963080 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b608e11-6e4b-4f4f-9653-9afa2578bd8f CLINVAR:963080 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f3eaee9-709f-44bd-8de4-015bcc3a707b CLINVAR:183126 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9b020c7-9e1c-4765-9156-fc6e7ae2dfe6 CLINVAR:183126 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 120e2d49-ee2a-4330-b657-2e4912ec5fac CLINVAR:252029 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abe75736-c061-4142-9a72-fd2beb02ca42 CLINVAR:252029 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac19000-9ea3-4ea7-af97-f7cc8a989353 CLINVAR:293715 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ff54341-db8b-4d66-8155-073881e0bbb4 CLINVAR:293715 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3d0ee43-742b-4767-ad34-7ded85be77ce CLINVAR:1342952 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 562e134d-2de9-4d5a-8172-2a5bb048093e CLINVAR:1342952 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29e6edbb-de33-4189-8fe5-65dadc3140a0 CLINVAR:1342953 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b87039d9-d694-4afa-ac8f-51ac0b7b4f0e CLINVAR:1342953 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edad0afb-8243-4a4b-9fce-1a8c770aaf5f CLINVAR:1342954 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25242141-2426-41d3-9e97-5b8f0461ab56 CLINVAR:1342954 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa1aeef4-fa53-4845-a825-b8d4e551d99e CLINVAR:1342955 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 050c76d0-8afe-4a7d-bff1-2219c43d9351 CLINVAR:1342955 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab33d615-7a10-4829-8863-1bd23cd79d08 CLINVAR:1342956 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfaa8978-8362-49fb-b321-53df8dfb2e5b CLINVAR:1342956 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3ecbd4d-97cc-4737-bfbf-635cad07422a CLINVAR:102812 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4105c88-efaf-4fa2-827e-a16e3b402d52 CLINVAR:102812 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 767990a6-1bc7-4b58-aa01-4e4108ac3251 CLINVAR:102887 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ded2ae0-f3a6-44a5-a14c-56c267fe7137 CLINVAR:102887 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b61e53a-b808-42c9-bdf8-8187cd2a00bc CA386954870 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b5a9127-1a25-4ce1-8d26-a3b916820880 CA386954870 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00e54edf-bf9e-46f2-904d-12799697c282 CLINVAR:1342958 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b60fb313-2ee0-4152-a2bb-5111249b39a9 CLINVAR:1342958 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c9c71f5-1561-458b-8ce8-58e2b5b69c22 CA16020959 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b894856e-766d-495e-ac8d-0493ba5fe51b CA16020959 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b72e0722-879d-4f97-bfff-e41fe38c2059 CLINVAR:102923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 877af793-4cdd-4909-9c04-12315f3f9c80 CLINVAR:102923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a257b80e-f262-4d12-a9f8-61033cf98949 CLINVAR:102862 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 655e9e66-f603-4f30-9e8d-6f58ee5c0515 CLINVAR:102862 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02d6bbe3-be5d-4f4a-b790-94cf034a9968 CA16020979 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e512362c-c6da-4b31-8fab-97c8b7359085 CA16020979 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdb7442c-083e-4181-a866-77f3b9965700 CLINVAR:102468 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d97903e-fcfe-4c4f-b9ff-bd4489d37737 CLINVAR:102468 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d9efa7a-ec97-4a27-97ee-35e5c726f077 CLINVAR:102790 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e5aecb9-0f30-47ea-91c0-e3dcf4474ced CLINVAR:102790 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ccd33c0-c7c5-4b2f-b75a-a7b427a9ec60 CLINVAR:102791 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c549d792-65be-4cd5-b19b-d3f03fc3317e CLINVAR:102791 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 798a1ad1-a245-4651-8c80-06c4bb27ce17 CLINVAR:102801 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db615311-0bd7-4866-a713-da7329d40327 CLINVAR:102801 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6be0d4b-4161-4cb6-b467-98a193943833 CLINVAR:102802 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acdec25e-e8dd-4a30-9100-6d7ff14dfa0d CLINVAR:102802 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 538eaa72-f9c9-4295-bd57-76f826db1a7d CLINVAR:102809 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1fa4fd0b-cdeb-4178-8463-b14b03abd58b CLINVAR:102809 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ddaf47c-0b2e-4e01-ab5e-4dec2b863eb3 CLINVAR:1342195 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3bcf26cd-23c0-450e-91fd-64b9852f5d9f CLINVAR:1342195 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d79b1a1b-f232-4637-b920-90fbba04dfb5 CLINVAR:1342208 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cab8511e-b382-4938-9973-c005ce370686 CLINVAR:1342208 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca08d2a-7ad5-4d95-aaf4-bc00af975d73 CLINVAR:1342209 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35f7a345-034b-4338-8a9e-d09983732d79 CLINVAR:1342209 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12957e15-194b-401f-bb1c-1476ac891a63 CLINVAR:7959 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82b30670-89f5-4edc-bb6a-dc40697376fd CLINVAR:7959 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74d88d5b-b9c6-44b2-ae51-412cdb273f8d CLINVAR:1342210 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f6db0c1-f869-42fa-9389-f3f6b1667348 CLINVAR:1342210 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 542c3df2-727d-4af7-8718-f3eebe6ccb98 CLINVAR:1342196 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89c85144-56da-4a8a-8de4-f10868aca0b9 CLINVAR:1342196 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a95bd08-64fb-4c16-bf04-2d26019df56d CLINVAR:7960 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed271e00-351d-4916-84cc-5349c1581551 CLINVAR:7960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f84af1c-c213-46cb-a802-b6f8247c7682 CLINVAR:1342197 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e93a1ce6-1137-41a5-8e5a-c91fc99d798f CLINVAR:1342197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57bfd2a9-dcef-4b86-a43c-e79224e00863 CLINVAR:1342198 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abd30e08-cbdc-4ec7-aef3-716963736436 CLINVAR:1342198 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9192b15f-00c1-4093-a716-345818efade9 CLINVAR:1342199 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3af69efa-5176-45bc-8f4d-45d1aeae3e0e CLINVAR:1342199 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc13f5c5-60f2-4ee1-9f4a-7aa1ec856f83 CLINVAR:1342200 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8bcb681-8226-4c0f-9ca3-076ff609eb5a CLINVAR:1342200 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f181e622-d6cb-4130-a2e8-6bad81f46881 CLINVAR:7947 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d276c7fc-3b12-4ce4-be8e-9b06d72b0953 CLINVAR:7947 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04148702-2801-4baf-ad45-f010c4585f36 CLINVAR:1342201 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5dd8ff4-d1ce-4f1d-9c30-010f0cdc97cd CLINVAR:1342201 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cfce0ec-0922-4cdd-a1b3-73592728a21c CLINVAR:1342202 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc7ca9f1-2a4f-4148-bb47-2b65e85ecc0a CLINVAR:1342202 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99dd1e7-361e-4f3d-a852-afe5aae43938 CLINVAR:1342203 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a01164e3-e98f-4d0d-ad4b-032b6316194d CLINVAR:1342203 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba5990a-f833-4782-8be4-3abca2cf66cf CLINVAR:1342204 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 366c5fcf-f7fa-41b1-a220-d609eb7ad8e5 CLINVAR:1342204 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb523a05-2d35-41af-8aba-138ea1f0cd2d CLINVAR:1342205 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6c1f24b-c720-4c15-9617-dc972b672d67 CLINVAR:1342205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c045b4ce-4584-4690-8b48-41832544a3b1 CLINVAR:1342206 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f75131b-8b81-4f7a-b0d3-60740b7a0521 CLINVAR:1342206 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5d76a6e-e44e-48c9-9f04-77c09ff5e917 CLINVAR:1342207 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa659aa3-c850-4749-a62e-f0ff0ce11fcd CLINVAR:1342207 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5468ad0-6ece-45ad-8ca3-e6de1a4cd546 CLINVAR:1076425 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08c7657f-53a4-405b-ba28-46a8c0ce6f1d CLINVAR:1076425 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 645100a3-841c-4065-a468-14bd50fe4e76 CLINVAR:617952 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 437f4f7f-a4e5-486b-bb5e-3bed7bb4c864 CLINVAR:617952 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2adc9748-b116-43fc-bf5f-1f215b1cf670 CLINVAR:447493 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6dc91235-13fb-41af-a152-cea80df3c4e7 CLINVAR:447493 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1a8d758-c244-4e41-992d-2bd774352920 CLINVAR:1342945 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e8eee7f-6129-42b6-9ad3-b528d0b82d2e CLINVAR:1342945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e23fdfd-509e-4fb7-ae38-e388b339ec46 CLINVAR:189172 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9e13036-3175-4de2-b5b6-150a0b1ba097 CLINVAR:189172 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b2490d5-6784-42e1-994d-930282f6fde3 CLINVAR:558634 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6392a5d0-931e-400c-b683-488b6487835a CLINVAR:558634 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84aa2bdf-c814-498c-9b3f-6f31dc61d8fe CLINVAR:558604 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26f3645d-d006-4f1a-a73b-31e68e28148f CLINVAR:558604 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d0e4e5b-715d-41b0-ba11-99920ecc569a CLINVAR:1342946 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1be0da97-ddce-4589-b3d1-314df49bb3f4 CLINVAR:1342946 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd9399a-c153-4bb9-a740-2fd1f24834e5 CLINVAR:1342947 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b59f4fe7-7e78-47b8-9361-db8366783af8 CLINVAR:1342947 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55b22d35-e242-4b66-b14e-85c522908489 CLINVAR:307454 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f38362e-1d23-471f-962f-2f1e4e3c60ae CLINVAR:307454 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ad566e8-e515-48d8-8b6d-42f047547f2b CLINVAR:1342948 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a607b2d-d099-41ca-b159-35c43a2508c6 CLINVAR:1342948 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d78be4a-dfea-4f99-bca1-77f62a6fa4b7 CLINVAR:36814 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c129f3f-b370-44fe-bbb8-7fe120e14fcc CLINVAR:36814 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3541e228-70fe-476b-b5f5-444ef514404d CLINVAR:502525 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 812957fb-10af-45cb-b523-42dddc78e481 CLINVAR:502525 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321deb59-6e11-44a0-afd4-e1880522cacb CLINVAR:1342949 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d9f1b41-8570-4238-b1a9-4f0eef33f69f CLINVAR:1342949 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a73340c9-4305-47e6-8064-dcd1cf87c1a8 CLINVAR:1342950 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6a159c9-6f79-437f-8f72-ba142429d9a8 CLINVAR:1342950 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d86f20c-4119-411f-870d-d5300509c125 CLINVAR:1342951 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 841d3e50-d960-4186-8ff6-734fd76d66f0 CLINVAR:1342951 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d55027e-73c2-4b7d-89e6-b71bb42fd05b CLINVAR:631580 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff075257-cd6a-4cbb-8f9d-e7d376ff6063 CLINVAR:631580 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20f60906-97da-4d17-960e-1f68486628dd CLINVAR:1342967 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83dae59d-7f9d-442d-9d89-ed4011ce007c CLINVAR:1342967 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc6e7362-cb93-497b-9677-9a5204720033 CLINVAR:1342968 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc42e1c9-2573-49ce-82ac-5a3c4b4cdfc3 CLINVAR:1342968 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ae3b3fa-ea8a-4e4c-98bd-813dd7277006 CLINVAR:1342969 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f076a4b0-97e0-486b-9ce1-4947eadf78dd CLINVAR:1342969 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3add276a-9125-46b1-9b7f-0990995cee6c CLINVAR:1342962 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27aacfa8-cdb2-4a12-9361-1948e09fa370 CLINVAR:1342962 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a912df05-aca6-4795-b894-43df09d4cc06 CLINVAR:1342963 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f06aff9f-99b7-47d4-85f0-14ed9631289b CLINVAR:1342963 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a36d50b5-70ce-44e6-8f37-04bef15c0214 CLINVAR:7949 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef030005-cea7-406b-a13e-4affdbcd760f CLINVAR:7949 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ff91be-765f-4bb4-99de-7dc5685ba125 CLINVAR:7948 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 589baa7f-e9ac-4e7d-9652-70bf741bff49 CLINVAR:7948 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3205db0-3ed7-44f8-81cf-3e79d3eddbd2 CLINVAR:7961 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd79d073-0d4d-4900-bd0d-040e16358cff CLINVAR:7961 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e8feeb8-7cc0-4b66-a76e-3a78ffbe33ca CLINVAR:1342964 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5904f33-869b-4cbb-b9db-73631ee92ffd CLINVAR:1342964 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b2ef2b5-9e81-4c5b-9d82-44439706605a CLINVAR:1342965 biolink:associated_with_increased_likelihood_of MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 716997e3-fdba-475d-a680-dfa32be279a3 CLINVAR:1342965 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1306bb0-95ce-4a0d-b3ef-88d1df57c2a7 CLINVAR:1342966 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2997b849-9cda-4a5f-a1e2-37a4272649dd CLINVAR:1342966 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fe61b6f-8927-45c9-9b76-ddbdc0625db6 CLINVAR:7946 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 117aa6e7-8e89-4d53-810b-a890df3a6cb5 CLINVAR:7946 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc5f2c5-1c3d-4495-a52d-9bb091a03ee3 CA397726277 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 465121c3-b284-4807-ba23-c5a37511bf2f CA397726277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ffc5b0a-f38e-4f5e-bc66-042609369b8a CLINVAR:554491 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ed9bbda-aeab-4044-a297-ae0ddc9924e5 CLINVAR:554491 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b470d50d-e188-4b19-aae9-4fb8238a6e39 CLINVAR:189159 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d45480c0-36ad-4a15-b883-2ed76523d58a CLINVAR:189159 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f91e0dda-91cd-4940-be3d-c0d3df732208 CLINVAR:474900 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31242866-bad3-4d3e-8ae6-ef56379aaad1 CLINVAR:474900 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cae85e21-5604-466d-ac74-bd68483152f1 CA624861219 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b59fbc6-96bb-4456-8363-10569d0a5d33 CA624861219 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9f1bdc3-c52a-4ce9-9b2c-bf171f4824e2 CLINVAR:386274 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5111a1f6-0690-405a-ada2-895195e3b310 CLINVAR:386274 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d309779-60ab-4db7-b651-48780bf479e1 CA397723028 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5fad3dd-f5ce-48be-8746-07b8c1489e9e CA397723028 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b0e8a9d-b016-4c23-86b6-b7a1162a2363 CLINVAR:141522 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7cc11771-db42-43ea-8b73-b19629e7b576 CLINVAR:141522 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3c406c7-cb5a-47f4-9a5a-2966eeb60e7a CLINVAR:453341 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 907e0248-18e9-4c38-9500-909ce49a9643 CLINVAR:453341 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4af81f6-d4d0-43b7-aeaa-8d84d78d3212 CLINVAR:583716 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e982c82-94ad-42dc-a94e-60836a7bba6a CLINVAR:453461 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df55b1f4-2ccb-420b-bd47-ab717ba45fe1 CLINVAR:453461 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5128f21-277f-4dce-bc7a-5e65c15c4bda CLINVAR:231535 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0cb5de24-ee0e-44f4-af56-f4a4f593592e CLINVAR:231535 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 024c468c-7af1-4b26-a412-aa71cc7dff08 CLINVAR:3018 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0984a3c3-fd6f-41b6-b4d9-d79c451f56b0 CLINVAR:3018 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b17896e5-46f1-4221-9863-42d34f1fcd7b CLINVAR:3033 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 716c467b-df1e-4052-9092-6e6404904646 CLINVAR:3033 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24185538-f9d4-4658-89df-03522a61596d CLINVAR:818362 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5acb5aa-0fff-4581-b47c-a37a9d7ba7fc CLINVAR:818362 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e47af49e-bf92-4f97-ba0f-07156ff50c3a CLINVAR:140818 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df1e6c3d-3abb-4e0b-a4d2-df7e34525835 CLINVAR:140818 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ffcc2ac-9fd7-4a23-8275-78e5dea1649c CLINVAR:407718 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb09963f-1341-43ab-9bc6-0c5675ec9a48 CLINVAR:407718 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f672b8d1-b1f2-4ee3-87ca-b7c35e0b5662 CLINVAR:929198 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebf6cc78-84fe-406a-bf36-e2287e27dd73 CLINVAR:929198 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efe99e7c-6a87-42a2-a3b3-f86c1a0718d8 CLINVAR:220555 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30cf922f-29b3-4f17-8199-6d9d64eb6250 CLINVAR:220555 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a329e124-a887-4ee8-8339-d5e39ff54076 CLINVAR:186558 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2859e8e5-445e-4bb0-b69f-7074ecc71c3b CLINVAR:186558 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7719968c-4e8e-4404-998d-2e42815c6559 CLINVAR:231842 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48f85dfc-6232-4727-81a5-ce40158ed8a2 CLINVAR:231842 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d333d76-d022-4a24-b126-51a9a97b0d70 CLINVAR:490737 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46a1def5-d003-4923-bab7-4d6c481ede4d CLINVAR:490737 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e488d601-1611-4867-8686-3479eb3b0113 CLINVAR:3023 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ba34337-a44d-46bd-a52c-9a95524cf45e CLINVAR:3023 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cf2c68e-5bd7-4930-9360-8aadf72bb378 CLINVAR:133641 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1381dc36-f30f-44b7-9522-c48074d2cea9 CLINVAR:133641 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf0bc70c-ed5c-483c-bf07-cbc6bb347527 CLINVAR:420799 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 71f69059-a59c-436e-bff5-0fd958a4bb83 CLINVAR:420799 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa7220d-e31d-47dc-9b27-1fda38043634 CLINVAR:187275 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ced93b75-8710-4259-9347-d380ae50ae40 CLINVAR:187275 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 463e06b0-7a16-4a2f-ac96-31a28bd6dca9 CLINVAR:141289 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31503672-0cbe-49cb-a714-be3587c0d160 CLINVAR:141289 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d09787-6c7b-4d32-a6e3-35693462f70e CLINVAR:3029 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab68d798-2056-4bc8-ba99-0a74f100b2bb CLINVAR:3029 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 926970e4-a9d9-4ab9-8253-a3c85b8f000e CA16020825 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b7e9b0e-6c34-403a-8706-2d7ccadd8ca7 CA16020825 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e7daee3-198a-45d6-9c18-dc3ebfa01c8f CLINVAR:102534 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 996d0c31-3dbb-46ed-acf4-d379e1480c32 CLINVAR:102534 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c43b94a-eb1e-4f1f-904a-7b7abd4c13a7 CA916084428 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09cfcbb9-0e4a-4a13-a0e4-dcdf9dda1db1 CA916084428 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2739a4c2-919e-4ebe-b992-21857a564a6c CA645372267 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 577fb2e3-026c-4fa1-9713-a59f679c9ce7 CA645372267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 835e42d4-f7b3-4639-bd33-b1e9e5987cd0 CLINVAR:102820 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8f34c18-ec59-4dda-9181-5052b50f4175 CLINVAR:102820 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce025e06-95c4-4b8a-9aee-b967a571b090 CLINVAR:102813 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0e833f48-fa77-4cb4-84e0-0eb60d732105 CLINVAR:102813 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e86823c-6cb5-451e-95c1-321a0d88eaab CLINVAR:102822 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4911ba5b-d21a-4576-a3ac-f099a3a2d857 CLINVAR:102822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38028fc6-a0a0-4063-a76c-1694d47130ae CLINVAR:102830 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e236980-db2d-415c-894a-37940b6d33d8 CLINVAR:102830 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16afa4f8-7f5e-4f7c-9a10-4b1cdb9edb93 CA16020852 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4e2727a-a104-4dbf-8547-e015df8fecb9 CA16020852 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d23a402-8f11-4b87-8461-670dbefe168a CA16020845 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 71cd34c1-47c8-46f3-afdd-02594d31bf09 CA16020845 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b8ef75f-3c27-4af0-bd90-f1405a040e99 CLINVAR:650581 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c559f8c-ff2b-4f03-ac7e-08f249d9fd56 CLINVAR:650581 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 925c6956-a586-4ece-9b29-d904630845a1 CLINVAR:453367 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54de0a3c-0893-4cb7-b0da-0cebaf3a891b CLINVAR:453367 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee1344df-8bbb-42df-b041-6d5a96b9ad15 CLINVAR:449521 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2191103b-776c-4c93-8240-1e6c6bd06a5e CLINVAR:449521 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0870fef9-4094-46a9-863e-e1b03de35fac CLINVAR:562372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d071db69-dfdc-4fd8-9a6a-11b945a728bf CLINVAR:562372 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b535f365-4208-459d-93f2-733170279c37 CLINVAR:40153 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 13947815-7282-4cf4-9701-5a240caf664a CLINVAR:40153 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a46a60f-81cf-48d3-ae19-b80f91d29933 CLINVAR:9650 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0caf63ae-31fa-4a43-8891-de32cc41bb4f CLINVAR:9650 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 581f94d5-b4d3-494c-8b6d-70ffc308cfd2 CLINVAR:9645 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b3db342-cc27-4faa-93ca-a71e3f779833 CLINVAR:9645 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a687a355-c266-43a2-a435-b2fa7d3a053c CLINVAR:9733 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11a43040-366b-4fd5-a933-a8cbfa92aec3 CLINVAR:9733 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d6f627a-e3a5-4c26-bf1f-4a24b6dbaeba CLINVAR:65519 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f7397a3-aa28-495b-87e0-ad882e46324a CLINVAR:65519 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 495dc686-3626-44fb-a1f2-55426106cdcb CLINVAR:9736 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04a5e6bc-4ad0-4384-80a1-634798613bc4 CLINVAR:9736 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a9ec367-8800-42a4-a755-a977be7ac15b CLINVAR:1675057 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b808b933-3281-4153-a9b4-c5b6e13db26b CLINVAR:1675057 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdbb2e8b-7dd4-4a89-b965-dabcedc56a69 CLINVAR:1338407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6967b356-18d0-47ae-a2ec-92db02b816cb CLINVAR:1338407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83ce5c8b-37c5-4aeb-8bb5-2eed2150005d CA386952304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 262763d8-6f66-4df1-8aa8-29cf14b6a435 CA386952304 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd9aad7f-0b1e-4b04-8af5-d351745272a2 CLINVAR:994546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4700e2c-4ce2-4602-b748-885743f8cdd6 CLINVAR:994546 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c617b0b-5474-4287-839a-9d132f1ac0d5 CA386952326 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b206c12-a9e8-4466-bbd8-3bfa17057f2d CA386952326 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88727ea7-455c-4c58-b4a8-e090ee3250c4 CLINVAR:307455 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07588456-c14b-4126-9960-95b868f90dfe CLINVAR:307455 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e67c155-9cd1-4f6e-9904-182b84f72b04 CA386952398 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41c7f43b-f1f5-4e5f-ad1d-d7d7bde9f8b8 CA386952398 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d9eb75c-43bf-40a5-840f-d8f3ad1c4634 CA386952410 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a326a9f6-6497-4838-8b17-3bb61108ee8a CA386952410 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c775dad9-a058-4a14-bb61-f834c8893f3d CA386952411 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d913bb7-59e7-41eb-af77-517a62707d94 CA386952411 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb4f1645-88d4-4ff2-9bb3-c40f539f46e9 CLINVAR:435422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 899dfa44-79a4-47e5-aea5-3c175140abed CLINVAR:435422 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 235ed9ee-0b77-47f9-b8cb-f273e2b3403c CLINVAR:12976 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9c72559-731a-4eff-9f4c-125d24e21534 CLINVAR:12976 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc497c33-51c5-4074-aff4-f8b740bca987 CLINVAR:12967 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ddc5999f-99e8-42a8-891b-ab6005e413f4 CLINVAR:12967 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9bb59df-77ec-4d7a-a513-c4ea737ed0ff CLINVAR:133029 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d15bb39-5f39-4dd4-b348-bb8755870b99 CLINVAR:133029 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4905842f-f035-45cb-89fa-468c88cccda0 CLINVAR:133106 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47d9ca5f-458e-4463-8217-9e66d151f71f CLINVAR:133106 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321842c5-8aee-4f27-a884-0edd9238e499 CLINVAR:12974 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76913032-7e5d-4a45-b64e-4364754bcba9 CLINVAR:12974 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1f9953-932e-4898-8065-cbb245c40a80 CA386952412 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f21bfc13-81a2-4500-ad9f-0e62e9956e8b CA386952412 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cef290f2-bbdf-44c5-8e5d-82245e4377d8 CA386952415 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ec75607-51d2-45a8-852d-1cc226ddde46 CA386952415 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 876dcaca-38a2-4733-babb-b4835baa6874 CA386952464 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e650331f-c406-4c1a-bf99-0ffab17c94a4 CA386952464 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db325f18-de2e-4203-981e-7c2a65634669 CLINVAR:307456 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16d34419-998b-45b1-8ccd-761f723a78f4 CLINVAR:307456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 664b2fa8-db26-4927-94f7-eadfaba76c8f CLINVAR:251552 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c59c113c-e490-4645-809a-109552117f1b CLINVAR:251552 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ee344ed-5bc9-4f51-a1e2-8c0c4ae2079c CLINVAR:996231 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f98cbe33-0f47-45df-ab90-1c86d6252776 CLINVAR:996231 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 840b3321-87e6-4bd3-a78c-7b6acabef84d CLINVAR:225097 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b49b9b69-92a7-476e-bc36-e28dc7a8a137 CLINVAR:225097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dec87ae-af61-4409-8b12-b248f326e13c CLINVAR:251747 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0e036f6-75c7-44da-9893-29e6c3d90f40 CLINVAR:251747 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b8892dc-0a4b-4d2c-a4a2-4dc235c118d3 CLINVAR:183123 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddfeabb1-bea7-4d9c-bfee-419bbcf2a1c9 CLINVAR:183123 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca3f1e2a-56c7-464d-a904-be3acb4ccef6 CLINVAR:251996 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98f95647-afb1-4d34-a234-1eccd0ca4fcd CLINVAR:251996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96cce706-660b-4151-aeeb-88c0a518dce1 CLINVAR:237867 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab9ce844-cd94-494e-ac78-c9ccd64b1f8a CLINVAR:237867 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9512aa8f-dca2-45d8-90b8-a091f187cac8 CA2573051031 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 708cac60-223b-4d17-9b70-66d770df7c52 CA2573051031 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9731596-c273-4d9b-9951-ac8940e13b7c CA386952499 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80f440ff-713e-4c27-8e7d-699c7b18d424 CA386952499 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 898cf177-e494-4a8c-892e-7c1c8b4ffdbf CA386952505 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c517f0c-9ef5-4428-9db2-c4002ff7d554 CA386952505 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13288262-44a8-4eaf-94f7-d060765621dc CA386952516 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34f8c6b5-aa85-4c95-9d62-f00003fa3ea2 CA386952516 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b08c3458-9539-42f9-be05-17483dc87dfb CLINVAR:972749 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 708c152f-2753-4cb4-8ce5-63db9dd70e82 CLINVAR:972749 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3609136-3873-4317-9fd0-35f973f8a690 CLINVAR:418252 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8f9563b-1340-459f-97a3-60d73ed6364d CLINVAR:418252 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67914715-30bd-489a-90c0-711573f44e98 CA2573051032 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 594d6e0b-fb48-4a33-b7e5-0202da29e0b5 CA2573051032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f468a779-dcf3-41b8-9d92-37bfa1daab4f CLINVAR:134506 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76f72510-e4dd-400b-845c-660aaa9af141 CLINVAR:134506 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 805d1bbf-91fe-4120-a07d-a251eb8c4d15 CA386952675 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b057ac8-020b-4c00-99be-db43a113bcf7 CA386952675 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ebbfc8d-806a-42c7-ab9d-e745d42e0f5c CA386952705 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c6d234b-1a13-4657-a0a0-3ba882c4a804 CA386952705 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8037fb14-ad9b-4404-8214-f71d46980951 CA386952722 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7db0905-34c6-4bce-84b4-108b7afc73df CA386952722 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08aec66a-852f-4fc0-b97b-7fb173b445c3 CA386952724 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a89f368d-73b9-4b12-ac8d-8f4aa0495b49 CA386952724 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93839298-0000-400e-ac81-7bc6eeff5df2 CA386952811 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f617dddc-72fd-43a2-b6aa-5b8c013d7e9f CA386952811 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17055dc9-9ea5-4557-84e8-86f2a717b522 CA244520729 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 824e78a9-b7fd-4b03-905b-44d998819d89 CA244520729 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfc8588b-9306-4ae9-85d3-736892fd8206 CA386953008 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8369427c-cfbb-4161-a144-524affbac792 CA386953008 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50e056d3-e46f-4371-85ca-19add23a0551 CLINVAR:36798 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a02306c5-3f5d-44fd-9aa4-5aeda56b3969 CLINVAR:36798 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a3d2d84-c39e-4b80-8446-d3f531395849 CA386953128 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed189679-e968-422a-b777-5f59c8bf6a6c CA386953128 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab4029fb-0bb0-4dfa-bf03-03ed21707823 CLINVAR:882461 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fbf455b-7d30-49cc-b4a4-faf90649b71e CLINVAR:882461 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e095b584-1cdb-4ff0-9622-a5e2e2bec1f1 CA386953149 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4487b203-d67a-480d-83a5-352547ce1431 CA386953149 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 075dad76-4a17-4f29-b59e-b63efcd58dc4 CLINVAR:14938 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cb45429-403c-4896-a4ce-bb0bef3b684f CLINVAR:14938 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf58c7d-b779-4a00-853d-993cc6133f80 CA2573051034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37271e92-2ae1-429f-a217-40d0552122b4 CA2573051034 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0e1fb3d-a98a-4abc-8a3d-5dd3817cee19 CLINVAR:36809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f427a0a6-ebdc-47d5-927c-8ba025812caf CLINVAR:36809 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6de783b-cb58-4d02-8c07-9934a9f11975 CA2573051035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e64adec-218e-47d3-8ccc-e2286850fa26 CA2573051035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f412df57-e8bd-44d4-9acb-5abe75af7fcc CA2573051036 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d90283c-e79d-4a62-8a44-e0e8d4d6f715 CA2573051036 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed9a5b91-d7cd-43bf-8c92-08fd8b72402e CA386953604 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e36f7a9-70bd-4125-8c02-c74ecccef271 CA386953604 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff563982-b8a7-40c3-9d98-a7215252f7e0 CA2573051037 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be320da6-2a11-4560-b5b0-927ec42784a6 CA2573051037 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d448006-5bac-4ed1-bc0a-d717d0924ea5 CA6831684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01291d04-7c2b-442c-9bd3-d532c09d49b6 CA6831684 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a05564f2-cf8e-4644-8ffa-99ce33ead117 CA2573051038 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b714202-bfc0-4c54-914c-9954f6122f01 CA2573051038 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98c43781-29c5-465c-93b5-ec68ffd15c1e CA244520882 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53f31304-0429-4af2-b3a9-ef20938c076e CA244520882 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d30bee-3203-4f5a-b959-63a2e3839246 CA386953772 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f403ded-8f78-4829-887a-5bb28ef89ec5 CA386953772 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07c94822-780f-4bfe-a9f9-ace848feb155 CLINVAR:251581 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2aec6d84-25c5-486f-b8e4-aabccc87a8bf CLINVAR:251581 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e50bd41f-dd3c-4f5d-a9f6-b800db03cdcf CLINVAR:3692 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ddfd714-1e04-4f41-bea3-e5b9ab730383 CLINVAR:3692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 162e572a-4b7f-45ac-aa52-b7e5af95bfc7 CLINVAR:440612 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 099aad05-7c0a-4645-bb4c-b466f4f2acc6 CLINVAR:440612 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd918e4b-119f-4b18-9d6d-8a3267ccdfec CLINVAR:226336 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b87e8544-49bf-46e6-9960-59d5fe0e50da CLINVAR:226336 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a62844-862f-48fa-bb63-e755733a7ecb CLINVAR:251532 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a1021e6-061d-48ef-8d2a-64aa6309985a CLINVAR:251532 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24fe339e-762e-4f5f-a534-ce8ee1c95193 CLINVAR:251531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 666f5c55-3c7c-42ff-a962-3e404e655431 CLINVAR:251531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7ec6c9c-06f5-4259-9426-1b4b0d44e16e CLINVAR:251782 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 342a5c84-785e-4c0e-a41c-dc7367c8cc41 CLINVAR:251782 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e39e435d-31e6-41c9-ab40-1ec9015624c2 CLINVAR:251784 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88071b43-30f5-4106-8f41-259aba61ee17 CLINVAR:251784 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 499159ef-96aa-48bb-a2ee-60d4bd1072a8 CLINVAR:189296 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fcbc7d85-966f-4562-8d29-e0087fa84109 CLINVAR:189296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 319754ac-e94a-498f-8412-ef3c93f2db62 CLINVAR:200920 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72cecd7a-5b30-483c-bf44-9f149c7f11bc CLINVAR:200920 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4071a552-8a82-4fc1-9071-f8dd227c87b3 CLINVAR:251505 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 505281a6-4984-471b-ab91-98567856472b CLINVAR:251505 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62358bc5-addd-43e4-b045-6b57b9c8ce96 CLINVAR:441198 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6deca350-1abf-4732-af45-24569db1a682 CLINVAR:441198 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 830df864-3bc2-41fa-a98c-46df7eff4490 CLINVAR:441197 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d6b1ff6-fbc7-4e26-8f7a-48cef2890731 CLINVAR:441197 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05e8f5da-766b-4a9a-9ac2-b360f70d8d6f CLINVAR:998053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2ced4ac-939a-4022-99a3-eefdd79154c8 CLINVAR:998053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7565ec1-76f9-4ba2-97cc-e817f64f7a28 CLINVAR:200923 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08e8218f-abde-4e8e-bd71-e9797d3cf6c4 CLINVAR:200923 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c35a10d5-cd77-4761-872b-63f0e37b7e0f CLINVAR:251102 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e4290b2d-d188-4e85-9d75-c74902a68374 CLINVAR:251102 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a1f7fff-dcd6-4c85-a735-79b525a5a8a6 CLINVAR:541714 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7b015fdd-c555-4452-b5e5-0ab37c44e105 CLINVAR:541714 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c99d630d-5db9-423a-a80a-d0d93c3e9d17 CLINVAR:932830 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20ed1f2b-3c37-4ea4-88d8-b15c82700ca4 CLINVAR:932830 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 224cd4ea-0bfd-45d3-bdbf-3c381bd15ba5 CLINVAR:552361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a3ff9de-4f0b-4f38-b500-8e8b8c1d19d3 CLINVAR:552361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac05da28-e6da-41be-a7d1-1c7a0f85d4fd CLINVAR:541718 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d4991ab-b543-423a-8e7c-b1f59abf60db CLINVAR:541718 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3483b4f-6051-4c63-840b-6abc7bc3c755 CLINVAR:857574 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6ca5b04-b4ca-4ca3-84a9-7680ea9b69a6 CLINVAR:857574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf9ae97f-e87b-40ad-a829-dbbe551af622 CLINVAR:550796 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 581fb7e9-f672-4e55-8561-f7d20af22b88 CLINVAR:550796 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a470cd99-dd59-49ed-a32f-c3097293f813 CLINVAR:203588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a21937da-6a4e-49b0-a023-454c239c8e1a CLINVAR:203588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 546cf66e-e9d7-4f26-ab48-5ed94d93728f CLINVAR:943198 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 01072a61-6814-4a0e-a701-338758ffaf57 CLINVAR:943198 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b92b5f56-9e93-49f3-8373-9f9f7c2a47a9 CLINVAR:932733 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f4607cc3-c804-41cd-94c5-8465f71b03f3 CLINVAR:932733 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e278926-2d52-4734-b927-89475bd7855e CLINVAR:569888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8967b0d-d3f4-41e7-a4a9-1208bc2b04d4 CLINVAR:569888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6ef6c82-7356-418a-97c4-f357f535ce04 CLINVAR:556238 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b1aed2b-9c6b-4718-8d91-1a09e8a53a32 CLINVAR:556238 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 595a803b-e099-4f18-a42d-057603b21c1e CLINVAR:932734 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11067840-f648-44a3-992e-c6e7a87b9072 CLINVAR:932734 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fcc9556-0645-47e9-a0f2-e3d7ad089cba CLINVAR:189116 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5c80996-e3f2-48c1-93fd-a881471ff871 CLINVAR:189116 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4908a8cc-326e-4860-9e1d-42d005738cbe CLINVAR:474896 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f6affc9-f99d-42e9-8449-b367a2e5fdc5 CLINVAR:474896 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e73ad65-6b3a-4d6b-9d49-6ac448b20c6c CLINVAR:203594 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1942b142-1e78-48f3-92b5-62f2152cce2c CLINVAR:203594 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97a38d38-75b3-42f0-b921-2bc28c146c3b CLINVAR:1624 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 13bbf36f-2ad9-4161-8eaf-4e00d0a58200 CLINVAR:1624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a87c699-ceaa-4b08-8f3c-c37884634f9b CLINVAR:932735 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3914d9c7-06cd-4099-b630-8ae9adc4060c CLINVAR:932735 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4550b18c-c35d-4829-bdc9-43f803634132 CLINVAR:1074732 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1671edb9-2f9c-46ff-bb4b-93df97677cbf CLINVAR:1074732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e36845d-35ac-4034-a3fc-469561f94402 CLINVAR:951288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d9f75d9c-04db-45b5-85e4-be99759fc498 CLINVAR:951288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6e785d-ee14-4396-9d3b-2b45787c8540 CA386954172 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c43d5392-94cf-4665-a207-17aa15a01d22 CA386954172 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ae0e4e6-3a75-404d-b8fc-b8f67fd55960 CLINVAR:36816 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b2f581c-70f8-4e2b-8530-2333175f9c60 CLINVAR:36816 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d76b2d8-49e4-4005-96e4-d242077c4eba CA2573051039 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b190c5cf-915a-469e-a59b-fd3355165e0b CA2573051039 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9c61e27-05fb-4f8f-a3ef-3443842764d7 CLINVAR:36817 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6fae3e14-4473-4f87-a59f-d66b5e605167 CLINVAR:36817 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c10cd403-3366-44c3-9db5-b76ed820f905 CA386954942 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61ae8e87-d88a-498f-bd1f-d43ee6854a70 CA386954942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdd2e7e9-feda-47b1-a63a-ad0a9f8f8d4c CLINVAR:447486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bfd8afda-8cdc-4598-8028-97a97e29cee6 CLINVAR:447486 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 011c8cb0-f299-455c-8cfe-51924f35ae28 CA913203553 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26c90c45-6054-48c5-b17e-6616b63f8842 CA913203553 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a67be36-db03-49d9-987a-5a63c6d082e5 CLINVAR:36819 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0801eab6-0ee4-4a1a-8c8a-bee32ffb7bac CLINVAR:36819 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 240fdb74-c426-4bb5-b494-2b70ee5f1e25 CLINVAR:307458 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67d112f5-b6bc-46d1-b3cf-c49444d78849 CLINVAR:307458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8572a06f-939c-49b1-9bb6-bc1e7ab5b468 CA386953852 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfc98fdf-b8c4-47ea-a9cf-358e7c9bc6c6 CA386953852 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7d36a57-b1a6-457c-8abd-0f0ed09a7528 CA386953857 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f6ac043-63c8-4a6c-ba6f-9f147c916a9d CA386953857 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffd27b03-f5b0-4a38-8bf4-e617caacb68f CLINVAR:14942 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 296b24a7-23c2-4169-8ace-7ac2ab99d2d9 CLINVAR:14942 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59b58729-be28-469d-8aaf-dd0a6852b596 CA386959120 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38914ab5-b683-4573-93e3-d92ff81dfc1a CA386959120 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69af473a-8d53-43a5-8d30-ed5fad6e50c3 CLINVAR:36820 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 943818a2-8b98-48b7-83aa-3996be8851e1 CLINVAR:36820 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da8c1b39-e590-4b4d-a670-ef1f6464fb17 CA386959975 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 603c71d9-5264-4fb2-aa88-bf1b264b724c CA386959975 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efb29f39-70de-4746-975f-8e0a4d8887b1 CLINVAR:447489 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a553729-8fd8-4c9c-a179-100550ac7f4c CLINVAR:447489 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9377b63-06d0-4b6e-b658-de69a3ee01e3 CLINVAR:36821 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63add664-9f18-427f-834b-5ba23c1c9039 CLINVAR:36821 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a14efe17-99f1-4297-9fd7-88cbf453150a CA386960405 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4bf3ac15-12c2-47f4-9f66-6c9f15cafc0a CA386960405 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83d4ad3a-60c4-4c1a-ae06-8a645a5509ca CLINVAR:447490 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87608b94-de09-41ac-b02e-fbebcddc5cc8 CLINVAR:447490 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2974f7c5-d78b-412e-baff-badce7e408d4 CLINVAR:1317072 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a545ce1a-688a-4b12-8055-d05ce46ea50e CLINVAR:1317072 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee1a167c-5133-4472-8731-212186ef9ba8 CLINVAR:377965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a8f1070-f8c5-4ee8-8c37-c8ff971c03ae CLINVAR:377965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7baf21b-fcc2-4cbe-acb4-8a9c549a0931 CLINVAR:372380 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b76d873b-6946-4ca9-ae36-1d96a3bd6100 CLINVAR:372380 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d566677c-f491-4564-b486-a996a35515fb CLINVAR:449035 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e3133b3-1718-4457-9ce5-041490443c19 CLINVAR:449035 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fd610da-27de-4347-8511-a3c7d65ab6b3 CLINVAR:36824 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 832d5782-4385-4dca-80bc-4bae27b5d124 CLINVAR:36824 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9849f065-d74b-42ff-9dbd-53c3986e2ac9 CLINVAR:381588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fdd31def-1df2-480a-86b1-e63aad2500f6 CLINVAR:381588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49a8efd-558a-44b5-93c7-229356e56352 CA386964227 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4bd4ec8-9752-48f9-be1e-f96e93e381d0 CA386964227 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce852bac-6f55-4a9a-8795-973d377706c1 CLINVAR:1338381 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ad4227f-a401-4bc6-8c54-a3309b968283 CLINVAR:1338381 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6108497c-7e58-4de6-a884-965175f0c74a CLINVAR:129235 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00387ae9-52d4-4832-a37b-85335e42ff51 CLINVAR:129235 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 831fc19e-f64c-41b0-8ae3-76796adb40d6 CLINVAR:393434 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e24e202e-6a73-4d15-9bd9-2857b7c5ff3f CLINVAR:393434 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a17ac399-a8e7-413c-8aee-130238c68468 CLINVAR:36825 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6bed0bb1-b425-43cf-9d43-394fb96afefc CLINVAR:36825 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65162051-cb9d-4499-a0d9-b772e085399d CLINVAR:435428 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73d2946c-26d7-4db6-8776-c57a39e3aa50 CLINVAR:435428 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ca30c0-d94b-42af-84b7-08b75688f857 CLINVAR:379904 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f8de78d-2ebc-4f91-8034-5c661f9e5237 CLINVAR:379904 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8232e794-2acf-4c4f-9b3e-d4bdd71e18eb CA386965177 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9dede037-7e97-4771-aaef-21d16bcce44d CA386965177 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d6ae901-547e-43fa-ae6b-fb4d43d358f4 CLINVAR:393456 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd57880f-6bab-43be-a561-f2ab0f6b679a CLINVAR:393456 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39688ba6-bc20-433b-aaed-13e8dc19f3a3 CA913203569 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4f5e124-4305-4bde-baa8-02a5653b90c2 CA913203569 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41efd003-53fa-474e-b841-68773a066ec5 CLINVAR:447497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99a8f38b-1bd4-48dd-add6-7e76ac4dbf6a CLINVAR:447497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5e7344a-bbaf-45f3-888b-61370a770ae5 CA386965461 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6694a021-cdf7-4cdf-93e4-d58707228e53 CA386965461 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 540a6961-b4bc-4370-98ad-06f28f472278 CA915940299 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f43cee3-1298-4cc3-b93c-3895a818f5c4 CA915940299 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d292199e-eb11-42ca-8b7c-76f1f488c3c5 CLINVAR:452526 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 277dd5d3-a9f1-4efa-a5a5-a47e1d60d091 CLINVAR:452526 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e99a0d8-45d2-497c-bf7a-2e224ab49eae CLINVAR:36828 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ad4e8a1-7cf3-40cb-b419-acdd54210224 CLINVAR:36828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f62967-3edb-4fed-9b29-869ad696909a CA386965838 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca837d9d-22e9-4453-9ef7-7e9450a1b435 CA386965838 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3d13b68-cf59-4d1a-8e8f-229c084dbe97 CLINVAR:838654 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75f1577e-7b85-439d-9e5b-df2bbec54c86 CLINVAR:838654 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22c5823d-eb7c-4c13-8559-daee9b22c9b1 CLINVAR:203575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd2b4d2d-6410-4388-8249-64dad34af75e CLINVAR:203575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 279d8454-804c-4f18-8163-1b4362247b47 CA2573051029 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c916ec14-97bb-402d-89c0-0c1cd29a4d00 CA386965841 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddbd8aa9-b6cb-4952-9104-33889717b3a3 CA386965841 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace6aee5-8b21-4a7f-8021-4b48d21a3c0f CA915940438 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c50f135-1b16-4937-9ded-712e232e6cbb CA915940438 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c8c7ce-0e9a-4bd7-8e9d-308334e8f112 CA386965901 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 444b9023-a626-4be1-934d-e65dd74f8066 CA386965901 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de096434-fe90-4263-9b96-1d646e4703a9 CLINVAR:447498 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 807c60fd-80fe-400d-9509-ef47af4ceef5 CLINVAR:447498 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a7fa746-a448-4ab1-9043-3afb5785ea54 CA386965984 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c787ac57-0d01-491f-a41d-199edca96fdd CA386965984 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b73b6a5f-c699-4b76-b70f-2b67a764ea27 CLINVAR:265436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ee53ff5-a52d-4ba1-9db1-46ce57b91d52 CLINVAR:265436 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d64fdb5e-ea4e-470f-8e9d-df361620c4c8 CLINVAR:562367 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2216258-90bb-4b6d-95de-112b2d338ad8 CLINVAR:562367 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c42c53a-87dd-4d1b-ad6a-410407a79709 CLINVAR:379138 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b74aebd3-cffa-408c-97ee-b8d1b9f021e7 CLINVAR:379138 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97c49697-a6e5-4167-a9f1-8a00d8e629da CA386966158 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c628cc3d-7620-4f42-b9f5-2f73094ec37e CA386966158 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0faf8cbb-4ba7-49e4-ae4c-a18466ea4058 CLINVAR:36830 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ba5259ea-5c40-41d9-844a-09294bead942 CLINVAR:36830 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6eb0b95-9653-4e97-a852-de41f5d3c29c CLINVAR:1338730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7166e73-8cbb-4c88-b088-734fa47d0924 CLINVAR:1338730 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ceb7d9-bf38-44db-a57d-dfbe8dfafc80 CLINVAR:265193 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d9c3877-cd50-4c74-ae7b-8d06d6c341a4 CLINVAR:265193 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0207201f-80c1-4431-91ec-82a52dba8ce9 CLINVAR:447504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8844f1d6-3872-4edf-afec-aa47bda08682 CLINVAR:447504 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dabd16d-4b64-4192-a11a-f87c1013a54d CA916079828 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34161b83-3ced-49d2-9330-b47b5f5a3089 CA916079828 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64f1f1a3-6350-4c61-ae8c-ee9fecadf28b CLINVAR:1315612 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f310d680-76d4-4fd6-8e01-cf5de54f11c4 CLINVAR:1315612 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 383b8889-0ffe-4ec8-8bd0-317e44236f69 CA6831851 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4130958-1ba2-4deb-9a9d-6ce275cb3523 CA6831851 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b935fbe-d6ae-4832-9d9d-1f59c2f131fd CLINVAR:972753 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8e01a89-0dcf-47e5-b524-a9e7d77fcd65 CLINVAR:972753 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c77a9a1a-62e3-4181-be2e-a805464d92f5 CLINVAR:14927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0373bcaf-b27f-4627-96d1-e4ebeed90f82 CLINVAR:14927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4049bc03-6537-4e05-a994-9862a2f96b0f CLINVAR:447503 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3aa14a08-5bf8-46cf-9a07-c7bf15c2c415 CLINVAR:447503 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e86d368c-31ef-4099-a94a-30ed6291c2f7 CA386966358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 012ed852-6925-4f70-b741-92d593241854 CA386966358 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87eaa297-8991-4fd0-b048-2b8ce00f61c5 CLINVAR:449403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54f32355-224b-42d9-8806-5ce25b831751 CLINVAR:449403 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afef21df-21f3-453b-87fd-4102d2fe4c7b CLINVAR:447501 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e31ae24c-c07b-440e-a451-c237f12c6d92 CLINVAR:447501 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 832dc048-45da-4521-a09b-6f391bd70f9b CLINVAR:447494 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1d16d29-96f0-4365-af28-d797b6bd36c9 CLINVAR:447494 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ded1ef88-a59c-4276-83f4-bf7c3382b327 CA6831859 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b4118e9-f926-4f75-936b-6c04e7560e3f CA6831859 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0cd5a67-6caf-4d48-8caf-d92344dd206f CA916084342 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc302701-60ba-43e3-88af-ece39b8c2696 CA916084342 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c4a3f02-100c-4f43-a892-4806c53dfc37 CLINVAR:102631 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53d265ec-ddfb-4760-9ded-d77ea1a07cae CLINVAR:102631 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c784d980-c24e-4032-ab11-802194cfdec9 CLINVAR:102599 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f040a3e4-8d0b-47cc-bcae-e60265ffb6be CLINVAR:102599 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03ada28f-1acf-431b-83e9-ace1bbe5b344 CLINVAR:102863 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d0db1ff-b3f6-4e3f-8d3b-ab07ef29c9fd CLINVAR:102863 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f5bd4e4-ed78-45c3-bba4-ce5b002df010 CLINVAR:102836 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de6e4f24-0199-42ac-a8dd-cba7372e58fe CLINVAR:102836 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93eb125f-7601-46e2-8793-2bb2d588d8e5 CA16020858 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a46a449-a76e-472b-80bf-1001aa4fd3c3 CA16020858 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93695a8e-ad9c-478e-a05a-d172ada5ce22 CLINVAR:102835 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c22e6e81-1a04-4561-acb9-8b88af21ab33 CLINVAR:102835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbee3613-8b00-46ac-875d-cf286bfd9c8b CLINVAR:102651 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a11291c2-baa4-4ccb-9624-6c3787c15264 CLINVAR:102651 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c199906-92a1-40af-a02e-ec4f4ed68462 CLINVAR:624 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72082824-a534-4af4-9ede-2a46f1583ac4 CLINVAR:624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3132c721-eefd-483f-b7b8-66e14665bc1b CA16020834 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d03c08f2-4680-44f3-bfca-0a27165457a5 CA16020834 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f6f27de-e158-4df8-a927-eefeb49f2874 CA16020917 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abaa71d0-34b9-45d5-bcc0-a95bbf4b2167 CA16020917 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ae3ae62-64e9-4a5a-ac05-3b1200b0ae7d CLINVAR:430837 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 697a3043-12bf-4ab1-9252-3e29691db027 CLINVAR:430837 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e1f3ab3-5af1-4d14-892b-dbafcc1d376b CA386971548 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0df8fa9-51a2-458c-821c-628f4f831d76 CA386971548 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d9b94ff-bce1-4127-8630-da87ca18f857 CLINVAR:134513 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e33d6de6-e4ec-4f1f-91ad-ac9136d26412 CLINVAR:134513 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38411617-1a8a-4c6d-88dc-706ed2b96287 CLINVAR:447484 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da2d1cc1-1e86-40a6-a147-930daee990ca CLINVAR:447484 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32cfa70e-bd12-45b5-a186-2f1b38863058 CA386941334 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d724207f-6e3d-41ba-a328-0b99ca1d6e8e CA386941334 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82181dd5-6a93-4a21-84f3-6e6321ec8d72 CA386941084 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d06083e-4854-4ebe-b844-33c3f73687f9 CA386941084 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc357e6-9532-4ddb-9764-71b8b919464e CA386941079 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9220bf0-de38-48e8-ae13-cd3f9de9e180 CA386941079 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76615634-d9a5-4756-a032-ff765a4915d0 CA244513452 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c4d14d4-0eb2-40f6-83eb-7fdab74e99d3 CA244513452 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80b9957-db5f-46eb-837e-e3eb17bd18cf CA2573051041 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0e7fd8c7-e970-436b-a367-d2a065ba7000 CA2573051041 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6488e49a-26f1-4832-90b3-9ff78ba54106 CA386952842 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f46dc65d-6ca7-49a9-bf0f-e50673d3b276 CA386952842 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e2a2cb6-01a3-4026-9e73-7161f9edaaef CA386958679 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f9be3d8-69a2-445f-ac99-1649ccaf3fe6 CA386958679 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63bb8565-e346-4236-9a7c-937dfb385f59 CA386958695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 235cb16d-9996-49bc-bf97-d5b9f41daa8e CA386958695 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a689c7-d402-4aaf-9b2b-e92553d1303b CLINVAR:447500 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1c87fe9c-a85f-4a03-9d10-b789d2f58284 CLINVAR:447500 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3140a6f-3207-4d51-b22e-7c7e06a603e8 CLINVAR:14945 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c094e438-c938-4a85-b522-1d647554e169 CLINVAR:14945 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a91dd40-fc2f-49cb-b65a-72e00315d1c7 CA386970422 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3699ff5c-38bc-4911-959b-8e3baed96321 CA386970422 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6857fbd8-8e07-4fc6-b653-1ff2544c88fe CLINVAR:252220 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84fdc730-f188-47a0-8783-0f18a739ab57 CLINVAR:252220 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcd73068-0ef1-488a-a5eb-7f5af1e7e958 CLINVAR:252221 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8844da5c-e1f9-402f-8615-f197de90b598 CLINVAR:252221 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b6bbb8d-2c89-4858-8e5f-4e72fdb0858a CLINVAR:36823 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3a80b57d-da28-4cb5-a1cb-f5edeaa8abdf CLINVAR:36823 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0cf9551-dc16-4fa5-b1cd-77296be0b497 CLINVAR:134509 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e4b64e3-93b4-4201-8ec2-d84092e01e92 CLINVAR:134509 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa3fc41c-3499-4a51-a46d-6a7019f9feba CLINVAR:918071 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2e9d384-3288-494f-87c0-8417930b8c19 CLINVAR:918071 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c284f8ff-8888-4ca4-a1c1-6f0c5f94b518 CLINVAR:843407 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c90c1117-735b-4d78-b620-69976d0646c3 CLINVAR:843407 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 832bf5af-9027-40b1-bf43-c569044c895e CLINVAR:251435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37b157de-af0d-41c3-8041-d6204e7fda29 CLINVAR:251435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dbc295c-85be-4b67-b1ac-6919242067a7 CLINVAR:226351 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3aca3c6-01c9-4096-ba6f-3d2291be4b9c CLINVAR:226351 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9484db62-4ded-4b20-8be6-60c2b075a054 CLINVAR:226352 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f82b9e2a-e280-4eb4-80ec-8e2606e8ef88 CLINVAR:226352 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 367a2b07-7d3e-452b-a19a-735794fcf683 CLINVAR:250966 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4fb8621d-e5ed-4230-96ab-81b350821c0f CLINVAR:250966 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d57c4f5-e1f7-4369-b479-2d530c181d62 CLINVAR:250967 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 753ed5cc-334c-4e8c-a42c-3d8654ae6068 CLINVAR:250967 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9203416a-061c-41d1-a4c1-379294f5502a CLINVAR:441174 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30cc22dc-1a00-4ccc-801c-56ea3a59aa65 CLINVAR:441174 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8c3e61b-8c8c-4db2-a18d-3814e23babe6 CLINVAR:440536 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0afc661-6a35-44e2-91fb-42121eea47d0 CLINVAR:440536 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e6b5ed7-2a9e-445b-814e-d582cbc4aea5 CLINVAR:250969 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3871ba1-80f9-4b79-b837-a1bfbe7a2b38 CLINVAR:250969 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 723dff7c-f8b7-4612-bb92-2f011f13443d CA2573051050 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 442e98bd-f4a9-49c0-807b-eccd831e21d2 CA2573051050 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68abad1c-16f1-45ff-a133-c466cc471e94 CLINVAR:14935 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03a4f22a-2848-447d-be4e-19825f8e458b CLINVAR:14935 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e91c85b8-3e8e-48eb-bbbc-5bd6c0023705 CLINVAR:920048 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3b5121f-c41c-4025-81ae-16b3620c5a09 CLINVAR:920048 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8709c98-a97d-4297-9eb1-3b062da5fdaf CLINVAR:251580 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 033e67aa-a0b5-4fb8-a7c7-9328c04d7afd CLINVAR:251580 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e194b046-9424-4c07-b1b6-213d6d741fc7 CLINVAR:440663 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01a94745-8061-426a-9491-e102d90f36ef CLINVAR:440663 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f93668e5-2edd-48fe-bc7e-c97fa92b104d CLINVAR:252084 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 51c8eb0c-4074-4a7a-acd4-8a4bc6a49fa3 CLINVAR:252084 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a51a433-1e60-4c4b-bbbe-1057db0a1f8a CLINVAR:252085 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7898f39-eee3-4902-a51d-c6e514e6d1a7 CLINVAR:252085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9786331f-cceb-46cd-aa6c-5bd50cc0bd69 CLINVAR:250957 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 779d95e8-6eaf-482b-a9cb-0a0854ee5039 CLINVAR:251508 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2b49424-65b4-4344-afce-5d3761b19798 CLINVAR:251508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec45ff6a-2f8d-48a0-8d24-3025cda7db83 CLINVAR:251507 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b4eb7bc-6bb8-4e29-a310-b5cdfccefcea CLINVAR:251507 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b253d99e-6867-4106-9d53-c87f5c695f27 CLINVAR:36459 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8122182a-bbaf-4356-af4e-c4eef82419d5 CLINVAR:36459 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65286374-7ae3-4e28-aa02-c975a66a1c6e CLINVAR:252224 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c48686c5-7540-4fcd-9cde-8734bec5b1b9 CLINVAR:252224 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dddef41c-052a-407c-bcbd-f757586c403e CLINVAR:250933 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f936c9ce-5be3-4ce1-b6fe-d02c282ca759 CLINVAR:250933 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e41cb54e-2953-4cd3-8fe6-ebc06f5f90a9 CLINVAR:251611 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 926e45e1-bd29-4058-a799-5302d0112147 CLINVAR:251611 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b16cf17e-80fe-4e55-9e3f-4c88079118fd CLINVAR:226342 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2550824-382d-404e-900b-5ce8e205a581 CLINVAR:226342 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa28718a-9a07-4c67-8a5e-0dbb0f3bfccb CLINVAR:440627 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f380b73e-4993-49ed-9a7f-b090cb638ddc CLINVAR:440627 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dea2047-e83a-4cdd-a6ad-c1b9f85089b1 CLINVAR:251693 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b23dcedd-b617-4d3a-ab84-db3a19228acb CLINVAR:251693 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 548089ea-5d5e-4f5b-b909-d17a99640cce CA397722480 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae20446e-e3c8-42d8-a396-6f8bb86ee6bb CA397722480 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018b3441-d6bb-495e-8d71-192f1886e0fd CLINVAR:648624 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ef42a3d-f6bd-4d16-bffe-ecd5bd1d6617 CLINVAR:648624 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c58843d2-ccca-4ae4-8372-503862ced3fe CLINVAR:181279 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71348a6a-e67a-4c9f-896c-3ae1f4d38d7d CLINVAR:181279 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d16f120-4946-4b10-ad97-38391c84bb9e CLINVAR:181390 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ce7fe19-4d97-4e42-b24f-4748dc4530d9 CLINVAR:181390 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92828a2a-ef42-4b1a-9879-d4fb769db7fc CLINVAR:43095 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4bb0c5a5-6ce7-4b8f-90d1-de3dc3b0f6ac CLINVAR:43095 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbf9d340-96fb-43e4-a8dc-0f61605e7aad CLINVAR:953854 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f39880a-4de9-460b-a190-ba4b86380e1f CLINVAR:953854 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6daadba-36e8-422a-b9c0-cfb089bf1eab CLINVAR:932736 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27bf3095-883f-45f3-8d89-aff4b4cd22e1 CLINVAR:932736 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa5a2d1-e339-40fe-9ae1-d9c0aa7c5562 CLINVAR:250970 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25583516-95ab-4e79-9b99-d797ba2b749c CLINVAR:250970 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e607d490-6296-4890-ac95-575024cc8465 CLINVAR:251309 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd8f959a-ab76-4684-acad-c07d0caec5ff CLINVAR:251309 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6abe75cc-be21-47e0-97e4-8449f274fa7e CLINVAR:3691 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3743d030-a141-4895-b096-e048b942bf23 CLINVAR:3691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0058521-ea94-4891-a823-ecba485c7039 CLINVAR:226333 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3babc6f0-3207-4d44-ac1a-965fe6b4c755 CLINVAR:226333 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2473d58-d9a0-47b2-8725-da70294691d6 CLINVAR:251421 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc9cb304-8046-44b7-b77d-96a52a0bd5ee CLINVAR:251421 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea8e2e50-4d22-46da-9934-0f4de39fed32 CLINVAR:440613 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c9eeaa2-2eea-43f5-824f-765495e2ab26 CLINVAR:440613 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce8f3407-e0b6-45ec-b351-776383a5d396 CA386972260 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ddd130f-b3ac-4702-9e58-56d1d91eeb37 CA386972260 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fadca877-3144-4497-b555-7ce4d71d918c CLINVAR:256597 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d74f41ff-0f3f-49f6-98f2-6e41499340bc CLINVAR:256597 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c59d3a-34cb-45c3-9442-56750490fb78 CLINVAR:36829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b89c3b6-3afe-4cf8-9a94-b27e5109c79e CLINVAR:36829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f6c98c3-ed7c-429c-85b5-e92732a7b3fd CLINVAR:1338571 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a60b906-d7cc-46cf-963e-edb544b2273d CLINVAR:1338571 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 448b3ae1-1c74-4231-92c4-486ab5db0d16 CLINVAR:36832 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e24efd5e-e8f6-4f2e-82f2-aa5b516f4f61 CLINVAR:36832 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a635abc2-f878-4fbd-917a-bd93303fc356 CLINVAR:382774 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29991236-de04-45c7-a83e-336b9c47b21a CLINVAR:382774 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78ebfa68-409b-4a5a-a3ef-dde242c3ff10 CA386970411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 18850312-9cda-476c-8152-5ecea15b9cfb CA386970411 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f4a2ea3-1db4-41ff-9263-036b242104e7 CLINVAR:36803 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d31174f-20eb-49da-bbaa-f31e05234d2d CLINVAR:36803 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfb5f9c4-0d7e-4a37-92fb-4e736f838cf9 CLINVAR:256598 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8527d11e-29a0-45f3-9211-8ec4ed84a6e3 CLINVAR:256598 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab5a89c-4247-45b1-8af6-1526f0d884af CA2573051033 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2cb2cee-d087-48c7-bffe-a3ab6548f03a CA2573051033 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de862026-0551-45db-ab96-e0a1f1da88cd CLINVAR:307462 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b5b8e58-0030-4444-817f-c3875303d66c CLINVAR:307462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fbbb29c-af5e-4d09-9ae1-e364a389a350 CLINVAR:36812 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ce9b49d-599a-458e-b052-c62219ddfc4f CLINVAR:36812 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4254d29-e367-44e1-acf9-466bdc47ccbf CA386940950 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2dddd7c-86de-422d-bae7-cb161bbb1f03 CA386940950 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 174cacd4-26bd-42b1-98ad-1d3b5897afb3 CA2573051044 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 724b3eaf-6c5d-471c-9758-505531ac6473 CA2573051044 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bf6153f-9c26-4499-8c46-e121da5a3935 CLINVAR:438709 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd426ee5-3f2e-4e31-b43d-4efb30cd4597 CLINVAR:438709 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6fddb90-e980-444e-8bb4-3eef0ddce046 CA2573051043 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74ed3763-50f4-42b6-bee7-9fe6494068eb CA2573051043 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b76b8c67-8824-4804-a327-ea47c8d19871 CLINVAR:134507 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7799303b-91ea-4e36-b067-49da5e220c71 CLINVAR:134507 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36af1c2e-d25f-4c55-9560-fdf57938d256 CA6832194 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7442201c-24ef-4683-b111-ab89b7aaed14 CA6832194 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b05016e-2510-47bf-9864-bf420fb7f959 CA2573051045 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2da6cd64-c817-4c3d-8ee9-23aeb539c509 CA2573051045 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23e26676-dea7-4b13-bb9f-59a42c97ef61 CA2573051046 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 64f9247d-bc6b-416a-b879-7cc37b0ac598 CA2573051046 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1190f87-c3a7-4c9d-9703-7be5fa05e7a6 CLINVAR:307474 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89304911-79f1-49f3-929f-b8b3f8ad31b3 CLINVAR:307474 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d408154-7ead-4997-b568-8d237557b8eb CLINVAR:376917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e877c332-ce0e-4474-9570-c9698531b752 CLINVAR:376917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b68c4f5-3c15-462c-bfc7-b92f62bb4ce1 CLINVAR:371068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ebf24e25-4d4c-40ab-9dc0-54df5461bc31 CLINVAR:371068 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ae6d1c-a0c8-4095-a850-0f9d7f3cc571 CLINVAR:373614 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c3e5810c-aa1d-448a-ace6-a456a8a20a0e CLINVAR:373614 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 744e288f-c3c6-42e2-b3d1-60e8d9e1d53b CLINVAR:929167 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c902655-ecc2-462d-a1c3-0d4809b572da CLINVAR:929167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42820a9c-a068-421c-8870-6eb443d0e79b CLINVAR:4025 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 937944da-4ea5-4a2d-9355-2633a8aa8016 CLINVAR:4025 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81913fdc-c3d1-4bb5-bf56-48316614cf0a CA401366477 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93bde18f-42f7-4998-b978-817bc029961b CA401366477 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 316b024d-269e-4dc5-9bbc-cebe7f0bf010 CLINVAR:180144 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d929ae2-31fa-4765-b31e-9d5cc1d165a9 CLINVAR:180144 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a343f15d-2954-4f72-bf65-f238561cdab5 CLINVAR:430167 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6317a216-0448-4ab6-aa79-c169e75965d4 CLINVAR:430167 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0399f9fa-38eb-4297-9e7a-99a361385bd1 CLINVAR:307467 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b30afd1-227e-4148-92ca-4c3fad944bbc CLINVAR:307467 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2385ac65-a241-4fd6-93c0-0ae20e854f0a CLINVAR:48256 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3fa9ff79-9898-48d6-8fde-b81a7c476c6e CLINVAR:6137 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34a30c06-bbec-4044-b603-713df3c47ec9 CLINVAR:6137 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f44243-9175-4829-95a4-e17292e19249 CLINVAR:21831 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ecf8d1ba-5a1b-4026-ac72-42e345456040 CLINVAR:21831 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e5c6294-9dc8-45d2-ae45-821b2b4489f4 CLINVAR:48253 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ba93aa4-4d81-4266-b172-3423853630ae CLINVAR:897955 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43df2f98-f469-40ab-91e2-4489f7b7edc2 CLINVAR:897955 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2c9795d-5cd4-431c-8a28-0c7331ee608b CLINVAR:48235 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4896efbf-51d6-4a30-bc22-fb266caeb47d CLINVAR:48235 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 508f598b-6ce0-4a72-8a85-6ab36cdbc305 CLINVAR:500061 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3abce02-5062-40d1-83f3-12ae639edac2 CLINVAR:500061 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c64e553-8a29-410e-805b-91009db810c4 CLINVAR:666995 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75497f0c-5b1b-429d-93bc-5242ffa1ced2 CLINVAR:666995 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f72d67fc-a034-47b6-bd02-37d73b0ad045 CLINVAR:505185 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 273d5d02-a15c-4b03-82bc-c6730e9649c5 CLINVAR:505185 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc43394-5db3-474d-860c-3c1a4a4fe9d5 CLINVAR:930033 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63dab29a-9194-48da-8457-2b9927af7892 CLINVAR:930033 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6f2790b-d540-4da2-b734-3cd9fa3c7416 CLINVAR:504630 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc96307c-5807-4cca-9d31-378f6b44aaeb CLINVAR:504630 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98d4cf17-a983-4884-a4a5-d2e7b59660f3 CLINVAR:632271 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34b03409-a3f0-49f8-98ad-6445390c2eca CLINVAR:632271 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9eede9-dca1-4749-8c24-3e6d35c5d37a CLINVAR:623347 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c589dab-19eb-4c46-a0e4-0e710101eda0 CLINVAR:623347 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5afa8141-9d5f-421f-922b-9b6e65a86f1b CLINVAR:449526 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e77b9a6d-1cc8-448f-a46b-afc5e0414cc3 CLINVAR:449526 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b493b1d-a300-4061-8332-b7d1a25ed642 CLINVAR:6950 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 075ba335-443a-4705-8c2c-3225ab5290d2 CLINVAR:6950 biolink:is_sequence_variant_of HGNC:7594 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c3d8954-202a-4f54-8297-8c6897ee9e99 CA401368920 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 16237d4a-6ca1-4e78-a9f2-d5f28a99a6d9 CA401368920 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c75c0f29-cfa8-41ac-b91c-089cf750ae70 CA658795287 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37aaafe9-430c-4410-9369-8c1c843846cb CA658795287 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8203557-62f4-484e-b12c-e40b70c9d6c6 CLINVAR:370277 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3484328c-9bee-4dbf-aad3-9e279ae3f8a9 CLINVAR:370277 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6adad64-db6c-4196-ad36-095108c0bc66 CA1244303 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8544f657-ab58-4f17-bc63-5bc1140da45c CA1244303 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68b97b61-f637-4fc9-be07-0de05ce564a2 CA343726016 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92060f83-fdfe-4448-9e0e-5552acc4ad9c CA343726016 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12a6fec0-235f-47af-8ddd-27bb252b5ac1 CLINVAR:7952 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38e13487-1935-4c16-8a3c-a29fc0380da7 CLINVAR:7952 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1d51e12-47c9-4349-8fa2-075e18f606cd CA1139532728 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07db4d82-cef9-4cfa-bc9e-22bc7e976c95 CA1139532728 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d14bc95-ab6c-4e94-baed-04b7b973c7c3 CA1244053 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc6d0a73-0cd5-49e5-9013-9ce8dca797c5 CA1244053 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f82951f0-4591-41cf-b6ca-887b799b20be CA1244052 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 026063a6-4ac5-4493-9769-ef42edab2069 CA1244052 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9c90873-9c73-450d-854d-b4971f19c43e CLINVAR:7954 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 265d3278-ee14-4b4a-991c-cbaa79fa4d52 CLINVAR:7954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 010d60e8-0448-4cd4-9084-7133f80c344c CA343724072 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95f0f573-cc62-46db-947c-852969801f06 CA343724072 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fd8c927-977c-49b5-a8c1-01c517569b59 CA1244050 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a640bcbb-8c6a-43b6-af37-ab9ae5d0bb4b CA1244050 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1927bb82-e4b5-4072-9eda-65ca7cb2b405 CLINVAR:7956 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90d23504-dc83-437e-b57b-c22e07092988 CLINVAR:7956 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3321bfa4-1e9e-4420-829f-4360d950b44e CA1244034 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7d87b8c-b13f-4d8a-9f66-1782d76b8699 CA1244034 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2e751e2-f16b-43c9-a4f6-a3cf51643147 CLINVAR:30205 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59da847f-d8c7-46d1-b62d-c4f2fe202bf1 CLINVAR:30205 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96896176-bc28-4589-93be-2baca9a93f95 CLINVAR:7950 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 974c82d8-6598-4ef7-9b80-ff5457bf3081 CLINVAR:7950 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b820557-4970-47cc-b993-1bd31a0723fc CLINVAR:7951 biolink:causes MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fe1f449b-7d77-4ce6-b356-ef6116fef381 CLINVAR:7951 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b13c4c-2c5f-4a2a-b492-03014ad73b53 CA343723150 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6ae2e84-d263-42be-8031-b089d0df4c78 CA343723150 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dcc1eb8-3697-406d-b976-047b23e7aa07 CA1244022 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77ad5dfc-093e-4a22-945c-a5caeec53147 CA1244022 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70a4fc59-93b4-4ab8-8a1c-34603c6e9107 CA16616748 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6feb0005-754e-4f8e-8376-b05c27dcafca CA16616748 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4819c05e-d9a7-4196-bbd8-7cdcc81c8971 CA343723135 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d218985-0a35-4376-b537-17e332310553 CA343723135 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c13e37f-af6f-494a-9ce6-68c4c794c898 CA343723138 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd982840-e98f-4d84-b175-8c7a006d3f98 CA343723138 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 708435b2-c04a-499f-80c9-acf67f3bd90d CA343722912 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aece7dc9-c578-4b10-8c4d-dac9216d34da CA343722912 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 814433a1-0428-44b3-8af1-59d26984ac1c CA343722844 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2ce2084-8422-4c21-a700-09f8ad82ec80 CA343722844 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 363fbe9e-f964-44c7-b7df-975c192ecc8d CA343722837 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7870b73-f6e1-4a7d-ac6d-da9b4c46f463 CA343722837 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6807d741-34e4-440d-b4dc-02d7a88c77cf CA343722794 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b657ab1f-d0f5-46c8-ad96-ca70c908c1ca CA343722794 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2966defa-47b6-4572-9b54-b408ea73beb1 CLINVAR:917405 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c17afeaf-b099-4d0b-899d-163b6bb1f17c CLINVAR:917405 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1276c591-03a3-48ff-b67d-f21c8594e80f CLINVAR:871739 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 412adfad-dd6f-4f1c-bb35-a46835cdca1c CLINVAR:871739 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d2d31e9-2745-43c7-8e31-d644e799d2c2 CLINVAR:1693221 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2cf361f-6b1c-49f2-8cab-24a0f262317b CLINVAR:1693221 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8178d55-e563-4807-bb64-36e80b3b396d CLINVAR:420102 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa584484-441f-4076-8f44-2746c4bcdbae CLINVAR:420102 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbd3a227-d3d2-4039-8f3d-661c5b84592e CLINVAR:419722 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c99669d-e27b-4e42-905f-e0d56a71b0d4 CLINVAR:419722 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54bbeedd-c4f5-45ca-a4d6-f219f92af763 CA913184733 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 489e366a-76fd-461a-85e9-fd57ee9a6696 CA913184733 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aadcda49-083c-4bf0-8bd5-d4454f9b3c66 CLINVAR:1072906 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d7040c9-e441-42f7-af68-51b42dc7b6b5 CLINVAR:1072906 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f124071a-3951-499a-8359-ee2838987eec CLINVAR:371305 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5958932-6dae-42e7-9ba5-3322a9369b27 CLINVAR:371305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6cc464-b0e3-4a2d-adab-ab9b876e2842 CLINVAR:403712 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bf14849-45cf-4d33-8fb3-46992bff4868 CLINVAR:403712 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80047f2e-7115-444c-a35e-0e0e4e414850 CA658795264 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 841b07e9-d3c4-416d-891a-1b3d0b9cdd0f CA658795264 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dc960a3-a934-47ca-a287-53b644ee3730 CLINVAR:934787 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d0fec13-2519-4121-bdda-5799b2c29215 CLINVAR:934787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525cc598-1868-40a0-a670-76936ade467a CLINVAR:102819 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0715b682-5311-4e07-9ff9-0ac6af64b4e2 CLINVAR:102819 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b155fb2-ff6b-4772-ac3d-2ed189f66591 CLINVAR:280984 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41e97ec7-aef6-4dd5-8780-71964dc6450c CLINVAR:280984 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a330502-16c3-42ee-ac95-9b85065ee4c8 CA386954977 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07bcb93b-3042-4dde-9044-e264ce112842 CA386954977 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c047e18-7845-461b-ac90-389c9f30ace9 CLINVAR:1338520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 002af01e-7669-484d-b7d4-ca6671379c1e CLINVAR:1338520 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5074f2-a8bb-4320-bb7c-04004d3fab5f CA386954965 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f52864a9-b05c-4da2-a3f5-dd64ac1bb290 CA386954965 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32cd7ba3-7682-455f-b432-beb56c565fdc CLINVAR:447491 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cca7a09-b50a-4938-b7b6-6cb1abf4e611 CLINVAR:447491 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28fbdbc8-3b64-4cfd-910e-e05caec11659 CLINVAR:447496 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f14897e-8a07-4d40-83f8-f0a87e1bb7f5 CLINVAR:447496 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a681e274-1ccc-4198-a63a-540224ca7a8e CLINVAR:102529 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02e58dd9-12e4-4f56-936d-58c00eb24441 CLINVAR:102529 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e8a1d37-1bd7-4599-a710-03006e9158b0 CA16020900 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a593a5c-d661-40ef-b2c3-fd1fd5a6c425 CA16020900 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 626c49c0-0389-4ab2-b583-790a2da3756b CLINVAR:102906 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5359f48b-5cfc-4366-88e7-089969dccba9 CLINVAR:102906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f02fe91-8391-4a63-9021-d4bf1a996ef8 CLINVAR:102465 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2c646bb-4fc7-4312-8393-e3aba133ba19 CLINVAR:102465 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64f876f0-b119-4720-bfd1-39abb40ede5a CLINVAR:102470 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b763a45-98aa-4a17-a4ae-1be8ff8343da CLINVAR:102470 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ecebbaf-caac-4ba9-bc41-1805761d86be CA915940312 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac3fc6d7-9076-4d01-86af-f3ed3fa803d5 CA915940312 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce5fd4a4-89d3-462b-a202-3c625c4c3785 CA16020935 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d61f2657-175f-457c-a67b-c65f4ec239f8 CA16020935 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 806e41cf-dd69-46d1-a2c5-970698e9a61b CA399803733 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8345e677-d9c7-41ce-b485-c86ba6d5bb1e CA399803733 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dabb0615-48be-43c9-9cb5-85ea3fb24a2d CA399792054 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93c73b04-0e00-4caf-b0b9-fd2122cda563 CA399792054 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e54105c9-ecfa-4efc-bb2c-cd29cd28ea3f CA16020923 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29f4ad90-a11d-40f0-acc6-513181f9b890 CA16020923 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c69963-35e5-4a3c-aeab-71e87064fc85 CLINVAR:102762 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bdfd5ea0-a640-446a-bbbd-f26d55c92127 CLINVAR:102762 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2dc6b67-1ccd-40d6-aa64-145c5b2edc9b CA399806022 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96c9b833-8960-403a-995b-d3c15bae0600 CA399806022 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efaf027c-34f7-4707-bb1f-aa5c5f360945 CA16020898 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8abe8ba2-1805-4b2d-92bb-1025d874ce13 CA16020898 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de83894b-23e5-49f9-b177-be00d530d75c CA915940332 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f119a402-e996-4016-b64b-b9d80146282a CA915940332 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 079f9fe7-6bab-4be6-a986-75cb69364481 CA399794330 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 387d008d-8dd3-48e5-858e-dd7d0f33fceb CA399794330 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 906c226e-f935-4d8d-9281-0cab2de3115a CA400029054 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 59138c0a-ef8b-445a-ab5b-ece6dfb75c2a CA400029054 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 806c1940-7b16-4c9e-923c-53582c84bec8 CA915940323 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7d47a24-f498-4b39-a797-5fb93a3a39a6 CA915940323 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8361d81e-8178-42e8-96bc-d8aa541cd9b0 CA915940530 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 687c26cf-8fe7-4c92-997d-3ad7c5800335 CA915940530 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29af1386-1f86-4509-bdb7-574886a3867d CA915940333 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f0d17e1-93cf-4931-aef9-9782aba98eaa CA915940333 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9188ca48-4e11-4532-b230-72c4e67c4330 CA915940701 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 481c4771-73c6-42ad-9842-6f020c11eae9 CA915940701 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cde0f99-eec3-456c-96b9-88c32b75ed3a CA399795907 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d8647633-2685-4430-990f-085baa92ce5d CA399795907 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d295fe57-799c-4a54-8e3d-05f1caa8edeb CLINVAR:1691459 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e05d6f1a-2c06-4fea-85e8-33370d80f079 CLINVAR:1691459 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd3ba4c9-3c47-4670-b5c7-7c24e7cc56e5 CA626684863 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a5c7894-bf70-407e-9850-0cc3200a3dcc CA626684863 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df616449-1260-4551-8410-278f8b2bad8e CA400032596 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c73dc54d-985f-4524-af14-0a930c2f3c99 CA400032596 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58207d9c-37c8-46ca-9b51-a1e451b853e0 CA915940324 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b92bc7a8-d30c-4cc5-a42c-d93cb25aee5e CA915940324 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc8767a5-c69b-4b46-8081-b774f5c02cdb CA399804780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 234023ae-5487-4ab6-b5a5-f4092cc4526e CA399804780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54e694b0-8b96-4d1b-b2d5-695fd21ef4dd CA915940690 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf4d2bfd-7e99-437e-8422-6b07591e1065 CA915940690 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a045f81b-4e70-4c3e-a5e6-9c4dd1449e81 CLINVAR:1691465 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac818ae0-10db-4b71-bafa-99a70d64d647 CLINVAR:1691465 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41a17aff-dc27-45ee-88b8-e3ee95afdfec CA915940689 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 248e5410-8350-4eea-ab8d-20653bd0347f CA915940689 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3de8b1b-9ea6-4dfe-a42f-f549dc52ad95 CA915940686 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c094108-c598-48b7-82fb-21ee9b315fff CA915940686 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c86678f3-3942-448e-9d8e-cf1663b25a96 CA915940685 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98ed404f-81e7-4cb2-ba0b-4c93767ba219 CA915940685 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19d3a829-7560-48f0-9760-0122b0bf12ce CA400032481 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34a9c1d9-f987-4263-b441-92d760340a4e CA400032481 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e99beeb-821a-4846-9c67-e3209217650d CA500261104 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fa9590d-7184-4065-8e06-e095a0a88a35 CA500261104 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 548a98ae-f9ab-4387-9651-f521b2cb1214 CLINVAR:627290 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 180907f3-a170-4f9d-8482-4559043a1006 CLINVAR:627290 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b9c551c-5486-48b2-a236-31388f5ae819 CA400028389 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fa64b31-66cc-418a-b95d-17b341ba0e5f CA400028389 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf140c79-9920-4299-926d-b73b50f12c1c CLINVAR:812734 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02b0e82e-d850-4ee2-bcf9-72fe9e99c7b3 CLINVAR:812734 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8658a0f-4bc1-4f27-adcd-e575322fdce6 CA915940687 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 34b48d37-3551-494b-9737-06c2633f60b9 CA915940687 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b781e38e-c99a-426a-933e-a4dffbcaa0c1 CA400034691 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74fa9608-39f3-4d85-acee-bb65eb7c78a6 CA400034691 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecf217fa-ad8b-4d11-b687-4d41d6505c76 CLINVAR:850885 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0fe0109-79d8-407b-ad62-e2811252208f CLINVAR:850885 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7c04fb0-d5bb-46ee-8bcd-cd6f8034ea0b CA400030171 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f72e4703-79c3-41f0-8dd1-0bef8291a98d CA400030171 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 608c5caf-8e87-45a7-bba4-68d7d591819c CA399799004 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e827b09-8b87-4a5b-a9d1-a385e201aaa2 CA399799004 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4010f049-ed5f-4f26-bf2f-39e71f962676 CA500624244 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6bd9b50-8bb2-4693-875e-9f271023d13a CA500624244 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6f607a9-7f13-43d4-92c8-a42166945ef6 CLINVAR:626980 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e84040d8-fb6f-4976-b2c6-77d54d97cc5e CLINVAR:626980 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4e21290-3817-4cf7-a086-612d86b431c3 CA915940605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4346b54d-71dd-4eaa-9e55-4a2b38cd591e CA915940605 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ef3ee3c-88ad-4ed1-ad77-34fa1b47a325 CLINVAR:1691480 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00eaf6b0-4d49-442d-a82f-34c3f327e749 CLINVAR:1691480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9512847e-f260-48d7-bc50-e31e2b096fca CLINVAR:430539 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 131d67f5-d011-456d-9122-4236aad1ecfb CLINVAR:430539 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2808dec-4072-4bdc-ac07-7749ffa89bc0 CA8603528 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da61b4a1-f226-4770-aa5c-2aee73b8eceb CA8603528 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39f02829-8fd8-4a4e-a557-541304e7cea1 CA626224378 biolink:associated_with_increased_likelihood_of MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 852c8b13-ab4c-4e55-b188-179dcfa214b6 CA626224378 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 899c40e0-f29a-4cf0-95df-09bd40831732 CA915940808 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8edff31-d82e-4c89-b9c7-a84ff4a544bb CA915940808 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e6d71b9-8c27-45b0-8947-b80dfa0fd96e CLINVAR:1691482 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 603de8a8-4569-43fd-a397-ce68f1832386 CLINVAR:1691482 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 077829e0-5a8d-431b-9c0c-c17321418491 CA400021843 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe619902-e16a-4138-85d3-d50663e5c165 CA400021843 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77cf5555-4c48-41f5-9af6-0356debd2df5 CLINVAR:102737 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3dd5a123-3061-4519-9691-aaec2a4bb92e CLINVAR:102737 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a71a26f4-0e5f-405b-bbb4-1f00a096ba7f CA2573051040 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 587ee1de-2f4a-4944-bd68-2b88490edd5f CA2573051040 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 468eebd0-3499-4f1a-84cd-1e8b0ce3b93d CA2573130154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6eed0b70-b041-4213-836b-8723813a7ea2 CA2573130154 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bd1293c-6cf9-47da-9aae-13db4bc590f1 CLINVAR:1013621 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da3cab4f-1c49-4fc2-838c-870406e966a6 CLINVAR:1013621 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b83b755-865b-44ca-9a21-36e399976079 CLINVAR:988835 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05186274-87ba-42bb-9a84-7e39c24f133f CLINVAR:988835 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11fae065-8049-4ce4-b7bf-5822b8183ca3 CLINVAR:897095 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e84a903-bbbe-4f46-8219-ffb256a10719 CLINVAR:897095 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30188e05-1edf-4c68-8308-36a15267eadd CLINVAR:812739 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97e14681-1076-4a1d-bd3c-147540bdf5c3 CLINVAR:812739 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24e53984-a316-42ef-8158-8beb390aa037 CA386959501 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9d52270-64d9-41a1-8095-10c268c05e3e CA386959501 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5bb09e6-4464-4c64-b00a-d6e1471df3a4 CA386959510 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93fd15b8-4397-40f4-80a5-f537357cef62 CA386959510 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14bc454d-b8d9-41b0-8c9f-eeeb9324872f CA2573051300 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05363fc4-2cf1-4bff-a20b-56f4b39a5067 CA2573051300 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e3f9394-c914-4bac-a457-fe3586035cfc CLINVAR:143485 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66a37cbd-fb68-4aa3-a1a4-ae538e96a6cd CLINVAR:143485 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c05c5db2-2fc9-4087-b8bc-b6720227dc78 CLINVAR:143345 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5eeb9524-d58e-45d4-b10e-40b2bf487044 CLINVAR:143345 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42893205-8c3a-429a-8b71-ac2cf8c15391 CLINVAR:11835 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08d50de6-1a93-4ffd-875a-25ff4120ab68 CLINVAR:11835 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4284af6-88a1-441d-81ee-d798a7e10ee5 CLINVAR:11809 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea7e15a9-14ec-4958-93b0-4138068c8f6f CLINVAR:11809 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e16afdb0-ecff-4424-aecd-06a3f8091655 CLINVAR:156657 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20af782b-73da-4286-8da6-0b136c0857eb CLINVAR:156657 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1762b410-70f4-4ee6-88eb-84894773458e CA915940209 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0c8b681-dd2a-469b-8c4b-7d593cd66ba8 CA915940209 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 771aa675-61a5-4636-a1d0-098ba27110ac CLINVAR:102537 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2aac7e3-cf21-412a-858c-42ed5e06f7b8 CLINVAR:102537 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0282ae6-42c0-49ca-b135-172a1493bf5c CA16020907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2400e9d-a900-4036-aa15-8bbbe95576a1 CA16020907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b79913d3-3815-4cf8-ab6e-e0cbff8f4f90 CLINVAR:102920 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd771478-574d-4a1c-8478-08e0c8210b94 CLINVAR:102920 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b2e749-2c14-4b7c-afcc-10c59eacef40 CA16020796 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb91fb30-3dbb-4880-9e52-289b87a19e89 CA16020796 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cbd906a-0390-4f89-9de7-0a088839d3ec CA16020744 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d4197da-dbcb-4d25-a3b2-c447815bea65 CA16020744 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 424c5166-b81c-4c91-bb89-774e966ea4a7 CLINVAR:371373 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb86d227-a135-4288-91ea-685dd0d14812 CLINVAR:371373 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c60a7ac5-0eb5-4e5e-a8c0-275f2697537c CA16021007 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4657505-59c7-4dda-967e-3073ffc404a7 CA16021007 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b777a094-0674-46bc-9f67-6bd882dab0ac CLINVAR:102615 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf401e6d-9093-42aa-8eaf-740c95fe37e6 CLINVAR:102615 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33143cb0-8187-4ede-9b90-48be9d8b2231 CLINVAR:102622 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c10e28cc-aa7b-4c88-826d-09f4f829b4e5 CLINVAR:102622 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96299573-c4f0-42b8-b738-c12aee1fa4d7 CA386965978 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71d28636-4c0f-45a6-ae1b-4ee71ef265f5 CA386965978 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 193e7293-e361-4d1e-af42-14464e393859 CA386971639 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen daadbb9d-21d1-4e34-bd43-7cd6d04000dc CA386971639 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e4ca5c3-0d31-469a-bcb1-08b984c883db CLINVAR:189082 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a15d3cce-272b-4638-8bdd-d4706ca010f2 CLINVAR:189082 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 354ce47e-c0eb-464a-adb2-6c0523beed05 CA401363493 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 514cf1dd-da69-492f-a5ea-25b52da1e5b8 CA401363493 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d26a36-b4fe-46b1-86c3-443fc3722304 CLINVAR:556117 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2ef5ae5-b535-45c3-a3fe-fca71d879b71 CLINVAR:556117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d830c8d-7257-4f60-a771-c88b496b6eb0 CA401325305 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 259a9bb3-da0e-4440-95ee-7bee318d2de2 CA401325305 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7212932-0032-46e0-9f68-ae7cdb4e7b70 CLINVAR:988811 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ea11ba4-78f0-4d36-98eb-db468fcd7875 CLINVAR:988811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 113b6e09-9ffd-437e-9dae-d86da396634e CA10014591 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d22e0aab-02b2-4f47-9913-e26de06e1afb CA10014591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6049061-09a6-46af-905d-c6b6496b2426 CLINVAR:9647 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab75f43b-07c8-447b-a61b-9ef1f73523be CLINVAR:9647 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 001d156e-9725-4aa3-bfbe-e7fbb1a8ffd6 CLINVAR:9644 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21d98560-97b5-409e-b2cf-83fabf6ddba0 CLINVAR:9644 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc372a5c-5215-4251-8fa8-7ea785cd72e7 CLINVAR:425040 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab3fa8f2-10b4-4dfc-be6b-3239067d38c2 CLINVAR:425040 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d07d375-f423-41ce-bb20-17fdd0725c83 CLINVAR:207248 biolink:causes MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4fa56b26-9928-42c8-a635-2edf25b251c6 CLINVAR:207248 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7f9255c-8845-493d-bee5-35d17db4e110 CLINVAR:236302 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6504a81-b785-45f1-be59-8dbf53863ba7 CLINVAR:236302 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b97347a7-20d6-47b6-b7e6-cd3f9290a06a CLINVAR:167092 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22f8b261-2b79-4a3c-8e6c-6105dd240ff1 CLINVAR:167092 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20cceac7-fd2d-4cc9-b9fe-7332f1788c44 CLINVAR:160079 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa37da09-acb5-406b-89c3-16f10e612efa CLINVAR:160079 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0611b70a-8965-4f51-b5e6-99b70e2f1867 CLINVAR:9646 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a46118cd-da9b-4153-a695-d19bbe02b3d1 CLINVAR:65921 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34d3ec50-8b50-447d-abbd-dfb771d8fd9d CLINVAR:65921 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38e77b93-6123-4410-a9c0-8f0044171df0 CA414817724 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ede2d67b-b039-41ba-a7c2-b655a81ae79c CLINVAR:217366 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddb33435-48cc-4e73-8150-f16e4f7fed88 CLINVAR:217366 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9777e166-71de-4e05-81b2-82365470cecc CLINVAR:217365 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cfab525-272a-4500-b9bc-2ea5d3a00bdc CLINVAR:217365 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16d6fe1e-f10a-4049-b05f-41869dd23b92 CLINVAR:160214 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e09a75ad-75d7-442e-864f-24078be79af2 CLINVAR:160214 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b4a2b33-4ea0-44a0-b079-8c5b95cfbc5f CLINVAR:156677 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6284da2-10da-4707-874c-f235ad985549 CLINVAR:156677 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9716139a-d2d9-44f4-8fa5-247c874f9479 CLINVAR:156120 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5aba50ff-bb89-4faf-8249-f3d6fda1826d CLINVAR:156120 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae9767c7-8987-4cbc-88f3-8e4904bea392 CA414817725 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51b56243-3404-4abd-b527-f474d8959d07 CLINVAR:143738 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 777ba46e-c704-4ed2-ae44-ea414890734d CLINVAR:143738 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bfc2f9f-3c29-4d54-9851-2afcdb994aa4 CLINVAR:156124 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c24c082-526f-44c6-90a5-d831bdb3af2d CLINVAR:156124 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0711ae10-079e-48c0-8819-65c43960485a CLINVAR:191364 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f407a9be-f851-415d-ab3e-4b00c0dd381b CLINVAR:191364 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe040d14-65fc-4ab5-9b48-4aa7f2761845 CLINVAR:1066009 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9230b241-c563-499f-94d9-8a1d600700be CLINVAR:1066009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 505660eb-6acd-4687-b090-08b904882e12 CLINVAR:155881 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3e7b125-bcbe-44e5-9d91-4c9133cd11e0 CLINVAR:155881 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb02eb62-e242-41e2-b269-d5b4bde6ff88 CLINVAR:9698 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9c5a15f-2ead-4a3a-9b9a-e8b08cfa1739 CLINVAR:9698 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c36c520-a5ed-45d2-a58b-c691403a35f1 CLINVAR:9691 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49f77d9b-2b55-4fac-8aff-743097d7e1df CLINVAR:9691 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56aca501-d3c8-47c9-aef9-ab0c81e920c9 CLINVAR:65515 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 37411f2b-220a-466f-b0a2-dd897056763f CLINVAR:65515 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dae1773b-f0dd-449b-afd8-4d7c94c3ce6f CLINVAR:9732 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fadaad58-9b87-4bb7-a3ab-d575e771e663 CLINVAR:9732 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aa8bc66-b3a4-40d2-9be6-bb016ab2bcc2 CLINVAR:155889 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5840953-27cc-4bc9-afd2-b866f8b332ef CLINVAR:155889 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dbb7b99-08a4-41fc-994a-26eacc2b3f92 CLINVAR:9693 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d26d0b90-59ad-4f78-ba5e-79dee740b293 CLINVAR:9693 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d3fa22c-f0bf-4539-9141-a46e16449e97 CLINVAR:9711 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6163d380-89f2-4071-9199-46441c910969 CLINVAR:9711 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8390f187-ead2-4b93-a033-3eafd6021daf CLINVAR:9685 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89284e85-1a75-42b1-b489-df5c4690df3e CLINVAR:9685 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 770bf8d9-7d38-4b61-b195-c4029d489ea2 CLINVAR:9692 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58575779-bc05-4a73-a5b9-0d0abfa038d7 CLINVAR:9692 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 759cd192-f90b-4c93-ad97-aff75f3df9e4 CLINVAR:9548 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f64a42a2-fdb5-4a5c-9c16-4159662ea698 CLINVAR:9548 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 318e5c60-3500-42d6-aef2-87eb7b69c864 CLINVAR:9576 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5462af05-4117-4508-9c58-05378fcf667c CLINVAR:9576 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9500ec18-7f6e-4c22-a627-ac7108e44927 CLINVAR:9731 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47a4784e-a641-4dca-82f0-e3e7dd368d8c CLINVAR:9731 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c95a59b8-8fd6-46d8-8f42-93569b2f79ed CLINVAR:9703 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f4d91803-ddfa-4620-89e1-7eda6a2697bc CLINVAR:9703 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbce06b6-0c80-4889-8e60-6b975da6c18e CLINVAR:690280 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f38210b-2b35-4ae4-a5dd-82ae670d3a69 CLINVAR:690280 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 428ccaab-9997-478e-ae77-905a3bd65db4 CLINVAR:9708 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd78e533-d30a-4999-83e1-029a6977d63d CLINVAR:9708 biolink:is_sequence_variant_of HGNC:7459 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57d262d4-6c07-4b8d-82d0-dd2fc15b61c1 CLINVAR:9640 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32fb342e-a045-4664-ae99-753f27d1f1da CLINVAR:988857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 316f79dc-99a1-4451-a22f-e05915a77572 CLINVAR:988857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66f70bcd-30c5-40dd-91f5-3c1764a3aeb1 CLINVAR:226334 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 890c3010-d2b9-44d3-b513-3d72c33f945d CLINVAR:226334 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ecea4ce-e0fb-4339-a90f-ba608377b003 CLINVAR:251456 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1a64f1e-98cd-49dd-b5e3-9ad4ac294c22 CLINVAR:251456 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caaef8e7-9eba-4435-b6c2-65d879952228 CLINVAR:251457 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63a5e039-530c-429c-aa51-983c4c9f43c4 CLINVAR:251457 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a510a6ef-d272-4dc5-ac6b-0e255d8389e1 CLINVAR:251458 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b63a7d3-5768-4469-80f1-b1d6685a03e0 CLINVAR:251458 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc76b3cb-2d8e-4820-822e-6244b8e8178d CLINVAR:251488 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen adcf71c4-24d8-4c5c-9af3-2ed9e0b1ed39 CLINVAR:251488 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2914ce4-d796-48cc-96ec-5ba34a01725d CLINVAR:183101 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b8e0678-62ab-4259-9a84-50c36fe5ef70 CLINVAR:183101 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdb041ca-cbef-4ac1-a549-e78438490889 CLINVAR:251903 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8922e4af-a2d0-4b8d-89c0-b9ad8917e815 CLINVAR:251903 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e84f585e-6421-4e21-8a06-5be59f7faa05 CLINVAR:496019 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 13c5e4bb-9e93-4b87-aea8-9e7dcd62f545 CLINVAR:496019 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d131b3d6-35a3-4b01-9f4e-b4ecc1366297 CLINVAR:251904 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e15e504-766d-49d1-86f4-7391d7a969c2 CLINVAR:251904 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06a0df99-57a1-4000-9dab-0b91b828473a CLINVAR:431531 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcdd614a-301f-41f3-8dc8-860ebae66297 CLINVAR:431531 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66a711f1-3b33-40d2-9efa-ef113a8ee367 CLINVAR:3686 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6a1418e-4d38-4820-9e6e-892f32fdc0b2 CLINVAR:3686 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ffc6b78-5dee-4609-b8f8-103d9fa61ac3 CLINVAR:226329 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc236665-184f-4085-bcae-ca192b48ada8 CLINVAR:226329 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fddb904-09ce-462d-9060-a2fe580e4e26 CLINVAR:251356 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e5afcd8-6b10-47c1-8ed0-608021a96935 CLINVAR:251356 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0526ee0-b779-4d1b-9491-805093eec579 CLINVAR:183092 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b866b047-fcc5-43db-997a-0a4faf39a905 CLINVAR:183092 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b43ed62-6421-4229-b4fe-1dacf33c84f9 CLINVAR:161286 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49ad640f-2b03-4bab-9541-e152a0686941 CLINVAR:161286 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6891a8ca-0d57-4130-a97f-e4a1e9d04f2f CLINVAR:586794 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b4c9b7e3-f2c6-49f3-8cd2-2f864c37852a CLINVAR:586794 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fc33bd3-50e2-4cd3-be45-a8ecb0d32c7f CA386959579 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bbd8a564-2bbe-4bd7-ba02-74d8e0c588f8 CA386959579 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac035551-e62f-49be-8f5a-c55ddfae9404 CA2497030023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6aa19516-0d2a-4880-8f6e-d123e6993cc0 CA2497030023 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d020f5da-734e-4354-9fea-7120b4bdeeea CLINVAR:1315998 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3783ecd-610a-4b00-b004-114c5634c1e4 CLINVAR:1315998 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13a57ab3-0624-4ff1-9c4b-c6c6aebb9f5a CA2573051042 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bfc8f9d4-47fd-4d21-8268-f7a563023f2f CA2573051042 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 729d5d67-f9d3-4ac2-a706-6baeb4e7e471 CLINVAR:14931 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e002434-2f77-4b34-9327-cc052112cc14 CLINVAR:14931 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec2c8d92-47c4-48da-a4e4-da7aa3e68cb4 CLINVAR:627101 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32a3a656-f8bd-4e56-8a7e-dd43713f7ce8 CLINVAR:627101 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c471e4f-3526-4281-922f-7328ceb56f87 CLINVAR:258182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a51728d-8a2c-414e-9023-912fb4cd64bf CLINVAR:258182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a58a591-1a0d-4c90-b358-1730dfc55736 CLINVAR:1130934 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d584d5e-d31e-4467-a24c-f24409aad474 CLINVAR:1130934 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f245fa5-81e1-4e7c-8715-2ded4403857a CLINVAR:561235 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5cd9518-3248-4a5a-8960-6e7b29e49496 CLINVAR:561235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b9efd99-ab44-496c-90f4-c1eb09e6987e CLINVAR:1194557 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb198007-14d6-4e64-86d4-959525e03cf9 CLINVAR:1194557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98c7eb4-dfea-4da0-a454-a0d836f84b38 CLINVAR:755769 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0fef14ef-484b-4ea7-9b66-9f64fb24f44c CLINVAR:755769 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f045d3a-b202-4e83-8133-a955f20a2610 CLINVAR:579565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bce452a-1349-431f-8721-d5554f91e6fc CLINVAR:579565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6af1edfb-4b4b-40df-8735-6fe38fdb4ead CLINVAR:1488717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3de27e4-632c-4b5d-bd61-66c2e1019666 CLINVAR:1488717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 652c74e0-c974-4699-a5d0-1d9907e59c16 CLINVAR:1073521 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d97273f3-75d8-4687-8be8-21a1f21d57ba CLINVAR:1073521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b842b9-3e7a-4e7c-9372-7c0c46adcb4a CLINVAR:943551 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen db886c55-9f7e-4d3c-9913-e31435b34b17 CLINVAR:943551 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18f2eb84-10a4-40dd-8fec-d70aac12dc7e CLINVAR:561225 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a215b7ef-c661-4bfa-8593-2d3023cc4c6a CLINVAR:561225 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 815f4e75-1b13-470e-99cd-e2c8eacfc9e3 CLINVAR:1459069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a6da4ad-eaae-4515-a8e9-e27fb34fc867 CLINVAR:1459069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b54b083a-dbf2-41e2-acff-4b1c8b1226b2 CLINVAR:666187 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f10bf70-9974-449f-a82e-0d3b54f35d0a CLINVAR:666187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6922297b-18c0-4b40-becb-3c120551c366 CLINVAR:532666 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c0cbc05-f422-4d9e-a25b-0ba9f22902dc CLINVAR:532666 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f2c1acd-c101-4089-8598-7c34b0a55f0d CLINVAR:660838 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57d0dd98-3ca6-4757-8092-849c1c83e26f CLINVAR:660838 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 545d9d5a-47e0-4b1b-bf26-ca7287b91a6a CLINVAR:843935 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 142a0f43-3fc5-4e0b-9e7a-d509ce65c5d4 CLINVAR:843935 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11a8efc2-6279-4eed-ac16-d773f250349a CLINVAR:861043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04625dd5-0b4b-4aa1-9cb9-b41733550a5a CLINVAR:861043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d27d4009-a2cb-48d0-81ad-8699d7c74b01 CLINVAR:898729 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bacf31e7-f3e5-4e08-85ab-21cb4308b7ed CLINVAR:898729 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9205a5-fd6b-4052-a7cc-46fe2b9ad6f7 CLINVAR:747644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0990b3db-ed57-474c-b575-5afa492bb97f CLINVAR:747644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bb87431-a064-4f33-b97f-99d47f726273 CLINVAR:1069299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5cb33ec-396b-4b8c-92f2-a74055305ea7 CLINVAR:1069299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 187b57f6-fb79-4ece-a093-b438c0f2089b CLINVAR:1076589 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e76296be-b28a-41ae-802c-8f46b32f8358 CLINVAR:1076589 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92354925-fc9a-4ff5-b30f-ac7e7c921637 CLINVAR:1124345 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f76dd7e-864c-401c-ae5c-6c7faecd20a9 CLINVAR:1124345 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 067f7fc5-e68a-472f-80d2-e5be4f3677f6 CLINVAR:239058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32f0caf9-563c-4e0d-91ce-72aaebc38dcd CLINVAR:239058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce6c7df9-c8b1-4a8f-b5eb-63caadbfb848 CLINVAR:1099856 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28f4aeb7-7d89-4efc-9a2e-2ddd937a146f CLINVAR:1099856 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c30b326b-b413-4a6f-a346-ed52b4cae93d CLINVAR:1142684 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f456d2d-33b6-4f86-ab28-f741d04c25f5 CLINVAR:1142684 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecdfd59a-f808-4268-bca5-9ad042774417 CLINVAR:1088939 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed2edf22-ca10-430e-8904-32f0c88c4dd4 CLINVAR:1088939 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 675e8206-afe2-4fec-9dca-c2ce4e1475e7 CLINVAR:1144056 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae4eee28-3c32-4872-950a-651ff44b6abe CLINVAR:1144056 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06d3f4af-7ed4-4a6f-8753-800f453e1d03 CLINVAR:761366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c53ea731-3476-43c7-83c2-701d14d3f67e CLINVAR:761366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0097364f-9a7d-4c28-8a75-91956d96f26d CLINVAR:1165599 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52dbb2f8-37bc-4008-8ecd-d45b630cad97 CLINVAR:1165599 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da3d3add-44ac-4ab9-8c2f-2baac8b57a67 CLINVAR:812740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f9f7bab-07f0-49fc-b8c6-563f2255976b CLINVAR:812740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aae2956a-4912-497e-9c97-72a1dd8eac65 CLINVAR:532661 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83744921-4948-42d4-8ea3-20558c9b42ed CLINVAR:532661 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd984cb2-5b32-47e0-b625-ae1999897b3b CLINVAR:1013620 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2617f236-c41d-47dc-b1fa-c0c299a9b6f1 CLINVAR:1013620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 693171e6-f34f-4227-8565-f63d89921785 CLINVAR:580539 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1eeb07f4-0361-47bf-a3db-780ad51d67e3 CLINVAR:580539 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc0ede51-f791-4217-8e35-206c73be377c CLINVAR:941820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e9ba5b0-6f07-4020-8881-4ae5d4a2adda CLINVAR:941820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06f0509c-30e7-4210-83a9-9af6200dd647 CLINVAR:1000131 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb7014b7-9d15-41fb-bb75-b278b86014d4 CLINVAR:1000131 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 094df335-80d5-42f6-8d44-1461160c35a4 CLINVAR:532685 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2733819-fb93-46d4-95a1-245caf09841f CLINVAR:532685 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50490110-fee2-45fd-8f3d-2a505d9ce6f3 CLINVAR:464000 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bacbe402-1e3d-4a9b-a33a-9bb2e30ef0bc CLINVAR:464000 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fb9bd4f-7c45-4df0-ab10-a0b3eb68311e CLINVAR:1142095 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d8e8a94-10c2-4ef4-923f-2aa52e366c61 CLINVAR:1142095 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea2c209d-6ae1-4520-897a-a8e8a35cd750 CLINVAR:463976 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecf14d8f-ba06-4808-ad0f-1b1959cb50e6 CLINVAR:463976 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be509910-0b6b-4c69-96a2-9da1c6e9df01 CLINVAR:706138 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8dd36c74-1963-4f19-b43f-faea774715e7 CLINVAR:706138 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 479dcf19-8702-487d-83b7-4163a875822b CLINVAR:1012038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9188fca1-bcf4-4922-9bdf-0da009fa4213 CLINVAR:1012038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19a29a5a-d559-4c9a-b9de-d2183aecbd54 CLINVAR:1116571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae731cf3-318e-4b23-af14-5b61e19201e3 CLINVAR:1116571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0593a521-1af9-454c-954d-bc1dc30d6d99 CLINVAR:1135117 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e549302-50fd-4645-a221-102ded3af89f CLINVAR:1135117 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2512b4f3-e624-45af-8913-30741d6f8605 CLINVAR:627081 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da54fb27-eb91-49a2-b302-af4cf377afb2 CLINVAR:627081 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02853706-fa1d-4b23-9681-f2e2a4122ba8 CLINVAR:4468 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14d22e81-adc8-4084-b5fb-5a498ace4f4f CLINVAR:4468 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f752db7a-03fd-41b3-b9ea-1498c1c0181e CLINVAR:690480 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fc1f6e8e-1762-45aa-b4cf-84b2fd57bc10 CLINVAR:690480 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 226f8c0b-3bbf-4b95-a14b-906fbf1fd6ba CLINVAR:412119 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ac68dab-e691-487a-829e-70b47c8133a1 CLINVAR:412119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cb23c8b-fab5-46d5-bd0a-57f822d4d597 CLINVAR:254350 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c74df54c-753b-4239-9463-0f6cfba1d992 CLINVAR:254350 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7774e9f4-4ac1-42ca-b007-00defb334c6d CLINVAR:690454 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2c70f7d-1d76-4f48-810b-9fdf52901ca6 CLINVAR:690454 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 350d5b5a-3f41-48e1-b7c0-061e3c6a6054 CLINVAR:254344 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5722b006-a55b-4129-b00f-67d678bd38da CLINVAR:254344 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54ba5181-5f67-4bb9-ae33-f2d9d7b8df2f CLINVAR:254287 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4f15185-b8e0-4144-914b-2f36b6ae8e68 CLINVAR:254287 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36a0d353-e50e-4c51-860f-053320a70e40 CLINVAR:429113 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 87a6f820-787e-4ee0-bd3d-91dfc8b81b2c CLINVAR:429113 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d0f74e5-62df-4875-bc1a-bb92f97cff6b CLINVAR:254298 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d20993c-2e1e-4e0b-b692-ab21ded77576 CLINVAR:254298 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdbc98c1-1fec-4807-a5ef-6511a879f5ed CLINVAR:254355 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3bed96b-65c6-4c7b-91ef-51dce38afaf4 CLINVAR:254355 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9853707f-1e63-45ab-b94a-0249324fddb1 CLINVAR:254310 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a93e609a-45af-4bd6-9866-efa1fe67aaa4 CLINVAR:254310 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b81c1e30-0edc-48b5-bddc-7dd40c58e29a CLINVAR:429148 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0271ba70-b242-4c74-8cc1-01d1054d9a16 CLINVAR:429148 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a87168b6-8572-4247-8f12-500f5dabcfc4 CLINVAR:429116 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5057a8a7-378c-4866-9d5c-11fe2dab880b CLINVAR:429116 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2efb4056-d3dd-43fe-96a3-0555e03361ca CLINVAR:477261 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 768331d7-a006-47ab-85b7-87f07b71e63e CLINVAR:477261 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18fdaddf-b1a6-4518-95ff-68809202a98b CLINVAR:436614 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b2dabf7-a429-459b-9163-19fb911a7c47 CLINVAR:436614 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9813cae5-0ba6-4159-897b-bfb72e0eb326 CLINVAR:627384 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6382285-858a-4923-bf7b-6e4b8052b749 CLINVAR:627384 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d454a02f-f40c-4042-a69a-351fb06e10ef CLINVAR:575111 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5d14d25-3a1c-4956-92c6-38d84c73a9f9 CLINVAR:575111 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a548b01f-846b-4a37-bcb3-ce17213d14f5 CA410202503 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9aac8186-b711-4ad4-9a77-9da5a4720f99 CA410202503 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45e5156a-56e4-4440-ba57-64b1ab7874c9 CLINVAR:464008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0b71960-1b4f-4aef-acc5-08f6a26306ae CLINVAR:464008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 764d5c65-8fd8-4194-9362-403f14486faa CLINVAR:574330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87d4f31f-6a4b-497f-9204-c453b7ceafb2 CLINVAR:574330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ba55106-859b-4fa8-bb3d-df85ae7444b7 CLINVAR:580203 biolink:causes MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c8fc949-2d10-4831-a399-4f70560ff0be CLINVAR:580203 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80d19091-37b0-43a9-aeaa-f37482e2066f CLINVAR:650411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4912c9c-027e-4ff4-96a4-c7309f59284b CLINVAR:650411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a7b4e4-c017-46e6-a5e5-2388e5a2e490 CLINVAR:566588 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2663ab1-a04e-4a2b-808a-706b1f22e198 CLINVAR:566588 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7df4516-ecec-4e80-8b31-ed4ceec17865 CLINVAR:649946 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8db4f38d-9e79-4456-ab8c-50ac8bbe4e39 CLINVAR:649946 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b413533c-fc7e-4a2b-ba63-cc28f477e779 CLINVAR:392183 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e405621-d1be-4ec1-997e-b344c8067e35 CLINVAR:392183 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0cbdf6b-fcf3-4aaf-a9c7-4bf29ca2040c CLINVAR:242130 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 834300ec-1969-46a3-b5cf-db7a1e079d96 CLINVAR:242130 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a496151d-28d1-44b2-a922-f0f6b1d477e8 CLINVAR:947388 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fca4e8da-3daa-4ed7-9b5f-770e9fd0d386 CLINVAR:947388 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 037496cd-97e0-49b8-9ba4-0c3ef246e22c CLINVAR:412120 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8808c159-7e82-40a4-bfd3-4b9bd8bb0cb6 CLINVAR:412120 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2fccfe3-6ba2-47ee-a10f-791d319df6e0 CLINVAR:242076 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c45ed135-311b-430b-9882-2ab6f5ad47bc CLINVAR:242076 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc1704d7-c652-4c43-b7c3-41328295266e CLINVAR:477260 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ebf7cc1-dfe8-46f7-8f2c-326df6c416cc CLINVAR:477260 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a32ab2ec-9596-45d6-b826-34c0590eecac CLINVAR:690445 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6b568bdd-fb47-42cb-97ad-da57d3ee928a CLINVAR:690445 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 743dd49a-ca4a-4703-8c13-32fa9840499e CLINVAR:133202 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b3a781f-0af5-4dd1-988c-8058938c96eb CLINVAR:133202 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 849f3f14-0dec-4a8a-ad17-ad0c46b75a44 CLINVAR:478159 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cadb7990-021f-46ff-a2d8-78cc309e8a52 CLINVAR:478159 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6553cde5-45b9-4102-8a6a-9d04a5123e2a CLINVAR:133174 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6b455a83-fe60-46aa-9501-9e99976e849d CLINVAR:133174 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b59b293a-e457-4598-936c-48c8be73693b CLINVAR:65981 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74becbbe-aaeb-4e03-a07b-7e449e00ebe8 CLINVAR:65981 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69b4a8cc-006b-4555-b45e-644fc06b6b65 CLINVAR:133028 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2068a5cc-07e4-4569-b00d-3f841cdcf81f CLINVAR:133028 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e33a975d-754b-4e68-82ef-6aeef37bab37 CLINVAR:133012 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b98196b-4bc7-4a7b-83bc-70b0df381c1d CLINVAR:133012 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 466d8f22-0ce5-4879-8176-c1498bf5e61c CLINVAR:133098 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 559eb53f-b001-4709-9256-f095720114df CLINVAR:133098 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc899c25-1cdb-4b7a-8857-785360a6eefd CLINVAR:133074 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac12fea8-718b-4c58-817e-b4fb98eda777 CLINVAR:133074 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 060989c2-cdbe-4806-a281-dbdb0d985695 CLINVAR:133072 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6041082-9f54-4a09-aba4-bc596c11b101 CLINVAR:133072 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47795c44-daf7-404b-bd92-2adb32b47130 CLINVAR:12978 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 454b00b8-67f5-4c3a-8a2b-e1b0184ebdc7 CLINVAR:12978 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e4dd557-a665-4916-8f82-7c7aafcb8b15 CLINVAR:133240 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf8bc252-7ab6-4e54-864a-70cce2c6207d CLINVAR:133240 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c8933c4-dd23-48ea-93f6-808fc1941ad5 CLINVAR:65980 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9f84dee4-544d-41c1-8653-676854547358 CLINVAR:65980 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d3c7554-81b4-4572-8571-352986661038 CLINVAR:65979 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 174d3999-6234-4f05-b48b-a51071100099 CLINVAR:65979 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e769d62d-3385-47ba-bf7b-4522968e46b8 CLINVAR:12966 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac431ac8-a9d0-4733-9e76-2e782d942330 CLINVAR:12966 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da7a0a22-3d8b-4ac3-afb0-bcfa5f504c95 CLINVAR:12970 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8ba3170c-4f13-4432-8aaf-6ba3d9cfcb6d CLINVAR:12970 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e0c3b0-9396-4154-b6f1-53d44e72c615 CLINVAR:133189 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 340ac5f0-0e3c-44c6-8022-549beef021e5 CLINVAR:133189 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8122a487-36f2-4e06-90cc-842b303cba0b CLINVAR:133183 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f07ee939-bf44-45b8-82cb-9f34f285465e CLINVAR:133183 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b68d5a7-5990-4105-9c09-2fea8b92b604 CLINVAR:133180 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc6dac4e-3008-455c-8262-2df167baada3 CLINVAR:133180 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b13709d-abe0-40b0-a6a2-07054da86523 CLINVAR:12965 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab5d6d9b-682a-40ef-8039-e5cd990b1d01 CLINVAR:12965 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65218c7f-b831-4b03-a840-e86a95ba9fd3 CLINVAR:198090 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d352aa2-2b2d-458c-b650-96ffcc6a3829 CLINVAR:198090 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aca47f51-8041-414e-b900-f2dfe9a9f090 CLINVAR:448981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3843c36d-0720-4354-a095-93067f40078b CLINVAR:448981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0b20bb2-a83e-41e1-807e-1435764bf904 CLINVAR:932849 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11b92d39-761c-4543-b35e-1f875964aaa5 CLINVAR:932849 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97767c3c-ada3-4026-800a-1909da5ed409 CLINVAR:932850 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 68d43a4c-3679-47e3-acb6-4774933ea27f CLINVAR:932850 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e247812-2074-4e2c-8f05-c7a3be65be0c CLINVAR:840694 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 656e8e2a-441a-40f7-a119-8630d0abf8d7 CLINVAR:840694 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c795dac-8bb6-4977-90c8-a46a9a923743 CA397723954 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10a48778-9097-4709-b5aa-d22d37ef72a9 CA397723954 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a548f223-7a08-417f-824f-096047c97915 CA1139768925 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 640bf148-6ea6-424d-ac26-23beb35ef387 CA1139768925 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eca4c128-8726-4381-bc6f-31a3aaa4d707 CA16020958 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4fcf2680-1e28-484d-bb9c-5921e82f1186 CA16020958 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2890f77c-b7a6-4ea5-a32a-3d24b956022c CLINVAR:102522 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8df6ac52-38f9-4b6e-9f31-0c9ff9127354 CLINVAR:102522 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1848138-f4dc-4eca-abb9-ae3f19cd443a CLINVAR:102524 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ebe7ec85-285c-4ba3-8e1b-f6328ef988e7 CLINVAR:102524 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17fbc585-a78c-4ee4-a07e-2272e5895c38 CLINVAR:102548 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f1bdc195-de20-4c97-b626-1e7bb4a4c997 CLINVAR:102548 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a479b414-65fe-4fee-92b0-b10b43911014 CA386304006 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7dfd7432-17a1-4e73-b7fa-3ade532ecca8 CA386304006 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e49d648c-2071-46d9-bba3-b44d594094fc CA16020928 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43953f99-1169-4274-9c26-39fec3ad4958 CA16020928 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601f29e5-1ccf-4fe0-a4c9-cc6d14d47397 CLINVAR:102855 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen face7541-bd3b-44ad-a9eb-5ade12f69845 CLINVAR:102855 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b8e5ea1-a424-42a4-bdf4-b2b4ca00601a CA386493446 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f12fa48d-11a7-482d-9dbe-a049987e5a3c CA386493446 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7630be4a-a87b-44f7-9ed8-5577f6aac145 CA386493436 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bad6e137-1267-4868-808b-d6e3a9dabab6 CA386493436 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74cd8089-ec7f-413d-9a82-0c29f68a63cd CLINVAR:164401 biolink:causes MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1316cad8-ce97-4bf3-8f9f-d26d741ab77f CLINVAR:164401 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7b6ada8-9b4d-4d84-bd5f-639ef1b69cf4 CLINVAR:43098 biolink:associated_with_increased_likelihood_of MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4711c92-3156-462b-a6c2-b5b7b110cddd CLINVAR:43098 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16f38311-3124-455e-80e0-93b748ecff72 CLINVAR:177627 biolink:associated_with_increased_likelihood_of MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5252bd0b-88ef-466c-ba10-bb62ae0d2e9b CLINVAR:177627 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7a9e193-8cd1-4c7e-a497-e5497ac7f4b4 CLINVAR:181267 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e36079b7-536d-48d9-9972-6645c61530c1 CLINVAR:181267 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a29bfc2c-e6d4-4652-9f99-0fac7a22568e CLINVAR:42834 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a59a8bf0-4882-4cf0-a3bd-c643f6f41fa9 CLINVAR:42834 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd26c51-b6c1-4338-b0c8-da3f61b10515 CLINVAR:228918 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea15f357-4b1e-46ae-b68f-6458db1e8ce3 CLINVAR:228918 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be02af9e-a539-421e-bc89-23908b90f10e CLINVAR:181349 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ab167ef-797f-4649-9126-4a9c3a1bc6b2 CLINVAR:181349 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd67522d-ba6b-4cb2-a000-2c7929168060 CLINVAR:42912 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68475409-9bea-4a9c-90b0-981c7b77c5eb CLINVAR:42912 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e5e9c3-344c-429f-812e-9eeb7720e5b3 CLINVAR:181202 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f2ed9f9-450f-4d25-9077-4fba68e693e9 CLINVAR:181202 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04d4ddb8-52e4-452b-8776-0e2b3f2ef17d CLINVAR:164351 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c812af67-8191-4c68-88b4-5cae72165223 CLINVAR:164351 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30b05bef-46b0-4c81-b336-d5af5ccfedb3 CLINVAR:43110 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 406a9588-2da1-4555-825a-700ca41652a1 CLINVAR:43110 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c8678b-4a15-406c-bc11-6654dbc457fd CLINVAR:181324 biolink:genetically_associated_with MONDO:0005045 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7c342e2-59d3-4897-abbd-562e951aada8 CLINVAR:181324 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3cba90e-4b5b-4b8e-b596-1ada5c5488b9 CLINVAR:264607 biolink:genetically_associated_with MONDO:0005021 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9ba07e2-45bc-47ae-9a6b-6b648ac1ec1e CLINVAR:264607 biolink:is_sequence_variant_of HGNC:7577 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen febd40d6-6af9-4b17-8fd8-b328fbeb5310 CLINVAR:43196 biolink:associated_with_increased_likelihood_of MONDO:0700087 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8cc2b7c-177b-4a9d-9da1-f3d994802664 CLINVAR:43196 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc5f3956-7a55-46b8-9338-ea3ece382229 CA1563057 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75c06f56-db96-40cb-82e3-ab296312ea05 CA1563057 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12f27178-cac4-475d-aad4-f9fc401461e3 CA386964305 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3467ee73-84db-45d7-9d6b-6c611ff46d7c CA386964305 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d23613d3-7f6c-409b-a8ee-4ad9c30fbef2 CA386964398 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 116c3fe1-96bf-417c-85e2-17cdee9e0042 CA386964398 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67cbcc59-c4dc-43ec-afc4-e0109b26cb9a CA386964418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c218d96-4117-405e-80fc-6d3df9c578bb CA386964418 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a83875a7-28e9-4819-bcd0-c09b8888fe15 CA386964769 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d267ea71-e76b-4b3f-ba62-820d747254b9 CA386964769 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c6bddda-b5e8-4afe-934e-55c623de9f4d CA386965156 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fa4ab07-edc1-4c1e-8f1f-3c0fb86af606 CA386965156 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1eb4f8bf-6ba2-43a9-9437-357057a1eb55 CA6831794 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 514ead4b-eede-4703-98e5-75330254f099 CA6831794 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3537ea9-1552-4db0-b684-e465b8def8ec CA386967815 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5047d731-7ae3-493b-8184-e9a9ae750bb2 CA386967815 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb5ff2c-715c-4c7b-ad22-aca1ce2949b4 CLINVAR:36833 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a680778d-0f02-4f05-9c9c-af8fa6b14122 CLINVAR:36833 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8df5b7cf-bfe3-4ffd-905f-12caa8dd4a7f CA386958691 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7186b636-ab04-4ee2-be78-f446975441de CA386958691 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6752e78-e315-4436-bd81-bc8755b0d030 CA386972011 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab61742c-7064-43eb-b0b8-a7a22ce919be CA386972011 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9db1d81f-90ff-43eb-b27c-f772ba95e331 CLINVAR:203585 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec67b69f-6e46-4aee-8b84-3a0920c13efb CLINVAR:203585 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 026ebd63-a843-48eb-8db0-9d44769523ee CLINVAR:371449 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4c8d8e3-144a-40b7-a72c-9f948e8ea566 CLINVAR:371449 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 419c4169-b580-4cd9-b8d9-257504477d40 CA397722455 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 833718c6-0e09-47a7-86af-7406b1affa37 CA397722455 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6dcc5c9-29e0-4b1a-a20b-1c6e3b5d8181 CLINVAR:21025 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f4670b5-a29f-49ae-8408-ee10c836194e CLINVAR:21025 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f253aac2-9394-4b13-8f63-b90b9cc3f713 CLINVAR:92275 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fbf4725c-caa9-47c2-8f5c-77b45f266130 CLINVAR:92275 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4da53390-b741-443f-a4c5-f9e79d60636d CLINVAR:440555 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7b5952a-e2d8-4900-8e54-38333a136810 CLINVAR:440555 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cb6a76f-a066-45c2-a6ab-45e8f1e89e60 CLINVAR:251105 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25716597-37cf-4a97-a071-c0d38601ea10 CLINVAR:251105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 210c87b0-2999-428f-8ecd-9b418bc39f41 CLINVAR:251699 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c0c2fe3-c4bf-4e92-8f60-70aff6905288 CLINVAR:251699 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b44060f-b574-4727-8958-175d1e780282 CLINVAR:3695 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 89eb38ba-a56a-4c44-9ff3-43ce9fdc3368 CLINVAR:3695 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a10c9c0a-9097-43a7-bf14-172780e86c45 CLINVAR:36454 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f6299ac-9c89-4f5c-b5b1-68da566250cf CLINVAR:36454 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a304adef-2e76-4897-9d4c-8067e6866fda CLINVAR:162499 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea2ae4db-a5ee-4f5e-9853-6b9841ceeeae CLINVAR:162499 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b28be91b-08d0-4c7b-afc5-2cc70ad6d598 CLINVAR:226363 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f04055c1-0fb4-4653-bfbd-72e282510cac CLINVAR:226363 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1707be-67db-4a9c-9f88-e6319636e63e CLINVAR:251938 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea5c1f9e-17ef-4b4f-b1ee-1a86a0b6552a CLINVAR:251938 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9a54fe8-2393-4cd7-90b7-e205708f8aa1 CLINVAR:251085 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d76cd905-19a6-4be3-8014-8fe3e2de763a CLINVAR:251085 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfeba199-1fb7-4c03-9eab-df5eb6c30eb8 CLINVAR:251436 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05730352-360a-498a-a1ba-b155b5c130d9 CLINVAR:251436 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61666297-8dae-4db0-860f-f139d4ca36ad CLINVAR:375806 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d13f239a-127c-4cc0-ae5d-c34910a5e495 CLINVAR:375806 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20dc9004-44a8-4afd-a338-2f93ed14cfbc CLINVAR:373769 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79bfc9ee-20c4-41a8-9c76-0c4574544089 CLINVAR:373769 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f159e768-557f-40d9-86f6-2f713b91bee5 CLINVAR:252302 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24c15c73-2822-4bdd-9fb4-6186828f7546 CLINVAR:252302 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce60ab9d-90d3-46ed-9b93-fbf03ccd8252 CLINVAR:250954 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72a2e529-5982-434e-b2a8-8969c66f935d CLINVAR:250980 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f94b4dc2-598c-401f-bd7a-d00f8888a909 CLINVAR:250980 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a913700-7bdb-4b5b-bfc7-1aa0b2b8ec44 CLINVAR:250981 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a0900d8-caf3-430a-8724-3d135f43d469 CLINVAR:250981 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e88e8b-e8c4-491b-8a37-b38bf28e64db CLINVAR:251926 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 163a2e54-888f-46a4-9f64-a62a2bc2992a CLINVAR:251926 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14a06d74-5dee-4fdd-8b1f-23cba4f36820 CLINVAR:252330 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 748b714b-d44d-4f55-9448-0f15c1e15837 CLINVAR:252330 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb77759-edb0-4018-a2f4-b248c7246553 CA1244346 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a23d509-9bce-4349-99f3-505dd7b98db1 CA1244346 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a869d13-9393-42ad-9f5a-eb6361249f4c CA343720163 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 467aa4d5-983c-42d5-87dd-769d67eb5451 CA343720163 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce6a6ab4-d80b-4988-baf2-2391f34fd66b CA343720077 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0caf328b-13cc-463b-b316-8e69a1875436 CA343720077 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc1907a9-c596-480e-ba86-21f96e96a182 CA343720226 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2bfc79e1-f473-45b0-bc97-e7e65c8ffd67 CA343720226 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d867aab7-e686-4ec7-84f9-c65e483d0429 CA343720151 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec55382b-74dc-4a5f-a318-694dfb076343 CA343720151 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75bca9e0-4c07-44ba-81c1-221e55f1bf5c CA421938891 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3222c919-b52a-45b4-901b-9e2f8ea543e9 CA421938891 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbdf7925-eef4-4434-a8bc-89579b871ae3 CA421939550 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 924f27ee-3249-4e22-a39b-cc04af2b69e9 CA421939550 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74e4bfa3-4ab7-4eb4-935e-4b55047f15f2 CA421939469 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0080e90-e3d5-4431-9e98-80964f8c485b CA421939469 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83261695-6f5b-4b2c-bdc3-3551fc1c7de5 CA1244262 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63d5da3c-3fa1-4ef2-afb1-b3569437224e CA1244262 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1be0731a-a783-4456-a672-f77b64dc234a CA343717998 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 439b2bca-d69e-48ee-9527-aaa7838b7cf2 CA343717998 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5338fdaf-b62b-477e-966b-5e3561022a39 CA343726928 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc00f745-be35-4cbb-aa13-2a6e07deb9a7 CA343726928 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d9fa0f5-c40b-42c1-a235-4a7ef70785cb CA1244332 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c981634-3ebf-4ee1-b777-5d1318500136 CA1244332 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f17f078c-3aca-479d-8729-86cebf6a1e7a CA1244294 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e6f41e7-0b41-4881-be59-6aaa474e6858 CA1244294 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89c2180b-dea7-4547-8179-46a8e478a264 CA1244266 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7be55444-0b02-4763-98a5-813168235c88 CA1244266 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52f1ff8d-2d3e-4afb-825f-cfcff9ad5bd3 CLINVAR:9712 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f5f24a0-dd76-4c4d-a502-adcd979f61c8 CLINVAR:9712 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf452349-78ec-4c62-8c2c-6b968e5714bc CA658682658 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a888ead4-ca4f-4690-af35-21b0e23ea7e6 CLINVAR:693516 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d68d50d7-cd6a-4536-be45-d2579e480b77 CLINVAR:693516 biolink:is_sequence_variant_of HGNC:7461 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dd2c61c-cddc-42f9-a828-6ddceac6edd2 CLINVAR:9715 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a12f46de-9342-47ab-89e3-25ddd18bd338 CLINVAR:9715 biolink:is_sequence_variant_of HGNC:7458 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49a61cdc-8318-4bf3-8d8e-159b922f5239 CLINVAR:65518 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ba6a9ecb-f1ad-41b1-9314-944312bcec9b CLINVAR:65518 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 641a7482-4471-402c-a7e0-9fe8d0d439ca CA913169025 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 462b5757-d8cb-4756-aa02-acef354e3620 CLINVAR:11505 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac90bbad-2365-4287-9332-d645980ada10 CLINVAR:11505 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37c454a8-c1b1-4d55-a05e-aada95de3107 CLINVAR:929426 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4e29f92a-d81c-4b4b-b53a-0a2712f559c2 CLINVAR:929426 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64bb556a-15f2-485b-b5ae-1f5cee2ee758 CLINVAR:489299 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 719e1007-692c-4018-9f8a-d2dc09e33f68 CLINVAR:489299 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1179e82a-be8e-4085-b67d-5beda4450d85 CLINVAR:432427 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0164e6ac-a2fc-4cde-9934-63c4cdd68939 CLINVAR:432427 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6b7bbd-8687-42e5-9cb8-21bf7a266fa3 CLINVAR:643438 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e311e6ee-31c7-46a7-9515-a2df2973815b CLINVAR:643438 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9df58a9-5f7f-4e1b-96e6-5bb02b443153 CLINVAR:487576 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0922904e-bb63-4191-8140-fdc2dc7cb393 CLINVAR:487576 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3233997-fd07-47ee-85e9-feea88c41557 CLINVAR:143749 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0abca54d-561b-472d-8b00-f668efd5d310 CLINVAR:143749 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8da3946-43bf-4457-a184-bb8f641efca9 CLINVAR:156615 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3d34beb-162d-40b1-b682-e1ce9792563e CLINVAR:156615 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 041c4960-0e08-460f-96f8-83b5e59ee78f CLINVAR:143754 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6fb6f517-dccf-47d4-a86b-849427eb089e CLINVAR:143754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60effb8d-8de0-4bdc-bf12-3b814dd6a7d2 CLINVAR:133026 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a4bcf35-05e9-44fa-89c6-40fdc8a373ab CLINVAR:133026 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33b32be5-772a-4eb1-9062-7f6a06d53db3 CLINVAR:650932 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d23f85de-ba6f-4649-9155-4538af383a24 CLINVAR:650932 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55a3ed8b-f38e-45e6-931f-c8d2c3d0f468 CLINVAR:65996 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a25c99ee-f95c-4797-9542-07c201b174fa CLINVAR:65996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45a81c5e-98af-4544-8d1a-e91d3aa94eac CLINVAR:803557 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b520c557-0b9f-43b2-b331-572f5a734f90 CLINVAR:803557 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 731fa6e6-1df0-42f9-8ad3-e6f5bb02d967 CLINVAR:133027 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4d22d02-abd8-4162-9ce5-e37d299029b3 CLINVAR:133027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0704477-ab36-4956-8107-a56fd23e1354 CLINVAR:590582 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d5d0a807-0283-443f-b132-28ea34a46a1a CLINVAR:590582 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f26d1b2d-2621-4bc5-bd5d-bb792508d389 CLINVAR:803555 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 922164e1-434b-429b-95d7-97baca345180 CLINVAR:803555 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b714731-7e18-4bd3-a861-654156d1d9f1 CLINVAR:133203 biolink:causes MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ff74f0f-c9a8-4c56-ac24-f0713f147112 CLINVAR:133203 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65816934-c297-4b41-9f73-253ed6cbc625 CLINVAR:803556 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b24570b-e9ad-43ce-90e6-8a18921575ea CLINVAR:803556 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af673a9b-c739-4e56-b952-6d1cc8db6a19 CLINVAR:938242 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c6b4bec-67c0-410e-941b-5f52fb0d2a97 CLINVAR:938242 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 460d8a2f-392a-4b13-801d-77c483a1dfb1 CLINVAR:4021 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b1e30990-3459-4a9f-bd23-033b9d0ba8a5 CLINVAR:4021 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef391c2b-c9e3-420b-bed0-b77905c4e19a CLINVAR:456391 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0a9b388-407b-4f8d-af63-d83d42dcda0b CLINVAR:456391 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6932683b-6724-44ec-bdb2-d6f5f6c0a650 CLINVAR:286469 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fdf2f85b-0cde-4f60-8aa6-b6da4c9592e0 CLINVAR:286469 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0679a721-1859-4f73-8974-1507144c9c23 CLINVAR:371226 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d54767a-b18a-4763-b72b-13890d814882 CLINVAR:371226 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac776a69-b152-4971-b80e-db2f268f656f CA658795267 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3178a6f9-cf51-49ef-9f0d-9fa1fb96ce70 CA658795267 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c2e5b0e-ce9d-44e9-871d-28f11341d77f CLINVAR:188786 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2ddfcdb-304b-488b-85e8-247f86582f65 CLINVAR:188786 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 739121e5-ce59-4a26-98fe-aba6f9bfbdcd CLINVAR:935199 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0efdd85e-1c96-4de5-87a0-3a26e1da6be2 CLINVAR:935199 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a3dba0-3c0a-433b-ad15-acf75f77b7c9 CLINVAR:392862 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40a87092-43ee-4dc9-b370-f440b7dceef3 CLINVAR:392862 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abf60a37-5296-4ba3-a2e8-4e56ed9e011d CLINVAR:432217 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 874f53f5-10f2-4a8c-aa35-ab6aebafaab6 CLINVAR:432217 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 232c01d9-2b86-4420-bd3f-ae25a4eaf832 CLINVAR:552527 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6dbdc9e-c281-4d91-8d15-4ff0e7ea3a66 CLINVAR:552527 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 367e55c3-17d9-4377-b2ff-58346525e14f CLINVAR:843677 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a6a258d-e22d-4d7f-947b-42636fcb0842 CLINVAR:843677 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da933221-fec6-480c-8778-8dcac2d0dfd3 CLINVAR:554339 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72ef771f-28b1-4585-ac29-567ff5abb888 CLINVAR:554339 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3d0ac54-5982-4744-a79c-4b0f25c2f4d4 CLINVAR:856881 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f6949dca-0549-4024-9e37-4737726b1c99 CLINVAR:856881 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fb8b328-c718-4cb0-af5c-4a7df7ae4a0d CLINVAR:1073045 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7cbdad99-eae7-423f-95e2-2e3d3d364b56 CLINVAR:1073045 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a20a8cf2-52fe-43ed-96a2-5f9e2b767091 CLINVAR:618506 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78bb8b4d-e235-41f0-9973-33c81116dfac CLINVAR:618506 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b680434a-6004-4a6e-b2cc-9379fdea21dd CLINVAR:846935 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cb782c52-8d9d-4a54-8dcb-6d0654a8420c CLINVAR:846935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6bd5cf1-2b8c-405f-aa48-4abbe576964c CLINVAR:1626 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dca87dad-7654-4365-af94-fb56c4fd1cc8 CLINVAR:1626 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98535851-a0ae-499a-8edd-6d82dcd41468 CLINVAR:422995 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0337042c-4b95-4d6b-9400-0765f39ba4ad CLINVAR:422995 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e30df8e6-000a-4f6f-ad6e-5d029e1ebda0 CLINVAR:932787 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 961196ed-c5d2-43ff-9da5-b74284adfdf1 CLINVAR:932787 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d47c24-da6e-41a9-8e69-bfe92b1547b0 CLINVAR:370686 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73aa5e7b-c81b-4c79-bdd2-0c6d84b710d5 CLINVAR:370686 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58178369-8d18-4bad-8e24-25ceb11d6b49 CLINVAR:203580 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5cda4316-a455-42d7-830b-5c5876fde8ae CLINVAR:203580 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6765292-7098-4b8b-a7c5-26ad48cbc109 CA397724300 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f10e38e8-327d-4035-951a-2e2df25185ff CA397724300 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2c82c22-c5e4-4c17-80eb-0917a82f57ed CLINVAR:166638 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16e72b21-6814-4d64-a146-747a709e3c22 CLINVAR:166638 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68f1a8d9-4bce-4519-9964-a52d28d62e66 CLINVAR:557575 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0274ab21-c2b2-4b4e-8d53-6ccba5970286 CLINVAR:557575 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65c08da3-0126-4622-b5c0-fff116c78c4c CLINVAR:370482 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb82d202-9a12-4d60-bbbd-a81c60144e36 CLINVAR:370482 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fdf04c6-cd9f-427e-8e31-38bd97e12c4e CLINVAR:567061 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29db85c9-67b9-4cdc-9ed3-c82cf40b8dfb CLINVAR:567061 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d53dd083-01ee-4c83-b5bb-404777bb1c88 CLINVAR:203593 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2310b54f-092a-4730-9c17-2c1653ae4c78 CLINVAR:203593 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca0753c1-2f08-4213-9682-f4e92765dc77 CLINVAR:581398 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86aa628d-9d63-4a08-8093-11ea41d57101 CLINVAR:581398 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c85bc755-534d-4260-9fea-22cbb1ef26d8 CLINVAR:932848 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cadd7570-8fa3-476a-b74b-02536ad20031 CLINVAR:932848 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6693c28a-6e5b-408b-9f70-eedce14d1d73 CA8337657 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 90dd4bca-14de-48a1-8cdb-a6edbe46270c CA8337657 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7456eb55-0d52-40e1-be3d-881b53e24700 CA397722888 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08718bc1-e859-4586-b99a-de66320b52cc CA397722888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dfca2bd-fb6f-4a1c-abc5-becebd17bb11 CA397726273 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ee026bc-3a25-426a-ada1-fc5507e46ae4 CA397726273 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce9cab18-25e7-4b9a-a14a-403bcf5178c8 CLINVAR:193541 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3ef598f-33b2-40ef-a5f9-b6298694556c CLINVAR:193541 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d96118d4-a436-4672-b641-572d0bc128a5 CLINVAR:203570 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6e41203-5975-4829-a984-92c6bad2c611 CLINVAR:203570 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be0bb8a5-ee70-4942-ae2f-f6e893291438 CLINVAR:254700 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75f385ad-0384-4ba3-b1e8-d4fc485aa27b CLINVAR:254700 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7712b685-c916-4236-98ae-cf9ca161b8cb CLINVAR:553583 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c804244-6757-4ebd-a6ce-8bfbce20b8fa CLINVAR:553583 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b84f261e-c0d2-4d72-82d9-6830b7c9ba89 CLINVAR:216422 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 630773c5-4319-4c73-82fc-7ae0fb3fdb91 CLINVAR:216422 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef5d2c74-5294-410f-9f68-62af8b8780cf CLINVAR:419119 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dede4034-5f48-40aa-a944-6b720391cc3f CLINVAR:419119 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb711031-8eee-478e-97bb-accfa78f694d CLINVAR:279878 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 184b3b7b-d0ab-4ff1-a9b4-1e61bb0f0da4 CLINVAR:279878 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2e3ab2d-dc93-44ca-9e53-9ad418418a03 CLINVAR:420491 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 868648ce-9e11-498c-af4a-93ee124757e8 CLINVAR:420491 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9d55022-b8c7-467b-a653-537e02994d42 CA346124255 biolink:associated_with_increased_likelihood_of MONDO:0010986 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 353b55d4-8581-4250-9dbd-d63e2a292ee5 CA346124255 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad86b468-a876-463c-90df-c651ad672cf8 CLINVAR:370279 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a7c3d73-4de2-44e0-8650-2ca0816a292b CLINVAR:370279 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ef53358-64bc-4d3d-9a24-41ad3064e4e8 CLINVAR:412802 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5dfd9252-dafe-451a-8df3-665f0d2e99cf CLINVAR:412802 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b85083a5-8f41-47fd-8a59-2e9986539a90 CLINVAR:127676 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60b6f2f6-f618-4868-8e6c-3e5a9515ae57 CLINVAR:127676 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8230df08-9ede-4bb2-badf-f9ce26c9a10f CLINVAR:127682 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f5bd7ab-617d-4700-9e1b-123637da366f CLINVAR:234695 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f17846d-c60e-4ac7-b6ab-896f9730474d CLINVAR:234695 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7726e2b5-dfbd-43cd-8713-4a310858e225 CLINVAR:468719 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a68d4297-98ab-4e40-bfe0-d5483878de2f CLINVAR:468719 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4000bd6b-fe34-4200-a043-e7e5b45aa36a CLINVAR:141717 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8988364-8fa7-44c4-8c93-7278bd299978 CLINVAR:141717 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae25ab5d-c031-4aa9-8e69-2025bcdb4818 CLINVAR:404144 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35f14d56-e2a5-4882-990f-9187a2e1867b CLINVAR:404144 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8652f6d8-4844-4d01-a716-d6426ec6af41 CLINVAR:140783 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78b55d3a-7b83-49a9-8752-888c5e5623b0 CLINVAR:825730 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2ef045c-cecc-43e6-b335-e6e3db965f4f CLINVAR:825730 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e1e5254-a552-4eb1-8474-b10e9a96259a CLINVAR:428199 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 240ebb1c-644f-420b-8565-562450aae91e CLINVAR:428199 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79eabe4c-6845-46b1-ab61-2fa11f06b6f4 CLINVAR:644390 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4484d7e7-bfdc-4325-a2ba-6941fc43456f CLINVAR:644390 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4862c205-16c0-44d9-bdcc-849426299136 CLINVAR:224542 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db0b80b2-9522-4377-851e-f5147432c61a CLINVAR:224542 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6428691a-f7e5-4953-b100-edcc2a3d7822 CLINVAR:619908 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8d7c9f3-6892-4137-b62b-032b81165ca9 CLINVAR:619908 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47c7dd42-6d1c-42dc-8a9c-f7a0b0ace0c7 CLINVAR:484605 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5df6b22-b192-4a33-af8f-aa886c47d28d CLINVAR:484605 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03e0048-c70a-4725-be8e-df47439c2968 CLINVAR:492332 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5ee0a6d-817b-49de-9fae-bb081bbc88f9 CLINVAR:492332 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75ffbab3-0daa-47c6-9da5-ad42342818e4 CLINVAR:316208 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6eccc4c9-d065-46d5-9cde-9c67947d43c3 CLINVAR:316208 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99bdad2b-0ff8-4c23-8173-51e751539e28 CLINVAR:589915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7340de12-71a2-4f2d-8d90-3e624118a3eb CLINVAR:589915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c5ee796-eddc-4624-b8c0-7734d7c93a3e CLINVAR:598112 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7108d787-7418-4504-9cdd-113dbc253e5a CLINVAR:598112 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf21ba2e-99e1-4fa5-9e40-0213b0f7dfaf CLINVAR:625953 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d72c7a0a-f271-4df3-82c6-9abca8def7fd CLINVAR:625953 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec9edabf-78d3-4917-b485-a86a5a8aeda9 CLINVAR:570204 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66b0f92d-ce27-43b5-9ac9-ad0f75c62939 CLINVAR:570204 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56cb8c0a-1544-4f43-a582-900251224ef2 CLINVAR:654184 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59df9271-613c-420d-ae52-e6ea9d9e8696 CLINVAR:654184 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6191291-efe5-4a3f-80a4-5a6b8de47dc0 CLINVAR:316210 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fae118b0-5dfc-4148-91f0-e76496a8f753 CLINVAR:316210 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f742099e-edab-48ce-9946-696d58f3b50d CLINVAR:55918 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen db64412c-1837-4ada-96d9-3eb66cb3ea9b CLINVAR:55918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 795fb030-f04e-43e1-8599-24f416d629d7 CLINVAR:205617 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0af724e0-4de2-4dd9-b699-4ea0e3ba0921 CLINVAR:205617 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d93d6ecb-c553-47c1-8f1e-a88b9a144d13 CLINVAR:55919 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 469a39f8-f1a2-47ec-952c-76c928f4b156 CLINVAR:55919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03d01324-6a2c-4349-9b91-b19875c59fb5 CLINVAR:7302 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17e678a5-b45c-4721-96a9-de9cb86758eb CLINVAR:7302 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da233ce0-e74b-4b88-a5fc-a2b235a90c5c CLINVAR:55921 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 23036429-ece0-4b1a-951c-244c431ec78f CLINVAR:55921 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a174954-82dc-4630-bddd-602bc38a25c1 CLINVAR:21299 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8c65b23-ca0b-4633-bbe1-ab51ab50eaa4 CLINVAR:21299 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b26f7c4-2c12-447c-9f10-1872503e2452 CLINVAR:572733 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9126888d-ab94-495a-9228-57f3d78cc80f CLINVAR:572733 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92252915-14aa-464c-9069-f1053bfa6b83 CLINVAR:21065 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1ca177f-d51f-4179-95e2-24f2808900a4 CLINVAR:21065 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4916a357-bad5-4bdc-9750-4a1b7b1329c9 CLINVAR:205596 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3f60194-97cd-4e77-8aae-2dd1fdd439ee CLINVAR:205596 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdddcbef-84f2-4711-b039-516adc08ab72 CLINVAR:544252 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 869428ba-9f7e-43ae-b447-b75aed30ec01 CLINVAR:544252 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b79e9f29-e5d5-4dfe-9f58-65c16f386e7b CLINVAR:205595 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 403a0c6f-ece9-4429-afe0-b0358d35feed CLINVAR:205595 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f482ad8-82d8-4152-94aa-d2a1efdb83ec CLINVAR:205594 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd48c9fd-b294-4513-ac27-5972f410fe0d CLINVAR:205594 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b7577de-ee90-48e0-844a-d66a287a4ba4 CLINVAR:445930 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5248e32-7f3f-45ed-9b20-971d4beac71b CLINVAR:445930 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen def389e6-d301-49f3-9805-4724ef9f3711 CLINVAR:205569 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d490c904-fabb-4395-98bb-eb81ce190baa CLINVAR:205569 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b22937a-0a49-4d0b-8008-2986695ec31f CLINVAR:205592 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f58553c6-ab19-4ddc-b256-a94d21a4eea3 CLINVAR:205592 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e7acab5-add7-49d2-a52e-c302ff7db557 CLINVAR:577478 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b284fe21-7691-4fa6-94c2-53b42b07356d CLINVAR:577478 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad64b53e-9734-4c7d-90f4-823d84d943cd CLINVAR:544261 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9212bdb8-70dd-4637-ae34-fffe997b5525 CLINVAR:544261 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2e28919-c4fc-4cc4-a9c7-9ebc358d9794 CLINVAR:205590 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f73fa43-8275-46a6-bd4c-001d9c1981c8 CLINVAR:205590 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29c65577-cc10-4901-8006-bdde87092c83 CLINVAR:205584 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 117640e1-ac28-41bf-aeef-4839ca4106d4 CLINVAR:205584 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 453a43f1-6642-43f3-839a-d9e2faca24f1 CLINVAR:431959 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f1193cee-4b54-4f8e-aa89-41afce1f1065 CLINVAR:431959 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14d76ed0-72bd-4143-9e0e-aefd4aa80a1c CLINVAR:495685 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac33357f-ccd3-4912-9584-26c8ea74feff CLINVAR:495685 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbeb8eec-3d02-45bd-af85-a1cbe9d3bce4 CLINVAR:205581 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b6d10fd8-e4f6-4bad-b762-058b5ada529e CLINVAR:205581 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d928ebc6-3359-4400-abea-7dd06819d028 CLINVAR:513151 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 732d5af4-3937-4a21-8931-7ec694bf2079 CLINVAR:513151 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deca862d-da8d-4b58-8576-a438d1fc84d5 CLINVAR:225369 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da5e12e5-d544-45bc-b359-7f6ef205cd8a CLINVAR:225369 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc5e8dba-6f67-4e81-aff6-23fa3d7e38bc CLINVAR:664123 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53743e0a-ee59-4aa7-bbaa-c225f678b05b CLINVAR:664123 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29ffd7d1-0254-49d7-ab8f-3451c3e63367 CLINVAR:205580 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b07861c8-5676-462f-800b-27735fdcbe73 CLINVAR:205580 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf1311b2-73f4-4b2b-9346-f6d52781bfd3 CLINVAR:566624 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 32e04acf-d6ed-4fc4-849b-f8b3037fc450 CLINVAR:566624 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9643924c-5cb8-48fb-b90a-9e00166cccfd CLINVAR:8302 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a3eeb57-27b2-4bfd-bdec-f4481a444332 CLINVAR:8302 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 922b232a-18de-4ba0-b8ce-8d62983b30d5 CLINVAR:21066 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b8c2466-8d24-436c-9a2f-261fc7af69cf CLINVAR:21066 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4a392f5-6c5d-47ba-b7f9-052e3c0e686a CLINVAR:666596 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 765ee2fc-1738-44d8-95c7-5e2cd0ee18fd CLINVAR:666596 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b49ea2-8e95-4c04-857c-cd5888ee73c1 CLINVAR:666588 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd4bc956-f4e9-472e-a08e-1ae54e4fdf40 CLINVAR:666588 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ddd03a0-dfb4-4c18-af4e-4006f0848a92 CLINVAR:392671 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 991e9b6b-da29-4f50-8844-9853676d7332 CLINVAR:392671 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61320838-e96e-40a7-8132-45df2261e8bd CLINVAR:533702 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41c2fac1-3d77-4d3b-ba0d-c8878da88f10 CLINVAR:533702 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed276442-b603-4116-b1d2-c6a089bab600 CLINVAR:655315 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5714badf-c481-459c-b05c-20a2ca839333 CLINVAR:655315 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76eeefaa-8cf2-4b13-afe1-767207c17441 CLINVAR:432463 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 511baa58-3d2c-4462-9951-187d0b5f105b CLINVAR:432463 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ea2ac38-9998-4a11-83aa-e0574f4ab752 CLINVAR:465148 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3fc61be-2cfb-4815-a0b7-c91c89ae6676 CLINVAR:465148 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 028326c8-9ada-4921-af7c-6dee2fe8a23d CLINVAR:643295 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08fadd8d-aabd-4f7b-9ce8-aeb9818cb622 CLINVAR:643295 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec0d6a9f-2a41-4e98-901f-42b07ec608b4 CLINVAR:650071 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41abf102-f233-4b62-9e77-48b970460579 CLINVAR:650071 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 892ad9b3-22c8-48be-8df5-06b3908cf6ee CLINVAR:572616 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6165018-2cda-4b0c-908e-74e34236679f CLINVAR:572616 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42f02e64-4cc5-4572-93f9-493b99f6a986 CLINVAR:410221 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b598b925-9fe2-4e97-93ab-b3c889c1fa77 CLINVAR:410221 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1a0c8c-53b3-4ccb-a6ae-37be24567cb5 CLINVAR:658337 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d92567de-6f9b-41ac-b35d-299b99b3b5fc CLINVAR:658337 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da326846-181a-4a80-8686-7672be2f36f9 CLINVAR:21448 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1388906-3c75-4bd1-b189-0b8025c0773b CLINVAR:21448 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58217a81-690e-47e2-94f1-7f3b97df17c8 CLINVAR:652028 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e36baf5-88e6-470a-9999-d38bee222b26 CLINVAR:652028 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61214a30-1f08-4127-ad53-1ab1ba47f6e2 CLINVAR:449366 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6b851e1-1a8e-411c-9995-ef8618f03649 CLINVAR:449366 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6c54107-9c52-4d64-9c8a-e2f1565f452d CLINVAR:635461 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ccb1541a-a45a-48fc-81bf-aa7335c5fb51 CLINVAR:635461 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018e4d3d-10aa-464a-826d-3e7d55751516 CLINVAR:452407 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9ed7908-17d3-4447-b80c-ad52fe197195 CLINVAR:452407 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d251e9a-ea3d-4f61-9fa9-8ddd460644cc CLINVAR:416002 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27d6110c-64db-4886-aa26-fdae3d5df460 CLINVAR:416002 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fcda211-b42f-4cfb-9830-215e3be29806 CLINVAR:633583 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7b9902c-2f92-44f2-8da6-ca9205f0a26b CLINVAR:633583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d59d78c6-4d56-47d5-ac77-cc4c2ce34daf CLINVAR:586615 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5619a804-4bdb-41be-8f40-b77908f6916b CLINVAR:586615 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b6071c0-83c3-4736-aceb-ce359ffce690 CLINVAR:21017 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c397b80-1935-4d20-81a0-8e6444e95399 CLINVAR:21017 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f8f8e96-f1c1-44b7-9143-5c9003056aca CLINVAR:92276 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2ae41d4-4d1f-4daa-867c-988146ac151e CLINVAR:92276 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a590bb5c-6c1c-44b1-80a3-e5e6b53f930d CA414802316 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 12cd4dd8-2e18-4032-9ae6-d2a0ef5667fa CLINVAR:9632 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4b0e07c-8c07-46fd-b831-ac416eb921c3 CLINVAR:9606 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acc9b9b1-6226-48c9-bb3c-008210c960ed CLINVAR:9606 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd5459a5-4cbb-40f9-b7be-1800ac5bc36a CLINVAR:689875 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6938b88-7065-4913-aa6b-82231d45402d CLINVAR:689875 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7df0471e-f67c-4d5b-aa0c-9472be73b49f CLINVAR:9556 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1570bce4-31e9-4434-9c5c-be35043f013d CLINVAR:9556 biolink:is_sequence_variant_of HGNC:7501 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72790895-bf6c-4d15-bcd6-425d3ab68b2f CLINVAR:223247 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f11473e-9f3b-48a3-a78d-978fae53e00d CLINVAR:223247 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5712ef21-6a34-4d62-9d48-abdb1b3b6f70 CLINVAR:9707 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6dbb70d-d213-4cd8-b144-a3232867aeb3 CLINVAR:9707 biolink:is_sequence_variant_of HGNC:7460 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f3f2d7b-e2e7-4914-a4c0-95af35820b93 CLINVAR:9591 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e09631fa-77c8-4d59-8092-6bc1538fd26a CLINVAR:9591 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d64b0f7-ba46-4dbb-9025-baa019a31c20 CLINVAR:102551 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a0788ea-ce18-4682-8546-cc32b17330fa CLINVAR:102551 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50debe63-c944-49c8-955b-2d1b0f4a6140 CLINVAR:102652 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2cbd64fa-21ce-4f2e-9628-4fa045167f56 CLINVAR:102652 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6407ac10-e0b8-449d-bd93-7b8d77bdf62b CLINVAR:102663 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb2ef2c4-da0d-454c-9413-0e61d4b1abd9 CLINVAR:102663 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46b7bcdc-9d65-4caa-9b0f-f82aacb9e32e CA16020977 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen abd562f6-16bb-425c-babc-41c5e83c1015 CA16020977 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e45dc38e-7770-4c15-a1b4-2b20e8d9b476 CLINVAR:102718 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14d58977-e248-4891-9279-1fd25592fbb9 CLINVAR:102718 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3a8a324-2563-42c2-a257-293095741a67 CLINVAR:102664 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b966d077-7c84-4a46-9528-0bdd303152fc CLINVAR:102664 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8913ec74-7a7b-415d-8348-accf12c102af CA386493311 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a49cf7b-b860-432a-9bb0-6976fe68cc6b CA386493311 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78bd1402-1338-4aa0-8d7e-b967f790b725 CLINVAR:657348 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4d3791a-7898-4503-a401-1bb6346a8691 CLINVAR:657348 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 366d18c2-f7a0-43c8-aec9-c36b77b5d9a1 CLINVAR:431990 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ba8fbbb-d4b4-4fe6-9697-32121596edb9 CLINVAR:431990 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2d0ebeb-74b4-4ba5-941a-4230b88c921c CLINVAR:92483 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c4b5a52-dc9c-4580-84f9-52c4e239de2e CLINVAR:92483 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3961054-9957-4392-bab6-770b65a6b0fd CLINVAR:498117 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c61888a0-b7c4-445c-a296-f4c905cedb7d CLINVAR:498117 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0ffdd74-3c8c-480a-af02-e15ef91eae06 CLINVAR:370130 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be5a45f0-5339-40ad-9888-d01d3b862202 CLINVAR:370130 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6536a84f-a149-435e-be25-a37259ec72a4 CLINVAR:933090 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28fc9df5-7464-445b-8d9f-3eba1a9627e9 CLINVAR:933090 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7539848e-530d-4a52-99d4-aed9f3debc5d CLINVAR:690461 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2f31fc6-b55a-4fbf-b61b-85e599ed3a0d CLINVAR:690461 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 401df2f7-b903-4340-a63f-d9b7f0218a38 CLINVAR:1722520 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f3b246c-a5f3-4f5d-8929-a5c9b84f0f3a CLINVAR:1722520 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3afc42db-eec5-4204-a714-1f978da66f1c CLINVAR:479636 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9544fcb5-c10a-405b-9860-b2eb4980749b CLINVAR:479636 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0772cda5-45ac-4095-96ea-87e92e009383 CLINVAR:429125 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9fcd4f65-a75b-4072-a399-cefb8a48c286 CLINVAR:429125 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7d38f4e-7ca9-4742-ad00-492c7944ce7f CLINVAR:824918 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 815b604b-e490-43ec-8bbf-f4d3bdd4cef0 CLINVAR:824918 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dce7d47-99f8-4146-80c1-29a8d87a9d86 CA390867498 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e31c1ee3-bd2c-4510-8454-b6d77090ef4d CA390867498 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a056c47-9a98-4fd9-a429-c26ee7b5dcde CLINVAR:1722522 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 686e680c-3e3c-4923-916a-4d47c1add993 CLINVAR:1722522 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 857de095-931b-44d8-b22f-171175fa3c84 CLINVAR:825925 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f323c40-1a2b-4567-b2f7-4bdf9e2ab9d0 CLINVAR:825925 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f33d6a-ea8b-48f1-99e9-423e47ba1077 CLINVAR:653922 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f463faca-f4a5-43cd-a171-796a206ff232 CLINVAR:653922 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 609b455c-c649-4c8c-bafb-31798b6c1339 CLINVAR:933126 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f19c63d6-b751-40d5-9c3b-f255ce24fd0d CLINVAR:933126 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85736ded-0f83-4c1b-8dd6-4a131814cf89 CLINVAR:825934 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89d56c39-e773-45bd-9af3-8a3dd3dbf0ec CLINVAR:825934 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a545c9f-507b-47a8-b865-21651fa4e324 CA343719476 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 376bc5d3-bce8-46f4-a7bb-a03bd1c95d1b CA343719476 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52f9c73-6bca-43a1-b1eb-d118e057a408 CA343727103 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4490851-9a56-4648-bec8-bc80b1712116 CA343727103 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2354ebc2-05b2-471b-9db8-6404041b146f CA1244333 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7013830b-89d1-419c-bcbe-8c33a60330c0 CA1244333 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14bd69b-fb27-4916-8953-cd4c4abe3342 CA1139770939 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec07691b-d1b3-4eec-8f07-ab7cfc451a9f CA1139770939 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 672f8932-a6bd-4fe4-84d1-e3a252c8fd35 CA32686006 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c43742b-2a83-4792-8d47-710d4885417f CA32686006 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56c8a658-599e-4f56-b656-5e146717a7a4 CA1244122 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5293d03-60d2-475d-afa7-848ea868e6ad CA1244122 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5a9990c-3fe1-48d9-acb2-566c4821293d CA1244196 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 382d9495-e15f-439f-a6d8-23808e49d5c5 CA1244196 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3481a796-c588-4829-8856-3e17164005ea CA343718087 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7cbda58-2a27-4aa6-bdb6-332baeda9c29 CA343718087 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2132ca95-dbf3-4c1d-8deb-53df7bb14fd8 CA343725043 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 579c21cf-b68a-440f-befc-35db5e0152a8 CA343725043 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48aeee7b-1489-490f-beef-af8c37986a10 CA343724711 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81f9afb9-eeb0-4bd2-b091-8ae375262f0e CA343724711 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd35a458-fd95-45c5-9bcc-99c50ee8d1a1 CA32685671 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7ffccce-c449-4db3-9de6-9d8c86f87a3e CA32685671 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5775527b-30e9-47d6-ae24-211db72ea9f3 CLINVAR:4036 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0e7b36e-1d17-4202-8c13-0683820fdeff CLINVAR:4036 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc74706b-dc88-46cf-b6a3-908a0b8ca406 CLINVAR:550327 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ecb115ae-c12a-445f-915c-c36cbad8ffcb CLINVAR:550327 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f231bb4-198b-4086-8f64-d3ce721c3b1e CLINVAR:526518 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 737891a4-fa40-4336-acc2-8d3f1d089662 CLINVAR:526518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62b6d39d-1d17-4a6a-baad-c3a8764a571e CLINVAR:289361 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38348d4c-e466-429a-b616-4a9d68e8dff9 CLINVAR:289361 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b73924fd-03a0-4f2e-a9c8-eb649308a7a4 CA915940949 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5a3ddb5-c049-4ce9-846b-3f246fdd18dd CA915940949 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a51e097-1f3c-4ed5-bfc2-005058485f06 CLINVAR:200100 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 09e8f7a6-efe7-443f-8cd9-6da0f45f0718 CLINVAR:200100 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c21167a4-8788-4211-8bb1-faca769a27d7 CA392317923 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5d9a541-7a8a-4826-acc0-77a9bd1ab731 CA392317923 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a30bb9c-e200-41b2-8e4e-0939cecea667 CLINVAR:200041 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5dd8b527-9238-479d-9b3d-dd1ffa0e5209 CLINVAR:200041 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d41d2cf4-8a22-4cea-b467-b492a24f3485 CLINVAR:1325453 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90c21bff-db48-4437-9629-52b63accb9ec CLINVAR:1325453 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06db03ba-9883-49ac-a2fc-b92bc2a98ca1 CA392325153 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0c6677d-58cd-4bd2-b9b8-afefadf16dc0 CA392325153 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 614a58b6-f831-4086-9774-f241b4a1f485 CLINVAR:549232 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8446508c-6482-4760-90f2-105d10c2132e CLINVAR:549232 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e05c002-248a-4798-a89c-6c27f793d2ba CA915940948 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen afa1afa1-5361-4454-8155-e7da4f3cc655 CA915940948 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41792a90-1a89-41f7-9232-3ef629eca205 CLINVAR:161245 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16e86d9f-dbaa-40b7-8f31-3105d8d4ded2 CLINVAR:161245 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d856661-ce73-43be-a3fd-25ca8e2bc2e6 CLINVAR:549394 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3b1479c-62fc-456a-93b2-e5d42067f6f8 CLINVAR:549394 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab32d9c9-070a-497a-8766-0bd8553797a6 CLINVAR:200064 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0dea44e5-4410-480e-9998-1646473bb51f CLINVAR:200064 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b26d9665-f5bd-411f-a242-0c3cbf82f193 CLINVAR:143490 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de5f8dcb-1872-49ce-847e-35c8ddfcc5dd CLINVAR:143490 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11bb32e-1a4f-42a0-8061-101569b1315d CLINVAR:143549 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a5934d3-69be-459a-a30a-66238db14418 CLINVAR:143549 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ef99fe-e55f-4ec1-a1f4-c6f78da29f43 CLINVAR:143550 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2bc6a994-2490-4340-bbf9-f6d02c12312d CLINVAR:143550 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54106221-1957-4ed8-bd0a-3d6276e5ce88 CLINVAR:143560 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b0011ac-7125-4973-8751-60c74168d264 CLINVAR:143560 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb487faa-9761-4aa5-9146-ae3ff4bd8ea7 CLINVAR:143585 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea5dd654-4dae-4c0c-8939-5945c949c9b1 CLINVAR:143585 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7e65fad-ef8d-4465-be15-5715744f3e97 CLINVAR:143589 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d8625ae-16b6-490e-b073-417e79ebd521 CLINVAR:143589 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9419449d-3613-4da7-8958-8918b1002f4d CLINVAR:143742 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1625282f-8674-45fb-b54c-1afb6812c6e0 CLINVAR:143742 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db6c3c9d-c508-412f-8a10-6aa9ff1943fd CLINVAR:143340 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99f41e5c-a306-45cd-85a5-cd7580bd24c9 CLINVAR:143340 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e65fad1d-a573-476a-9984-6b115ebd9d70 CLINVAR:143450 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1611aaa2-a731-460a-bf45-dd5e194039cd CLINVAR:143450 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 321e4826-d294-4455-b223-61e007290484 CLINVAR:143656 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e7cd818-9b38-415a-a37c-b9cd5a1b0344 CLINVAR:143656 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf4ec9de-1a66-406d-acbe-3e549c37ee2c CLINVAR:189732 biolink:associated_with_increased_likelihood_of MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ea78d3c-50b3-416d-83c6-b05c6b841548 CLINVAR:189732 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8b62b52-092e-4220-afaa-61a20374d6fb CLINVAR:189754 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3dcd383c-0693-4d64-b329-16bb6a607cd1 CLINVAR:189754 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0e49419-a15a-4f98-ba07-e2f01c5d8634 CA399802454 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 031e954f-1cf2-4362-b494-57435a53a970 CA399802454 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f893337-8070-4a31-afc7-3173054f03b9 CA915940214 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb8bc509-3dbb-447b-97aa-f785efc9bf0d CA915940214 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5c03bae-6111-48f4-8cf0-0226ece60bc8 CLINVAR:1684418 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5b879ef-5da3-4ee9-8d56-eed03366a2f1 CLINVAR:1684418 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4247aca-d2ef-400d-ac48-f428eeb6761f CA915940264 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f261174-643c-421f-b5eb-2452c3e06f14 CA915940264 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8068a6b3-73d5-4d1c-922f-71795abe693a CA915940225 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c0c1d70-dfe7-44fa-90e4-41c578ddb03e CA915940225 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b35a5446-ae12-4d80-8c84-b24ec28a0602 CA915940263 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03ceb828-511c-4189-a4b5-5dc13f289fce CA915940263 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c52d1d5-ee1f-4421-98b8-7368eaa330c5 CA400021997 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1216834c-9777-411a-b905-f18013cd727a CA400021997 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 829e49bd-46b8-4be9-bf37-0b3fa1200b85 CA399805008 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 598990e8-cd7d-4fb9-8570-16a3fd7e7177 CA399805008 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 218378a8-88b3-4541-b98a-fb21e6232260 CA400028386 biolink:genetically_associated_with MONDO:0010119 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a784fb55-e93b-4c8f-b791-133370329b51 CA400028386 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06178d20-2e62-45be-a42a-29e74d1aff57 CA8603099 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1cd92748-1093-420b-ac9f-69c3d4df08e7 CA8603099 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eea6020a-6562-4d56-be69-fe3853f03878 CLINVAR:13563 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29af7b4c-ef23-40c9-95e0-2ed78d937aea CLINVAR:13563 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5723a291-21af-4670-9e31-1888c9ad5fff CA915940805 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52bc2e3e-eff0-4651-bab7-1f0138a00597 CA915940805 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17fb35ba-9bfc-4c5c-8322-73394fb30f83 CA915940766 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf03e86b-9172-4fc8-8f13-fc51d0f358ce CA915940766 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ca9df3-0dcf-4fb2-bb74-df64c480a3c4 CA915940767 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dbf19d1e-1fdc-47c4-bdf0-a6065cc476c3 CA915940767 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad836474-af2e-4407-ab81-a57a89abcb05 CA399804480 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7e54b61-aa2d-4bd1-9df9-58aa4b8d465f CA399804480 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0323628-0fe8-4a43-84b7-3769931cff28 CA915940267 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba1369d5-307d-424c-80b1-72563e98aac7 CA915940267 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a7c902a-0df5-4c37-b423-c297bfe78e11 CA399798192 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1e5e47ba-eb18-4e8a-96e0-c3d8d7e87887 CA399798192 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2600849e-4190-40cc-a914-35f432886588 CA399807023 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89631ba9-f612-4edc-a713-5edce1107851 CA399807023 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c939341-dbcc-49c3-a831-57845c0ab5c3 CA291225782 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 910478b5-40a8-4491-8a5d-8d59b7e6a008 CA291225782 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f2466a8-c2f1-4093-b1ac-c4b37431f4e0 CA915940325 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aace5e8f-a917-4961-95ae-1195d1151915 CA915940325 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d898be52-8681-41d6-b616-ab63397d1d7d CA291224896 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fabe2595-8107-4fa7-97cf-c0cfdd5f0b97 CA291224896 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 129dc976-59e2-4dd8-a4aa-073d45894720 CA291227621 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e941f83-2100-4fd1-945e-50fa8e88a0fa CA291227621 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cedde67-cece-4f0b-94c1-adf6c574d272 CA400031679 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb23fac5-1e9b-493f-a311-e990d09c10c7 CA400031679 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59abc648-3a00-443f-a5bd-acdef55e74f4 CA915940322 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d7c2b5e6-efda-4b51-b08e-f333728188e6 CA915940322 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e380d7eb-eb5e-45dd-a7b4-054e177af052 CA399806223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9dcf96fc-46a8-4661-93b4-d9cb5a373376 CA399806223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccbe15c9-b2a3-4861-87ec-9e451bd7a5e4 CLINVAR:1879046 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eee650ae-e21d-4d66-9808-84f28547507c CLINVAR:1879046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab15a946-5682-46f4-96f8-687f381b69b3 CLINVAR:1879048 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd0e9007-33a7-47a6-90f5-41f20fcec69d CLINVAR:1879048 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cf70ae1-aad8-4677-85d7-f5ad90354a93 CA400031593 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e036cd5f-1d4a-4a6a-b435-ffcadbd0c629 CA400031593 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74507bda-657a-48f0-89de-77b47e0ebb5d CA399787972 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7fae987a-13ba-4929-a863-db67f70e3f43 CA399787972 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e97e9fa-52df-4e1e-9ac8-90d6e9a9afe0 CA915940334 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f41cef84-b752-4388-8088-3a9e78cc0d0a CA915940334 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f69b9a1b-9187-47ae-ae56-c83eb8694ae3 CA915940374 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 495922dd-630c-4386-8056-61396094018f CA915940374 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c48733-dcbe-4f4d-b688-c442bc2ed54a CA290950094 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c18de028-b2c1-4f64-80ef-93189f1f04c8 CA290950094 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 145cd630-44b3-4b6f-bd64-a8f383d41eab CLINVAR:627151 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84037681-4d72-4316-b397-ad7a6d86e0da CLINVAR:627151 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf82d4a5-b428-4f32-b857-0660a1e43ec8 CA8603454 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b6a4c9e-5f6d-460a-b95e-7e376d99ce2e CA8603454 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 885ec390-68e0-4bae-adf8-b47241da92bd CA400029961 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b83fe894-9a53-4904-9d3e-7a79986e95a5 CA400029961 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a718ce0d-e52e-4fe0-a2dd-2192e9b1e19b CLINVAR:977126 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78caca23-72ed-4fd8-8fc2-68871f648e6d CLINVAR:977126 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7abefdef-0ffe-416d-a18d-c37c8549a763 CA915940788 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bfd1b0ca-c4bd-4042-b9f4-7832e8b77abf CA915940788 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bbf93d3-e514-4ae4-b357-673e064aa36d CA399807046 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2b3487fc-1a76-40b8-8067-b65fa03d1cd9 CA399807046 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ecff61f-c6cc-451b-8e20-7ff6bd4033f9 CA8603212 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 024535fc-05c4-463a-b068-e062d5bc5c74 CA8603212 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78079a61-d5c4-4ef6-a1d1-ff58a2a42183 CA915940720 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 299f3ae5-91fc-4301-a563-3f9c8b5cd347 CA915940720 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 629188c4-6e4a-41bb-91ea-a1d26dcdd90c CLINVAR:977131 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5ac0bc7-6374-4522-b812-954d9999c60b CLINVAR:977131 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30d242e4-3794-4c8a-98b6-0173ee118a29 CA400031690 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cadecbe-9499-478c-a817-2304346e0168 CA400031690 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65c032a7-183f-4526-bf9d-c44a4743f586 CA2573131753 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bcfbac5-6ed4-4985-bc36-2902a8fffc96 CA2573131753 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34bf1f6f-dad1-4283-877e-dea8ca363f30 CA400029341 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d93c0ba-ce0c-4739-9e88-5d9003b5b787 CA400029341 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b5d4315-656f-4b20-ada9-79e18b065549 CA399804316 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48100dd4-38c1-43d2-a324-597cec083e7a CA399804316 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 076a0b90-6b53-4b11-87df-fadbb96025cc CA2573131754 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ca17768-6659-4376-b510-b5fef58480d6 CA2573131754 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14b2819-b8f8-443c-919d-02c53a0d82d6 CA8603039 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f2511cf-85b7-4c00-bbe6-7fcccd5f2445 CA8603039 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57296f4-2abf-438b-8db1-92760747945e CA400032927 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ec5863a-3007-4686-b333-3a2dabaf55ff CA400032927 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ebb02c-4b8c-4400-ac67-b9ae065b3f6e CA915940806 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9440530e-ea5a-4560-8f47-bf3311bcf9c4 CA915940806 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 687f01e1-69c4-4114-ab56-378f397c0e4c CA915940801 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c502104-d5ca-495e-a639-d0c8d57b1daa CA915940801 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a3123c-2a64-4956-892d-f7881dad6ea0 CA399791378 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7afb89a9-84bf-49df-a626-f4f9db52251d CA399791378 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b6b47e-9f91-45b7-8960-b00ea41de9ab CA399804787 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 21f9df4d-6b4a-4214-953e-4ca902f67e75 CA399804787 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b27e60f6-868e-4e81-a4d1-47a8dfc13a53 CLINVAR:891157 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7fd9c3b-6f57-44d9-87ea-38b5745ecfa4 CLINVAR:891157 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b5f215-c5d5-42f5-b93f-bb109d09d6d5 CA915940222 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69715fe2-f871-4dcf-afe2-36e5a49548d5 CA915940222 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c663abcf-0d24-448a-9f05-21792e9e38e7 CA8623068 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eefc230a-7f7d-47aa-b99d-6b35abef9c4c CA8623068 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d563d5c-9488-4c78-ac5b-216c2997f5c4 CA8602667 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f7b0595-7b43-4b87-a1fb-48026ab9c1c3 CA8602667 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66d39063-8c06-4c24-aac7-9a1df1ab95f9 CA399802478 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9990a2e-7b73-479f-bf9b-824421a1896a CA399802478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1873eee1-9cd7-468f-899d-758d1ad62785 CA399794666 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ec16889c-9faa-4e0a-862d-c9fa4912571c CA399794666 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0da11c11-7619-4870-a16d-faca985e8e4a CA399805465 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41fff460-d9e8-41fd-8cc3-b057ff8ce4c1 CA399805465 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe06fd0e-4b57-4b15-ab0f-5e4ec07c5b05 CA399805884 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d299674-d642-4d72-a302-376418c29f18 CA399805884 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3ef76dc-cef0-4107-8041-7049ab8ea412 CA400024958 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce15e00c-44a8-495d-99c7-faac69cd5f3a CA400024958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c13dfb5-fb6f-42e7-a7f9-477bda0c6416 CA399806951 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8795648-6131-4aaa-b689-251c379c272d CA399806951 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35d33ce6-3557-41fc-beb1-8ae5cf1f637d CA915940223 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bf0be3e-2b62-4898-9d63-c73732bfa425 CA915940223 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fbb8f89-d6ef-41d9-a2aa-37813430668c CA399792888 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b861fc0-4549-4bcc-abdf-013c33e84395 CA399792888 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23e8af35-00d9-4049-b079-152d395c659b CA400028645 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c7b8e5a-62c9-409f-a78d-f08776ea6dd6 CA400028645 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4f1a6fb-0142-4bc3-b239-9059ad89d61b CA399802559 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 22e39d4d-9562-4326-aa0c-46df8a7d3655 CA399802559 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 880de537-6a7f-4363-a72d-a670f5c0c4a5 CLINVAR:100811 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4e19497a-9c6f-400d-b001-b18846773fa9 CLINVAR:100811 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1bfef96-b4de-47d6-8bdd-674fd6c190b9 CA400029664 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9599d45c-a478-4ffe-9ac9-2f98b0f74a09 CA400029664 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b34b255-535e-40fc-9b4f-9306839e0048 CA8622982 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3f085412-8c7f-4e3c-82cd-79bee6b9aef4 CA8622982 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef604755-6516-4e31-af3c-796aeed2864e CLINVAR:225919 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de4b32a1-8325-4fa1-ac68-4005fed4c477 CLINVAR:225919 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff6c54d8-bd44-48bf-b6bf-2bf8a6ef4312 CA6748745 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 240d4834-679a-4c73-92d4-0334bb9b4984 CA6748745 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 481207e0-f5b8-4881-9a88-f795a58798ee CA386299735 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3f54ba4f-bb93-45e2-a45f-c0ef457df91a CA386299735 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9cccf718-b621-418d-8da1-7d237fccdee4 CA386297078 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d27c25c4-28e9-4692-8f53-42949184815d CA386297078 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92187f72-986b-4fe7-8473-aeb56a48f1b5 CA386492906 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2af4f060-a77a-409d-863e-972517904ade CA386492906 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0522781b-dfb0-4114-b040-a431218ec0e0 CA16020960 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6e8b244-8b68-4e8c-83f4-7966e3a41032 CA16020960 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81e92088-9a20-46ef-8735-9e3ec5d6ae13 CLINVAR:102564 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0a0565b6-43b5-42dc-92cb-67990e0cb830 CLINVAR:102564 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d560cd17-99b9-4fc9-9378-94a08f366198 CLINVAR:102653 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b911616e-0130-4e85-b7e1-90b6dd8ad670 CLINVAR:102653 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679b5677-6689-43ed-a603-5806d099ea24 CLINVAR:102574 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d7a7e1f1-0b86-4a4e-b1a2-46431a344307 CLINVAR:102574 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d97535a2-1a1f-4120-a268-ca7fbc9dd70f CA481331323 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 256a76eb-09c0-4f77-ba9c-04c4440cfa36 CA481331323 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07c95875-c4ea-4956-801a-1d1211cbe133 CLINVAR:102603 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a92dffc-8964-4a3f-a297-fa51be65d578 CLINVAR:102603 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6db80455-9c11-433b-af6d-453140a2c55f CLINVAR:102730 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4216e6d-e3e4-4c4e-ba91-77b4782d0039 CLINVAR:102730 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92ff561b-0bca-477b-9315-9f38006e8522 CLINVAR:417917 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5adc639-3231-4aaa-a015-66318c7759cd CLINVAR:417917 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef379dc8-26c1-4268-ac26-c1cf38a7eb26 CLINVAR:854401 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cba013af-2072-4f09-b350-9b4bf2700fea CLINVAR:854401 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec96d88c-5d56-44b7-8907-c380a4c22b8e CLINVAR:474895 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08bebd69-b1b0-46ea-9386-904ebbd08753 CLINVAR:474895 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 168a5891-f69f-40d1-8f67-d8d747fe8fa5 CLINVAR:971356 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1783379-f43a-43e8-a5ec-089029db7285 CLINVAR:971356 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3308d7cc-58e1-410e-9dcf-e143f31ea8c5 CLINVAR:555644 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78307aec-9787-4a83-83b3-108a509a4727 CLINVAR:555644 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e3750a7-7568-4d13-9d44-0b3b0b920dc4 CLINVAR:661308 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7805ca03-ab1b-4066-a370-258ca7da6c6d CLINVAR:661308 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5d851dc-7ef1-435c-9b6b-b948b34767e3 CLINVAR:1632 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d84bc2c-f467-4aeb-bd66-04683c118864 CLINVAR:1632 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc7ca226-bb42-4a27-9652-06ce1a16d11d CLINVAR:203592 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5007807f-eb98-4645-b803-7551d33a6a65 CLINVAR:203592 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c47db9-bf4e-431e-ad40-982d99b3e0f7 CLINVAR:839947 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4514999d-8c7d-4a6e-92c9-e83eee431f31 CLINVAR:839947 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6677b1ee-01ce-4483-b8b1-5adab274c689 CLINVAR:92290 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edc6febb-2457-46df-8964-a0e02361e614 CLINVAR:92290 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97734425-7d30-4aab-811b-2cccac46d265 CLINVAR:21016 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 591c876d-0b3d-4b89-8770-80219da1e065 CLINVAR:21016 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15951624-23df-4484-9f84-7feb3f103ccc CLINVAR:1634 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0abc2875-7bc3-40d8-a521-599130933c37 CLINVAR:1634 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888d9626-def4-42e3-a306-b35584f19a66 CLINVAR:21019 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c6ad3be-b375-4488-8665-dfeeb88be191 CLINVAR:21019 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cd94d09-a311-4293-8d65-961cd30c9bdc CA1139532270 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bbac34f8-ab90-44d4-9fd4-d73fd0389d68 CA1139532270 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b32c555-36cd-4be1-b0b2-50b6bf4bfdf6 CLINVAR:166641 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d4d26aa-578e-4d3d-936f-957d37735d4f CLINVAR:166641 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4e07c3b-ef0e-44cb-b1d6-41af0772c03e CLINVAR:807359 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95fbf981-c42c-42ec-96d7-8012f3bcffde CLINVAR:807359 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3fb2a7c-9e7d-4f3b-a2ea-566122ef30cb CLINVAR:370717 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 065811f0-14fa-4245-ab6f-1f6ecf52ab0b CLINVAR:370717 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914830e5-500f-4d52-8bbd-c584ba3c5e0b CLINVAR:581080 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c61ff90-f01e-4e72-88cd-66aa18bd6ad3 CLINVAR:581080 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ccd512-65a2-4962-84fc-39fb0cabe172 CLINVAR:92283 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e461feae-2ddd-42b1-b323-462a69882a83 CLINVAR:92283 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31a69ff2-c273-4bb9-a49d-d7c8dfec2bec CA916084367 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b886f660-51ec-4ebe-a585-3b8a987ea66d CA916084367 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d10e198d-c0e2-44dc-b633-6738cd8952b5 CLINVAR:370770 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e38a4a60-8949-4f9d-babb-ce20007cdd9d CLINVAR:370770 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e867f38a-f310-45b8-8a03-74fd78e83d0f CLINVAR:166646 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd51afae-f78a-41f9-bd30-bde6a417c3ff CLINVAR:166646 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f436bed5-e996-4122-aeb8-76c127542d44 CLINVAR:932835 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee6f82e4-3914-41dd-b26d-aa6cdb36f956 CLINVAR:932835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1beeb62f-7351-4396-a820-0924b1180864 CLINVAR:557136 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c79c164a-ef8c-4774-9d8e-8af7ac017794 CLINVAR:557136 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 392732d1-8c45-47e0-9190-b933b90df62a CLINVAR:418698 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 868408e7-641e-45ef-b4d8-748b3c21ef05 CLINVAR:418698 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21656360-d324-4cbb-a103-8fd8b24d105a CLINVAR:1075156 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc1763b1-768a-4be0-b025-fa1cbc1e2841 CLINVAR:1075156 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6949e89e-a670-4ac8-b2b8-560a0bd2e8af CLINVAR:1622 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 30cdd474-390f-4563-8eb7-9c3db24a22f6 CLINVAR:1622 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5fab4d-b727-4334-b5e2-1737a030ac6b CLINVAR:932851 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 323872cc-2aa2-415c-acfd-d73b452bfdb0 CLINVAR:932851 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1347f35-05f6-4836-9997-46ab53bf57ca CLINVAR:810875 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8b37822-010b-40fe-9250-e0ea8b93c611 CLINVAR:810875 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aecd8171-0083-4313-b64f-edc738b71723 CLINVAR:812785 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec32050a-b621-43c5-af63-2ae7e96df12f CLINVAR:812785 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcd08ad8-370e-4628-9748-c5906e957b1e CLINVAR:203595 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f97dea00-ef60-435e-95a2-278f836c5a96 CLINVAR:203595 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9b513e0-e93f-4f11-a8b1-abb6b5eff53f CLINVAR:932788 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 317678ed-a52a-4ddf-b646-2222b503094a CLINVAR:932788 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cfb0d3f-4267-4a9c-a49d-92dbfaf014fe CLINVAR:439361 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0890ebd-e530-47ba-942a-aafa64d8b172 CLINVAR:439361 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cc91463-03be-4b8b-8724-303877e154c8 CLINVAR:1073505 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5616311a-3639-4573-99c2-aacecdb19420 CLINVAR:1073505 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d381be55-d8be-450f-8fd5-b11b7df4c332 CLINVAR:876022 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 361b1b21-72cb-42d3-a320-25b986052004 CLINVAR:876022 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60b1766e-fe68-401a-906b-d04c7fe6a576 CA1244128 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 037c91c7-db49-411d-ab89-0d966eba557f CA1244128 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ba0709f-2709-44ea-9447-5ab5031129ea CA1244127 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58262a02-6cab-4077-a98b-376efd833772 CA1244127 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f08348-9859-4476-9950-344c081c3b2f CA343718468 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b54b5484-e722-45a6-8a5d-afbea7aafab3 CA343718468 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99ab4ed1-babf-4296-931d-4554fe3838f2 CA343724789 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa5fd678-8376-4c3c-b678-857c7550e7fc CA343724789 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3b46afd-f0b8-4cab-a4db-bda84e933333 CLINVAR:1306862 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0cfd4249-925d-432c-ae59-7150cd663631 CLINVAR:1306862 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25f73d0a-f1ee-4c98-ac61-9bf4e3d67bfa CA343723649 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c7ae82f-4ffa-44c6-8446-cdfeae8753be CA343723649 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62b3fd42-b5ea-42ad-93aa-6aa1497bb161 CA343723635 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a12f0167-a325-41e6-85b8-347182787658 CA343723635 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cecd95ed-3992-4212-bd1c-1b3417769018 CA343723062 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af20ccc0-8fe9-40ed-848b-0e34e16cae5a CA343723062 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d8eb577-1b70-4bcc-a67b-4438c32893eb CA343726243 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43dac432-45c6-4474-9246-cd27fe466d24 CA343726243 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef2e6dad-1914-4ee3-8668-a328c7330af7 CLINVAR:1684936 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1a8115d-f801-415c-a3c6-f7d08fbe8b8c CLINVAR:1684936 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d246c01-6424-4429-812f-d2a7231882e6 CA32686185 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd69f404-39ae-4884-8296-cdf5041729f0 CA32686185 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a765700-11ec-4e99-bf59-02e222fae4f9 CA1244138 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a88c332e-79e1-4c93-9f11-7522e83b4ce3 CA1244138 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f3f3431-29ea-456c-8ac3-7d89e87a401a CA421938611 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60c545a3-07f1-42c1-82c9-ee11f5b3e589 CA421938611 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c55d7b8b-3d8b-47ee-9238-78648e401eae CA1244109 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b8f155d-e251-4a81-9337-d811a8a5a5c8 CA1244109 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebf9a8ed-74d8-467f-8bb9-cf9e9669076d CA343724974 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7a3130d-fdda-4509-92cf-9e2808318d12 CA343724974 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c4ab875-f167-4c43-8e9a-33c40cc61705 CLINVAR:7957 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7728f624-58bb-4ad5-93f5-1c187faa4329 CLINVAR:7957 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d74671de-3dd9-42f3-bf62-64fabb079943 CA1244062 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69ead2d9-393a-4bac-84e9-9080af1e2621 CA1244062 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bb9aaaa-0061-4de2-a9d4-98862a2c87e1 CLINVAR:1073342 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c9cb5d7-104c-4ef6-aa8f-132cd8585643 CLINVAR:1073342 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b0d54b5-98d1-493e-a5a7-d3fad88248d1 CLINVAR:1628 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d980d149-f63e-4ec1-bb21-ec39992afed4 CLINVAR:1628 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac39ea4b-6f7b-4144-af2f-c7a44587a14f CLINVAR:818026 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 28df4aa3-5344-49a7-acbf-537ac20ca9ca CLINVAR:818026 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f71bb95-9e92-4e3f-88d0-bec491b39872 CLINVAR:936835 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5521bb45-c02f-4ac4-b52b-bc4aea72773f CLINVAR:936835 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18ec7165-9727-4b09-bdec-d1df71ab58e0 CLINVAR:557078 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76fd303c-f3bd-49f5-a972-3e586cf220c0 CLINVAR:557078 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7596fb69-d676-4b72-aa23-ea12988d50aa CLINVAR:550315 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd056b1d-6fec-40df-9a30-ef9e0ab8f5ed CLINVAR:550315 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af4d3725-62ad-4bc8-b518-0f168bb7249a CLINVAR:380058 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd712c72-4c6f-497e-8f06-3d6e8144ce8e CLINVAR:380058 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c81751ab-62be-46ec-9ca9-07adc690fcaa CLINVAR:516249 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db0160ae-f922-4c5c-a5af-00652e00d57f CLINVAR:516249 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9a55abe-7251-49b2-8638-dc1d24e8a3bc CLINVAR:474901 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8158a7a3-8d29-4b55-9b91-16edecf4d476 CLINVAR:474901 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b54cefb4-c125-42e5-8c02-7ff22d7cea42 CLINVAR:203591 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 349dc1fb-127d-4e02-a169-2f37bbb4aa2b CLINVAR:203591 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07eebe51-b565-4753-87b1-a1e495daed0c CLINVAR:595610 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a9028c76-bcab-4fd4-acaf-fbd4482cc71d CLINVAR:595610 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd500ffd-fcd2-4683-8593-ddec358deaef CLINVAR:194317 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen debab9b6-69e6-4d3c-9bed-94fb8e1d2e29 CLINVAR:194317 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d4fe4a7-d45f-4d10-ab16-c9d9baa93126 CLINVAR:429730 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen edbbea2d-26ff-4894-825f-b83b054cdefa CLINVAR:429730 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c90a455f-8eed-4e85-a588-74b1d8f49db1 CLINVAR:932833 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 563e1fb8-62da-4403-852f-09c3a449d9e3 CLINVAR:932833 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 750487d7-8156-448e-8afa-1c76f83e6bd3 CLINVAR:379145 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen faa6960c-ca84-443a-893c-8bec4127a9c7 CLINVAR:379145 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf0b268a-a1b3-4ac5-b9d7-f6e93659741a CLINVAR:4035 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d524defb-4136-43c9-bf19-9fcc2017a79a CLINVAR:4035 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4f0ca3f-e0c4-441d-9609-7aeca29cedc7 CLINVAR:972747 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29f1c6a1-afa7-490d-b1c0-01210159ffc5 CLINVAR:972747 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81bdea2e-ef40-47f5-96e7-b63b10ff78cd CLINVAR:198393 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c7d2908-db85-43a1-a896-1558cae26bec CLINVAR:198393 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be02c41b-427d-4adc-b160-a209456ab62d CLINVAR:930445 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c2a514d-9625-4ff1-ab7d-e3298ca19260 CLINVAR:930445 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 474560be-f4b9-4ec4-afa6-e37aa18d4934 CLINVAR:495664 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7015488-f4aa-4632-bbf9-43cc5b710b78 CLINVAR:495664 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0380f3d6-221c-41a1-8856-6fbf4b23544d CLINVAR:550825 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3940e09-71d7-4e15-b9bb-ca71d79fdb6a CLINVAR:550825 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23bb69fc-ec2f-4c3e-b5e7-27903b144c1f CLINVAR:283230 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb051d55-5294-4e21-b1d3-f776b20c912d CLINVAR:283230 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de709a22-9e9a-4a52-b877-9b1ef2d84259 CLINVAR:557811 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca4760b2-e8fe-40c2-83d0-b2638b2e5ec6 CLINVAR:557811 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82e4ce73-5e39-4784-aec0-4e7e1db83755 CLINVAR:1308288 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33abbf34-8b92-45cb-867d-a00c5d87fa8f CLINVAR:1308288 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bce9986-f61e-4bf3-ae3e-cbd8915d862e CLINVAR:597944 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b53b86ed-d1b6-477c-81e4-7b30a93f4fff CLINVAR:597944 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d16e568-3dbe-43ea-bca5-5d88062ddc77 CLINVAR:237861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32996222-4db1-49ae-8a64-e05989231263 CLINVAR:237861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9753182c-bdaa-452c-8093-0e8d0b79ea44 CLINVAR:251895 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35820f64-12fb-4b75-8b91-687237d960ea CLINVAR:251895 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03f879a1-d83b-435f-b5b5-4b6a6e29d794 CLINVAR:252294 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e54fe474-93f4-4f08-a5e2-4e0f81784fad CLINVAR:252294 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4d163cc-c07d-4658-89e9-2a6284980720 CLINVAR:252295 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e135bb43-8535-4319-a5a4-423d33157787 CLINVAR:252295 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad251422-f637-4196-b49e-bd83dd9062f6 CLINVAR:251138 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d32b67dd-dad9-4266-99fd-7135bd7f9e69 CLINVAR:251138 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 261ccbb2-7c96-4511-a6cc-4a3c8148eb6b CLINVAR:251876 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 498ad8c5-afd5-4adf-8d7d-d942b2e6986f CLINVAR:251876 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d71dad1-9753-458e-965a-f5160322eb83 CLINVAR:251808 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd266443-3968-489b-983a-f441aa438dbb CLINVAR:251808 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1ce221e-9377-48c4-b1c5-42ef23a4df17 CLINVAR:226382 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85fa3570-c3b5-4922-b8c9-453be1006cc7 CLINVAR:226382 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e3b53fa-10d5-4108-a615-115cf51a72a0 CLINVAR:183129 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05fd327b-c155-4f5e-b918-8ad9744028ef CLINVAR:183129 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca531b6d-ab9e-4718-b54d-a0f644581644 CLINVAR:927435 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 053bba32-ac34-4950-905b-34d027b8bff9 CLINVAR:927435 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 044cced2-7d42-4cbe-b2be-450aaebbc3bf CLINVAR:430743 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed167b72-96e2-479b-9bda-8f07d198d64e CLINVAR:252325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15718c14-273b-4f97-abef-28c3a82366b2 CLINVAR:252325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c26ef7c-9152-4b22-8c6c-2c470dc28621 CLINVAR:252110 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 706bcfcb-8216-4280-9640-97504c1faca3 CLINVAR:252110 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05523254-6b5c-4605-a323-b1a9b6e602d5 CLINVAR:252109 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 475f0850-a4f9-4bde-a497-0275acf6f8c9 CLINVAR:252109 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5268ff53-6ba1-44e0-964d-466b540b542e CLINVAR:438327 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7fe87f94-5636-495a-89b9-738d8beb6462 CLINVAR:438327 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f83279d5-166a-41f5-8794-af9c583683ce CLINVAR:250946 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5122cbe8-a29c-46fa-bbfe-38a69246adea CLINVAR:251097 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 589d021b-28c9-484e-9e2b-18e6c33feb6b CLINVAR:251097 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51142a68-9069-4b7f-b31a-bc9153daddb4 CLINVAR:252258 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7adf18b-eb0d-403a-819e-af0c0b952c32 CLINVAR:252258 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26960d7c-8204-4395-95c2-b523784bdfee CLINVAR:403628 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce78cd8b-f02a-48d9-8c26-e6ede4fba166 CLINVAR:250982 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9326f541-ef2b-4cac-9d6a-67714de16931 CLINVAR:250982 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f81c05c-fc2e-4ea2-bdc3-1f2595a11251 CLINVAR:919564 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8a14d25-594a-4de2-b3c0-2b5639e660b9 CLINVAR:919564 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2788e09e-22fc-4692-a4e1-445f069197e1 CLINVAR:252065 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f70d8ad-25d9-4f46-b0b4-d843c336ac28 CLINVAR:252065 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cd634fd-f059-4048-b78b-a8c832f68a8e CLINVAR:251040 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 510ad9cd-0325-4144-b393-0fe2aab7f314 CLINVAR:251040 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ef6fa0-26e3-474a-a946-c64544660e98 CLINVAR:523722 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6470421e-0fc7-47c2-adef-e76fb154db26 CLINVAR:523722 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86eed5b4-f0f4-4b9f-9817-ba480f9f40d2 CLINVAR:251087 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7569c369-744e-42e3-8622-e2685fb5b91a CLINVAR:251087 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4bd57b5-109e-4504-bbee-bbce484ccb56 CLINVAR:923296 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63bc9c4b-76e5-4af0-8ffc-88597c34f10b CLINVAR:923296 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 027b3c3f-fe69-40a0-9ca4-44375db4a834 CLINVAR:430774 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1491a336-c80b-44ec-be3c-b1f6181314cc CLINVAR:430774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6cdce5e-40e1-45a9-b202-0bab9be01afd CLINVAR:183115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6aff25cd-f7d6-46b1-a405-4b767b6c36bc CLINVAR:183115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 453b02f2-7cfc-4853-a5c5-333c0437f3bc CLINVAR:252022 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7bb582f-1ed9-4c13-8420-fa507498e559 CLINVAR:252022 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35073ce3-7480-42e0-a9db-6da551aba8ac CLINVAR:441222 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 311c8589-8618-4a7d-8a14-0da4effa3053 CLINVAR:441222 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b4aab62-5d20-40e2-a658-07719a288b5a CLINVAR:183125 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 989abf38-e5dd-4cff-a42d-d44b557e7e6f CLINVAR:183125 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52664dd1-71eb-4007-a6df-98b165505876 CLINVAR:252036 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45b95775-e5fc-47c8-8d86-f1ec416db004 CLINVAR:252036 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13447ecd-7012-46b8-b7d4-af27012dfdca CLINVAR:424578 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b27c08b2-9620-47c4-8ebb-6360ecca147b CLINVAR:424578 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc8ef1b2-77d1-47f5-afb3-7678e8991ba3 CLINVAR:456652 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9730e5f7-02d5-460c-985a-e9bbe7b66da8 CLINVAR:456652 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f478f67-f5d1-4781-a76c-1da3ce4f3f3f CLINVAR:252071 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 156d0772-5481-49a2-bd48-6f46e431c55b CLINVAR:252071 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a368cb4-6d34-4797-9437-0621f0c13a2c CLINVAR:251774 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2bc6214-0f6e-4fbd-8b0f-cba76fad4b0c CLINVAR:251774 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27a80413-c590-40b6-8271-026b0bae37e6 CLINVAR:251773 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a692bfcd-a4bd-478b-9a6a-8e75110cd19c CLINVAR:251773 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 291a6fba-cb95-4172-9c30-52616e6f2cc5 CLINVAR:251775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 215b4195-22b5-47d7-8a63-605e7885477c CLINVAR:251775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1172bc90-6dfd-4ae9-a5e9-d7b4408b9c29 CLINVAR:496018 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1dea27f8-c9b0-4183-99e0-e0b56d523632 CLINVAR:496018 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e0dd466-9f18-452c-9b97-b4865ef128f8 CLINVAR:251510 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 464ae47f-f3e2-4477-9694-4533b5460da3 CLINVAR:251510 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d67e6d3-a853-47bc-91d3-10d0603f7550 CLINVAR:430742 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f87c7e38-8b62-496c-a655-4fb08b8a7d92 CLINVAR:430742 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a388b32-0bde-4438-999f-d4a49189d5b9 CLINVAR:924646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11098499-8f21-4c9f-a500-2bfafa2cd2bc CLINVAR:924646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5575a36e-ba71-4391-8b9b-04d1b90fdd38 CLINVAR:251704 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86be5c0f-abe2-4cbe-8158-5e268e75e18f CLINVAR:251704 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c2ee2ab-d445-4dfc-9f9b-17496a85eef0 CLINVAR:870321 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73c5a6da-21b2-4841-9ca2-1987148b02f2 CLINVAR:870321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a1e4f3f-2c44-4167-b0f3-b39bee3936db CLINVAR:440630 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 042d6859-76f6-4175-98ea-f9ba45450231 CLINVAR:440630 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aec80ae0-ce29-4d27-bff4-6ed66ddc1c38 CLINVAR:924165 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81f2d23e-bdba-4dcd-9a84-b4e071f1f6af CLINVAR:924165 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b2b566b-a268-4666-b82c-fc8d5a798850 CLINVAR:250949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87268ba8-b64a-459e-9639-5c376b96eb23 CLINVAR:250952 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f44ec390-3d08-46bc-9369-6719e8430eff CLINVAR:250952 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99d2dc0d-a71e-456e-9a7f-7621a31e00c2 CLINVAR:430745 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a0ba9ad-a530-41ed-b150-827717b2b77f CLINVAR:430745 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0453507d-7563-4cd6-af0f-0644b5bb5619 CLINVAR:252046 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23e11381-2b10-4d80-8a2f-42ba654b97a3 CLINVAR:252046 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea940086-4940-4a6a-bca8-92e1a254d5c5 CLINVAR:226304 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3244c19c-7244-4ba1-9739-4bbf0180b7da CLINVAR:226304 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6678730a-b69e-4b57-8b0a-5cce2b9346d8 CLINVAR:183108 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3110427e-db00-45e0-a8e9-79a3655845b8 CLINVAR:183108 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 216f299c-9b03-41db-8240-701235d2cb06 CLINVAR:250971 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6cd8076f-b916-4b33-aeb5-25d3c5e12565 CLINVAR:250971 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 654fddf2-960a-43d4-bf2c-3900542fde3d CLINVAR:183094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 368c19bc-4727-4b4a-8edf-9e2bc692ad00 CLINVAR:183094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dff180c6-8274-4928-8523-af3e60239e1f CLINVAR:927149 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8261f72a-5612-4d56-bc28-30ad7a0283bd CLINVAR:927149 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd8b4140-7740-4474-ae33-62efbe1cbb14 CLINVAR:440602 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 796cc98d-63c8-4ecb-9a2f-b76199de6526 CLINVAR:440602 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcd84bda-1b41-467d-9f01-33da6cf77213 CLINVAR:251447 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05f35ffd-b3ec-413b-abdc-28d9f76a919e CLINVAR:251447 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f0b5d2-fbcb-4930-9a58-8e707583abdc CLINVAR:456412 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fd0e49b-592f-4db1-9577-64dc64a72d05 CLINVAR:456412 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f5a6cf2-5620-4fac-996b-5318a87eb6ed CLINVAR:143526 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7dd8cf9-dc23-4111-83de-e4a2407b76ea CLINVAR:143526 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f455887e-788b-4cbe-bd63-e36acf902279 CLINVAR:690207 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 040f3387-cf23-44cd-8e1b-4d06840216cf CLINVAR:690207 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff92fa4d-38fe-494a-8f23-7f476355ba0e CLINVAR:9586 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69d83067-5aa8-4964-8191-5ffbaf532121 CLINVAR:9586 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37f08bac-405a-47f4-888d-cbbaf33d36be CLINVAR:42226 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bc38dca-451f-4d97-949f-baf53cc70008 CLINVAR:42226 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cee00987-8792-41a4-adbf-b04dd727aa3d CLINVAR:689871 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81946a7b-f9d2-4d8b-a9b7-22c338c1f5cb CLINVAR:689871 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d9d40cc-df66-492c-ba19-ab3ddeb2b939 CLINVAR:9612 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bd30cc9-2299-4b97-9ac3-556ca6b9dd9e CLINVAR:9612 biolink:is_sequence_variant_of HGNC:7486 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b954b3-3fe4-4742-a311-620a2d63ec2e CLINVAR:9624 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e9d7fe9-9b48-4afb-93f1-43a322e8402b CLINVAR:9624 biolink:is_sequence_variant_of HGNC:7475 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10868273-11ed-4348-9efe-a6bc67ef0967 CA913170013 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 823133a7-0b84-4e39-b296-8482051fdefd CA913178900 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d20f3c8-9dbd-47c9-80e5-0cdd2fa4b94d CLINVAR:9566 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cb4c0a3d-af80-489c-b526-81ffd2d70128 CLINVAR:9566 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e626b96-603c-4bac-9a0e-37c646525b3d CLINVAR:932827 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8a149e2-2d2d-4bb5-935a-3b8cc6860ec6 CLINVAR:932827 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5dc10767-05d5-435f-a04e-7caa937fdb6c CLINVAR:935797 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f26aada7-fac6-4345-a97c-9c481ea976c4 CLINVAR:935797 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b6c34e1-aa96-4400-8d3a-389e77c60af7 CLINVAR:932845 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6efd0e22-fd28-49d7-a928-b3d12b1530ba CLINVAR:932845 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea11f1b7-f2fd-4c29-b625-33bf0b48b4e2 CLINVAR:690181 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b51d489f-7108-4310-9666-50f674606d79 CLINVAR:690181 biolink:is_sequence_variant_of HGNC:7491 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2aed9ea0-c44d-4456-8013-20a12106ed25 CLINVAR:689874 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4460acd9-93ba-4b36-8c34-e2e1e242e407 CLINVAR:689874 biolink:is_sequence_variant_of HGNC:7488 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41ecf4c2-e3f2-4b97-b92f-78165ff3904f CLINVAR:379889 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4408b6d-436b-4cd6-9059-f3245f5181e6 CLINVAR:379889 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 387a9fae-74f0-42f0-b45f-c2514563957e CLINVAR:225920 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 096365a9-8042-45ec-9554-ee5bb07123b5 CLINVAR:225920 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2160c609-8f19-4116-9efc-52f022fe32dd CLINVAR:225916 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94bc31cd-3711-48af-a08c-ece636ec2669 CLINVAR:225916 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713a66f6-937d-4a77-954e-55bedfde481a CLINVAR:225913 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ba63a45-1544-4ff6-a409-6131a3ac624c CLINVAR:225913 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97a62479-5b79-463b-85e3-82868dbe8183 CLINVAR:917494 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0ff8e8a-c272-4e65-96e8-76efd931f9b2 CLINVAR:917494 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f390a96-550f-40ac-a49c-2c7a05c8754b CLINVAR:917493 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d66ae29d-a47c-472c-b6a9-e65191950ae4 CLINVAR:917493 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0410b477-ca90-47f5-ba65-3009096cfa40 CLINVAR:225918 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d523153-8159-456a-ade3-fe3fe6d9aaab CLINVAR:225918 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1a468ed-c142-45ba-9cb5-fc13cf6ac5f1 CLINVAR:225915 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6056ff17-8d4d-4f39-be2f-d01390e7e2bf CLINVAR:225915 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67a1cf7c-7ab7-4eda-86be-9610f858e3bb CLINVAR:225914 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81f2e9c5-8e5a-4cb6-a87e-2c81d12d1e0e CLINVAR:225914 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dc324cb-57e3-4cc8-94f2-79fb15e4365f CLINVAR:1478699 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca48136a-7215-48d8-bd30-db82ee3ec140 CLINVAR:1478699 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d7efe50-d0e6-4fe1-b767-b387dc313838 CA392260686 biolink:causes MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dee08713-c8a4-43ce-8e91-6bc1133cd4a1 CA392260686 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f9f4550-f77d-4ae3-b97d-785affb79e3f CLINVAR:2446453 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5c097e64-e424-4d3b-902a-76f54e961ec9 CLINVAR:2446453 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a63517c6-12f8-4249-ba27-1e26a891b42a CLINVAR:556882 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fbf4921-326f-46c4-8db4-c5c60043f7f2 CLINVAR:556882 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0bbf8d7-6641-444c-8f97-961199c72564 CLINVAR:1487846 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3501b6a5-e7cb-48b5-ab0d-d5df934bd0dd CLINVAR:1487846 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d173fd14-8e09-4a69-b6ea-ec03915e859e CA1139532474 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c833f49-9b0b-4ad7-a802-e3f75e1d1e17 CA1139532474 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5025792-d63c-4aac-a6e5-a2627f55bfea CA269524632 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0df6f0e2-104c-43c1-a87b-31749941be3b CA269524632 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac83749a-67a2-4958-a703-54ba2ebeb411 CA2573320295 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f056a157-ffdc-41db-a071-1f69c04e8793 CA2573320295 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 071a71f6-e514-4f68-8a24-b7a8ca61842f CLINVAR:645957 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 349f258e-a5f8-4ae5-8eff-645795a98bc6 CLINVAR:645957 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 564ca04f-9266-4988-820f-91f7b763145f CLINVAR:429154 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6329d9e8-aa0f-428a-b04f-21c554a85652 CLINVAR:429154 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eba9bf1-691d-4ec8-ad7a-b10d4c347492 CLINVAR:644129 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3c87fdb-5f50-4d73-8851-654ace462cc5 CLINVAR:644129 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1c1e5e8-11e1-4aa4-b635-f7c0423e5cdc CLINVAR:483408 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce79540b-82fd-496d-8d68-a2555d7e95bc CLINVAR:483408 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70323c99-3383-4046-b45b-b219d9ac8f37 CLINVAR:825868 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee63356c-bc86-4277-98dd-950e4cad7ef3 CLINVAR:825868 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 806cc0c1-846a-47d1-b201-273dbf06918a CLINVAR:375463 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cad9508e-c88f-4ab1-be36-e0b4a32a9ae9 CLINVAR:375463 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8db8b0f-9c6f-437f-be02-587629feffad CLINVAR:866837 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 49a42235-ef07-4c7f-8898-683b34588991 CLINVAR:866837 biolink:is_sequence_variant_of HGNC:7606 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42496396-15e1-4b8d-a71b-4eb2fa6ca0fc CA913187307 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e7029ae-7d14-489b-8a2b-b7b6b3ff18e4 CA913187307 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f32f1f2-0a51-4819-9ff4-1dffa7da1269 CLINVAR:92289 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48c08d4e-d033-483b-971e-377df328b26f CLINVAR:92289 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18ec6bad-a6d6-4a3c-8cdd-075e0cac3e7f CLINVAR:474878 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ba2d849-1aaf-45cd-b71d-bda8faa3fc1c CLINVAR:474878 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5830a5b9-c7d9-4074-892c-a4ce2fd2d952 CLINVAR:941106 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 553dfc2b-66cf-40d9-bbe2-033138130c29 CLINVAR:941106 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4da973d1-2b51-40ac-8392-44b7438e97f8 CLINVAR:932838 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e41b72fd-7edc-4358-9dbe-aefeb882f164 CLINVAR:932838 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d81ed7-0218-46d3-8b38-9ad224a4682c CA343719989 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9927de37-24e7-48f7-9e8b-814df692b133 CA343719989 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f13028b-7240-4e2d-a202-02250977ecb9 CA421939411 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ab34813-2ab0-46cb-9b5e-3d3f912692b4 CA421939411 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f0547e-676e-44de-82b7-ca5e5c01e622 CA421939121 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39ffef6b-b5e5-46ac-a84b-a5a09a219985 CA421939121 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b591cb85-349f-47c3-b39a-2f1869ab1d94 CA421783387 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10dac72e-5162-410b-8c50-c60d7a34a415 CA421783387 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a67487-1906-4105-b942-44f11f386817 CA343726256 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9efa38ae-d5eb-40c0-8a2c-204df6a86ff4 CA343726256 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2de3f76a-adc7-4c42-92af-4300208ee66a CA343726232 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47aeb17b-8778-453b-a68d-3522654c0b15 CA343726232 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c43b3acb-f4a1-4fcd-8b94-f94b4bcbded0 CA343719729 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1315cdd1-208e-449a-8ac3-4e87a246b3ca CA343719729 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c7f218c-6c3c-481b-bb12-ecf30cf90619 CA1244313 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 538b6ea4-88e1-4e70-83d9-f7ddfe96a259 CA1244313 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd0a2729-78d9-4d6c-bd96-ab5978d2c276 CA421939567 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f0e404a-26e0-4c4b-a6e4-a8ee2246c672 CA421939567 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6224c252-23f8-4a5e-b061-b52b38032979 CA1139770890 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9200869a-1577-4fe0-8488-5d6f437a3706 CA1139770890 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6924c882-d77d-42bf-9b2e-a74b1eca58ec CA1244287 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6acaa5fa-c9a1-45c7-84ba-f52a81594815 CA1244287 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e4dd5b-a4a1-452c-94da-1c0e0f27099e CA343718023 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46dcc843-bbb7-4356-9ea9-1fc2d6348f7c CA343718023 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dbae19d-8038-42ed-a3eb-3c1981e28d30 CLINVAR:1313921 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0563b23-abfd-4e77-b975-9c8910478d2d CLINVAR:1313921 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14386432-26bc-4c7f-94d6-ad66d9749af6 CLINVAR:293716 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd7c072f-eb05-406f-9d79-9632634bf6a9 CLINVAR:293716 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce5aefa9-0500-4432-bc01-6f04086674a8 CA343725980 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e426bc6-52a6-4c10-9734-ccaa41e9e57e CA343725980 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2023c780-fcd7-4897-80c3-f7493e6001d0 CA527600366 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db9b893e-7599-495d-84b2-d9f2557622bb CA527600366 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64cf9125-f59c-494d-9fd4-8b0d233c28a1 CA421938925 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5964e3d-a72d-4a6b-8272-0b0072d97b44 CA421938925 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82539898-1bde-4105-8d1f-62a07ca4070a CA343725776 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f872fd4b-e970-463e-8e54-b577acd4dcd3 CA343725776 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6449f95d-9184-4adc-bc52-dbf267f8f782 CA343727113 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 891f450f-6f04-4eb2-b145-a8aae7669d39 CA343727113 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2093ad8-6bf3-496e-ab0a-58320a763aca CA343725270 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 476bb1d8-b080-4555-8b56-4d7c5b33b97f CA343725270 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba65820-0f08-448f-aaed-5c5483e5ce0f CA32685841 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de1a0841-ec49-437e-9b5e-7f047795f82a CA32685841 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75b2683b-2913-4360-b450-fa548f59ea0c CA343727064 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1dc57016-5701-4db9-805a-d05736912c04 CA343727064 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11c1b530-7f69-41e0-ad84-d19bd4e2bb12 CA343725124 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2fedb02-4590-4961-ac7e-9356f1a2778d CA343725124 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d99e2aa7-dc6f-45af-a44e-eca1373942b3 CA343726916 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01a9bfd4-472a-4715-af00-4e7aacd533e7 CA343726916 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de08d9a-bd0b-4c03-b3d7-06edc5cbcf71 CA1244093 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c667ba9b-b4c5-4030-9a6e-cc29b4c3f7d8 CA1244093 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e0b6879-a531-40df-a7ce-a152cc78868c CA343724604 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0485858e-d2cb-4209-b0cb-88bc5a349dca CA343724604 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91496e9c-318e-49f4-a3d7-dffcfc18e1c1 CA343724410 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5c742a1-e276-4401-904e-af2aab3d6ff9 CA343724410 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81315608-b72e-4277-93df-0ad66bec0563 CA32685503 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29337b0c-6ca3-46cc-a90e-8f6fa4ad4a82 CA32685503 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d150f1e-9df9-467a-b61c-9fbf089abe22 CA421938581 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f889d4f9-1746-49f3-a53b-ed4891513438 CA421938581 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05e254fe-2c56-4bf3-826f-d8f1a07d0654 CA343722900 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c54516c-3607-4d57-ac8e-657d0cf42a7b CA343722900 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e6653bd-7672-4e28-82e7-2162b69a7b5f CA343726248 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36cfeb83-fd66-4de5-aaf1-97d82aa9f2ad CA343726248 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13af4d93-9703-4e8a-9ca1-d369cc27f59d CA343725757 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b78947c9-ccbe-41fd-8e94-742c78b2f56d CA343725757 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 399ea0b7-42ed-4f3f-86e7-7c147a3f0d5c CA343725655 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7397effe-1139-43a9-98df-49ccb16f3aff CA343725655 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adbe3714-fae9-4e7e-9f15-cad3b8b7ea9f CA1244115 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3ffc68a-3ff5-44a7-876f-16804d7804aa CA1244115 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bd67ef2-973c-4181-af16-682187314782 CLINVAR:1439558 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4efc3e34-4c5b-4db7-8ac7-905b072b5166 CLINVAR:1439558 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3768df87-6b83-41d3-bac8-0ed37bf0e22f CA343724987 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2279894f-b4c5-4d12-bc09-3320005d53f4 CA343724987 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e83a101c-1c6c-4458-b996-e97f9678d593 CA343724596 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b7ab3a8-b545-4c89-b8fc-9765bdbf2827 CA343724596 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b6d3d91-be33-48cb-bccc-bc1190882e72 CA343724341 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9513ae0f-e141-4a82-a739-552e8211734d CA343724341 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9250bf8-f6dc-4065-861c-34289eedf317 CA343723835 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a5279c8f-4204-4abc-a135-dfe279671e08 CA343723835 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb697de9-ed57-415f-b9d8-060cebf18f31 CA1244048 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c369fc7-c0fc-4e56-9784-445df38dbfaf CA1244048 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 989f9b2f-e126-45d7-9532-3918163d26a0 CLINVAR:412160 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78f3f859-47e1-4da6-9c89-febc1ecd4c62 CLINVAR:412160 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f6cbc5-19a6-4912-9aec-bfcffcb7eaf3 CA8603502 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c8b2956d-04e0-4082-a7f2-0e6912a34003 CA8603502 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6222094c-1f2f-47f2-bfb6-9ad508436c8f CA8602740 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be275c6c-d830-4406-b74d-912ce7d6ab08 CA8602740 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83fe3f6d-9e8b-4fe0-b3cf-0c7e605d140d CA915940796 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6102f52-68b7-4f85-9796-c6eac13b3051 CA915940796 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7a10c14-74f0-41f6-9850-30523fe2f7bf CA400033003 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f256003-d0b6-410f-8264-cb5288243f13 CA400033003 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a97d12a1-2419-473c-9ed5-27ead9cb684a CLINVAR:890710 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ade51997-016e-4dd5-b8d6-ffaab75f50ec CLINVAR:890710 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d24b2236-4392-412a-8feb-665c5bea4935 CLINVAR:890713 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c06cd547-9d47-4ea8-a82f-746dad963f55 CLINVAR:890713 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b4645c7-c545-4e9d-aa8d-533b23d64049 CA8622991 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ffc67a8-fb92-4327-9ea4-d19aefb8f38b CA8622991 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ac30e80-facf-4d3b-92d5-a79bb098de1a CLINVAR:2498348 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e311115a-f595-4f74-a68f-da0db55072e3 CLINVAR:2498348 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85e0c905-8d1b-491a-ae10-c0fc37fb11a6 CA399790399 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 186e25de-ecdc-48b2-bc89-d48f9312b10e CA399790399 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8429ce6b-8611-471c-a3fb-d644c3240c64 CA400029436 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1748fa6-3c59-4c4d-9329-f46d9b8dda31 CA400029436 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3268629f-0be6-4b7d-8ffb-91de3d30c3ce CA400032606 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60002f7b-ec20-4a28-a5ae-dd02b6651a66 CA400032606 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b29b7ae-2e47-442b-853a-7959b921329b CLINVAR:9628 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b344e087-c78a-4647-9128-e96ff1f38aa2 CA915940266 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5187139-8021-442a-b17e-c77ec26784a0 CA915940266 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6d9911a-0397-4a80-93ca-e209b542367a CA915940809 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f4ad993-dcc5-4516-8162-4e5418f97327 CA915940809 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b341e6f1-b854-4b76-ae51-a6ef5821a7b4 CLINVAR:892353 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12b8442b-5cb8-4793-b4d8-5fc79439b514 CLINVAR:892353 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc13957f-9188-4e4e-872c-f8b375bb977e CA399805912 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca05f978-d562-4a46-8b04-e7576d292d03 CA399805912 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ead67f-0cd4-4de1-9c10-2eff4f5105cd CA400024376 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 642548e0-bd36-41f8-9744-ac324be9618e CA400024376 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71198f90-2291-458b-999e-49eb220dbef9 CLINVAR:143603 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 82310959-14bf-4976-9ff9-f33f204d3348 CLINVAR:143603 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2c21996-9fc8-45f7-a1c9-fd46439d7203 CLINVAR:324982 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afd7dab6-8c99-4795-984d-4fd3db915141 CLINVAR:324982 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8705790-7469-41a3-a5f4-7d924abac8a5 CLINVAR:371464 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 66514ab4-fade-4943-8c14-e4bcce8613aa CLINVAR:371464 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c29d6c5d-82a0-4292-8496-b211eeb2bff8 CLINVAR:555732 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38d94324-f2c8-4c86-86c9-b25c3ee08f33 CLINVAR:555732 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d41bae24-8afb-4cb6-8c40-e3cb03445486 CLINVAR:1676595 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8a98d71-d169-441d-a8cc-0ac0134dc77b CLINVAR:1676595 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cf2a945-4faa-483f-8452-f09616be9e65 CLINVAR:825824 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36650ccb-625f-4e67-9a3f-3c6cc5f578f2 CLINVAR:825824 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a25fbb97-e313-4d1b-b99a-85ea62c4f20d CLINVAR:543574 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43427c39-5a5e-4096-8bec-61be3c0ac259 CLINVAR:543574 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48538f80-60b5-4485-9408-4a78fd81701d CLINVAR:570456 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b694f628-3afe-42e8-991f-141ac61e79d3 CLINVAR:570456 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f51f4bc8-2ac8-4d71-a2f6-2ee763596b5f CLINVAR:1687567 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 620845cf-2bea-446a-87ac-caadddbcd7e1 CLINVAR:1687567 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ad80fb-8f4b-486f-824f-6dac4986bf35 CLINVAR:648917 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00bb6426-fcc0-4dab-9c72-c1a81362450d CLINVAR:648917 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca926d3-afd1-46a9-bdfc-4a44724cd1f3 CLINVAR:1067574 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25ad3fab-0620-4c23-b00b-db8513cf4014 CLINVAR:1067574 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35eedc66-0f5b-4deb-a8d1-9bcd6c8d0d74 CLINVAR:972790 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fbcd1921-aa52-4978-814d-068e715d335b CLINVAR:972790 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 581723c9-3dde-4062-8adc-5d15df7f0b5c CLINVAR:982297 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87fd8cdf-ac9c-407c-adb8-9753b8b3d282 CLINVAR:982297 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdcbde9c-7590-4c5a-b062-cc320b7e5860 CLINVAR:1037598 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e62a2af-1181-4d2d-8ece-023e4f255f6d CLINVAR:1037598 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbed0499-88a0-4e07-807d-7f9ed9cd7b3f CLINVAR:92465 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd4ea001-9efc-445b-926a-e1c192468c99 CLINVAR:92465 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d41887cb-c1dd-4131-b0fa-b2596228775d CA913184761 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0006514a-9894-4a47-bdf7-debc07429841 CA913184761 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 797a9b49-2113-4022-a748-ed3a732d5472 CLINVAR:1353052 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d61beeb-3ecb-4b3a-9dc2-44099cad37c8 CLINVAR:1353052 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ec3e0ac-bc42-48b5-9f18-de47d0f46d36 CLINVAR:11699 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de395bf1-5d7a-416c-afc6-b84104e1d0b0 CLINVAR:11699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cf0b71e-db7e-4c82-897e-1e8e760c0e5b CLINVAR:520792 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d394c6f-ffec-4e45-bdaa-8a1737532968 CLINVAR:520792 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdc7829d-88d1-4123-b202-728d350e6c7b CLINVAR:430374 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f88cf0c3-d56f-474b-b972-662cc707ea4a CLINVAR:430374 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 521cdaad-e9c1-4bc0-a808-0fccfbd54b96 CLINVAR:844968 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0788c92e-4714-4767-964a-b0f357427b14 CLINVAR:844968 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0310e0e5-df9b-4e92-854f-69dfecd271ac CLINVAR:916122 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 80ec8d5e-0c41-4c20-8ec2-167636b4c452 CLINVAR:916122 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8ccbb7b-3b02-4432-ab4c-a14898a8f317 CLINVAR:849693 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74e606ec-256c-47c1-9d77-198e8129ebb0 CLINVAR:849693 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00bc2061-2549-4444-9c70-f21643a9b5b5 CLINVAR:939992 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c4da589-5817-4191-9f98-5caf4f9689ca CLINVAR:939992 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a36829-6345-4d8a-b6f9-bdf21f974823 CLINVAR:205598 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76199b7a-4ae1-497e-a1c6-6b571ce1c6e9 CLINVAR:205598 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a2fd09-19ad-40bc-b38d-295344aa768f CA392254706 biolink:associated_with_increased_likelihood_of MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d110a440-18ef-4b27-8711-5e0c7df30ad6 CA392254706 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59b88dad-d587-4bb0-bf19-74cf35b659c8 CA415084325 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 92193b92-8c9f-4613-ad39-f18ab65d8923 CA415084325 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d05c9b3-ab22-47e2-b98d-0d0eb29b397a CLINVAR:1211026 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48bf7295-a320-4469-a4b3-93a525572cd9 CLINVAR:1211026 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59367b21-40a7-47f5-93c1-fc7da1588523 CA415079466 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24d9e80b-7f98-42ba-9595-ba6440afedfc CA415079466 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b5f08bf-06e7-4563-b339-c86f53395aa3 CA2573334474 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a532d5b1-0778-4ded-acca-c47fbb458f2b CA2573334474 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9acb6dd-d9a0-4d14-be5d-8ded2727c344 CLINVAR:2446447 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72edb9f5-7d95-4327-ac1b-2ddf21f2c57f CLINVAR:2446447 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c95593b6-f4c7-4519-b165-57aa76203fb1 CA2573334479 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e157f99c-e262-4a7c-a2ee-513b1fb0bd5e CA2573334479 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8fc6214-bdc5-4af6-b27c-f2658e114430 CLINVAR:392462 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3487f340-faa1-48d5-989d-c86aca9e0ad0 CLINVAR:392462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d434d7db-bf34-4f01-aea5-fa30158ece38 CLINVAR:689840 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75711644-be1f-475d-923e-4fa1cbd3f6a7 CLINVAR:689840 biolink:is_sequence_variant_of HGNC:7500 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4e4f684-99f0-41cd-bcad-ac8e482cec76 CLINVAR:9573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 434c3e8c-7592-48a5-b93b-863192993927 CLINVAR:9573 biolink:is_sequence_variant_of HGNC:7481 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa1a4133-8e83-46b0-810c-e55c8ad7cacb CLINVAR:689856 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58c45dee-1fc9-4e81-bff0-92e7727f0c8b CLINVAR:689856 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a45f1e5-7c15-4ce4-89e7-68b2ebfdf1b8 CLINVAR:9683 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0149d44b-b1b4-406f-ab2d-c34026ba7690 CLINVAR:9683 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca054d40-76c5-4716-87ab-ae34a5860d3c CLINVAR:628229 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0012a2e-edfd-4cf7-b750-daa75e874365 CLINVAR:628229 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8dad757-6aec-4ac1-a13c-01460d801688 CLINVAR:824698 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d92aaac-15d3-404c-95a2-86c5da2855bb CLINVAR:824698 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b7020a3-a09e-41a0-aca1-df35b23cb147 CLINVAR:217982 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 43dc5991-29d8-4588-abc9-298e4eefc351 CLINVAR:217982 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca9fe829-e704-4533-b1fb-bd73003e17a7 CLINVAR:804 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30198860-575b-4d6c-874c-dd319d8762d7 CLINVAR:804 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e12ad0a-a360-466d-993f-ee7e5889881a CLINVAR:411469 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 85a20d63-80e5-4e74-9d98-d895c0ab8b14 CLINVAR:411469 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40861266-0d73-4232-9ca6-21100539f71b CLINVAR:218000 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be3452b6-616e-481a-8943-29ced690186c CLINVAR:218000 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b1a0755-c3a5-4b32-8208-32f28c7df9d9 CLINVAR:827113 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d8f2417-eae3-4c87-b99d-b26453e59385 CLINVAR:827113 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 405eba9a-539f-4d82-b091-7832ed1fd804 CLINVAR:418007 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33b9ab92-c8ab-4e59-ba1d-974455297c25 CLINVAR:418007 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d9e94d1-2d4e-4d06-83f4-b25fd0538d37 CLINVAR:184999 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1a3c5fc-73e4-4fc8-8cde-45ee88154b6c CLINVAR:184999 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b22272bc-752f-4074-9d4f-97d6f609a6f8 CLINVAR:822187 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 757584a1-39a5-479f-a1be-4f76b4a2b0cb CLINVAR:822187 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaacd0f8-a0e7-4f53-9002-2d09fc6b06a5 CLINVAR:438864 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4153442e-8a95-4111-9c77-8be8592e7ed5 CLINVAR:438864 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b9030cd-dd55-4ab7-8c3a-37de7b8b631d CLINVAR:826 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ed721d5-c371-4b0d-a859-2c5d4d9701da CLINVAR:826 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e9b06b4-65da-4ea0-bbc5-bba5dde7a888 CLINVAR:230944 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf9d08f4-080e-44b2-88e5-7b48f9feb466 CLINVAR:230944 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca5304e8-476f-44c5-b748-efecddf566d3 CLINVAR:411555 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0ccb87d-3120-43e5-9ca9-bc412940ec09 CLINVAR:411555 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 617eb74a-2efc-487e-8b6f-8a29fb54e81a CLINVAR:649594 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72796da1-1410-4d21-9ff2-05cfe0b0aa8e CLINVAR:649594 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef793c91-2238-49ab-9ba7-5ad8f4d594e4 CLINVAR:490221 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e928e4e-4c6b-4bf0-912c-502b17961bc0 CLINVAR:490221 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a043b9f-ea4c-41d6-a348-a9e0a1769027 CA658760617 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c22184ad-ea68-4bfd-99fd-1cba7198feaa CA658760617 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be40f8c2-10e5-46b3-95f0-a98af1f53fc3 CLINVAR:419202 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1eb21a30-789d-42d9-99cf-93bdbe9471cc CLINVAR:419202 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aaebaf4-0403-432a-876f-fbdde8786447 CLINVAR:428167 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea2394ad-996b-4c59-8007-3af9e2262845 CLINVAR:428167 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5059cd4e-2e82-4579-b573-ca3038ac1429 CLINVAR:1393312 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 61194af4-34d1-4b32-a8a2-8ec5ec54a15c CLINVAR:1393312 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f561c19-052c-4e97-8b3a-b617296bb1e7 CLINVAR:428186 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4eb5aa2f-74e8-44a0-97fc-23013ba3a122 CLINVAR:428186 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0549ec7d-614d-492e-8798-539365f1ffcd CLINVAR:469904 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 08a89aae-78cf-4114-bb0d-40012123d988 CLINVAR:469904 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03ee13c2-a288-4848-9804-ac5707a19d05 CLINVAR:233215 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9aa2e503-88b9-47e7-b3bc-67d862530744 CLINVAR:233215 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14510141-6f18-434b-9461-270c7650efe9 CLINVAR:862543 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 385674da-a1a8-4f0c-9b65-ed231355c6d2 CLINVAR:862543 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fa1520e-d9c2-4485-8924-1407f7808503 CLINVAR:816 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52a880d5-8e72-4817-bb53-e80ea014c2ee CLINVAR:816 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f65cdf13-d383-45e8-8dff-4c3ee52a2adb CLINVAR:140839 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e48f156f-071f-40f9-abfc-7c24e84a106c CLINVAR:140839 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5451bbd5-00ae-4105-bc2e-8ed4b98fe540 CLINVAR:486786 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8be3efd-79f1-42be-937a-cee36b0c77c9 CLINVAR:486786 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5077b8e1-6757-46e1-8a1e-9d8d5a9d2689 CLINVAR:411472 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5623927c-e677-4930-bfd7-3f476da0dcab CLINVAR:411472 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ccc999a-a428-492d-a225-e2dd28398fc4 CLINVAR:371858 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b7b6f98-8772-4aa0-9fea-cb4b31166097 CLINVAR:371858 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ee492f4-92b4-428d-a2d7-9d3caa71544c CLINVAR:486740 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65364e92-3a58-4c0a-a6d0-22691a8a58c9 CLINVAR:486740 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717b8943-07f0-405e-b573-38ebc8b54254 CLINVAR:950642 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2cfb978-62dd-497c-aea7-83755cb0f26a CLINVAR:950642 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3998418-29c9-4b98-a1d7-b7e4fa895eea CLINVAR:537703 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88b7d11b-775d-4d6a-9159-a2d3f81a9052 CLINVAR:537703 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53db2336-fdf8-4c27-bdc5-97acf70dd03f CLINVAR:429040 biolink:causes MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b67683c6-0ed7-4c31-b45f-4b3b65a89db6 CLINVAR:429040 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen baae63fd-07ab-4c1f-8f93-1fc7820a4ea1 CLINVAR:642643 biolink:associated_with_increased_likelihood_of MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d81cbb79-786d-4a66-9c9b-a259830de0de CLINVAR:642643 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f3e117-c53b-400d-9490-4b7ec232212f CLINVAR:9618 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 196d5390-9744-49a1-9ab7-a0a9ab7d93b4 CLINVAR:9618 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b7dba1a-dc5d-4020-a978-914dfbc982f9 CLINVAR:9610 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3f778b0-fb8b-478f-8d31-4594c2963bcb CLINVAR:9610 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3db625ed-89ed-4593-82a3-515c42d1ed01 CLINVAR:9580 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac85c0c2-cd45-4738-91bb-a786b6881817 CLINVAR:9580 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e87466e8-d763-4143-be45-aac40b987cd7 CA913170089 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b6e435b-78b6-4443-8408-82441dfc51d6 CLINVAR:9616 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f899fa31-5840-481d-a4d0-60b52830af31 CLINVAR:9616 biolink:is_sequence_variant_of HGNC:7495 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a1d2d26-1cba-42e3-9b49-047640c70809 CLINVAR:9617 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9bd44eb0-5e57-4a53-86f2-5243116f93ae CLINVAR:9617 biolink:is_sequence_variant_of HGNC:7479 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b5072f-5c78-49e5-be89-6711e9629627 CLINVAR:102628 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 663281f0-2fbb-4e5a-bd38-b2f3c89afe2b CLINVAR:102628 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c0a1c75-fddb-4213-8f28-3f90e0fae142 CLINVAR:1460083 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b39ba8f-7a8e-47d7-9eca-0d246bb14559 CLINVAR:1460083 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fae5e89b-db1a-4c38-9646-00f38c0ef9f4 CA16020827 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7e249fd-68bf-4084-a739-148a32041ef3 CA16020827 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51a47397-b88d-4720-9ff8-a13e63f236ed CA913178210 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 758f0f89-89cf-4305-b018-963df84afab0 CA386304171 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90dad62f-bb85-4e3c-808c-e0ed77e034ba CA386304171 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f5cbe84-4342-487b-9be0-7fd384e2a3d0 CLINVAR:102746 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29883693-0341-469d-adb3-f14181ad24a8 CLINVAR:102746 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4c40751-fba2-4d2a-9a2d-86f0400a1d60 CLINVAR:576828 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a989e08-595c-420a-a021-b92c3d7f3a58 CLINVAR:576828 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d699ecad-4f71-4cb2-8079-12ce6a977a26 CA2497030226 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a96df8e6-bdf1-4e59-88a1-e36bd80a4419 CLINVAR:557365 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e0d9ec7-3674-4482-b5fd-f4bcceb430e0 CLINVAR:557365 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85d3ea1c-9307-4ca9-8ff6-4e110220a9fc CLINVAR:595611 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ba0d8c8d-6564-4883-b43e-b2d042a68479 CLINVAR:595611 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f43b7cb-a0be-40d4-94b6-001f1f9aee98 CLINVAR:102625 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92ce6f99-01cd-4e7c-98ec-397a26254ad5 CLINVAR:102625 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4d7ab0e-e32e-4aea-8569-fafec0c9ddac CLINVAR:9565 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 392ca298-6b0b-433b-8198-f9c8019abd4b CLINVAR:9565 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5036c73c-7a26-43f6-b54c-de58a264b420 CLINVAR:9581 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b1714df-8cdc-4038-84e8-017d53f8c3dc CLINVAR:9581 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7134d52c-ab55-4bfd-8c16-e10d24366261 CA8602771 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1393538-9b74-4bd0-9802-55c280b4f158 CA8602771 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8df0cfcc-436a-495c-87a2-2f45e45b2a51 CA8603038 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ef7f4093-52f7-4470-a6ab-2661a42c54c7 CA8603038 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59c7002c-c91d-48b0-8a5e-a71ee5b3004e CA626121071 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d02b97a-4d83-4b97-8205-6d68d0338cd5 CA626121071 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bc49f2a-6163-471b-b319-64245b92d4bf CA291224655 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1576b2c4-da19-4dcf-85ab-a15383ba0a29 CA291224655 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 577f5e62-b1aa-4099-ad91-af1df7352012 CA915940807 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f976f530-3911-41db-82b7-75baeaef6afa CA915940807 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55c38143-c5c5-40db-96d1-156d4ee0f1dc CA291224635 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 691d7b36-31e2-4624-803d-93ea752ea11d CA291224635 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6fe1a7-bf20-4b5d-adb8-aeb8efd0c634 CLINVAR:627094 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a37d3d9-dc94-40f6-af3c-ab109829bc10 CLINVAR:627094 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee147d9d-3629-47d9-b939-fa9ad68fd1bd CLINVAR:634433 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca875ff2-fe52-4e07-ab5f-1fa596a9b7e4 CLINVAR:634433 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8512b581-3a5d-4d07-af58-eb27bc22e26a CA16020822 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89abe15a-4687-46cc-bc5d-b5c5e5380770 CA16020822 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6926ad94-ad07-4960-a1c9-4da95bccf1ec CA409106289 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 726b52a8-fbd4-4fb8-b9af-5e4334b1d99c CA409106289 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9830a6b4-8e9a-4c69-82d2-572d943d42d1 CA409105438 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c21a6a0-af9e-4c0d-a3d4-b2c74b7e1df4 CA409105438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b345a9a-523f-4964-89ef-7617b6300a4a CA409104278 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9e694649-c41b-49d0-8202-cccc3f249532 CA409104278 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a3f745b-73f4-495c-b7cb-803a91836e50 CLINVAR:660424 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02d375ba-01df-4cb0-95e0-63580221c69c CLINVAR:660424 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b75b6496-99f9-42b4-8b29-2b23a1d78e07 CLINVAR:932842 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86ec4cc6-cf16-456c-8669-25e7ff16fef4 CLINVAR:932842 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c793cda5-705f-4b2c-b6c9-74f035d1b05e CLINVAR:932852 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1aa9b7f5-5e60-45b7-af6c-78705d95d8e8 CLINVAR:932852 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 004b6b19-1607-4570-99c7-c104512c78c3 CLINVAR:932834 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cce810f2-c24d-4655-aa75-8241d490f06a CLINVAR:932834 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61f6949f-ce3b-4e07-9b0d-952041c03564 CLINVAR:932176 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea88366a-6ce2-46ca-901b-c6d365bc891a CLINVAR:932176 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15f4e3ad-5ec3-4fb2-9c25-4ae8df6a1a3f CLINVAR:373427 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1ec4f46f-e539-4a09-b5ea-fdc4bd57cf29 CLINVAR:373427 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5cfd3f8-8b12-43ff-9c7f-b78383d56415 CA1139533037 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 678afee2-d177-481d-9003-6e57a6e17b7f CA1139533037 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7882b3-45f7-40ca-b019-b65f74e8b6d5 CLINVAR:618219 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f310691-888a-42b7-bfd2-06b5c038ac83 CLINVAR:618219 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0820bb65-b5fb-413a-b3e2-570a63fbefe2 CLINVAR:618216 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dff9d6db-35c9-479d-a370-fa66521a15d3 CLINVAR:618216 biolink:is_sequence_variant_of HGNC:7427 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fb32595-89a8-45d5-b6df-9d1e88304e1e CLINVAR:65513 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f4ba07ee-1e03-4d2a-be1a-8d301367d83a CLINVAR:65513 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbd6d497-ae4f-489d-9e97-425b13ebd884 CLINVAR:9694 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 424e70aa-2f7b-4ba3-93b8-470cf8e30aa6 CLINVAR:9694 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8a28bda-b2f4-4d07-886d-1b0387f497a3 CLINVAR:544251 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41270f23-eab3-46e0-9736-f11a52cac005 CLINVAR:544251 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a0c30cc-d8f2-453e-9ab4-09c4bd346726 CLINVAR:1402763 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb284a12-909c-47de-9414-77c4d43ed8b8 CLINVAR:1402763 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f68060ec-5476-4108-ac33-dc95e3956f6a CLINVAR:8305 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6dbf8555-250e-42f1-87f2-a35154b490d5 CLINVAR:8305 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d961c500-7785-4beb-8d66-317134305436 CA402998035 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3faeaa73-55bd-47ea-bb88-96be2cb6e7c3 CA402998035 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b6319cc-9ddc-4b9e-852e-a3902bc632e7 CA402998003 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e689ef2-5aea-4964-91ff-0d0ee9828c31 CA402998003 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abdb58ae-760a-47bb-8ec9-f7e8b59865af CA402997207 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 976c83d3-9dbf-4a7f-9709-415426ad50ce CA402997207 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c32f1efa-150a-4b9c-b5c8-15e4300609c1 CA402997017 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb208208-b50f-4d43-b8ab-a32b0a36e510 CA402997017 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f1e4799-b195-4c42-bd80-0b2f60c9df0f CA402995480 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ed7fac9-bde0-40ef-810d-f8c01928596c CA402995480 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b377a8b-d463-4804-b940-2d9b9080afaa CA402995388 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c30ab4b3-238d-4917-bc99-ca464553c30b CA402995388 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89e2f48a-7c74-45a0-a191-893942aa2a27 CA402995088 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4cbc0e91-8752-4556-85a3-de3a0639d0c4 CA402995088 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb03388-87c6-4b93-a33b-a32cdbca22af CLINVAR:1335317 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a04a5b52-b183-420a-8bb2-f24e85a77e93 CLINVAR:1335317 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a9d6874-ed73-43fe-83b7-b13e5bd0019f CLINVAR:1409758 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72ec125b-a4fb-462b-ae83-55074b356889 CLINVAR:1409758 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca6519fa-1c2f-43a9-8c04-7a2d524e9976 CLINVAR:1328978 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a2cbe72-8637-4cde-bd60-8abaf61f8a58 CLINVAR:1328978 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f38234c9-a793-4702-96f7-221521dc502f CLINVAR:9583 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen df2ff45c-31a6-4b22-9aaf-0e8bdec6c7a5 CLINVAR:9583 biolink:is_sequence_variant_of HGNC:7489 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f1b3234-6a43-49b1-8205-7fb1e0162743 CLINVAR:9622 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 604e8a57-72f0-445d-8a85-c2cce0d0825c CLINVAR:9622 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 678d21e9-8cf6-43e5-a911-b40e673244d7 CLINVAR:9620 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen aba7cd50-6bf9-4025-aa13-25c108e02fb5 CLINVAR:9620 biolink:is_sequence_variant_of HGNC:7493 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 032efe03-dfd2-4b1d-85d2-9630f77c0b3a CA913180249 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 804c7405-2fe7-47b5-8739-d6d161b74eb6 CLINVAR:9592 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b91b1dc3-ad0a-4fd7-b299-1d59d87fb029 CLINVAR:9592 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1d0eb93-a544-4ade-8cd9-193d778b5c6e CLINVAR:393097 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7805ecb4-ecfd-4472-b411-37a0cad17acb CLINVAR:393097 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed48c057-298b-492f-bd32-5cf433811d9b CLINVAR:440665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c103d75e-17a7-4231-83a8-178f99859ac4 CLINVAR:440665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac477bab-853e-4c31-8ba4-990b8bd24d0a CLINVAR:251094 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef4be5f3-5998-4e31-8f16-6ab5fbc2c764 CLINVAR:251094 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c0b914c-3e1c-4bc5-9443-74d06a333b36 CLINVAR:251095 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4106b74-70d5-4845-a3fc-c78f62a8d16e CLINVAR:251095 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0c9083a-08e8-45e7-9f74-25871826c604 CLINVAR:226310 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05818a22-f170-4b50-902a-9dd21b1c2de0 CLINVAR:226310 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fda9a67c-18ee-4d5f-b5f9-af6329c04c5e CLINVAR:440592 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a044c63d-1185-4a49-81f1-ff602adcdfcc CLINVAR:440592 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71f3503c-ac8a-45df-9d67-7ac4576f226a CLINVAR:189298 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1026dde2-88f9-4876-8082-8a1c34637eda CLINVAR:189298 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba565688-f3ec-4e26-b129-2143c9cc5951 CLINVAR:251805 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eef4ef8b-19a8-45dd-98a7-bc598356a32a CLINVAR:251805 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d1b82c1-9f16-447e-a628-7ebe0439bc5e CLINVAR:183128 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d60657be-4a18-496c-a32f-3122bb0f9a27 CLINVAR:183128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c46303e-4db1-4949-acf3-d87aff3741ce CLINVAR:252127 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b158522-a729-4547-8b94-d4459b4cc281 CLINVAR:252127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73c21a2d-9f35-4957-bf8a-11cdb5504514 CLINVAR:252128 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 844864ed-cef3-4216-ac76-1a9e0f8b03ed CLINVAR:252128 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfab3ac8-ceaa-43f7-954c-448c9579dc61 CLINVAR:251727 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd18abe6-a418-4c23-a9d6-2d1ae23a5938 CLINVAR:251727 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c3e0661-6490-48aa-a35e-a32474b462f5 CLINVAR:252306 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9a763f5-a69d-40ea-a38a-8634feb1eaec CLINVAR:252306 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cf1fa2a-14be-44e0-b0d1-ab29fb2b444d CLINVAR:252340 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce8bb72a-044d-48a9-a0d5-aa1dab21debc CLINVAR:252340 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd673550-b310-41ef-9c6f-0c0910309ae8 CLINVAR:252341 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 80a9204d-7b9d-4301-9c02-d9e42c234192 CLINVAR:252341 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483e6eab-2926-469d-a264-f7b70b83850f CLINVAR:161265 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65f4fca1-2484-4d7e-8834-be53049f2db9 CLINVAR:161265 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00bbc463-d9e8-4333-9082-11177cf3a058 CLINVAR:440701 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8219a69-3d98-45e5-824d-24d11d5dbeae CLINVAR:440701 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dff8b5d-82d9-4f50-a360-5c4c3a4abe3d CLINVAR:252141 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb1c5d7f-5f64-4ad5-bc10-d8bee44caeb5 CLINVAR:252141 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66a63abe-2026-4bb3-9832-23d9dd34ca24 CLINVAR:430757 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7407447c-f945-4188-af0c-85f0ce1bda7b CLINVAR:430757 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e313e40e-af54-4b7f-9fdf-7f37f7ee6dc4 CLINVAR:250942 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0027c631-035b-4a02-bab1-d5a6bd593812 CLINVAR:250942 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60ac3e45-01c9-4c95-b93c-97a62f319fec CLINVAR:440600 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97ca77bc-9500-4bea-8260-952a8a2b9c8e CLINVAR:440600 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47abc2a6-6bc6-4002-9a2b-8d26c43ece13 CLINVAR:431538 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1da35dfe-e18c-4bcb-880f-6986dce213db CLINVAR:431538 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7245e5ff-9265-4e8b-ac6b-764200b089cd CLINVAR:440670 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b7a17ae-3b34-4ac9-a4a3-27f971a774c8 CLINVAR:440670 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be0ce2e9-b3bd-42fa-828c-e0ef794da756 CLINVAR:251489 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c5cb62a-1f95-46ed-adeb-d389be80c956 CLINVAR:251489 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cf32f8b-370e-478c-b3be-cf0086922d2d CLINVAR:375809 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87e85598-a747-45e8-8b38-6ac9fa1c5f69 CLINVAR:375809 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b240ef66-1bf4-4d2b-8dae-00b4e8a5b4dd CLINVAR:251606 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 498664f9-cfbb-4abd-9405-bcbca4dbf266 CLINVAR:251606 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d8f4cab-65a1-4d2d-abe1-e2402375bd63 CA386493486 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8e1a1589-218c-440b-9247-7d6d4e41c1f3 CA386493486 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32c104b7-b310-48e9-b824-db2d4eaf7e19 CLINVAR:102810 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4955004-b706-4b28-84d4-658b6f320aae CLINVAR:102810 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af8e8eb2-ec0e-4356-a6b1-4ed8cc08755d CLINVAR:9563 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e359a49d-1ab7-4261-a825-e1e6a623644a CLINVAR:9688 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 370dbd68-431b-46e4-bb40-c68a897748f0 CLINVAR:9688 biolink:is_sequence_variant_of HGNC:7462 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8628a741-3139-46fe-886e-7bcce23774c7 CLINVAR:9570 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58f8b210-517a-4d1f-b6ae-d58c2c8c677e CLINVAR:9570 biolink:is_sequence_variant_of HGNC:7494 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78fe1658-5c1f-4727-b46c-680615bbf464 CLINVAR:9560 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0995013b-bcbb-42bf-ac66-23a7b3c328bb CLINVAR:9560 biolink:is_sequence_variant_of HGNC:7498 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d9920e6-0d07-463a-a2d7-9d255520fda8 CA421939061 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1dca24c9-414b-4d96-9ac3-4fe85d444251 CA421939061 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d0fc71f-61d5-4e52-97eb-3ba6ed1ef10d CA343725112 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e4b2daf-5dce-4716-a8e2-9366f821e397 CA343725112 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df1b5787-b077-47da-9e99-f17282e8a10d CA343724698 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b237d7c-787d-4274-bc74-1839a8b8d344 CA343724698 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de9822c2-d616-4987-8e28-931ae90c1a14 CA343724639 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 556f530c-3fa3-4544-ab6e-d5274857f5ed CA343724639 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7546915d-d9a8-430f-95a0-f0a9a7df6112 CA343724203 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c8851a4-6290-4105-acc3-b81a5722da11 CA343724203 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1253f6ad-5eb2-4559-af98-d929e4b82623 CA343724007 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86f490d6-8b64-4fbf-a18d-e9f7dce1f933 CA343724007 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c4c0b4f-fab8-426d-a0ec-3c8e708e0c45 CA1244044 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c38ff9d-60d6-42bb-a9b4-40c417194213 CA1244044 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e2a8978-b7f1-4c6b-90a5-1efb333597eb CA343723686 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5bd702e-e045-4ea5-a763-18068b5b2989 CA343723686 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70104cee-0ff5-4b65-b8bb-01ccd77b4180 CA1244037 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e9f3a0a-0809-425e-942b-e0e786b601ed CA1244037 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31195069-515a-48a8-b456-8038f6ac1a09 CA343723116 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecbfd30d-53a5-4d59-855b-101fee3c3434 CA343723116 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b88cd04-c478-476b-ab2d-c393b73a5112 CA343722865 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44595283-b82c-4d1b-8386-73d4d6e27d53 CA343722865 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 584552f1-72d8-4057-a4d3-9778bc4b0965 CA343718550 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d6f39f5-8859-4164-9986-b62d69534844 CA343718550 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdd4c1c1-fec4-449b-9547-eee27321e07f CLINVAR:293712 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2495cca5-7ed3-454b-928f-c34820e94e99 CLINVAR:293712 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66fcfe57-404d-4771-8da0-ab2826a243cd CLINVAR:133063 biolink:genetically_associated_with MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e47a1a9-ff9f-4db7-813f-9fe7f1decbd2 CLINVAR:133063 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04ae0f2d-4b27-4f41-bb15-8db31bac23da CLINVAR:133059 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07ca981f-4b3f-4d64-ba91-ba5c796e6459 CLINVAR:133059 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cc22595-fbe7-4158-8458-990ebacf8ad1 CLINVAR:133069 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7d69f3a-014b-4343-9cfe-266deef81ff9 CLINVAR:133069 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9047c9b4-7e02-4944-a5b3-b88af0e06ee9 CLINVAR:1213826 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e156d457-5b5b-4679-99ab-80b78793e63f CLINVAR:1213826 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f78ef1-7d68-4023-bc9d-44d7f7a239b9 CLINVAR:224402 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47767487-1ac5-492b-92ad-b52bc3983a0b CLINVAR:224402 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8369e05-536b-4d67-b8c3-bfe2037fd8a4 CLINVAR:1018682 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a8f4cb9-b44b-4dac-93df-90ec1885f141 CLINVAR:1018682 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a090d59-f153-4ddf-a6cf-d43c549c6ddb CLINVAR:141972 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab71f76b-496a-4790-9e3f-4a24b8f0ddff CLINVAR:141972 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef802515-5d8b-4763-a9a0-9caa30f0c3ad CLINVAR:830187 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 056aa2db-dfbe-43e8-aafe-5dd55c3e29bf CLINVAR:830187 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d753e73b-a9d1-47be-ad19-e7e805511107 CLINVAR:232594 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59dc1831-fc3b-4a3b-9134-372f4bf839fb CLINVAR:232594 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 528eb909-bb29-4d5b-8480-6b838b914124 CLINVAR:492220 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 253f1e05-3f40-4f52-ae54-b9a8f94ba310 CLINVAR:492220 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beeda74c-0278-49dd-ac8b-275306a7ad39 CLINVAR:944799 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53c59305-061c-49c8-9874-2b359b85be69 CLINVAR:944799 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da1a24ad-06db-46b6-bbc0-4e352870369b CLINVAR:580962 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40c89239-52f1-4899-af50-36fa74cd8bbc CLINVAR:580962 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 049607b6-5af1-4a0a-9cfe-ad8ff8b138f1 CLINVAR:241572 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65aca79c-b94d-49f7-87d5-bea0fff0ef56 CLINVAR:241572 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 869a0a45-5ff4-4814-9c1f-3cdd9a02ef1d CLINVAR:657328 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7a01465-dc2d-442e-b6e4-412d527893d3 CLINVAR:657328 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d436f0c-d89c-44c1-a338-1e928963956e CLINVAR:818335 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95a2608d-c13d-44f8-b78f-803a0bd20046 CLINVAR:818335 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 114e8d4c-bdf8-408a-81ba-290402532540 CLINVAR:185108 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de0e5581-b98c-4a50-8e51-3dcaee91060a CLINVAR:185108 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5212a3d-2efa-4a7d-950b-2f32ca83110a CLINVAR:126609 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c35b422-0b06-44bf-90a7-edde5c00ed34 CLINVAR:126609 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df851b81-1d30-4bbc-85f2-80a3e47e60f3 CLINVAR:482029 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb495f07-b0d1-406f-96c4-f3b90f92fa62 CLINVAR:482029 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bc75eeb-3a73-4eca-9ab9-4eabcb7b7911 CLINVAR:143966 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 456a9573-9e93-4414-b9f2-213744b3f225 CLINVAR:143966 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb20e2e-166a-47f4-a294-884efbc8b620 CLINVAR:186990 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 21b7c5a7-8a75-42af-a841-6dcdb15f7d53 CLINVAR:186990 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1021e82-1e64-4b44-86f8-75cf5a3a8e1d CLINVAR:126660 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f91b638-b9b9-4609-bbf5-404649f1ed61 CLINVAR:126660 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 958c0051-9ee7-47f1-91a7-70356108fd19 CA395121845 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64e4a5bf-0f46-440d-997e-53cb18fab397 CA395121845 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e1f2a6-6e67-4e01-be21-11af4e47c0c2 CA915941070 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c99626fa-a0e7-4cfe-84ed-60a9db67a242 CA915941070 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b110c5f0-4b53-4c94-a100-853e91421665 CLINVAR:187262 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2aae04c4-f05d-48e0-9d87-7d1c9f054c37 CLINVAR:187262 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ed5ffd6-eaeb-41cd-903a-f3a0ab93be74 CLINVAR:232977 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afb6d34d-6ef5-4874-a9d5-6a3720704e7a CLINVAR:232977 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aa91642-edb1-41d6-8296-884d37e48e0f CLINVAR:126711 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8eb58515-7e11-4e1a-9111-4e1a5573ab59 CLINVAR:126711 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fa644c4-7860-45af-b09e-4ac3f96641ee CLINVAR:126737 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4e3dcd7-7a89-40ae-8beb-5cce1f5d57df CLINVAR:126737 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf2af20d-f140-40ff-8231-bbbdf7e91b8d CLINVAR:126739 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47f64b4a-35db-4db1-a865-e34420f9202a CLINVAR:126739 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b406ca74-56ce-4d97-835a-aa3c0a2b436d CA915941064 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c20f351-af9e-403f-8293-420f932c5325 CA915941064 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08a683ea-3d39-4291-bee7-53a27d1ecbe7 CLINVAR:128144 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cb7f5ad-0e92-4bce-9edc-720a1b4daa4a CLINVAR:128144 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b38d8b99-0068-46fa-9e2a-e7e22c06beaa CLINVAR:186820 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d90e729-877d-4f46-82cd-27fb0d983e5b CLINVAR:186820 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db2ed28a-4513-4598-9748-91e6136aafb4 CLINVAR:461007 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 04d318d8-a3b8-4c8c-85a0-8d275aac8058 CLINVAR:461007 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 338e5ae4-c565-427d-91ef-02b2f15b596a CLINVAR:484222 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b2417b7-e8ca-437d-81dc-2b55488ac9fd CLINVAR:484222 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad72119-8340-4ee0-ac15-54789cd290b3 CLINVAR:241571 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1dcabf5-5207-4fbc-b323-0b4ea6156176 CLINVAR:241571 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14bc812b-583e-4a90-9a40-97384b82e7e5 CLINVAR:410148 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 889dfdd4-7d61-4009-8e93-0cb544ae0f60 CLINVAR:410148 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3e69388-c380-4b22-94cf-afbd202dad58 CLINVAR:480243 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 843ea9d2-dafe-450d-b14c-084d713e8f65 CLINVAR:480243 biolink:is_sequence_variant_of HGNC:26144 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9aa1da97-5cda-4b96-a1b9-c016340f5cd7 CA399789759 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a964796c-b707-4eb2-a044-d9f447b7f0c7 CA399789759 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82da333e-df8b-49ea-85b7-7f7056f497af CA399790478 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7a869e9-5f17-4c33-8f80-755cc46cf955 CA399790478 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce8b1596-b5e8-4dea-96e8-c5461f1e50c2 CA399805805 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d432fb1d-0b3c-42f3-9a44-890a5a826131 CA399805805 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f552b932-2361-49a2-8a73-73efd52656ce CLINVAR:374016 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78a124d8-89c1-419e-b90c-8d00cec4b297 CLINVAR:374016 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf3c1a2-b3a1-46a2-9270-873a623834ab CLINVAR:374015 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f4a8690-11bd-4d3d-b25d-3f0a0df12ce8 CLINVAR:374015 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b29fc87-2731-47d2-a6f6-eeb6615978b1 CA626379036 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f406140c-bc1b-4a2d-ac3b-b54aac8cf5e9 CA626379036 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9825dce9-7051-46ca-aad6-b184c173e1ea CA400028186 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63958c94-576d-4faf-8666-9578de1c38ba CA400028186 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d9e1344-94ed-4173-b809-2dc00821aaa8 CA8622972 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 50c1252b-57fe-4ad0-b4dc-15c09eca6917 CA8622972 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5dc547d-87ed-4f4c-8ba1-d31694a97e55 CA8622859 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0bb25206-67e0-487e-b219-ee051d7f6870 CA8622859 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9055dde5-64d2-42e6-8852-e2a5c8c6cd2f CA626684826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4719779b-00f9-41ee-b0e0-326f416a593a CA626684826 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28dcda0e-8faa-498f-950a-a5823b90c5fc CLINVAR:133058 biolink:genetically_associated_with MONDO:0018493 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88173697-3761-4e64-8796-abff8d2d8223 CLINVAR:133058 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91cea1e6-7e1c-48a7-b3c4-75b8d62863f6 CLINVAR:474888 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe81497d-a33a-4dff-8d83-9834dcd81010 CLINVAR:474888 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15a33774-066d-4a79-a8f9-2a538feacccc CA891834518 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a3022fac-b31e-41ed-bd0f-3a69f66e1e9a CA891834518 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0659fe9-3e45-4691-bd79-e6f57313fd61 CLINVAR:932828 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e15a3afa-a722-4481-acba-9a6e3600a5b1 CLINVAR:932828 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6be7b3cb-feb9-434b-95c5-f2918d0818c3 CLINVAR:252000 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67ab5077-92c9-4786-919a-2d17e40c8b93 CLINVAR:252000 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75769b51-1976-4e70-8500-d57b1c6e5609 CLINVAR:406163 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dbd8adf1-4dc9-405c-86b1-b63c3a201895 CLINVAR:406163 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02261656-49c4-497f-94ec-d069c09694b2 CLINVAR:226343 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ee51140-b34c-4934-a26e-2ec649325d33 CLINVAR:226343 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0249d30-03f1-4fca-b8c4-b029a62a60fd CLINVAR:689349 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49396e95-94fb-4fbc-8c1b-cd49793740de CLINVAR:689349 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3110c5a-7bd8-474a-9e70-58b143779b5c CLINVAR:440698 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c20410cc-e85e-4fdf-bfed-e989857327a0 CLINVAR:440698 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29f3591a-f3be-4f16-af79-7f5940632a67 CLINVAR:440697 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a4db17d2-5ff2-4f6a-b483-21c9c10ea973 CLINVAR:440697 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70896457-f9f8-431f-a847-bb5561852395 CLINVAR:252321 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8ad7240-ebdc-4eea-8771-5a9eaf32364f CLINVAR:252321 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38593079-b2df-4350-a409-5d894a138e0c CLINVAR:251850 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 276d0ded-83e2-416e-b80b-37a6d74ff6ce CLINVAR:251850 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb6bbc9f-7cbf-4dea-93da-6bc84efcab0a CLINVAR:440645 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa67c627-d701-41b0-b047-25192fb3a35d CLINVAR:440645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff48631f-5b6c-416f-82b3-22cf2e89a44c CLINVAR:251847 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1131fe7e-7523-486d-9d70-e7b9baee7438 CLINVAR:251847 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6850f920-32f5-4bac-9d18-1c82f37fd9eb CLINVAR:440646 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6398a81-113f-4fb0-a2b7-60351cc02d52 CLINVAR:440646 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db142aad-5225-4bca-a7b7-63b17ce4495b CLINVAR:430740 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2ecfa6a-5273-4844-9907-df80665d7409 CLINVAR:251649 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 791b1460-7cb4-4456-940d-5850c6c437ab CLINVAR:251649 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5e4534d-c55b-43fb-aa1d-5a3ca9c19e16 CLINVAR:431519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d044f944-1645-443c-ba9b-8434f98d2457 CLINVAR:431519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76398fe7-413f-4528-87a1-1ca16c89ea15 CLINVAR:251651 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e8e2ea1-e6db-4ed8-839c-3a77469f5ea7 CLINVAR:251651 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7a81344-8fff-4349-80ad-f09080c82af0 CLINVAR:431508 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 42f6119e-9b22-48bb-89fb-1370020e278e CLINVAR:431508 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 176f84f5-a740-4b6a-9e7f-f1323240bb9f CLINVAR:251127 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edb63717-203a-4da7-a258-631f326d8e18 CLINVAR:251127 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 957bdb0b-7b75-43bc-9dfe-c475c1dd5a93 CLINVAR:251537 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c04da9fc-088b-4610-9a21-2006804aef2f CLINVAR:251537 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 526d0647-85fc-41cf-9eee-c399e81fc215 CLINVAR:161280 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 960aed7d-189b-4ff5-9cc1-267284e3eab3 CLINVAR:161280 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59b80953-c097-4c7d-82ec-b61e56c25fa4 CLINVAR:251519 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 711edf6a-578b-49fb-918c-7ba2b2f4f779 CLINVAR:251519 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 717b420e-d856-4a2e-af5c-bc82012466c8 CLINVAR:1437514 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5621daea-3af2-420c-a0fd-7fd992412ea8 CLINVAR:1437514 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ff15e5c-0f82-4ef3-bc00-e1df46f66f7a CLINVAR:251521 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32d4138f-8f17-4077-be4d-9e3d417a60a7 CLINVAR:251521 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5a57e2c-c50c-4577-a8e8-70139f891a3e CLINVAR:251081 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75a3e016-9212-4359-a334-5324945082ac CLINVAR:251081 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a4e365c-8316-4cf8-a006-8be39f7f522e CLINVAR:1331775 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b940b66-f980-4b9a-9686-3ded01113729 CLINVAR:1331775 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afc33724-d6a9-498e-b516-a0a31ef18583 CLINVAR:251362 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ba8e706b-9712-4636-a7bb-c629b674721c CLINVAR:251362 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaedf0a1-aa41-46a3-bd49-b3e4aacae25a CLINVAR:440599 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 356da5cc-dccb-4fe5-8a7d-ccdaf1448689 CLINVAR:440599 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46d2387c-6c25-4b19-b447-1edfa5e2027f CLINVAR:417370 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8b07fb63-29ae-4fe3-a010-2731d54de83e CLINVAR:417370 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fbe2fa9-b06b-4bec-bdc7-8fe60b8ba6ff CLINVAR:369855 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8b1cc41-4973-4a3c-ab82-a31f96c6085f CLINVAR:369855 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ef3a895-bd5d-4200-be60-9f44e030c19c CLINVAR:431513 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 72b1271a-2b15-4e1b-81f1-1935f4f1ec49 CLINVAR:431513 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0e2bbec-e241-47b5-9b5e-23efd0db0fd2 CLINVAR:251223 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1af7f415-792d-42ac-8328-149a07577804 CLINVAR:251223 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ce90d8-d62c-40fe-9a73-903da786944a CLINVAR:183098 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1f2dd511-46fb-4194-a55e-5469d243817a CLINVAR:183098 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b758090-e3cc-41d6-8437-4689bebafcab CLINVAR:977996 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bba7ecdd-f42b-4402-987f-f558f8d5835f CLINVAR:977996 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30113f7a-7c17-4914-9af6-0f324a63c575 CLINVAR:977997 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9b45256-4e0c-42e4-803c-81dc92a23e73 CLINVAR:977997 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb3f2d64-9ad7-46eb-a301-eee5cf36a22c CLINVAR:1466547 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9db0ec42-22e4-4241-ac2c-3cf348244330 CLINVAR:1466547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 193a36ae-45bf-4535-a25a-b7b729d1fcab CLINVAR:431547 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33aa7940-c238-478e-bcca-b4604bbaee61 CLINVAR:431547 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba31e687-990e-451f-b89d-845475402a64 CLINVAR:251691 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1becaf5-8e36-4e22-b4e3-2daf0a735414 CLINVAR:251691 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f7e6fae-4408-4f01-a0ad-3dc4d302e203 CLINVAR:440626 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 025a53de-facc-4cba-9803-41de8c598692 CLINVAR:440626 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 778c5c63-cb9c-4a1d-a77a-4a88f9cac999 CLINVAR:251692 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00e60449-dd7e-446f-8020-1dbf8bf90a9b CLINVAR:251692 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67e78798-6712-4a50-9a39-9b2dfa296519 CLINVAR:252120 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67af8b47-ead7-46a6-a0f3-6326ee661f85 CLINVAR:252120 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12ec72f6-a04f-4460-9ec1-44488f5b2c12 CLINVAR:183106 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 008b6874-90e0-4791-8b1f-a651520781c9 CLINVAR:183106 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 150acfad-a0fc-45cf-9ec7-ba24e823bedd CLINVAR:440618 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 644e6946-2153-4d67-9371-c5c20d74e12f CLINVAR:440618 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92664b8-4fd2-47e5-b8fa-cefea51be3db CLINVAR:251605 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1777fc4b-3e61-4200-a379-4d309f963ed7 CLINVAR:251605 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b305528e-d10b-49fe-8499-cf1ddb235c97 CLINVAR:251406 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2e44128-2620-47b2-98eb-ca04d4d45bb8 CLINVAR:251406 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b85a3d3-4ed9-48da-a152-1c9409ec024c CLINVAR:440623 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4fce1b03-693d-43a2-b251-557148c17ef5 CLINVAR:440623 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e71994-4dd3-4a88-96bb-7eccec8dd1e8 CLINVAR:251645 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f166392d-b49a-4dc5-a66d-d8de071a3601 CLINVAR:251645 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3de38333-c218-41a6-bd90-0b711abc9172 CLINVAR:183114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e4861a6-75e2-4205-b821-168d7c99074f CLINVAR:183114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f5f922-3f95-4b90-803a-39f224db8787 CLINVAR:226332 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2d7fc7d-f0c2-411c-b3b2-d901aec6304f CLINVAR:226332 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d3efa05-6f92-4dbb-a300-05d337a646a1 CLINVAR:251735 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 339b7263-b694-4ba0-9926-4cdc5d629e0c CLINVAR:251735 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e243a648-c8fc-4043-9164-52643d1986ec CLINVAR:431523 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 515beab1-8375-4125-9a3c-9ca98ccad0bc CLINVAR:431523 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68060295-8bc5-49fb-97b6-3631977a7a17 CLINVAR:369861 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbe20517-7fb7-47d9-9828-3a325d7af1d8 CLINVAR:369861 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b2e8b0f-a6b3-4173-b228-1b9c8b863d3e CLINVAR:252033 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e629d254-dbaa-4741-a84a-f173d27c85b4 CLINVAR:252033 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6458e32f-d489-4744-a43e-915895888ba0 CLINVAR:252032 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 832b78c9-bb6b-49dd-9f3f-983aef11d758 CLINVAR:252032 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8ca31ed-d29b-4ea7-91ae-5bda91c300e1 CLINVAR:226402 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c1f6b6c-a80e-4262-8a77-80aa80bbb4d2 CLINVAR:226402 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88b93dca-a5a3-4e93-a74c-cf4529ee742e CLINVAR:251425 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c9ee946c-a8b8-4b78-8395-12d0a28dc6e2 CLINVAR:251425 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e097cfe1-cdd2-4b8a-93aa-cf24491c3341 CLINVAR:251121 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4861ea3e-9f76-44ae-aab0-f54a8d2f95e9 CLINVAR:251121 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1ffe061-67fd-4ef9-8ae3-9b5bcc6df9ea CLINVAR:251122 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bea51e87-8bd1-4506-aaa4-fdf2fbb05b4b CLINVAR:251122 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a61d7877-13bc-47ba-abeb-15de856831eb CLINVAR:440556 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b48a3c0c-0d5b-4621-ad3f-53d1a3178bd7 CLINVAR:440556 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd933fd1-761c-44db-a009-cdb8b8727919 CLINVAR:251583 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d7221af-1053-449e-b35a-7b70903cab64 CLINVAR:251583 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29238d1d-7563-460e-860f-b61ee7ba3af4 CLINVAR:918325 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f82d38df-b822-4965-8797-d12d7f108a9a CLINVAR:918325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bce20ccc-f926-45c2-b5f7-a50d186fb954 CLINVAR:403665 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 622f8a79-128a-4e83-a80f-f03b0521b592 CLINVAR:403665 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69f5131b-ac62-4549-a87b-8e378ab62f2d CLINVAR:36452 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e3507c7-d59e-4333-8ec6-648400f6557f CLINVAR:36452 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af854d08-ffc8-45bd-9c2f-5b2d9771e7a3 CLINVAR:183083 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ea7e1cd0-9374-41bd-b1e7-96483214a2f9 CLINVAR:183083 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7369545f-697c-4c6c-946b-d3c127a742b4 CLINVAR:251088 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 443106ea-e173-4cd8-81c9-0d056145df65 CLINVAR:251088 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50d93e66-4190-4303-93d2-31709d3be6f9 CLINVAR:924271 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4e735c9-68b0-478d-8389-ac4b0ff921db CLINVAR:924271 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1137ee06-369d-4689-aa40-2004cb89b6d8 CLINVAR:251828 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce72d448-6375-4969-a9d2-4cbd437d590f CLINVAR:251828 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1404fe89-f05b-4b9e-90d7-e94a73d760f2 CLINVAR:251894 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08b73dfb-7ff0-437e-8bdf-3e879fdc4036 CLINVAR:251894 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 693b1e39-3b8a-45b5-9c56-255b0357e022 CLINVAR:183105 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8927f947-88d2-4afb-8193-2995c8ed8c1b CLINVAR:183105 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be8e8356-66e5-4313-9709-a247036d3425 CLINVAR:926520 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e7a713e-3203-4825-8ce9-d3dd33777d1d CLINVAR:926520 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5541cd57-ead6-425b-af54-fa827cd344d3 CLINVAR:225181 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 142b9f4b-5d44-45bb-ad43-4ab41882a666 CLINVAR:225181 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5076350-2074-4715-8bea-c839b8a8869b CLINVAR:251587 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen db3f3338-b7f2-44ae-86f3-e3f71018dbf8 CLINVAR:251587 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d6a132b-1bca-4e28-a3f0-46a6586edd4f CLINVAR:226299 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8a3e86a-d3bd-46ba-b7aa-a8ff5b369b6f CLINVAR:1395739 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3d4dc7ec-f0ec-474c-ae20-57a9c770acae CLINVAR:1395739 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddaafacb-c8d9-4385-940c-4bf4fcb52585 CA343719449 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37ee6234-1f33-4801-a0a1-67fdc9c20cc4 CA343719449 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ed0454-5949-4bd6-be66-28263d7c219d CA343726991 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3b25eef-edcf-42bc-bad4-7cde88f58209 CA343726991 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ace61cc0-79d8-4a2e-ab5d-33195dda10ac CA343724686 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a68eed40-c759-47e8-a8cd-7b7da786a6c6 CA343724686 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13bb7d71-126e-4e9a-9c85-4c9618efdb03 CA343724606 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e444334-5e14-4227-9544-fb4ae1f33efd CA343724606 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29415074-d0e6-49b8-ba9d-62b4cf24bfca CLINVAR:806282 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab40dc2a-8b66-47e7-99d4-3ea943e725d9 CLINVAR:806282 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb430e8d-dbbc-4742-91b5-4d197dad802a CA343723939 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fabd4920-a6f5-48c7-83db-e19fd69c75db CA343723939 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b94c0fa-a539-4006-87d5-c2f8245abf15 CA343723671 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3c62843-f13b-4eba-a9f4-c2ca6cac66c4 CA343723671 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75033613-ece5-4bd6-81f9-4b631b76e79c CA343723526 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41c6816c-8fd1-40de-b6c1-c0cecff75193 CA343723526 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd1871ed-16fa-4a67-adb0-6564578b935c CLINVAR:875032 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89319519-b1f8-401d-9dc3-8a6da69a9cab CLINVAR:875032 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b4156fa-bf43-49dd-ad89-37b7757307f4 CLINVAR:1173106 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da891f7b-21c3-4c35-92b4-1bf6e64144a3 CLINVAR:1173106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6297e23-e75d-4547-94dd-4e14174aaaa3 CA1244341 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4f5e492-a508-488f-a2d7-c2cb8a2d0775 CA1244341 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7cc54b5-e674-4aeb-b195-a1d8faa811d2 CA343722726 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8b9dcf3-fb1c-46f9-916a-f180c0a0ac3e CA343722726 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9d201d1-9b39-479e-a414-2540ef30cf19 CLINVAR:1048923 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ae69095-c4ac-44c6-90e8-e668cb73b7ca CLINVAR:1048923 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4f5f91b-d5fc-4e9a-a2a3-9566b57d0d6e CLINVAR:1302992 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0883b15b-d9c7-4f28-b896-eb394ae58bd3 CLINVAR:1302992 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51ac9634-44dc-4ef9-bcbe-912688c04f61 CLINVAR:877000 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5bb0955-37d6-4dfd-b946-70accbb0f6e4 CLINVAR:877000 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6df39341-73ff-428e-a06c-93051c6dcf00 CA343723197 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd7bb8b0-eda9-498d-a9be-fb2618da00f4 CA343723197 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63e5fb80-56b5-4cae-bb15-b3d0d1c02817 CLINVAR:431972 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c29ef4dc-cab2-456a-bc72-dd8f06743fd0 CLINVAR:431972 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7bd6a25-2d99-43a9-9f81-585e0a8828e8 CLINVAR:133976 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 774c3ef6-b460-4fe3-8a86-48f852057757 CLINVAR:133976 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74ecf9c4-cce4-415c-94ec-61f849e8d9e5 CLINVAR:242139 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 920855c0-161e-4a6c-b39f-cafbc428df03 CLINVAR:242139 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b9ee3f5-66b0-4a60-b24a-65b68a0cdb9b CLINVAR:479634 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2878ac10-ba5e-49c5-b7f4-3c4b630d8b02 CLINVAR:479634 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 497504b3-468a-4297-819d-bde94f148fb9 CLINVAR:825798 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99a06193-9c66-441c-898a-7b31f69f621c CLINVAR:825798 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ef75314-1537-429b-b723-e593c1003ba9 CLINVAR:825790 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 627a8e52-5ba0-4daf-9a85-954cdb6df8b7 CLINVAR:825790 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47ca4e02-eefd-4235-9bb4-8ccc0d1f768e CLINVAR:825823 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbe93126-8e01-420b-9152-de7633a3066f CLINVAR:825823 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6e7639b-c3da-4c37-b2b8-402ca69c6cfc CLINVAR:479625 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c6f2546-ce09-4480-9a58-235928107377 CLINVAR:479625 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22962a6c-a621-4ae3-b966-7bb7b40fa6da CA915940290 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 826d4435-2c84-49ba-a79b-4258aaad8216 CA915940290 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 306d81cf-ffc9-4886-91f2-309c4c3a7e33 CA399801154 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c7b90c9-f2f2-49d4-9050-acd9f6480113 CA399801154 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b7e3094-9804-49b1-a8f4-05787107b54c CA399795582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d18d4112-793b-41d9-8588-352ebaa92aaf CA399795582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9da303c-ed4d-440c-856e-ed9b3c331a7a CA399803370 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4052c63d-1d0a-405d-b24a-fd93a10758a4 CA399803370 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7f3f076-0a2d-4218-aef1-cefa317f0aeb CA915940265 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16dd835e-b4f4-42de-9dcb-a043bb8c2ede CA915940265 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d307955-db6b-4d3c-a972-e4abead49df3 CA399805578 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d8e1e8c-a09a-40ac-be42-2c63fb0c646d CA399805578 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a38904c1-581b-43de-959b-62c59c7e5cca CA400022111 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6719942-fdf5-4da8-a0a9-80a06e3d7c21 CA400022111 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 678f1c35-1b6b-49db-a94d-0da7ad4857fd CA400033092 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen feb3ca00-7061-48a7-84dc-1d8c6fe35e07 CA400033092 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaf546b2-ef12-42d9-a0b7-ef54c950c26c CA400023428 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc2e6ced-a75a-4084-9df3-a5205794cbdb CA400023428 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2941957e-c499-48d6-a07e-fd39f23339b2 CLINVAR:9590 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5228c71-6f1c-474d-a3b0-0260e5411e83 CLINVAR:9590 biolink:is_sequence_variant_of HGNC:7490 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbcdfd46-a64c-4b58-a140-6cd81ce703a8 CLINVAR:30004 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1046a7bb-98e7-4392-89b0-70bd9d2caa4b CLINVAR:30004 biolink:is_sequence_variant_of HGNC:7487 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7454a86e-c39b-469c-8153-2c89a1ef4ed5 CLINVAR:9569 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e15e9892-bf97-45c4-8236-f15155f3c3b4 CLINVAR:9569 biolink:is_sequence_variant_of HGNC:7497 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d19f31b-8a08-4b54-a5e2-7b37dec015ae CLINVAR:693062 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4372b1c-88b2-41c3-92f6-8dd8a7b213c8 CLINVAR:693062 biolink:is_sequence_variant_of HGNC:7414 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc56f263-136f-42e8-88c5-8fafdf67ceb4 CLINVAR:9722 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e4cac29-c302-4669-abda-d7534ab43781 CLINVAR:9722 biolink:is_sequence_variant_of HGNC:7455 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bd05deb-0409-4e60-a39b-e8a39faf4e6c CLINVAR:133144 biolink:associated_with_increased_likelihood_of MONDO:0007783 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0193249f-e54f-41d7-8de2-50591014f27b CLINVAR:133144 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38c1912b-33ee-479c-b8ab-b30262f4c167 CLINVAR:932844 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7ec23ecb-5718-4bfb-a9a1-34061d58c1da CLINVAR:932844 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80658342-0c6f-47cd-810e-80d400de693d CLINVAR:810628 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4d14a35-e7a8-46b1-aab8-8513fc7dbc98 CLINVAR:810628 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c24ff46f-e2c1-443f-9a91-de7066fe9cb6 CLINVAR:1312506 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fd72b591-bdf5-4ba3-97e6-f171995dc6b7 CLINVAR:1312506 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffd29e41-ecca-4c9b-9dd7-bc7677a2363b CLINVAR:8304 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c2b8a982-8183-4e6c-9342-bc638f058a1a CLINVAR:8304 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dac2c6af-8c19-4882-9443-fffede1462f5 CLINVAR:1067935 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf6578bd-7910-46ba-977b-3196cc57ccc7 CLINVAR:1067935 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1a49555-c008-4103-a0ea-7f59f3456e4c CA402994004 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0ad0325b-72d3-475e-9dd1-11a3fbcbfe70 CA402994004 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen febae87e-449d-4da2-b21a-4e074a8fd510 CLINVAR:939221 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e3b0a4d1-a7be-455a-bd0f-8b4e66b84a3a CLINVAR:939221 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60a99c02-4a00-4405-93a3-eae2d0fe3b9a CA504731701 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24b67d74-78d8-4d55-956e-42a5dd6db5b0 CA504731701 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e91b6c8-de06-4ce2-a46b-d11bd42bf6d6 CA402990982 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8f88f8c-ad5c-445c-9f27-1dda8bfd2c7e CA402990982 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05e8dfb1-8f76-4607-91a1-f322afaeb6bd CA2579753928 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e98c9c5-df32-4518-b08b-f2b4c1fde0f7 CA2579753928 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c8815a7-636d-45c7-b889-621255b11e7d CA2499307108 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ecf76f0-ee19-478b-a3cc-0839070880fe CA2499307108 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30cccac-a161-4cc3-8de7-d1dcc500bfdf CLINVAR:8303 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0ab2db2-0e16-44bf-82cd-bd86f51bfbb8 CLINVAR:8303 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91265ede-92a8-4c6e-a230-8cc321a02f6d CLINVAR:947458 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37d55a06-e41e-413c-9e42-21cc2e159a35 CLINVAR:947458 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e659bed-a675-4021-8b7c-b72e9bb08e56 CLINVAR:449690 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7dea558-4591-4a17-bbe2-62897a3bb6cb CLINVAR:449690 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66073551-7c23-43e7-89e0-757d4397b7de CLINVAR:1361089 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d969173-7b2a-4454-975f-ecd8926f6517 CLINVAR:1361089 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35818c10-55d7-46aa-bc2e-503568605e8b CLINVAR:2136533 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66386946-117f-45e5-917a-40d0d9defb6f CLINVAR:2136533 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e91072a-713d-4248-b5fe-931374fa3e8b CA2018007653 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58cc83ac-d0c6-47db-818f-992aded0dad7 CA2018007653 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a3d579e-ff73-4f17-8649-336c6cda0c56 CA367401305 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03aaefe7-30b9-4474-9e70-dc9f7cd2d189 CA367401305 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d09d4579-e858-4deb-bdc0-9ad786c18745 CLINVAR:36224 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6208e876-0f15-47e6-a6f0-2ecb260cecc5 CLINVAR:36224 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba634c67-113e-4005-b165-3745a76b665d CA367402542 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c4bfa22-f33a-4043-859a-c7140cd105ed CA367402542 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfcd8be8-c79c-44ab-baf6-cebfde9c3e25 CA2573102977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 949af764-a5a5-4a55-a617-aac5a0eeeb9f CA2573102977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75f2f927-c6db-4e9c-80b7-a078fdadd960 CA2573050986 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78e62008-2842-40d6-be8d-ce715384e11c CA2573050986 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b9ae4cb-4b7b-456c-9fe4-475ccafadeee CLINVAR:1299751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75d299af-0757-47b9-aeb8-09ec4b778d39 CLINVAR:1299751 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e2e5e39-bdb6-490b-9621-bac0df1a754a CLINVAR:1299750 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8eb908a3-7502-42d3-8363-0acc364d1c0c CLINVAR:1299750 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4807aca3-5c22-4322-99e5-c9ad7a6e84df CA409103994 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1e628f9-b544-4d30-aa6f-f67b149f92cd CA409103994 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7556b3b0-b0d2-4215-b263-3a63082d30b6 CLINVAR:393110 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39d0c2bd-49e7-4280-9a10-b8b8afcc6186 CLINVAR:393110 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92965a22-66d1-40da-b7f2-e815b9eb4316 CLINVAR:447515 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37d131f1-9859-42a4-b866-dd681e3a46c4 CLINVAR:447515 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b8adac0-ba8f-4389-93c9-4e4ad0b3a235 CLINVAR:36348 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc505e7d-7af6-47f5-89ef-149d7b10ccc0 CLINVAR:36348 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81afc5b7-4555-4e8c-92b4-b2bf0dc2d668 CA409104377 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec317b5e-5a16-4d3f-9fb9-977bdbc58d3e CA409104377 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d8d8461-f11b-4d0d-b7bb-027ef8848c99 CA409105868 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7fc43b8c-0592-4319-8c80-d17c03d37203 CA409105868 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 303dc488-4bb7-4459-94b1-0e8fdfae31c5 CLINVAR:9215 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 356a962e-9e1f-488f-8cfc-db4f23153aaa CLINVAR:9215 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 892d213f-712a-4522-b79c-afcde99db0e4 CLINVAR:36356 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6974f9bd-50f2-4818-9f5a-6c9e7ef9f0e6 CLINVAR:36356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05fb2def-e025-4430-ba97-30b81089acb4 CLINVAR:1700660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46ee58a5-7fd2-441d-8b94-63f12a3dd7ec CLINVAR:1700660 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91cc0d08-9025-4a55-8080-03433758b8e4 CLINVAR:586021 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8240cb90-8bfe-44c0-8481-949841a2ef0a CLINVAR:586021 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3e621e3-123e-46c4-a3c3-ff0988835677 CLINVAR:972810 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa730664-6585-4cff-bdea-10d7c7d7759b CLINVAR:972810 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ef9a2d7-2e49-4ab2-94ba-585632eb2701 CLINVAR:36344 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a2fbd34-180d-4a05-bf2e-7d789a3d0714 CLINVAR:36344 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 858b9a6b-3922-45e1-8889-55dd8e137db4 CA409110466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e711d028-b935-4be8-a1cb-467e56385edf CA409110466 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0383068f-7541-4ab6-b039-0d1cd399e29e CLINVAR:875084 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9240246-1e02-4c91-84bd-ee167d9caf73 CLINVAR:875084 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db71bba9-a1c7-4054-8b56-93c8a28e04ff CA1244285 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8140d9e-e4ff-41e9-ac59-cebe455d80a1 CA1244285 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9829482e-4e69-40bb-bb32-d4d4eccb4d9c CA1244113 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7fda7b7-ee1b-4828-b8fd-5540c7c60dd8 CA1244113 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f923eb90-7849-4dce-8930-0a3c41750802 CLINVAR:293710 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f0f3094-70b8-45dc-b612-53faeab7f84b CLINVAR:293710 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61921733-a1b0-4fd9-aa32-3fac8981a6e9 CA1244072 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68d9bb2e-f219-4a4e-9703-a9eaebb721a2 CA1244072 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15296b76-bc45-4730-ab80-9d1fad32af17 CA1244046 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d142657-4f3a-4e92-ac16-23ba5a9b43f3 CA1244046 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1168f95-6406-4e92-82d8-eba43469d270 CA343723639 biolink:associated_with_increased_likelihood_of MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fbc137a0-ea80-4cd7-81e6-57d1d28f78ef CA343723639 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99b85743-8a27-4caa-82b5-382b998d70f6 CA343723002 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b68102e-23c4-4db2-b19b-d6c41acea087 CA343723002 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18805cf1-6104-4d25-b758-bd1edb889782 CA1139771053 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a191bca3-47d0-42c0-8e54-98373e78e69e CA1139771053 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4058fdf7-2d3e-4a88-bf59-312dc62daf8b CA32686049 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccbc808f-d1dd-4049-b416-ffaf88f3fbb9 CA32686049 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e2ae313-44d9-4b62-8aa3-997468d5b268 CA343724078 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76e85677-dea7-4fde-a37b-db7f0a3ad719 CA343724078 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef260884-9138-4b5e-ac8c-fbca5d7dcce8 CLINVAR:877041 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5591a2ae-2c33-4698-980d-9217c0710aec CLINVAR:877041 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95fd78dd-c171-47c8-b05c-c016a537f594 CLINVAR:1324771 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96984262-41ac-4358-8db1-89a303453346 CLINVAR:1324771 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f165b7bb-b21a-43fa-90cd-8f24ce62b537 CLINVAR:701285 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b9ce9c4-63db-490f-be5e-f6f18b6a143d CLINVAR:701285 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4fa94b0-b6c2-473a-86a7-b2b3f45e9493 CLINVAR:627234 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e44cefe8-65f9-4b3f-827a-395d55737af6 CLINVAR:627234 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b399bf15-2559-4156-9d13-07d9e17bcc37 CA399806497 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fefc0063-4aa1-407a-a1b6-a328bc47a28d CA399806497 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7148a991-55ff-4ae2-ad4a-0def448d0c04 CA400034479 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb3e126f-d7b4-40e0-885b-d7c71dca544b CA400034479 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6013473d-7d98-41ba-972b-8c2cddba274a CA399806084 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 383a82cd-44d7-4470-b0f4-06b272e06b55 CA399806084 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de22726c-385d-47fb-aa20-312ca5081365 CLINVAR:2181112 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e743df23-7680-4ea7-92e2-7630264cb421 CLINVAR:2181112 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e9fb60d-29c1-486a-9a9e-7a3a2659783d CA915940780 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 18daf987-e607-4cd6-a95e-1399809fb753 CA915940780 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 633d0be2-8571-4134-9770-53162c21ebc2 CA399802364 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03943ca6-dc8c-45f9-9ee7-9cc326b1c9bd CA399802364 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cdbe228-0570-4715-9680-548e4c5d2063 CLINVAR:892302 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60ec0e2d-7bc2-4f9f-b3e5-9ea99ea45c84 CLINVAR:892302 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 708ef157-c947-47ba-a925-6c1ca1d3f09d CLINVAR:983532 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 26aa3644-810a-497a-b04a-f52e6ea7f2e8 CLINVAR:983532 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 373b4020-d9ca-4b21-bea7-41cd5a491639 CLINVAR:573140 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6da73534-eb86-4ffc-9d7a-4411e8eb4650 CLINVAR:573140 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 525a040b-7b42-4ed5-9c84-ddfe578cff49 CLINVAR:932829 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fabc60ef-9936-432b-87e7-1f17fdfba708 CLINVAR:932829 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b73a545-507d-4556-b9bb-4e8f107c11b2 CLINVAR:189008 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc1e0b0d-5b91-4fbf-a51a-63043202c301 CLINVAR:189008 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa3c122f-cdbb-4264-a1d6-490efab8e291 CLINVAR:2058739 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 064e845c-3542-4ded-9bff-d47a021d4e01 CLINVAR:2058739 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4746b2c-81db-413c-9648-459e4cd8d2f2 CLINVAR:1623 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4744b705-badd-4b0f-a94e-7d915f0fe1ba CLINVAR:1623 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c18d1e16-cac5-4353-a517-d79b9c02058b CLINVAR:406374 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cbd6b1e7-23a9-4966-b7b9-93f4838b5ddc CLINVAR:406374 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f664a38-0f23-4a80-83c0-86dbf062d0b5 CLINVAR:42420 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8f1de49a-ad5a-44cb-8a2c-ac47bf180fe5 CLINVAR:42420 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0354871-4213-47b6-9ce7-7823737e71da CLINVAR:426140 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b063f3dd-353f-4509-95ae-b36262d343d4 CLINVAR:426140 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5558769d-706e-4a3b-9008-723268ab420e CA916084365 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4c26123c-9df4-4e3a-90ce-3cf9271f14e4 CA916084365 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89654861-0523-4a76-bd18-4d86d4bd86c6 CA392325892 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83561239-255b-4bd7-b4fd-539040dd2a16 CA392325892 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 774f55c5-d91c-4db0-a02c-52f8b3244a1a CLINVAR:200198 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9172b3e-35d6-47e6-a5ae-0df925b3fa7b CLINVAR:200198 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b5b9ef4-2aaa-47af-b03b-8d674b628d5a CLINVAR:431935 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f9316b0-7c4f-40d5-a93a-554b8c5b2455 CLINVAR:431935 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df3c4894-eb1b-4ec5-bdec-50088eb71930 CLINVAR:406332 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 448d489b-fb4a-4ca8-8de6-618d61e04770 CLINVAR:406332 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4716ee85-38a1-48b1-9e96-4c057a018396 CLINVAR:373598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 395c83ea-244c-4e13-8033-da241eb9b798 CLINVAR:373598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc388bb7-af7b-4b62-b9c2-fe3922f9f833 CLINVAR:189623 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 696b59c5-8ccd-40bd-8143-b66026f3429e CLINVAR:189623 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b2cda07-e348-4a95-be86-a028f4107d9d CLINVAR:217360 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6625b5b2-7aa9-43e6-9773-075b16f7863f CLINVAR:217360 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3263a605-8678-430e-b052-362cc3cfb3e4 CLINVAR:286706 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22bcbe5e-d9a0-483a-99eb-494db43880c7 CLINVAR:286706 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ba34df-8690-40a8-a10d-e14c7a28ff3e CLINVAR:452682 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5140a56-ce9a-41ae-9016-c16e5f42acf1 CLINVAR:452682 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44a6d544-6512-44a6-b03e-71cd67861e67 CLINVAR:547390 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69b888cc-9008-490c-b1d7-e0d83f763b0b CLINVAR:547390 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78373abf-9807-48bc-9bbe-7c2060d4708d CLINVAR:658951 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03c34c19-a6bd-43ff-8baf-f1fa042e263a CLINVAR:658951 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac520435-4015-4a83-95a4-04efdb37c8f0 CLINVAR:803714 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d4cfb9b8-7246-4c54-905a-ac7d1c357a67 CLINVAR:803714 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aba824e4-efda-4ffb-b647-48e16244e4b2 CLINVAR:870171 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5065ef9f-70e1-4b81-8141-26c4f2638779 CLINVAR:870171 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d81c2fe0-8bde-4c5b-ae61-8667f96495a2 CLINVAR:985267 biolink:associated_with_increased_likelihood_of MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a8da927-04b6-4cb6-9276-81757481b97c CLINVAR:985267 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 810485f5-9126-4a0f-8059-b670fd77a911 CA2573102976 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4ac453be-c3b7-45bb-ba7c-a1d6b7f687bf CA2573102976 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c8d261b-ffd9-45dc-bfdf-4894ec501d8e CA2497028747 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e99c00d9-cd67-422a-95c0-2507d377e0d2 CA2497028747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2822b04a-a4d5-4169-b48c-5ad767513ff8 CA2573102978 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6907991e-6ae0-42e8-9a18-23329cd4bd56 CA2573102978 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d776e7d-41b8-42c3-869f-b383f3d17095 CA2017997780 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78041cbb-efd5-4711-bbb7-c0bb1bafe251 CA2017997780 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8f24a53-375a-4073-aca4-951011b8040e CA2017997779 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 51a6b75d-d629-4cf1-b062-050739266eee CA2017997779 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80ab2f5b-f522-4707-bae8-078ded74d1bb CA2496602227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3668e6d4-cd61-4b5b-b4f1-0b4bbf4b1a1c CA2496602227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 370bd011-89d3-413b-b180-ec5a1ed011fc CLINVAR:1708917 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c31e482-c149-4113-a4da-ca881d30e0fd CLINVAR:1708917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c952a34-4b5e-4e7a-be82-2e9b2c11fa91 CLINVAR:36197 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e49a057d-cda3-45ec-9199-940debd6dda7 CLINVAR:36197 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08466a89-eee1-422e-a2f7-c7f7b7207093 CA367397060 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fde3ebe-148b-4a5f-909a-ce098d6b48d4 CA367397060 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0376820-15a3-4d25-b26d-fc234a139a42 CA2017997767 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7dbd1cac-f317-406e-a50c-db5a62b95f3e CA2017997767 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5d26452-699d-48e1-bbb1-d9765e4580c5 CA2573106064 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8532d70-b6e1-44f7-8992-be24241b8800 CA2573106064 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a5561a7-b8af-49cb-9032-31dc63abb480 CLINVAR:36191 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05beff94-03a7-4c01-bed4-2561360ff029 CLINVAR:36191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4b7951b-f734-4f12-9b5a-4d81082d311c CLINVAR:1301411 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8f73452-a18b-4a66-ad9a-5598311235c0 CLINVAR:1301411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ba9a1d8-b87d-4c3e-a301-8762979784e5 CA1139771342 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c553156-a0a1-426a-bf67-f219d3dbda79 CA1139771342 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab899e5a-475e-4d4d-ad22-30229e116680 CLINVAR:817706 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f4d131a-52bf-4968-83c6-26c081bc6431 CLINVAR:817706 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b86b7b7f-145a-4d0c-9100-44e63523bb98 CLINVAR:597013 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32612b66-480f-446b-acef-3ee8f4794f53 CLINVAR:597013 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fce0b056-7d4e-4d30-98bb-11324d26a318 CLINVAR:654347 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc73b161-677f-45f0-a307-2484b33ba46d CLINVAR:654347 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 757aee1b-6831-425d-be9e-8ae92003dc48 CLINVAR:390176 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0daf5217-a923-4d41-b4e7-fb6f637cd84c CLINVAR:390176 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 295e7bf3-994f-4a90-9f7f-ccea35b48f09 CLINVAR:850340 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b4a1d5c-9c87-49f0-979b-48bd940e1c5e CLINVAR:850340 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75422ccc-1f57-4991-ad4b-2d5490c6f2ff CLINVAR:418562 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 99a63a16-5517-46f2-a0b0-01d5d8e4ead4 CLINVAR:418562 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3583d11d-5e9e-466c-b709-46fc49f2a9e6 CLINVAR:211455 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 837d0986-1897-45cd-84a7-7edf66ef0d1d CLINVAR:211455 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1061005-26e7-4310-b972-16059f83e9b5 CLINVAR:804844 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3d8f254-5dee-4592-bff8-514c7686c133 CLINVAR:804844 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaccca7a-d9ff-415d-8963-f865205729a2 CA2017997776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 89db9d77-ee2e-4aad-9fc3-f340b67f563d CA2017997776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91728f57-443e-4f61-8ef6-8fccdc934091 CLINVAR:393448 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb16b9a4-c1b8-4d53-b050-856f9cc068a7 CLINVAR:393448 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 579f09a8-deff-4916-97b4-441f71c6f4ef CA2017997775 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 74c05d3a-1663-4036-bbf6-de968b910a89 CA2017997775 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ff46e81-2ab1-44d4-a840-c88f80887a0a CA2017997774 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14b5c197-bc1b-4118-9803-daf4b92caa74 CA2017997774 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e96c1686-46dc-4682-9849-3f0f0245194e CLINVAR:421604 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c570f183-22ce-48bc-b738-c23e75822260 CLINVAR:421604 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a0c2db8-07f3-4c93-b248-d7381f25f686 CA2017997773 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf6099cc-9fc5-41bc-957e-3d2234483e7d CA2017997773 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a279025a-8a37-4d30-85f8-830ce1d6791e CLINVAR:1320655 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e965de5c-4108-401e-baeb-c3a99ba41de4 CLINVAR:1320655 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 722ec388-f920-429e-b62f-e6968184934e CLINVAR:435298 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dec4d7db-b2df-40fe-bebf-107bf10f9198 CLINVAR:435298 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57160b33-54c6-422c-aa99-3fd6cc9da027 CA2573106102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d9e57c3-63ce-4840-bf01-38b12d85dbf8 CA2573106102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69a40238-c1d7-405f-9f9f-672631155fe8 CA367397036 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen de24f333-4fa0-4a47-9b04-35e94169f22d CA367397036 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4dc2a7f-7304-42c4-9bea-fd090ad1cb96 CA2573106063 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 80c215f3-cfe4-40bf-80c3-00858d7b05bb CA2573106063 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cea4ac1c-3bfb-4864-820c-1448c7f4751f CA367397114 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ffee2809-77f8-476e-82b1-5ada726609e1 CA367397114 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a03aa282-b6d0-47d6-af94-1303251a6688 CA367397285 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5102ad79-dbc7-4fe0-91dd-77bdb9a2d416 CA367397285 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70371a58-c012-424c-bd72-540540ea381f CA2018007672 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a7456af-7ddb-433c-91d2-42ba6565ddf9 CA2018007672 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78fe556f-c927-4d38-b054-d82f92cb0d51 CA367397309 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 101f559a-d760-49f5-9d30-4363a03c6b95 CA367397309 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d58980a7-92dc-4dcc-928a-939a96df4c1a CA1139771322 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59aab02f-5af6-4a42-ae0d-7146823b533d CA1139771322 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74b3d041-6203-44be-a93f-8b1d0dd08eb0 CA367397313 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d68914e6-df70-4a2d-b686-1ae6f24f5fa5 CA367397313 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692b1fb8-ee2b-420f-995a-f80588e8eb8c CLINVAR:252467 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d202cdc-775f-450d-a111-0ea687ec08a8 CLINVAR:252467 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 879d5fdc-37ba-4727-adb3-e063ee35a9bd CA367397324 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3a8f0121-af3f-4f49-8e10-835a52c3c242 CA367397324 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42cd3881-c68c-4ebc-9b4f-af79f034ca41 CLINVAR:36188 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 99d6d956-9049-4b30-84b7-95eed737f03c CLINVAR:36188 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6ddb47a-6d53-421f-a74d-597c3db53541 CLINVAR:811525 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e7ce735d-98c8-4244-91b1-cca41ceff507 CLINVAR:811525 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b97f17bb-b367-49ca-a11c-50d392dfbd2e CLINVAR:371635 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b659bc2b-47ef-4a39-9ca2-eab249a6b816 CLINVAR:371635 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91539ae0-f488-4fe2-b3ce-16339ef80429 CLINVAR:932836 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0634059a-c2ca-4479-b3dd-d504a5b2b946 CLINVAR:932836 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ebfe254-2c29-4d5f-876f-4ff82f04e3ed CLINVAR:811520 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cbb9b9a-8829-42e7-a48e-2517a48d603d CLINVAR:811520 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdffc4a0-65e3-4e73-96d2-6081b72afaf7 CA1139532272 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f7df6cc4-241f-4b80-9df3-5a3b3fdd5d20 CA1139532272 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21ccbf58-2cf3-4ab2-996d-817c8de8fe80 CLINVAR:965068 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0e9ba1cc-7879-4391-9a72-68a049e361f0 CLINVAR:291163 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe294cf5-e5b2-4f6f-a9d5-068cd2392284 CLINVAR:291163 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65ad0c22-189d-4639-96d5-d66194291dde CLINVAR:370981 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33bda0ba-022e-4672-ac42-a9c69ac475ce CLINVAR:370981 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60f0279c-5f04-41d4-bb7b-3ca0a32f9b30 CLINVAR:932832 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02bc49e3-204a-477c-aa30-6add0d12951e CLINVAR:932832 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 831a8691-c4bf-48a4-b533-db8d5c74a173 CLINVAR:932831 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 383cd50e-11f5-4f3b-84ab-f876eb4536d0 CLINVAR:932831 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a5d3230-b392-4ac6-9620-a56d10f4cfa9 CLINVAR:656452 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a14c14ee-f573-4543-810d-fc288217419c CLINVAR:656452 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2317a95a-09bc-4d50-a668-a97ac6eb648e CLINVAR:932839 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a3fa626-b36c-4435-94ba-3579570608bf CLINVAR:932839 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8b7b16e-90ee-4739-9a0b-ae54a1739e99 CLINVAR:178503 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6af23495-e667-46e7-b0d2-908c0b759a97 CLINVAR:178503 biolink:is_sequence_variant_of HGNC:8515 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b071bc1d-b63f-432f-950e-aa65db6d1b3b CLINVAR:446446 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e9c35ce-c404-460b-92c3-f051a8039555 CLINVAR:446446 biolink:is_sequence_variant_of HGNC:13733 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d51be4a-1851-4476-a0d7-e34b80545d89 CLINVAR:265402 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48027ca2-7d4a-45f9-847d-7b9e7ca70cc6 CLINVAR:265402 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90cd6f10-0c1f-4036-a989-7f90857abd0a CA1244149 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 887aea25-3137-482d-a12f-c8b187803fd3 CA1244149 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c76a57a-1d87-4283-8f2b-b36d1e526765 CA1244148 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15886603-377d-4535-99bd-c98817766591 CA1244148 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6c5a2d1-fbe6-434e-8bb8-2461c27e4d6b CLINVAR:1698736 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c2c0254e-848c-46b4-a00a-69482189a885 CLINVAR:1698736 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0aa3cb5-ed23-47f6-823c-6f91a6d243b1 CA1244099 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c63f2ff4-9c59-48ad-80e0-6323dd1d068f CA1244099 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8422f5a-0345-4090-988f-284397eeea6a CA343724527 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b48c3b1-86c2-4db4-9ab6-321308c0a6a0 CA343724527 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe9b257a-9713-456a-868b-a688c471951b CA343724521 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7d549bb7-7f1b-4694-9796-d3f970bba5dd CA343724521 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9e4b713-5021-44fd-8f96-6759b3790380 CA1244069 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 087b8f56-ab97-4e8f-8b03-d2d92474e2e9 CA1244069 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86951b34-7ce8-40c1-8c9d-809eaf214e6e CA1244068 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4004da06-df6a-4fb2-9440-8a610b09db2b CA1244068 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 839226aa-9358-4615-b218-35640e62b4fb CA343723421 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f76b6d75-38d4-41ae-a5b0-04fbda798819 CA343723421 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb8fb719-b54d-4969-8c58-5c4ed133e4a1 CA1244017 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b3e54d8-2f30-4a08-8671-d37486b55e81 CA1244017 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb5db1d0-9dfb-4800-9359-c238064fd66e CA421939232 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25e6bc03-3833-415a-9196-1fdd8fe89e82 CA421939232 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 943b9544-1665-41f8-b69c-35592c19e7a4 CA343725024 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fe63419-9fb2-469f-a49b-2d279b9c7a83 CA343725024 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e41afe5-f90a-40a0-a48d-c2e165a4bc3a CLINVAR:625855 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6411237-65af-422e-bcde-10068d1ab09b CLINVAR:625855 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e506bf8a-2c6d-4df2-9106-fff47dda22f6 CA343720209 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5312293b-addc-4c6e-8f74-4deca7ced3f5 CA343720209 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95076bde-b4a6-4054-955e-66717a2cf5c0 CA343724106 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab0e5e05-76b3-4d5b-94c8-d1a0ef0a7ede CA343724106 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 211b640a-fbff-498c-9b8f-3c63292a4fe7 CA343726305 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4987e20b-3560-4577-bffa-0684a192305c CA343726305 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 081a210d-9789-456d-a07c-b854a801fe54 CA343726308 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1969640-10bc-4dad-8ea4-a67f5003729b CA343726308 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c7a959-0eac-4035-85de-510ccb3daf73 CLINVAR:21077 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d846f61-935a-46bc-9c66-2549ba8efe82 CLINVAR:21077 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1584bb32-f936-4c11-a185-ab12d0a82f98 CLINVAR:2169517 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 97fb0259-e1a0-4aa4-b691-c57f90babf51 CLINVAR:2169517 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7161ccdc-80ac-4ba2-9792-54e3d49936c1 CLINVAR:1522625 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 032b1cea-4895-4a0e-8ea8-fe1eb5edfaba CLINVAR:1522625 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86440e26-f77a-4c26-aed3-26f14964b4e0 CA367398617 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d1fc1db-09a0-43aa-beac-8129b796c465 CA367398617 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b66c55f-6d0d-428e-bb4b-208bdda39d6d CLINVAR:585909 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f565420-9b69-4c3c-95b2-758c21e1b15a CLINVAR:585909 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ab599f-2776-40f4-a1c5-47c43eea912b CLINVAR:1256304 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09aa22f1-4265-411d-9502-0e6939842896 CLINVAR:1256304 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d16608e8-a0af-4a69-85b4-be6a9a0713b3 CLINVAR:447384 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 367a143a-558e-4c9a-9290-b7dc90ff41ca CLINVAR:447384 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51881175-144c-4e9d-b273-5f36cb7c5153 CLINVAR:36178 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 227800fd-1fd2-45d3-8b4b-d793b58e5b42 CLINVAR:36178 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ceeaea11-a7ca-4ac4-9500-ee5b5bfd509b CA367398764 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c30266ba-47b7-4234-8bc2-f6be22635624 CA367398764 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8012093f-8bf3-4b87-9bf6-a0dc8cbaef05 CLINVAR:36177 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f579bfe0-e51a-48ce-80c3-13cdccdd69a9 CLINVAR:36177 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 625ee0e1-e343-44cb-b169-47a931838593 CLINVAR:447382 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 38fba184-8efb-4042-86db-bbd74ef05344 CLINVAR:447382 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa54a778-f674-44d0-84a5-984108cf428b CLINVAR:804832 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91b7febd-b9b3-4297-8cad-ff84646bc86d CLINVAR:804832 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 055f2452-886a-403b-b5f6-02b4c867f0fc CLINVAR:280955 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 33ef1190-578a-4b4d-ad31-7a08ff6d9d1e CLINVAR:280955 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb0186ec-4612-48a4-8b9e-a8962c842b11 CLINVAR:638014 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e6402a8-93da-472e-92c5-3c1e51193811 CLINVAR:638014 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87d1e518-c4e4-45d0-9bb0-4e835c6adf14 CLINVAR:960182 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03e6f7c4-c2fb-4985-ba29-32714e35e4eb CLINVAR:960182 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bd0cc91-20d2-4e12-95ea-df9f3f419d2c CA2573334965 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c72338f-3efb-406e-9039-c34e1797b7a2 CA2573334965 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c971f089-e2c4-4919-a736-506be67545f6 CLINVAR:1513387 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7bd37c8-a417-4832-93b5-cd01d177aeab CLINVAR:1513387 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a20404d4-4ad5-4c03-a395-da171321c6cb CLINVAR:483420 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f381381-c404-43d6-bf1c-c5e177f665f7 CLINVAR:483420 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44711faa-270e-461d-ae1a-9fd237986f13 CLINVAR:412149 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55f55344-8e8e-4ac7-85da-99bb57405177 CLINVAR:412149 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04dc2595-0413-473e-8aae-8a8a67489ad3 CLINVAR:825706 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eedb22b1-5529-490d-bb97-0f57785f242e CLINVAR:825706 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c605c17e-9f4a-4eba-a6ea-fa47e6bbf20d CLINVAR:825692 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 732830ee-e536-484a-a274-c38fbbb8acc5 CLINVAR:825692 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76e643da-b8cc-47d4-9576-c663c5c1f72b CLINVAR:485537 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12d64772-a3fd-4b25-bc4f-b7363aac697f CLINVAR:485537 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92f5aa57-649c-4319-94b5-869e9b85ed87 CLINVAR:825630 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 333b7fcb-ec7d-45b4-88c6-ef3708103db9 CLINVAR:825630 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 154b1ca1-38d9-4935-99eb-3b55a0e20c04 CLINVAR:483441 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38b3f01d-e14e-49e9-821f-a9fc15657232 CLINVAR:483441 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e4488da-f595-4ea0-b652-285276cfdb4c CLINVAR:477252 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5b76cb1-dba6-43dd-aef2-2ac00816913a CLINVAR:477252 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e95ee8ed-8b79-4093-9bb9-2b52364d62ef CLINVAR:804344 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd041a3e-a2c0-4202-a87b-866866bfc73c CLINVAR:804344 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cea27d53-1c5a-48e9-8ce2-72af63cbf546 CLINVAR:426122 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c56957f8-c39f-4a90-a84c-1c90db7cf4e5 CLINVAR:426122 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 257009e1-e173-434c-b939-7da95e0eec78 CLINVAR:553638 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66b1a231-5198-4eaa-9598-cc2e5857d675 CLINVAR:553638 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf55d3f5-6bfd-4235-977c-e424ce788c1a CLINVAR:102594 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 766f5aef-f307-4759-a966-138747600fbc CLINVAR:102594 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db099ebc-a18b-4b0d-8ea1-c9c8f84c8887 CLINVAR:102765 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 394e0388-ba6c-4122-a07d-7d8f9c583770 CLINVAR:102765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0afec502-e8ea-4a15-bc01-08eec4238023 CLINVAR:102903 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7c1a4b94-031a-42e5-bd6d-1ab64ef18111 CLINVAR:102903 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8ae01be-d872-41ad-8e3e-60c20ab1b469 CLINVAR:102503 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c200fce-0a97-4711-9d22-53b43c9a9516 CLINVAR:102503 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a2338ae-b8e2-4e04-9121-cdc296f27c0c CLINVAR:552806 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a558324-cc49-4642-979a-9aeb8e828498 CLINVAR:552806 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b6ed4d-cc74-4d4d-b615-19c8955c5f3c CLINVAR:725756 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24be61c4-2fd4-47e2-beb7-7faeef72d485 CLINVAR:725756 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aed1857c-8779-40d2-b479-f1703346c218 CLINVAR:733267 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1454a84c-ef87-4a88-a2ac-a805e40e26db CLINVAR:733267 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ec0f79-88d6-413f-9adb-b14dde073781 CLINVAR:755030 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d546e97-b8b9-4255-9d7a-6da1732afe8c CLINVAR:755030 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28e791ae-4156-4561-a4ad-40bb730896d9 CLINVAR:760907 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 766e9810-2058-453a-bd58-0c410714ce22 CLINVAR:760907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3df8132d-c6bc-477d-b280-1ac501de3c73 CLINVAR:883189 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fee9599-4cdb-48b3-a122-ec5a000da700 CLINVAR:883189 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2549e65f-b516-4bb1-b468-8820a8c837a6 CLINVAR:991620 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6ddba3e-d68a-4dc5-b971-84dd93f3a548 CLINVAR:991620 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e549ab6d-86b0-41c8-9482-d1fe05306675 CLINVAR:991623 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1bcc88fb-df2a-4450-b632-db1712c1481b CLINVAR:991623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dd8fa35-aa63-4dac-90ab-3631f3217861 CLINVAR:991624 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 752ef507-7535-469d-aa8f-da8ad4b68777 CLINVAR:991624 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a416f03-1a77-492e-9c37-86c65983fd6f CLINVAR:991626 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbac9dfe-befd-4c8b-9e70-e92eaeb92396 CLINVAR:991626 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ebd408-22bb-4cc6-bffe-401844a2bbd1 CLINVAR:251525 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2be90fa4-5115-419b-8b0c-e5b7ccc0cfd0 CLINVAR:251525 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8156dce6-d1b2-454c-91c1-55438b544312 CLINVAR:441199 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fb7a304-9153-40e7-aa7d-174e577e042f CLINVAR:441199 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bca33351-b11e-4d04-8a9c-3c466cf3a4ab CLINVAR:251526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c587b37-a1db-4b4c-a930-1e884a8a45a5 CLINVAR:251526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17aada76-3082-4955-808b-c7acf3a90a65 CLINVAR:523725 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 271a94b3-a480-4857-9b9d-f8e8e90c143f CLINVAR:523725 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0536904-e988-497c-ba99-c923fd56ba53 CLINVAR:251527 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0490f1a0-9992-453b-b72d-413ff0a6ef1a CLINVAR:251527 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 713001eb-63b5-4a2e-9782-d7b2950d2a49 CA367401753 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb2480d4-0c9a-4c08-ab4e-b05c8100db76 CA367401753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 214c8c86-bc90-44b8-b4af-c538dbbd6b31 CA367401755 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8dc8000d-b58d-4649-bc42-517dadd086d2 CA367401755 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756438d6-963a-4ea8-a10f-9b7aeb583276 CA2573102979 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76fae1e3-0e0b-4847-a6ec-8f5a3f1e79a8 CA2573102979 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60bef2bc-001a-426a-89ed-13be60da4c3c CA367396876 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 98d7da00-c864-461f-bfff-e1dadb9c9090 CA367396876 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df8b5b6b-e875-4a73-ab7f-5e55bf158cbe CA367397326 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b576af0-c695-48bd-ac8b-e3b267b03e39 CA367397326 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8381fa61-3ad6-4600-b322-433346619883 CLINVAR:447412 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb8e02c1-0566-41ad-8430-a0c3d52460cd CLINVAR:447412 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a87770-a91f-47a3-b154-89d49878a4bc CLINVAR:16141 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9ac8d340-db7f-4103-8da4-60b1afe0a12c CLINVAR:16141 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17589eff-4e14-497d-87ad-63976409a332 CLINVAR:36236 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3dbc1c89-63c5-4354-aef5-f909a9c13a09 CLINVAR:36236 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d27989ff-f773-4657-a2ff-defa750eb043 CLINVAR:129143 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba84e066-0f11-4729-9960-d43c4d4911db CLINVAR:129143 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bffcc16-54b3-4efa-b71d-9c7059cdb1b7 CA2017997770 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 875f489d-abe0-45dd-9535-3810290d5f30 CA2017997770 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b84d7960-8170-446c-b47f-5289349b006f CLINVAR:804835 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca7c26d2-5699-41f9-b8de-ad807d343c19 CLINVAR:804835 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7b6c27c-56ba-4b3b-8943-1ed2aca51603 CLINVAR:1732973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f285ef04-1ed4-4c11-8095-2f3fa6fe349f CLINVAR:1732973 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23cc6f81-957f-42e2-b8cb-e534a0c78a2b CLINVAR:2574164 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3174bf1f-e5e0-45a3-988a-40f8aa355dca CLINVAR:2574164 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c5877a-f6d1-412b-8e1c-dc62160f6c88 CA386965806 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0fb3a81-6aab-4ab7-971c-791eafd14ca7 CA386965806 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae418523-8dce-4e50-9278-1353b356ef01 CA386969831 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d856f045-a941-4e8b-81ec-9cdfb9696a10 CA386969831 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7affcac-93f4-4ed4-98fd-ae15b00062a0 CA386969829 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c60e62b-fea4-4c42-9ec7-dce7e97d768a CA386969829 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55fff568-2c8f-4f9f-baf6-1a18e9dd99e4 CA386969822 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a694a8b1-a5d6-4526-b8f6-6c0997d406e5 CA386969822 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2e36019-7bc4-4af1-92f9-3c84407881bc CA386970356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a78f8d8a-ee02-46ac-93a0-c3f21311bfbf CA386970356 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e765adb-27fd-448c-abbc-a10b4cc1cdbf CA409106019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c4f00a9-6dd7-4224-a980-bb784d6dc9db CA409106019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eec5302e-ffa1-4d05-b3c9-25965331a931 CLINVAR:1744896 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15a66545-76e6-48af-a8ca-46928d0520e4 CLINVAR:1744896 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 018eb8cb-dba7-40bb-8980-091e9f4aade7 CA409107443 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a9203dc-53ce-4f99-8f64-ee53182f868a CA409107443 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1579e2fd-918a-4432-9146-76a8a0bac827 CA2573106200 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3bba2cd9-1e2d-4015-b315-6feb68fbb4d0 CA2573106200 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0043471c-02d5-4eb7-b72d-55c773c631b0 CA409108146 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b469bfd-a2cc-4d31-b379-27dad66fdce8 CA409108146 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58250876-9255-40d0-9537-fe04f522761c CLINVAR:585923 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8510d280-16ea-424a-a602-68fc346419c0 CLINVAR:585923 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95b292db-491c-476f-abbc-15b8c72915c9 CLINVAR:804834 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a54bc9a-89f7-41c4-ab15-eeaeaa774c3e CLINVAR:804834 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64ec0828-7673-4cea-adeb-cab60cc8ccfa CLINVAR:481178 biolink:causes MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5b7f586-9eac-4690-922f-11dadc625de1 CLINVAR:481178 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a0b26b8-4b7a-4afb-b371-e8a597e0a466 CLINVAR:532446 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce5415d8-f61a-4f97-8b43-c3ae278bfe34 CLINVAR:532446 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a778fb4a-cc25-4813-bf88-3e1c87207a6e CLINVAR:692767 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85081be5-b0c6-4ff0-92f4-665472ddc7b7 CLINVAR:228859 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fcccd602-236e-45b1-90d6-e58d7635a0f8 CLINVAR:489846 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 464ce099-61aa-4ede-b8a7-d59ec4255f88 CLINVAR:489846 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73df85e8-8683-4a13-97d5-7e3672c2618c CLINVAR:230669 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c1d5886-309b-4ae2-84d3-53d2d064c54a CLINVAR:230669 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82c56fc0-ab71-4246-96f7-3c44900e5c94 CLINVAR:481700 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen abde4c43-7f39-458d-b8ed-c906d84c30e2 CLINVAR:481700 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f3e809a-e5a7-4336-a9ee-be62f6ebb0af CLINVAR:481692 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4635557f-5c86-4487-a3bf-39bdc45af898 CLINVAR:481692 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac88128-d68e-4c44-8dd2-e9a271eadaa4 CLINVAR:483261 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8420b52-647c-4c7b-a2a9-f6fdb5de7141 CLINVAR:483261 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e5ec2fc-6758-4ac3-a4f9-f2e1adba65b3 CLINVAR:584516 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fa1f29a-b0cf-47f1-b70c-a4c3530b13b8 CLINVAR:220445 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5374e0b6-9557-4551-80e9-ecd4bc3ce97f CLINVAR:220445 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe7bb971-bbcf-485c-91be-a8be0e60a496 CLINVAR:235370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e0517ff-d1a1-4b37-8573-2c57a3636468 CLINVAR:377369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3eb0d9c-ab71-4706-9b09-3c33e01b88a5 CLINVAR:439912 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e32f7333-b25c-4714-bd9a-e6f9f4e73701 CLINVAR:428630 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0850718f-b9a6-41d7-be53-925065802578 CLINVAR:428630 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af9979a8-092b-4481-a4e0-84c2a9d53f9b CLINVAR:185005 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2380e45-3a82-41bb-9517-8b93d1797c34 CLINVAR:185005 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6b2599f-25ed-454d-9ac0-81b4df3a24a4 CLINVAR:921477 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c54b7876-debe-479f-aba2-bf98aa4552b6 CLINVAR:921477 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7fd3242-afb9-422f-9822-58952b94cb66 CLINVAR:428619 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c504ece-22ca-456a-8833-842a5e30f4ec CLINVAR:428619 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f34eafd-b289-47e1-a7ea-92d277faedf5 CA2229914895 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf9a98f1-53bc-4c95-9c37-4cf1beed154d CA2229914895 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd684a42-f44e-4552-991d-7055f73f0f16 CLINVAR:21076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a6c54a8c-bc44-4e8c-81a7-65920c141162 CLINVAR:21076 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47ea746a-2b27-42ed-83a0-b111300ce59c CLINVAR:16145 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8306e23d-2f12-4827-b59f-dc7040947e4d CLINVAR:16145 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a897ee81-5f99-44d4-be6c-417d7a51e2fd CLINVAR:972776 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d7376aa-b21e-4886-af38-5f7f92c8eafd CLINVAR:972776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 089ac580-466c-45ad-80de-19e25625c200 CA1139770963 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08a7d030-d00b-4714-84e9-631ce32b67c5 CLINVAR:7953 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8aa65ce2-ed1f-4a60-a128-16ae811475ec CLINVAR:7953 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 223c2a69-5a13-4f73-9bb6-a7005446b699 CA343724143 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d285942e-f255-4f38-834e-de16ee68a272 CA343724143 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 107a35ad-a7c3-4037-b42f-722b6eda7b75 CA343725177 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1338d9e9-ce91-40d1-899f-12e1e8843daf CA343725177 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae89be4a-c0ff-49e2-a136-4acca12bcd3a CA343725131 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5939a575-3167-4767-97d1-b8b633547e73 CA343725131 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54bc5b4d-e7c1-4231-befa-20cd47a03f1c CA2017997725 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e37168d-68d9-4546-99a3-4af3ba3464e0 CA2017997725 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b556a84-19e8-4b0b-b5b8-fc0a49161d54 CLINVAR:875033 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f79cdb3f-4625-4545-a7a7-2e19fee9e3ba CLINVAR:875033 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8227710f-ec57-4df8-9b7f-7c8a983a8f5e CA2573130348 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e573360d-c6d2-45d8-8e60-9206b6d2c078 CA2573130348 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd2b8ac6-ac09-4726-9ffc-698657b8bd86 CA343723562 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 95af3193-1628-4219-a144-9652f082f94b CA343723562 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09d7c408-7921-4c23-8ece-ef7e91bebcea CA343724581 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 332030b6-f998-4f31-91bb-1e367c785a03 CA343724581 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 215f5974-a7e6-4f85-9a7b-97e26db68e39 CLINVAR:293722 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae329623-0a4a-49d8-bd4d-ecbd2ef33fc3 CLINVAR:293722 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ec3b17a-5545-47a1-9b9f-4d70760d607d CLINVAR:293720 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 852de919-e9d1-4150-b9dc-4592d7645f62 CLINVAR:293720 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 948520b9-ec7a-47db-91d2-0e899a391a81 CLINVAR:293719 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71a644d8-1749-4bcb-a45c-a7c8b3b40f22 CLINVAR:293719 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83527dcc-5577-4bf8-ac14-fe3c998e2720 CLINVAR:875954 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f048b2c7-e174-4ded-b01d-de8abe93f817 CLINVAR:875954 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c14d3137-3a22-49d0-b841-564e7318e08a CLINVAR:293721 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4bd0dcc9-acd0-4e23-813c-28ba5f4f5e73 CLINVAR:293721 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a09bd6-c896-472f-ba35-1d4854c1375e CLINVAR:876999 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e91a4112-c878-4dd5-96e3-29106ca80e99 CLINVAR:876999 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 563e56d3-f70e-4123-b0f4-3bf937cd58c3 CLINVAR:293714 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e0373b8-eb2a-425c-a7fc-4f6fde26f1a3 CLINVAR:293714 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07dbbf53-4d12-404c-9cdd-9bd5acf3b656 CLINVAR:252960 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen baa11a7c-bf95-4c44-a878-07f57ae75775 CLINVAR:252960 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c7293b-634a-4986-9752-e40a380eedc8 CLINVAR:293713 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48082a7f-3791-41d6-83b9-ac9611015bf1 CLINVAR:293713 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03a5bee5-e657-4074-a547-60af18d77efa CLINVAR:242274 biolink:genetically_associated_with MONDO:0020367 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc486d4a-a07d-4c74-a67d-d9c87d4422ec CLINVAR:242274 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4061f297-5663-4d11-80a6-2a4d74dfeed2 CLINVAR:1324770 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 053d0581-7ed9-4adb-aea6-be9dd96b61ec CLINVAR:1324770 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c230dc9-d46a-4bb8-b3a9-5c36b905d9a0 CA343719128 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 476e4390-a774-424f-a03e-25b07b86fbb8 CA343719128 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2a3f4d6-8fd7-4a87-9027-a989c7813e9e CLINVAR:631579 biolink:genetically_associated_with MONDO:0007665 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c231bdb4-36a1-4540-a4ec-3636d2858455 CLINVAR:631579 biolink:is_sequence_variant_of HGNC:7610 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b27de833-0e67-4b56-b641-f2ca299289d9 CLINVAR:585908 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06cf7400-57aa-47fd-b564-531e987e68d4 CLINVAR:585908 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18fb43ed-2c50-4f51-b80d-7a43ea86fd1b CLINVAR:36176 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7476258b-e31e-44cd-af93-9b8cf2668f13 CLINVAR:36176 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e5d1875-3c74-4856-8feb-7be5fd2e2d78 CLINVAR:447425 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b309b64-56a6-452e-a87d-8b540b5b8192 CLINVAR:447425 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efd4c33c-f0ca-4db7-b2ae-6df424961738 CLINVAR:1802685 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 34ef3cd6-49d1-4c4a-aaa4-156765f6e3e2 CLINVAR:1802685 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea07d30e-7598-4e80-8d47-e350ee1a3bf7 CLINVAR:381598 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 483ed6d8-9bfb-48d9-8e61-791ed2ede9df CLINVAR:381598 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d054e0c-e900-477b-9d42-e16176f69069 CA367398947 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 561422bc-1343-4ccc-b737-c805bc44c7da CA367398947 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79ea8afb-cadc-4277-b441-58ecc927a0fd CA367398935 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d1ec3d1d-8935-45a2-913c-79d949427232 CA367398935 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2b033cf-e6c7-4652-8d61-ce7506c70362 CLINVAR:447379 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5b321402-6fc5-4666-9f67-7b294cb25514 CLINVAR:447379 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f8f8094-b7e0-4ba9-a95e-ec97e670c177 CLINVAR:129140 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 72a7a2ae-afe4-4057-a473-5330b554e972 CLINVAR:129140 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41724f19-ef79-4f8f-8dcd-015bcd2817c4 CLINVAR:617645 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5cfb3860-1015-48d4-9631-c91d87b5c0d5 CLINVAR:617645 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ce30b7-1f40-40b5-afb3-b4798b1dc999 CA367398869 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d5b7acb-0765-4d63-8efe-e5b052b8691a CA367398869 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 566f69d7-90a6-4e5a-9a33-47da09ad6ca4 CLINVAR:2578349 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 26366775-0310-419e-b209-2318562f78fa CLINVAR:2578349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57fbd74f-b42c-498a-92c2-7e8ddf65e913 CA367396716 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5d1246cb-c06f-47b2-834a-5dd2e1391e2f CA367396716 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25a2d118-c9d2-4e02-9d15-2dfaa0a94419 CA367396721 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e529efd3-29cd-4ef2-acd4-58382cc18ca1 CA367396721 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fc2129d-f9b6-48ff-bad8-6e49555ae872 CLINVAR:447423 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f79bac13-5cec-4a5c-b420-f63d47f303ec CLINVAR:447423 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b87c4df2-5e46-4733-947b-161c512149b0 CA367400134 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9035f2ab-0001-4b6a-b570-ce32747cf601 CA367400134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76441a1b-c1e7-4db5-b306-bb44171955a3 CLINVAR:1436793 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6745550d-d3e4-4e89-acc6-7439843811ac CLINVAR:1436793 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60febebc-a4f3-4757-a645-09d15870fc67 CLINVAR:16135 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3578bbe3-4205-4fe3-b3c0-2a81ba228cbd CLINVAR:16135 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dde8574-22f1-46b3-bcaf-1a97d1d1916a CA367400569 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen abb7bb88-757c-4b63-87ff-15dee0a1c566 CA367400569 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ed251a-40fa-415d-a15c-a3b4998fcb16 CLINVAR:447418 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d685214-94ac-4061-9e0e-7a2a819ebf35 CLINVAR:447418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de71987-e69d-4deb-bda7-8aa784697a9f CLINVAR:435302 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a70e8bd8-f5c8-4e5f-b05e-c237554fc5ea CLINVAR:435302 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da2ccb06-2297-43cb-91e0-dc0496153e39 CLINVAR:447417 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98a18783-6315-4542-b339-50778df91cc2 CLINVAR:447417 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8ce6abc-0382-407f-95f0-3499b8ad32b0 CA367400582 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c45aa408-d921-4648-a759-2604e43275aa CA367400582 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 608ed8a2-3963-4304-9a56-252ad595807e CLINVAR:36243 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e10c9199-4709-462c-ac8a-185b11d05529 CLINVAR:36243 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34a64323-7405-4107-8da0-45673b7b1a09 CA367401977 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 849260e4-9eed-4aa0-8dc1-714750b6cb2a CA367401977 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96f36deb-85a9-4700-b9dc-c88e433b40a0 CLINVAR:2428681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4fd83d8d-ca29-4b85-b194-22fe3b159665 CLINVAR:2428681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1483b5f3-32c6-44b6-bc23-a3b3dbcf08f9 CLINVAR:36209 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d12fe59-fd3d-4df7-9a2d-fd43d3bd90f1 CLINVAR:36209 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0420f277-4b7f-4883-ad1c-643e29bb5ebf CLINVAR:36204 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3419f866-876f-4958-8278-b0d5eebf2318 CLINVAR:36204 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b5366ce-a0fb-4861-9b84-e303ab574590 CLINVAR:585911 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6735c557-47d2-4c25-9cf6-02cb56120469 CLINVAR:585911 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3525f466-c377-4854-b74d-60bada66ca1d CA2497028745 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0746d1da-079e-48c8-a506-f2b1f1cd4857 CA2497028745 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85fe8e85-6072-4bf6-a85f-234d5f747726 CLINVAR:994902 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a369318d-b1f7-480e-b330-4972fae14130 CLINVAR:994902 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89e2355f-bc07-4ab3-8c60-fbbf9dcde6af CA2573106198 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd9df569-571e-4cd3-a845-b1dc1b65857a CA2573106198 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3354cd4f-43cc-4494-92b5-34ae71fe119e CA409106116 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e1bc16d-22eb-4b3a-96ae-0ae0acd57127 CA409106116 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09c3686d-9cc0-484c-bbde-4bb80a81d386 CA409106207 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0153126e-50bc-4197-80ba-ebd102bb99a2 CA409106207 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09a0977e-30c8-4993-b0f6-daa9faa66f4e CLINVAR:1756327 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7f0f78bf-da21-456a-b151-738d26dac292 CLINVAR:1756327 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fe24379-98c0-4290-9e0f-7531d787cd68 CLINVAR:972818 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32ec739a-7e99-455c-a202-72b2ce4fc764 CLINVAR:972818 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0a1965b-ac82-44b2-9372-53bf5c09e68f CLINVAR:1675516 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0db170d-3b99-42be-bd43-e47d5fb330e6 CLINVAR:1675516 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b3784f8-cae5-4821-8c28-944ca73eb380 CLINVAR:751827 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1c3bd97-7d1b-4c13-bce0-5f48e595b7fa CLINVAR:751827 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88b45174-f90e-4b64-8455-8aea8b721116 CA915940958 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ba8f6d9-3236-4355-927a-5ae5116084a5 CA915940958 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3547d9c-ed8d-4f11-bfaa-aa7e6ff968f4 CLINVAR:323548 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef67168f-be7d-4fcd-b366-85908687904a CLINVAR:323548 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a0ad76d-7617-4a8c-add1-339a829fd446 CLINVAR:323560 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 449dbff5-9ea7-4ea8-a93d-1929e18b6fe8 CLINVAR:323560 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e070476-d387-42a0-8252-7cf59422b301 CA399801096 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 244c9859-3308-4d86-8fda-4486435932cb CA399801096 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b5f542f-17ad-491e-8f7f-53446aa64492 CLINVAR:888905 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b28399cb-aeb2-48bd-afb7-26140d40d18f CLINVAR:888905 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eb50387-3c86-4edb-9946-26f2a955df2a CLINVAR:323571 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab8d8021-7556-4e90-a765-2298d95af07a CLINVAR:323571 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 285030dd-b306-49a5-80bd-d1987610151f CA2573102981 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eec14104-1c47-4be5-ae22-05932032be27 CA409103809 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94d0ba47-b7ef-4bc9-b0fd-50d64c08e16c CA409103809 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4eeca6-a05d-44dc-9b68-87b7811fcb6d CLINVAR:422466 biolink:genetically_associated_with MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe4a1277-c323-49e0-b3ea-290a4b157582 CLINVAR:422466 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21850f16-ca3c-40df-a4e8-bd309297f3eb CA367403541 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f018d296-3898-46c7-8ec0-86c13410f1b5 CA367403541 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e61a146-62ee-4c30-b057-86bc6e3e3ff2 CLINVAR:393453 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 43a09074-78c5-48a5-b04c-f98bc4020edc CLINVAR:393453 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b219a2f-2190-41dc-b4c7-e9cf49b736f8 CLINVAR:419624 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19aa27f2-25c1-4a7b-839e-fc753cd8e359 CLINVAR:419624 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be7939bb-df4a-4fb3-be29-05222830f92c CA2573105963 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31ca160f-b278-4290-a5aa-7f09be6a2809 CA2573105963 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6a10755-fa86-4f3f-9c1f-42e5be0d2588 CLINVAR:447388 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9699c6d1-92fb-4bcc-85b7-bfbbeae2f3e7 CLINVAR:447388 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 359517c8-370d-40af-aed4-49c0d7e092aa CA367398536 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d400fb7e-d679-4905-836c-d3995f9b0840 CA367398536 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 780d0a22-cd89-414f-be72-c48446b065bb CLINVAR:1301416 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f760d182-5ed9-4594-accb-3b1380df492d CLINVAR:1301416 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3298386-0084-4fc0-8aec-79bb5b50e555 CA2573051052 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e5bd6a1a-db40-47b2-ac91-2e2a05bb707a CA2573051052 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7068ed73-1002-4213-b175-7c93b98cf372 CLINVAR:36201 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 314daa0e-29a8-4b09-87a9-fbe8bd81cb4d CLINVAR:36201 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e66bffd8-2628-4e6b-b36c-252e1b363921 CA2573102980 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a05c85c-e4a1-4188-98f1-7103df06b8b3 CA2573102980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c523bd69-bc8a-4d94-a8c0-f9d64821f99b CLINVAR:1365679 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4617ca2-688b-4b62-a359-80b8405d2ede CLINVAR:1365679 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae667539-a4c2-44d7-923c-567c2fe561be CA2017997777 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f64666f-032c-4b8c-9880-646ef8ae9fb1 CA2017997777 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5123a06a-59a3-4732-98b0-c71b417dc17e CLINVAR:585915 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c54e2de-6952-45e0-a314-df86dacd86be CLINVAR:585915 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7624bdd3-76b7-406e-bd07-5df4d30d849a CLINVAR:1799350 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d98cc91-0a85-436b-9393-3d6dfc786652 CLINVAR:1799350 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d358bd5d-5061-4f18-b3a2-2f81b615e6bb CLINVAR:289356 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c121c25-3c15-4394-8116-6ec66f2e0470 CLINVAR:289356 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc13c682-8fab-4c9b-9bd4-e7630f49e37f CLINVAR:286228 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 804b4a9f-15b0-4ab6-a8bf-3704793838bd CLINVAR:286228 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eed6f2d5-b101-42b4-9bd2-494859ea2606 CA400025655 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c58d91ac-62bc-4786-974c-90a1e2ac60ac CA400025655 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d0d47e08-3b2c-4ae6-9a55-93564a9ca581 CA915940789 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 575f0833-3d65-4664-a806-fb81177c422c CA915940789 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3c6ab7d-8912-467d-9c08-6b91f797a9a6 CA367397019 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 755ec199-566e-4b9a-9207-4fd39dcefad7 CA367397019 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b18185c-6c83-4bb9-91f8-3be1ebe284dd CA2573106066 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20cde078-c223-4425-abf5-b529850bad67 CA2573106066 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 191d9241-18e0-4bfe-9398-f3b205bf6fa0 CLINVAR:1769182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9094730-783f-40aa-994c-1ec91b2b2fc5 CLINVAR:1769182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0033ec4-3c0a-47b2-8cae-c67dc1eca0bc CA367398252 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7288576-df23-4f16-8c97-6750db282ef8 CA367398252 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed07772e-485a-4ba7-ac6d-15e7c8cbc53a CLINVAR:995102 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 605d5034-50bd-47d2-b4ac-0743095941a7 CLINVAR:995102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad5ddc7-2916-4c07-b6de-d7abfcf2bc44 CA4239418 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60068c5e-950a-4969-9c36-36d2ea8b504f CA4239418 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb9a85e1-bf9b-402c-bb22-0ee2bd6c006e CLINVAR:447383 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c6507ad8-5cde-4156-9e96-1cd79f4881f5 CLINVAR:447383 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41697c8c-e864-4bd2-9ee5-e75125608665 CLINVAR:617652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8a10ce38-411d-4935-b382-ef4b02061a70 CLINVAR:617652 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b616f7d-2d56-4315-9512-628be8e4cfb4 CA315411422 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7aa36f4f-c9f0-4452-8ed5-ea7603d446ab CA315411422 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3204b6c2-510c-4a18-8eb7-0d1605fe1a1a CLINVAR:1098819 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19230e61-392c-4d86-be82-5e4cdc52fba4 CLINVAR:1098819 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cad2026f-2774-4542-a7e8-473c67853c0c CLINVAR:1299752 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e55a5c1e-6d38-42a5-b25f-5695e802a490 CLINVAR:1299752 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba298723-2786-4e57-ad6e-78ebd2a09b9a CA386966083 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8fb73a6d-1bef-4802-b167-2c9fa27284f1 CA386966083 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f7db52-75c9-4cdf-a479-7d3d9e2d8b35 CA386966081 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9875ff99-cc13-4d64-962f-c9d25ddd341b CA386966081 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8eed465-dcb8-4a6a-89b8-b3901d3a98e6 CLINVAR:2581122 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59f6065a-9b64-4784-9ca1-918fa9e7ebc5 CLINVAR:2581122 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b3f2bb1-90e0-4c2b-89bb-a5cb0b77cfff CA386959080 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a758c7e0-f8ba-4d80-bdf8-d16878bb4029 CA386959080 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5745642f-995f-4561-bad6-b6aa8b131e1c CA2580610925 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fd6b43c-1615-45bb-aed8-5fa2071a2763 CA2580610925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a122ad42-5a66-4546-bcb8-d34f10dcb47c CLINVAR:36185 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06e7ea46-221d-44ab-99f7-86be9b74fa0d CLINVAR:36185 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13ca3948-57fe-4c6a-9512-28952ff4dce2 CA367398753 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4fcc35f9-573e-45bf-bca1-7944e8c0b684 CA367398753 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c62cf79c-3be6-4938-b0aa-6e86fa9c4ad6 CLINVAR:1727652 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af02f6b1-9d2b-447f-9eaa-c0eb056ba129 CLINVAR:1727652 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 833a4628-9be6-4d6c-a708-289b702e24d7 CLINVAR:435310 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 862edb44-9194-4b97-b763-0f00c64f8530 CLINVAR:435310 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83194eb9-c252-4c6b-9b5a-dc6ec6b8c071 CA367400478 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11804379-a526-4d55-a9e7-209a9702ab95 CA367400478 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e756d7a9-e1ea-4c77-a9d0-37395e99cc2f CLINVAR:585927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e687081e-0862-4d4d-9c86-1074267d7526 CLINVAR:585927 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52e6199-9572-40a3-9881-4c39939e2ff6 CLINVAR:323566 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21bf9ead-9ab2-42cb-a646-6b355d34a407 CLINVAR:323566 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34111595-5ec5-4440-8459-20c1b856d367 CLINVAR:890600 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b140ae6-a617-4654-b3fd-63e04dea1374 CLINVAR:890600 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd9719a6-5ae8-4dfe-92ab-a29efe050dd0 CA915940646 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb811746-c908-416f-ad7c-f7c2b8a7dbdb CA915940646 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd9bc745-31c6-4844-8dae-1f549467a109 CLINVAR:890135 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d856c026-9a8d-4744-8d8c-e09371c9e070 CLINVAR:890135 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 957fd3c1-4783-47d4-aa58-63a0431169af CA399804774 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 630045b1-d2b6-45ae-bfe9-9231f9a805ad CA399804774 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dec1f53-3e92-49bf-ae74-c0178dce0847 CLINVAR:872751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 927a2b60-e90c-430f-a7f9-7b132258a57d CLINVAR:872751 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 673b13fe-04fb-4329-98c3-a46976144ca6 CLINVAR:142905 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed1bb6c0-eaed-4fbb-be3b-c0eefdc28ffa CLINVAR:142905 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02111108-57d1-4b3b-b4e5-975f929d42e8 CLINVAR:239915 biolink:associated_with_increased_likelihood_of MONDO:0100488 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c92fadb-abca-41c4-8757-9d1a2350dcc4 CLINVAR:239915 biolink:is_sequence_variant_of HGNC:1748 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9492b06a-9f4b-460f-aad0-6f007d0e7698 CA409104369 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a44fd1d3-47f3-4f67-889e-ab5d89f49838 CA409104369 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8bc31d5-5a85-4106-802b-7e777b31d059 CLINVAR:427034 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0404572c-0318-4ec0-9ab0-d1fca09ea19b CLINVAR:427034 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb53519d-a53b-491a-9005-8c273cd41dbc CLINVAR:18019 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4dd78f56-b089-41b9-89e8-acbcc752de50 CLINVAR:18019 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df2d18d-2eee-453c-8d2e-4df72ad14781 CLINVAR:627228 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd4735e9-35b0-4d7b-899a-7fd265b683d1 CLINVAR:627228 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9db71c97-056d-4a78-8702-89c9e5ee58ba CA1139771046 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e249c9d-02e6-4a7b-a587-434797395171 CA1139771046 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ef1b426-56c4-46e2-94fe-c1ecc2a36f99 CLINVAR:18042 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 430d1067-0b4c-462c-8648-d077b9dfe75f CLINVAR:18042 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a970d7e-f451-4354-a913-6799a1983d9f CLINVAR:18014 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4e40f2f-a450-4167-aed6-60b7cdda345a CLINVAR:18014 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49d6613-a575-4771-8605-52732e33725a CLINVAR:18034 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06c00d41-f3a0-4f26-9f0b-60d134828217 CLINVAR:18034 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 093fecfc-69ac-4e78-917a-7a7b6606d8c8 CLINVAR:627161 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 99646ff8-6437-4768-b065-153115d39a57 CLINVAR:627161 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4765fd60-4f75-4229-bd56-f75dfecaa327 CA343774795 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1e7f3e5-3c60-4d3a-9683-865a052ace89 CA343774795 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 784765f0-28c4-42fd-9a97-5bccb07a1ba3 CLINVAR:410384 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b90dd1c0-3bd5-4156-b5aa-cae804105e93 CLINVAR:410384 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39844f72-aca2-4686-9dc1-ea494d1a1aad CA1670972946 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5716fa9-481a-4b22-b7c0-9fc426e817f0 CA1670972946 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e4b45b7-9615-4a3b-9134-d152daefd7f0 CLINVAR:18011 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5a8257e-560c-43ef-89b5-5c570107449c CLINVAR:18011 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0b8f298-cbb3-4951-8f3d-6a1e58208cda CLINVAR:447399 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa1721e3-8e91-4e7f-a4f9-620871a75048 CLINVAR:447399 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fda30f5e-7a46-4037-9642-3cf7b4dea444 CA367401964 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b3fae33c-69a4-4909-a1cb-5bfbe3670d00 CA367401964 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1f9452b-4ec4-4ce2-a30c-04ec949500ef CA367401896 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89ff4b73-96d8-49c6-a190-909e7e1d311f CA367401896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d356d893-8487-4880-bb4e-44f357778cdf CA367398808 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 797252c0-0663-4529-bfd1-bc1aa8c314e5 CA367398808 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a94a815-7be6-46a0-b607-e6a6fbd69137 CLINVAR:447420 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 956775ff-afa0-4522-b3a9-9ff51e923508 CLINVAR:447420 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9415ff4d-1c9d-4478-a180-51bc9ee0f7e5 CLINVAR:43519 biolink:associated_with_increased_likelihood_of MONDO:0010134 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a13cd3ef-043b-4660-a9a8-cdaecee16ea7 CLINVAR:43519 biolink:is_sequence_variant_of HGNC:8818 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de4ba7dd-efeb-432e-8551-d6189eaa354b CLINVAR:37404 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 539fc01c-2a5a-4eb6-baaa-c376818675b2 CLINVAR:37404 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f1a4afc-9909-41af-8d3b-d3c6746e7b9d CLINVAR:17662 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5c09e9e-e3cf-4e74-9cdd-d11f303d4a8a CLINVAR:17662 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ce62e03-d473-4fca-ab5f-e3e7840770d9 CLINVAR:52430 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ed0fcc9-9777-40a6-9834-9b0e00ab7eb4 CLINVAR:52430 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bdcca65-1bba-4353-a499-b3aa2c4b0c55 CLINVAR:37635 biolink:associated_with_increased_likelihood_of MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69585e72-ebd5-4cf8-b35b-c6a29794b91a CLINVAR:37635 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88cdf337-61bc-46de-b5b0-8e59418e3e58 CLINVAR:55451 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91af2b29-c2cd-449e-a32b-0e7a8c5efab6 CLINVAR:55451 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ae8475-00c3-46b9-84c7-43e1a7b434c3 CLINVAR:38132 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5ee400d0-5d3d-4de4-bf98-a3cbb671bd04 CLINVAR:38132 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d36eb69-28b8-41e4-b9e1-60eea62660d7 CLINVAR:246362 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2efb1ca3-f5c9-497a-b291-ecdbce72da78 CLINVAR:246362 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 237809a3-9048-423b-bd72-836297e5268c CLINVAR:52475 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ca70426-7106-4762-a70f-56892b5debaf CLINVAR:52475 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff1ed89b-cbe8-4575-8413-949bb1d85635 CLINVAR:54400 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24714772-f664-4718-a7cd-b8a3d4404eaa CLINVAR:54400 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d506135-72ee-471d-8d56-342d0cc9f303 CLINVAR:54467 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f18bf3ba-effd-48cf-85ab-13e4e35b38d1 CLINVAR:54467 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f508b468-eac1-44ed-901a-4d27fe1db492 CLINVAR:267530 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c34a46a-c7f2-4f66-9f36-26f95727091c CLINVAR:267530 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ab939e4-697c-4fe0-90ac-f814bb6bff5a CLINVAR:55374 biolink:genetically_associated_with MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e26c6d04-a119-4ca7-8a32-b065f786129f CLINVAR:55374 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d011f5e7-7301-4642-9ce4-f8864dc13adb CLINVAR:431973 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d41c28a6-ee51-4577-9b48-a4790e21348a CLINVAR:431973 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07b90ab2-5c9d-4373-ac9e-22a4afc95be2 CLINVAR:55392 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen deef0808-8da6-40c9-a76b-9d22d66c710f CLINVAR:55392 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9d1d584-9122-4a00-98e5-ee1c560108d7 CLINVAR:267601 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 549dcb5b-29c2-4c5e-80a9-ac6b38f6859e CLINVAR:267601 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e9646c4-057b-4bc6-9447-6cda4ed3c040 CLINVAR:55607 biolink:causes MONDO:0011450 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 395676fa-b8a9-4fcc-85b4-28e4e4475419 CLINVAR:55607 biolink:is_sequence_variant_of HGNC:1100 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 471bc03b-b865-4887-8ffe-9d5ba72a8c8f CLINVAR:9325 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 38cc2086-a97e-408a-b388-b354adaa94dc CLINVAR:9325 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 408ce58e-ba7c-4f98-939a-289e5ff98641 CLINVAR:219896 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 91c6042b-7012-455b-b601-88a04c672fbf CLINVAR:219896 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71bc42d8-48e4-4e48-89ef-a964a65a7d54 CLINVAR:52516 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6aa6495c-711c-4c02-8f87-dc4f3fc68a50 CLINVAR:52516 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63ad4650-83d1-4f5f-b501-4d3db1fbe805 CLINVAR:38215 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 39f8be08-396a-4a14-891d-3863120f172b CLINVAR:38215 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 916b4fd6-2bf8-4964-835f-e50574726501 CLINVAR:126203 biolink:causes MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b397eb2-49f4-4f32-949b-6262f093d70c CLINVAR:126203 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0044350-7298-4fa2-86e3-a46e09a9478c CLINVAR:38260 biolink:associated_with_increased_likelihood_of MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen be8d5eeb-801e-4db0-ab9c-8cd033c0c59b CLINVAR:38260 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d22b1b3c-1f63-4a22-8bd3-4bf4c22e8fa9 CLINVAR:52919 biolink:genetically_associated_with MONDO:0012933 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e5d59ad4-7a54-4665-bc70-b791d6fd96b1 CLINVAR:52919 biolink:is_sequence_variant_of HGNC:1101 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebc5dbdb-ba06-4dd2-aa95-fa90c07c3eb9 CLINVAR:284886 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91380c80-0e67-4ef5-b5e7-5df71f7b4dfb CLINVAR:284886 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a27c726f-db01-4bae-8953-2d99654f1358 CLINVAR:546808 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 663424be-d45d-432f-9da9-a26eef32f972 CLINVAR:546808 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f8a5212-d327-4d05-8f2b-682367dc2988 CA367400479 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ab2fe6b-90f5-4f33-872c-7b82875aaded CA367400479 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20c87bfc-4c46-4920-a578-3174e3946ce4 CA16020951 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6e55ec41-ae9d-4b56-80c9-94f8b4faf0bf CA16020951 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a92f8911-dc2b-4aff-a51e-d9be232b4636 CLINVAR:102717 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d05b3e0a-f321-477b-aa6e-fe1fbc1a692e CLINVAR:102717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07af9255-f3d9-428c-99dc-179bc0a9f9f8 CA16020824 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8e5fe8c-d6ff-4e7a-a21a-7c39577160ef CA16020824 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f71fc60-9646-4e5b-be3c-0ef3d55d3c86 CLINVAR:556660 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6bd54794-32a1-465d-a842-02c806ee151e CLINVAR:556660 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebe40c5e-da9f-4c84-bd52-3a71cddcc557 CA16020767 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0576c64-9be1-4569-a7e6-bd0e51568ad4 CA16020767 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dbff9203-a234-41da-bcee-31dc1aef8928 CLINVAR:21078 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e780e204-710f-472e-80d7-e1d2c2e05091 CLINVAR:21078 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6e49e8e-84d4-4313-adc0-fb8cc049ad4c CA16020835 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25373ed1-173d-4d11-84d8-0411fd6e18b2 CA16020835 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b34f961-3fde-4b65-b8b7-9462e8d249ca CA16020974 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b233390c-3cf9-4d0f-94de-d5b9a8cdffcc CA16020974 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f20a659-aa5b-4c6a-93b3-8b6bfd1229e9 CA16020726 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd5b32d6-a447-43d7-a73d-e03e4885445c CA16020726 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed539fc7-f7cf-4316-a4db-93ac30007eab CA367400776 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2bd61c17-47d9-4f40-9502-590e1c2e3e40 CA367400776 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56410d75-6bad-49ca-b2c5-500679517f46 CLINVAR:36244 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 991ccc74-c3a9-40e0-b432-c203e1449de7 CLINVAR:36244 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bfccf18-2596-48ad-8e30-1ef940b28fbd CLINVAR:1172896 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a9ec7f1-5e8d-42d6-ac7f-45f469690aa8 CLINVAR:1172896 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cda28088-6875-452e-a9b8-16d1eaf66173 CLINVAR:102532 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b63832fe-a822-43e2-bf4e-b105079a559c CLINVAR:102532 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9435917a-6e0c-4089-b76b-ab4c4d5c93b8 CA16020918 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c56dc69f-4623-443a-8647-ef13f0589917 CA16020918 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21a3a7b5-cfe1-46c6-bf33-d59115fa02a9 CLINVAR:102635 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17d2beb9-07e8-4529-b243-1bba89eaea07 CLINVAR:102635 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43126aa7-e3d2-4a12-8680-87154be39b55 CLINVAR:495789 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0daf8ce-e787-4905-931d-709e62058848 CLINVAR:495789 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb47a5cb-b49e-4b76-bfb0-489680b58c79 CA16020717 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a79ae7e-e457-4cab-8e22-5c86cf448a49 CA16020717 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26029ab5-8bd9-4c22-bf5c-d64050eec489 CLINVAR:102848 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46757fe7-4c41-4542-95e4-efc85cb2890e CLINVAR:102848 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6674c1b-71e1-447e-aa1f-01c4f21e44ed CLINVAR:558132 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e22a5068-b4d7-469c-b65c-87d1b8dbb80d CLINVAR:558132 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4347ce2d-e5b8-4610-926e-1b020360fee4 CLINVAR:102867 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 586948d9-5273-44d1-8819-c9c2071bc1b3 CLINVAR:102867 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb2da16-f519-47f9-8f9c-97a24c8ceddd CLINVAR:102500 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15a4e492-1567-448e-b16e-804be2e2239c CLINVAR:102500 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14d4a72f-2baf-4a70-9a12-f6a1d7396d0d CA16020799 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91dc4cab-93af-429c-8d7a-e91ead515ff5 CA16020799 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f36c736-6dae-489b-9e24-b27e83bfff50 CLINVAR:536543 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen be96eaac-04c9-49ea-ac4f-41a8d4f5d7a4 CLINVAR:536543 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e92559-8bc6-4b94-8884-855edc46cb79 CLINVAR:536558 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 909b129f-f69b-4598-a815-eef34b6a6993 CLINVAR:536558 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6974dd8-5f55-4448-910a-14a9e0477e9f CLINVAR:323574 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d7fb639-f1b4-4bb2-96a0-17a7c174302d CLINVAR:323574 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a16cbfa-943f-4c37-a473-abdedc7ecd9c CA8603504 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c905e90-bc0e-4134-9324-f44101bace3e CA8603504 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 574f7605-1e4d-4db1-9cea-d3483b07c732 CLINVAR:1687232 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25434775-239a-4f18-bc4c-98a4c3797417 CLINVAR:1687232 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc66be45-d901-4c63-9036-39be6c23ae05 CA500273575 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a68db486-e2a2-48d5-aac5-1fa178d61803 CA500273575 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4445b3f0-a7ee-4f02-a8de-bf3e43920f64 CLINVAR:888826 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1486448c-400a-4bbc-924c-f38fe16c348f CLINVAR:888826 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 333f7fff-e9a2-49ad-9107-b444405e1d57 CA913184731 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e08a2542-6d01-4da3-82ff-71e3ee7cb9e0 CA913184731 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fbb55f3-d336-4214-ad03-f02f6187855a CLINVAR:888825 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ffb2043-b5dd-477e-b15f-3efcb87021fa CLINVAR:888825 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf554ca3-3817-4130-850d-acc330450c1c CLINVAR:888824 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a1fb6407-c318-420b-8794-86e6bacc1d4d CLINVAR:888824 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d01f6775-90cf-4b8f-8c6a-14620f86962f CLINVAR:428195 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b76084ab-78e3-41b7-a6d8-82b47cc51631 CLINVAR:428195 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f58437ae-ece3-420b-ba26-5069e3e2f94a CLINVAR:1334551 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d57d894-fe0c-40b2-80ba-9475424dcaa4 CLINVAR:1334551 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3451a42-f322-4821-809a-adfb14a066c4 CLINVAR:189400 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6c94b2c1-1ea5-4e30-ab6e-8d3024c6faac CLINVAR:189400 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1409a697-1656-4b80-ad78-e1bba2dfda6e CLINVAR:486972 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a38b23f7-cf26-4f8e-88c9-d2ed08170a9f CLINVAR:486972 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43000edc-8de0-42a7-acde-ec9e064b44d1 CLINVAR:818421 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c32b98ff-664f-40ac-a85a-6cd04efce963 CLINVAR:818421 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f90f15ae-d834-4625-9e01-a26abb7a2d2d CLINVAR:184277 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47a20bcf-859a-4c6c-a23f-858407349046 CLINVAR:184277 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 990ef3ff-7b0a-4ec6-b46a-50fc81b2e160 CLINVAR:1704153 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 011adb5c-95bd-4a0a-b629-ffcbd88ec809 CLINVAR:1704153 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e58b4306-499a-485a-ace6-8292b94ff097 CLINVAR:1320976 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8927fb1-8d54-4c61-82f2-443cf7e03aae CLINVAR:1320976 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df4ca68b-278b-41ba-a00d-7b2296873fa4 CLINVAR:427589 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76113679-bae6-4696-9371-366d7e7b7e44 CLINVAR:427589 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0465383d-4b12-4b45-8de9-d14043d86a5b CLINVAR:428243 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58f86843-a081-46c9-8f45-973a10a1a70b CLINVAR:428243 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09fcae31-3804-47f2-a43b-1a65c49c0375 CLINVAR:280724 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 949dd14c-6ee9-4a5e-94ba-f4397d26ae81 CLINVAR:280724 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 592ea8c3-8834-48ca-a1c4-e08afce63fc1 CLINVAR:943637 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf1957ca-2d9a-4481-a1d1-eb6bef0ca641 CLINVAR:943637 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7907596f-1e7d-46a5-a326-3635d534448c CLINVAR:428266 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 106affb0-4c69-41ec-a93e-bde4fefdee24 CLINVAR:428266 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cea94fb-bf00-420b-aede-0f4fb833ebf3 CLINVAR:233456 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4cf63f7-487c-459f-8577-d926f298b7c2 CLINVAR:233456 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bd4e32b-e3b7-46ed-b398-2317c5a8c3eb CLINVAR:393451 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11a7d130-bea6-4066-8072-2cbd2543e6ff CLINVAR:393451 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77d5412b-7841-4c7f-b0c7-104d8d2c4135 CLINVAR:435311 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e9dec22-993a-4966-8622-45f8109d4d6c CLINVAR:435311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75856963-747f-46b3-9684-2df8893ebf27 CA16020760 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 14b761bd-8215-4b34-afb4-f1fd2f538dc6 CA16020760 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 707f0981-1f1d-426c-843c-98d0b374793c CLINVAR:211073 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0005be97-2cfa-46fe-8f0e-2ab17aed7dbf CLINVAR:211073 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f10d48e0-8dc5-48dc-98a3-707d9956d367 CLINVAR:555864 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8c85e5f9-6432-4314-8561-6e1fd99af9d5 CLINVAR:555864 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fa41be9-b6fd-4c19-ad57-eb6008940e71 CLINVAR:4024 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9928766b-d33b-43e0-8230-6a435a409c67 CLINVAR:4024 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be61e3cb-fe28-473f-893e-357fd334b316 CLINVAR:290225 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53ba9c4e-3ace-4287-9e7b-b060646695a2 CLINVAR:290225 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eab87ec-1f88-4161-b2b0-d8818a2ed7c5 CLINVAR:189007 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b0a1c8d-68b1-43ec-b236-144940f64454 CLINVAR:189007 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 357bbb9c-d586-434a-9079-18e3911fb207 CLINVAR:285366 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1345f219-df4d-4d51-9376-e10058cc8872 CLINVAR:285366 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91702067-d0f4-4a90-ab8a-c902049d73df CA915940648 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 682ce7b4-7aad-4a4f-9af0-7a8c06244638 CA915940648 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2cd89eb-ed99-4bfb-90fb-04ffb2bba4c0 CLINVAR:323546 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8dec210-81ce-48bf-a8bb-7d7dabea1dd2 CLINVAR:323546 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b48d85-f37c-4a2a-9b85-e59168672d95 CLINVAR:888827 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f79c756-86ea-419d-b244-3fd4a3f4a98c CLINVAR:888827 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4cb3cd0-38dd-4403-bb70-220d44ec5d08 CLINVAR:995104 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0043a49b-aa06-4abc-b060-a7c12250424b CLINVAR:995104 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24dde4ad-c51d-47d5-9592-49f74c53bf2e CLINVAR:995103 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d3df9ce9-ac29-4453-ac69-91389e156854 CLINVAR:995103 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb35517-2265-4bbe-ac40-e68a32510788 CA2573106065 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d88c7a1-f72a-46a9-b0d6-f8566c74351d CA2573106065 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 849d1b75-cb2b-4589-8760-5c2e9da382d3 CA1139771343 biolink:associated_with_increased_likelihood_of MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3ae6ffe-2e47-4222-84f7-c214ade0ebaa CA1139771343 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d21ff0c-2040-4718-91d7-35803b386ca5 CA367397333 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 40928e55-f31c-4441-bc02-61a3529c50c2 CA367397333 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64108655-ae00-4754-aed9-649be7caa3ad CLINVAR:447380 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6577476a-7a80-4b4f-8efe-b9d7e1fe7b24 CLINVAR:447380 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a609067-37ee-4693-8831-df4849929e66 CLINVAR:370043 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21485d70-a4cf-4a2a-9154-e86641acd7e5 CLINVAR:9717 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1df75f4-191d-468b-b131-25a43cd11dae CLINVAR:1026606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fb9720a-4f77-4a6a-a2e4-938059eded60 CLINVAR:1026606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27d737a7-9651-4fdf-9ee3-5019165844b7 CLINVAR:339811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0afabed-5bed-44e1-8382-0780199c3839 CLINVAR:339811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73cb5446-7a03-4332-8e65-d9625aaae1d1 CLINVAR:760913 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b71dce9-9e6b-4701-9388-a66902db33da CLINVAR:760913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dd4e05d-05a5-4931-bf3c-ff43d6037d97 CLINVAR:658195 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cee247be-65c0-487c-ad2f-6de496c59849 CLINVAR:658195 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff3622e8-8202-49ad-afba-48c5aaa9a823 CLINVAR:409809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0cf9fab2-46d6-4f86-b3a3-5d1961ddc3fb CLINVAR:409809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb4e7dc-0aa6-4165-96bb-7cee714f3487 CLINVAR:1118048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 820af077-c4d7-4ead-8731-6953c700331f CLINVAR:1118048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69ef24a9-b47b-4137-89a8-134b9f64a65e CLINVAR:1150822 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15d55312-bc15-4367-9c71-af28a00baeda CLINVAR:1150822 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51c999f2-4307-4802-bd6a-6a2699510b36 CLINVAR:961001 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4fe446fb-bd60-4eef-b769-9c2d6247dc11 CLINVAR:961001 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ee3cdda-eb3e-4c45-bcdf-ad717d78c811 CLINVAR:415829 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0eb23b55-325a-4eef-af7f-df535b77a62c CLINVAR:415829 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bd65367-2fae-4df1-92e5-a7048d814450 CLINVAR:464013 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b54b631-7f7b-4bfa-8327-8ee8a021c252 CLINVAR:464013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d66a576-9b9c-46a0-8eb3-bfd607d68f27 CLINVAR:532665 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cae67964-8704-47d4-bbc5-a1ad2f701ebd CLINVAR:532665 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 543c674c-ef2d-4cb3-be9a-74f7989782a2 CLINVAR:843240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06c21680-bc85-4ac9-9b38-0b0aeffa71e2 CLINVAR:843240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dacd432-5408-4ceb-be46-63393d710871 CLINVAR:858424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01fa8778-24b5-4c97-84b3-99bbdcde5132 CLINVAR:858424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 797414bb-49ae-4e2c-b532-e21c2b8b647f CLINVAR:896170 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9b1e558-d867-4ff1-8271-e84ab9172da8 CLINVAR:896170 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8992eb9-57d0-44f1-8e97-5195576a0275 CLINVAR:937756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d81356e7-3152-471d-87c8-50df8ca667ed CLINVAR:937756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a02b1ca2-b60c-4735-bde6-1454a8dc7a94 CLINVAR:946753 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b613d2e-2b73-4d22-b21b-09ba9429e4db CLINVAR:946753 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52089ade-548e-4d94-9844-b24c10edb58d CLINVAR:948058 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75fcbfd5-f34a-4689-a37c-97220783ddb8 CLINVAR:948058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c284f6ec-13a0-4045-bbe6-40db17122601 CLINVAR:956926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e58e5b4-5de7-430a-8208-abe6a2b4444a CLINVAR:956926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cd2b9f7-247e-4841-a413-e335362d4828 CLINVAR:961354 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 27544ecf-56fe-4abe-8e39-a2c2ec364522 CLINVAR:961354 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e724439-0833-4f28-aa02-9d9ba42f0ec3 CLINVAR:966436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3892d57c-cc3b-4ac8-9455-6ebb1281ac16 CLINVAR:966436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3de29194-6ff7-447d-bd0b-fcb69c345e85 CLINVAR:1002421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1930b03-1e3f-4b4a-8136-e9551a4dab6a CLINVAR:1002421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 116b2171-ba09-4b1e-855a-32274f3a8667 CLINVAR:1010850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bcbf17d8-a97d-431e-9a41-c2e9e5d5ab99 CLINVAR:1010850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52dc23fe-992c-4924-bc3c-7679718cdace CLINVAR:1021717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6cbe3fb4-3dfb-488c-b7ea-ea19686492ef CLINVAR:1021717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d9f8a57-1193-45df-9e30-5eb2725e3683 CLINVAR:1336352 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1e98124-0c1a-4a58-8ea7-e4c0aa8582d5 CLINVAR:1336352 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b99b00f-035b-4757-a948-a8661fb14abe CLINVAR:1378669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen deac50ee-8de1-4464-8d40-d708d7f476b7 CLINVAR:1378669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d146805-c457-41cf-bb8a-d8b382aa6404 CLINVAR:1439341 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 12314dbb-d091-4fb0-91df-a3854aaf92c4 CLINVAR:1439341 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 286697cf-7bc4-49be-b7c7-f884fde7c3cd CLINVAR:1465820 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3aa98ff6-73b6-4b67-8d1d-257ef4c62587 CLINVAR:1465820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34bf3446-bf0f-4e19-a0e9-28eee5ec23bf CLINVAR:1652693 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5bbb9ff-2967-40c3-9f02-f94e8c481652 CLINVAR:1652693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c28ba8d-7d67-4e9e-9bba-fd0c7e7756d6 CLINVAR:1704949 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb5e6a5a-9d25-4613-b158-713fe9e6d103 CLINVAR:1704949 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eccf129-9db1-435e-9552-80fc1688128d CLINVAR:1721570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75a96224-948c-4fb9-a122-e2f20f0cd983 CLINVAR:1721570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efbd8557-ff04-4620-8589-fd7c345d674f CLINVAR:2001260 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d72f5fa-34ba-429a-9a80-09396aa994c7 CLINVAR:2001260 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5bacf0a-41d5-47a3-bafc-511c921604ef CLINVAR:2060834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 401fc834-5639-4715-ab90-600d9123cfaa CLINVAR:2060834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bf48479-f07c-4a0c-911d-ac4a2ec9a4a7 CLINVAR:2061265 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 32e46028-95c1-49a6-a74a-43ff9aef5abb CLINVAR:2061265 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d547d7e3-a236-47bc-8bae-f7f0457483b1 CLINVAR:2073628 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b5fcfe7-1f41-4d73-ab25-684f619c2996 CLINVAR:2073628 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fe5a1c7-4f03-4eae-9337-84e9f37138a7 CLINVAR:2418762 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd0e7f2c-6c4d-415d-ba23-34d4b189532d CLINVAR:2418762 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56bba3a0-a80f-4e3a-8f26-568ed2bed6e4 CLINVAR:2422003 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8338dab3-7b40-4b3b-96e0-b7395388a778 CLINVAR:2422003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a788e20e-54e6-43d3-95c9-3b36c6937484 CLINVAR:1068986 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cb7a5865-2116-4094-b2d5-ad168ba0958d CLINVAR:1068986 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6725971a-d2d1-4e48-b8f4-89fe8719f1b1 CA367403551 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 01f98d52-5611-448d-b425-17dd90046f66 CA367403551 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 010b1d87-e49c-4d55-982f-dedc16910dd1 CA367402684 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a2d8a207-45c7-42a2-8732-ba2c1113e8b9 CA367402684 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ae524f7-6567-4a03-8125-11476ef3ff14 CA4239602 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 679deaeb-2047-4d0f-b414-9eb5f9ee5a6e CA4239602 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19648e78-b79e-47e1-b9ef-384243341854 CA367398804 biolink:causes MONDO:0007453 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a249b78-08c0-4c74-9e95-c7ce89256921 CA367398804 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72fedb65-89a0-4fb8-ab11-c258c7b2377c CA367402580 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b4ea2aa7-271c-4f93-a395-6679fa5fb1dc CA367402580 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de313064-190f-42b4-a72d-79f5334fe5ec CA367398628 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c565d36c-3577-4ea2-8a14-30eed4acb912 CA367398628 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6adad7f2-e797-496f-902f-6439f9667cc4 CLINVAR:1709730 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c174de36-a361-4890-b30d-11df391d2a82 CLINVAR:1709730 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16a9af43-62a3-4b8d-9415-3619c16ae61a CA367396980 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72d99f6b-063b-4ffe-9576-8b10424b80f9 CA367396980 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a485c9bf-4b87-45c4-a7d6-bb0b9ff69540 CLINVAR:432386 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e3fabfa-3c23-43e5-93c6-0841ca805d3f CLINVAR:432386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f321339f-16d8-4f7a-89d9-6ae986ba3006 CLINVAR:994613 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3272756a-abb9-45b1-bd68-fb3e7cfd536b CLINVAR:994613 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80246440-889a-476a-9e73-6d3ed0166021 CA367399681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9849a56d-5628-4381-8a7d-4c3308f90e4e CA367399681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f0e0fb5-64ff-43e3-859b-c3bf8a22cce8 CA367399678 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 199ac16c-c7ad-4bd7-badd-424c657eb77b CA367399678 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9bc30a1-b554-4646-a505-9812d71592da CA913189165 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a471a88-d172-4ebf-baeb-cc3d69222707 CA913189165 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d71621a-2ec5-4cc4-83a2-1c0d4e642b86 CA2580617739 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e254f5fa-63fd-4979-b67d-9325387ae6ec CA2580617739 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61a64963-a654-47a7-bddf-67d6b7d4e4dd CLINVAR:36239 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93a69b07-926e-4113-b893-fa92afe53600 CLINVAR:36239 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc7b7894-b59a-4f8e-bdce-5a0aca47a1b3 CLINVAR:36233 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a049e45-4d1d-4729-8c35-bc274bab410d CLINVAR:36233 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6306046-6c37-4301-b7ba-75473521233a CLINVAR:1490297 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d891e356-6ea5-4a17-9ba4-d0d139ef3fe4 CLINVAR:1490297 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86ac6fc5-367a-4931-b115-f340fe505fd5 CLINVAR:995372 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c818fc7a-49a8-44e4-a683-d1e7b96a1812 CLINVAR:995372 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b918f55c-04df-4caf-8e53-5a93d2fa100b CLINVAR:804856 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ef03821-f2d1-4e45-8a91-41ad3ab05d16 CLINVAR:804856 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 686d0dc0-c3c9-42e2-bf93-9c02dc66c273 CA367401545 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ee62b44-c5d9-4e71-9040-c409d38a865a CA367401545 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7bfc397-2590-4e74-9669-94ff7e6aa54d CLINVAR:198397 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8b1055e-f9f9-4b09-a0ed-c4c438582748 CLINVAR:198397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 545aa0cc-a135-4b77-8936-cd345fd520db CLINVAR:9212 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 57ef1944-4f06-41ac-be3a-53a81f6cc703 CLINVAR:9212 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5f3c93-a0ef-4f7e-a287-ddf9756c2003 CLINVAR:36190 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f182b9bf-e773-4c10-9319-1509614ab7f4 CLINVAR:36190 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f83f5e50-15c0-4417-91ea-4680322747f3 CLINVAR:1496579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70e45c6b-ded1-4b0d-a237-a749c6e23a41 CLINVAR:1496579 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a449f3fb-022a-43c0-9895-32c76cbabd3f CA367399833 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b718d461-60e0-4fe1-9e10-dcf06b26940c CA367399833 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4159b7e5-8b33-4ef9-8266-475fa4ccec5d CLINVAR:846588 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8fe4368b-3afe-4754-88bf-14ca71a4388f CLINVAR:846588 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6dca011-928b-4c24-8892-846db612e699 CLINVAR:1338446 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b4a8a6e6-3774-484c-92c1-ff297962ef43 CLINVAR:1338446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8490fb2c-073b-4e4d-9f0a-0e992e0dac56 CLINVAR:1746441 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c19c56b-3ae8-4394-8aef-4e2b6277caca CLINVAR:1746441 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d9df2f-3f85-468f-945d-59ab6f6ddb4e CA367400539 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cbdb816-99c8-41c4-b1c1-8ac5332e2016 CA367400539 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bf420d9-53b5-4e19-a785-5d7b607c9656 CA367400540 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7fd80ff1-5fe6-4a55-ab3a-a27078d96ba1 CA367400540 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f9bc6ca-1774-4e8c-a0c7-3a9131133f68 CLINVAR:995101 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d61bab1-d7d2-422c-b382-e3f4af7b5f17 CLINVAR:995101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2da62214-3544-4d9f-8168-f0c028637c5c CA409106102 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 207064bd-88de-44d1-ac90-31699817745f CA409106102 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fa47bde-b99d-4e87-a8cd-b646d6fed5a8 CA409106099 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00e4cd43-100e-4efa-ae7a-073f3f3bac79 CA409106099 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e66ea23-d560-444b-80c5-82917c712810 CLINVAR:456370 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d23908bc-54d5-42a9-a276-060b73eb44f1 CLINVAR:456370 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26d1cada-7afa-491f-87a6-7cc0d882e3ed CLINVAR:632823 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 90635f74-17b9-43dc-a80a-386286af507c CLINVAR:632823 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21e298b9-bf02-44d1-a44a-8707d41b02cb CLINVAR:289367 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a0ee689f-1b00-4b91-a68d-cc8d2826b9a9 CLINVAR:289367 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b6343d9-38a7-42d2-9ea6-877bbe664aed CLINVAR:2151633 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0dd7f09-857c-47b7-98bc-ae1c3bb70520 CLINVAR:2151633 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fa80c6e-4ece-4671-8c52-8be87e37a5f2 CLINVAR:555820 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 75c3e710-cddf-47fe-994d-82e56a757b4e CLINVAR:555820 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90e4f5ca-d407-4be4-b7ab-8fe9821a8ad9 CLINVAR:371622 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 891ffda6-2df5-4263-9282-471832aac217 CLINVAR:371622 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf53ada8-6237-4031-bf21-98ab2c48a0e6 CA367401747 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 739f065e-ab8f-457f-a6b4-883e31fe6879 CA367401747 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17d90c88-3ead-4b1e-9e7e-e472baff2ce6 CLINVAR:585921 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 88bb8e37-37d8-4c43-be87-3815a2c38a93 CLINVAR:585921 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1286b139-6ef3-4f58-b97a-e6bd5ffe54f2 CA367401907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe2e09fd-2e46-4b39-9c8b-e201a062a188 CA367401907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85148202-4d2d-44e0-929d-287bd1d66812 CLINVAR:585917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e80f957-8b71-4194-8176-7452a3cd8094 CLINVAR:585917 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86e52514-96c4-4d98-8c9f-bb91fd220c3d CA367403544 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29362560-1023-4b52-ac9d-dd23bca0d93e CA367403544 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d4ae893-9d6b-423f-995a-3541850264cb CA367358349 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c282329-930a-42c0-80e5-1ba6f62accb4 CA367358349 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 628e0ec8-9b1d-4038-af8f-11b3336ea631 CLINVAR:561231 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bea59bc-4c7d-48b8-adf3-224fe1974abf CLINVAR:561231 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b2c1aa-271e-4bd6-bc68-7aa55baac804 CLINVAR:1684431 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f1c9a70f-160e-429a-a372-9a505814cd4a CLINVAR:1684431 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25ce04ea-faa6-4e03-80e4-98c1e4542d97 CLINVAR:1706546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2194c38a-5373-41ef-8abb-0b6e5825a3f3 CLINVAR:1706546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf8a803-66d0-48fd-b1fb-2b44804eb3a4 CLINVAR:1073884 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a5ffc6e4-c2ac-4f55-9e19-3c9c200fe7f9 CLINVAR:1073884 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5ae918f-f9df-46c2-a441-0789d0ed5abb CLINVAR:945290 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dab8cdf0-ac8a-46c2-b2cf-d83032d168b9 CLINVAR:945290 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e40e54a6-ba41-4648-a3b2-7bd15359730a CLINVAR:988837 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e8075b5-8001-4005-84a5-fb421ef0624b CLINVAR:988837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f3f2a28-0f07-4c36-9e5e-37f4418371a9 CLINVAR:1074523 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86e483fc-25d9-4dd0-88c7-e8391d3e9fee CLINVAR:1074523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01d978b0-74a0-4559-9b17-cf7a78beb1aa CLINVAR:2123057 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8460975b-007d-491e-80e5-c047426a029c CLINVAR:2123057 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5be94e20-51da-4a72-985b-1f968c3de21d CLINVAR:647118 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94caf8ab-c1a9-42af-a822-a25123791ba3 CLINVAR:647118 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05dafdf1-bab3-459d-86b9-1aab198b2619 CLINVAR:1684407 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd090bff-1498-4a25-94ee-9373c1b14423 CLINVAR:1684407 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6339de5-037f-44d6-92b5-50ff5549c02d CLINVAR:1691247 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 58b7c915-1684-44a9-80d1-fe0d3d5c592b CLINVAR:1691247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde93e61-eaf0-470d-9d25-7c935550b68c CLINVAR:1691248 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec0fe382-d02c-4782-905c-2f3de4bbcc0a CLINVAR:1691248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4efaf6a-a441-4f8d-a46f-c926faaec2af CLINVAR:978818 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen df822a96-8061-4a47-9269-928664451080 CLINVAR:978818 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8055a676-cefe-470a-a7a8-d79c8b240ea1 CLINVAR:988416 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e9ca946-7184-40e9-9e64-dc740f552265 CLINVAR:988416 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a585e02-1c64-4ac2-8dd1-59486461572d CLINVAR:1013619 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5cf7bce-d1b2-40cb-824e-1c15ac83e8c1 CLINVAR:1013619 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cb758ea-25fc-4bdf-b1b3-c253583177b5 CLINVAR:1071785 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0b2c3df-6d12-4c77-b042-59c0746cde94 CLINVAR:1071785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf211775-fdc1-47cd-9844-8815b5a24c7d CLINVAR:1692643 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03788489-65b7-49aa-99bf-580dd42e3dcf CLINVAR:1692643 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a443251-8d67-45df-9d4c-3d7a57e6907d CLINVAR:417476 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 106ae4cb-4dcf-44f4-bf3d-43c24f9bdb52 CLINVAR:1460018 biolink:causes MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2fd51675-3c49-4f77-82e4-c5f620e5f516 CLINVAR:1460018 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62d754f1-ac48-4eb9-a861-f06bac43db9c CLINVAR:832666 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5558573c-82d8-4d0c-b4b5-0cfbfda1b8f9 CLINVAR:1073907 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7137c237-b3f6-4dee-8010-0b3e53fbf5b2 CLINVAR:1073907 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eca051a-9fa2-4b0e-8ec2-7b28babccc09 CLINVAR:833071 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9c452d64-ba63-483b-ab05-d1fa7dced610 CLINVAR:871175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5cbae9d1-2aa2-4d82-9511-46af66b03190 CLINVAR:871175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14ab254b-9613-43dd-89de-8f22b2a52616 CLINVAR:1065583 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b33b5653-6725-492b-bd04-c731f4a2718b CLINVAR:1065583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ca14cec-59b1-4f8e-84e8-e2296ccabcc9 CLINVAR:389962 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bc9d5a54-8730-444b-925d-8c4d0865a7f7 CLINVAR:389962 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91b300b7-242c-4a17-b2f3-7c3410da74b0 CLINVAR:1518631 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c14ffc3-c8c8-42ea-8595-478f5a4a27b5 CLINVAR:1518631 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87e9dfce-1349-4cc4-8894-e34c09df28a2 CLINVAR:988808 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 139cbf59-6a4b-46ac-8d91-0214897c8997 CLINVAR:988808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 856f9717-40b1-49b6-95f2-e8aadd5fb6af CLINVAR:561250 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69e5504f-2359-4ba3-838a-1b809232ae50 CLINVAR:561250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df2825bc-94b5-437d-8d88-8bb3f891fc9b CA410207975 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 179a5aa8-d301-4791-80e2-d54740406706 CA410207975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6929ce74-208f-4853-86ed-22d09351e197 CLINVAR:561251 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2b0ac17-8e8b-46d9-8e0f-79164e4384cf CLINVAR:561251 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c18d7475-026d-481f-bd3a-24efe8fce15d CA2573320718 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 300ed599-6d74-473d-bdcc-68446ac33013 CA2573320718 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed83f9f0-599d-445b-b542-4fe70ba0d4a9 CLINVAR:2011850 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 03b66485-d281-45dc-b693-0e47540029e7 CLINVAR:2011850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a06d5f3-6a6a-4322-8684-c7ea14061c71 CLINVAR:2003897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 85137bba-23ff-4b79-b5c6-1d208bfb2ce0 CLINVAR:2003897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d89d14f1-c56e-48eb-91af-a3d0e953da8e CLINVAR:2014537 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2b4ef94-8ce7-4c45-a223-591c27d1ab96 CLINVAR:2014537 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa0b73e4-bd38-4ea5-8e44-581d116f7543 CLINVAR:2504110 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6afcaef-0fc5-4bfc-8630-4b6630aa593d CLINVAR:2504110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b701a976-21e9-45ae-8f81-41044f005afe CLINVAR:561234 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd6dd027-2f4d-41b2-a8f8-5668064a54d2 CLINVAR:561234 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ef963f3-04d1-4eea-9b95-020606ec9f25 CLINVAR:1338536 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c286e960-798c-45f8-9688-443fcaf12e15 CLINVAR:1338536 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8586a9d2-d31f-44ba-92c0-89b624d4ee11 CLINVAR:2129871 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86138e99-c9bc-44c6-87e9-f4ff32c57e12 CLINVAR:2129871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 279a88f5-bc0b-4aa8-87c0-f4b4160c0349 CLINVAR:836448 biolink:associated_with_increased_likelihood_of MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89fcaea0-2af3-4585-8bbc-d45f5c2ef826 CLINVAR:836448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78deeb7d-84f7-47a9-bf2e-f856cb3c41cc CLINVAR:1996223 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41eca39c-1203-4ef1-a289-6650c4e254fb CLINVAR:1996223 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43e39924-8a5e-4b03-b11c-c528f6362fc5 CLINVAR:2177591 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e314bbcf-5b95-493f-b8f6-544db5c66d28 CLINVAR:2177591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0fe66f70-22fe-4bae-b6bc-6adab16d5d13 CLINVAR:1703793 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1c26767-a301-47a3-b123-d872db718467 CLINVAR:1703793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac2eba1-6201-444c-8b8b-d235cfa7aea8 CLINVAR:1349747 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 710fc84e-e55f-4ce8-962a-de0b6a9cb6bd CLINVAR:1349747 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b45f3d9-1038-4e6f-9b0d-83c4ab0d9f5e CLINVAR:812913 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15493b96-b09c-4fff-8a82-248faf3bf68a CLINVAR:1067688 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48c75b67-0b15-4be6-8daa-daabf63ef18f CLINVAR:627152 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 988b54c2-9ffb-4df3-b522-72482429dff3 CLINVAR:627152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a066d4-51ce-49fb-90f1-0260ab7360e7 CLINVAR:1074352 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 59f08155-22f0-425e-bb5a-baf25001e84f CLINVAR:1074352 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c6a72ea-d82d-4cda-924b-2fe1308799cf CLINVAR:1013200 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2e7b502b-7efa-40df-ad0d-4ccca28d4f58 CLINVAR:640550 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2db5ff6-b049-4128-b3cf-9172138daa40 CLINVAR:640550 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 371b110b-88e6-4152-8551-961c295f6fd8 CLINVAR:189402 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad46c818-17b9-4b65-871b-94c13e637ae9 CLINVAR:189402 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66bad8d7-4853-4456-b922-25ad9962ba3c CLINVAR:373446 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a67e6d9-3afe-454d-9ea1-04f68dda3a3d CLINVAR:373446 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9486fe1-3444-480a-8fe3-04a7198730ef CA367402681 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 83efd806-efe4-4a31-a9e6-06640812d664 CA367402681 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26a53fc5-4a12-4d92-85f5-2fda90dbc7b4 CLINVAR:585918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c6af8afe-f997-47a6-ae62-abfec1051b63 CLINVAR:585918 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f7476a0-a78e-44c7-b381-3fbb60565676 CA1703634895 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa82e5b0-1ff7-4f08-9ddd-6c5a8ba271b1 CA1703634895 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bf9e9db-fe87-49d0-a9dc-4ed53a90aeaf CA16621927 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b94770bf-f7fc-4996-8641-e8ca563f0e03 CA16621927 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cf8ab63-0d87-4e7b-90d3-55c90da20fec CLINVAR:280031 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 807ecdd9-b972-4619-b441-947e2bf0f5e4 CLINVAR:280031 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 092724f7-5a4d-4fe5-ad34-52a2385615ab CLINVAR:2073656 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0970a197-d150-4cce-82bc-3f869c9266c4 CLINVAR:2073656 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71929611-ac7c-4684-95f6-31e4c2af0b84 CLINVAR:450754 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a7411ee5-4778-4888-9564-ec9b2be20053 CLINVAR:450754 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34a59fba-53e9-49e7-aa88-8fc601ea9d1b CLINVAR:890134 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e5f4b60-568b-450b-a34e-a537d6da0447 CLINVAR:890134 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 601cc151-8ec1-4be5-a238-34922208e228 CLINVAR:1684324 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2dc507e7-c5f4-42b9-8d1d-d1d84bee0b1a CLINVAR:1684324 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3d2516e-5ebb-4711-b6ef-5e045a46ded8 CLINVAR:1048589 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ee09659-7979-4b9f-a8d3-4ed3c1a49bfb CLINVAR:1048589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e71ebc6e-e6d0-4e65-a970-6e6909bb9558 CLINVAR:1348299 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ba8d5fc-af3a-4698-9661-70133135049a CLINVAR:1348299 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f98768db-f73f-4e7f-b87d-503af0d0d3d3 CLINVAR:456402 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c271c368-93ed-4968-bfbf-9a20c9541fc2 CLINVAR:456402 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 861ef363-7577-4ab8-9520-d3cee6c162f8 CLINVAR:593593 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8327805b-4041-4c2d-9684-6823df811e93 CLINVAR:593593 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64e1e3ea-166b-4726-89e5-92175c6e9450 CLINVAR:664582 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55f92c9e-5879-4715-a0fa-f62f47794d59 CLINVAR:664582 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47cd1fed-86c5-4d06-b53a-947287827426 CLINVAR:285589 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77242de2-4fe1-4867-b0ef-5f5fc3b042a7 CLINVAR:285589 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93b93ca0-660d-48e4-8772-61f617cf56c1 CLINVAR:510585 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0bff122-59c0-43c7-b684-1b1e5f78f5e7 CLINVAR:510585 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48a5d2d9-9e85-497b-9e90-0629e89721e8 CLINVAR:447518 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7091513b-bb73-49e7-9be0-19ba34c83a9c CLINVAR:447518 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f95e9e8-f82a-4e3f-ae2e-1963ef230db0 CLINVAR:972785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a340c157-9d82-409f-bd2f-1ef05c8067da CLINVAR:972785 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4fde6cea-0f53-4c16-b425-714c8e4236d7 CLINVAR:586019 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ce6a9f92-c89a-4627-97cd-43d8f1b2e021 CLINVAR:586019 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 921c07e0-c7bf-467e-a6f6-1574f4ee650d CLINVAR:133249 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a2ca24e2-e228-4365-adfd-df64ba2b3439 CLINVAR:133249 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd1ff77-6eaf-4206-b854-441e7c1a810f CLINVAR:102688 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3cf6d5d2-1f7b-43f0-a7a2-5cd0f6078da7 CLINVAR:102688 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 444c941f-4437-44f7-9ebc-7b5143c818a0 CLINVAR:188933 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1297e7c1-f7f8-4673-bf87-e9f42c3d9eaa CLINVAR:188933 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5d4e11b-aa7b-4713-a6e0-dac95ee95195 CA16020772 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3167c5df-c3db-4d3f-bfe5-62cee3e5b1e6 CA16020772 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb6e3b12-4173-4a4b-8593-221821447d86 CLINVAR:102639 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 70a785a0-b7a1-451a-bc79-c61bfac48fdf CLINVAR:102639 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 714dbd76-dcd4-4d93-b7c9-9ffd9811f50d CA16020833 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ca13b41f-a1d9-4c22-8d7f-e3d6f98dcc53 CA16020833 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6dad8cff-1577-4a7b-9bc8-0fe7c4ad42f2 CA10602335 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9519d43-fbb8-4960-8aae-f85f938698fb CA10602335 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e26ba30-63da-4755-9568-8d3fc63214c3 CLINVAR:1458264 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 09320e37-a8c8-4d34-ba5b-0ec19d59388a CLINVAR:1458264 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e2d0a0b-ea09-408e-99a4-815a7786e35f CLINVAR:102899 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b479660-5c9c-4e39-8953-41facfc93184 CLINVAR:102899 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c796c46a-f492-457d-9ed3-cd1b072fd876 CLINVAR:102896 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a746a769-4661-451e-9e3d-4a520f1a55e3 CLINVAR:102896 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05a79f06-1bd4-45be-bbb2-48a546890a6e CLINVAR:102586 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d44b5336-8be2-4fb5-92bd-ee25a4253e2e CLINVAR:102586 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbfbfcb4-bbe3-4240-bb05-da52a422a80a CLINVAR:102907 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b36c310-0264-487b-8c30-3d91a49b7de4 CLINVAR:102907 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ee7b758-e553-4c62-9dee-99dbb89bc2f4 CLINVAR:102904 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac1f8c82-04e2-46c7-a362-d5b2f135ddf9 CLINVAR:102904 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94ba9fba-f6f1-4e40-8b3d-1217b05480d7 CLINVAR:102912 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b591e39-9aed-43f7-b388-40374824a191 CLINVAR:102912 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4128e2a5-d070-4daa-b0b1-ddc87318acec CLINVAR:623 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ea6cdf69-9ba6-4793-b88e-184325fe78fa CLINVAR:623 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c4059bd-f1ac-47e6-9646-55473ea68ee1 CLINVAR:439226 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36e564c1-cc61-45c0-ab1a-a2f0cc136658 CLINVAR:439226 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f559d7-1679-4cb3-b2fa-8b6363649ddf CLINVAR:689636 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 309e1681-de8c-49db-885f-08f87a6d31e6 CLINVAR:689636 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62bbd517-10ca-427e-969c-9d57dc5d48f2 CA367396714 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47c0bb3a-e54a-4733-a751-20c3b3f33151 CA367396714 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 792dd12c-b0e5-46ad-b0ea-2de30e9b7f9a CA367403522 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d9df14a-774e-4f84-9840-9cb99a14b434 CA367403522 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d157bab3-dd34-44cd-b9b6-ed4ea70f0db4 CLINVAR:420070 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1415731-ac5c-4989-aa29-93a0ff9fb5f3 CLINVAR:420070 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0d675ff-cd70-4327-ad12-c0b93f380575 CLINVAR:129142 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c1deef3-1d60-4f9c-84ae-15959131d401 CLINVAR:129142 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd84ad96-a2ac-4388-b77a-2fbd02930cd1 CLINVAR:439709 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc6457aa-908d-4598-a2de-b07c9aa36b32 CLINVAR:439709 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cb81e18-1bcb-4598-9b76-3da307817d32 CLINVAR:1083041 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48b5768f-a361-4c9c-9fe1-45ffe30ae621 CLINVAR:1083041 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0de549a9-576d-4c0d-9079-1bbfbdb051ec CLINVAR:1125979 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0eec0a3a-5cfc-4531-af56-dfe222099499 CLINVAR:1125979 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe52f830-f0dc-429a-8cf3-cee44e4f1d96 CLINVAR:224133 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4806dd5-126b-482d-afc0-d1701f5ce97e CLINVAR:224133 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a22b6d5a-745c-4728-8e47-1e4d1dedf785 CLINVAR:502478 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce601caa-29b1-4c11-886d-0eb83c609959 CLINVAR:502478 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8a9234f-1494-4fac-8835-e1d3dbc16958 CLINVAR:932847 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a0d1caa5-269e-4528-af33-66d4172b1916 CLINVAR:932847 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c735aa05-fc56-4b8a-8856-b9f39d19e214 CA415087450 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9df7a312-4076-4ef2-ad3d-5a1bc6255012 CA415087450 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 007e8db7-cbe8-4f8d-bb42-c568192e8c71 CLINVAR:203574 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1118cef9-7234-4fe9-a70e-6e1949a6ce94 CLINVAR:203574 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930ff46f-6690-40dc-a15b-4120a81b95b1 CLINVAR:11698 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd0c66c7-8e7e-42e0-8904-708c40ea1909 CLINVAR:11698 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8335fe4b-bc5f-4811-9123-b26c81f51ef9 CLINVAR:429893 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1742f0c-1a92-4433-8760-4fd75a560e3d CLINVAR:429893 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b7af5d2e-1300-484b-b3e8-eae2349d2786 CLINVAR:421767 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4248752d-8c42-4218-a1e5-5f9b7a241870 CLINVAR:421767 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31d87d4d-c029-4a03-92e5-182d1b10e546 CLINVAR:1319163 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 242564d4-1046-4831-a779-f9b8692670f4 CLINVAR:1319163 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be5cb50d-b75c-4c07-8a28-20ba2902b456 CLINVAR:328352 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 91c7ea71-9d42-4a69-b1ba-f487d55597af CLINVAR:328352 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57cb8e38-b80c-4945-b4d2-af7875335c87 CLINVAR:16466 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c71df79-f110-415f-a861-386b67bc9d4d CLINVAR:16466 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20d5498a-1640-4686-8d7e-b03896e0c92e CLINVAR:155951 biolink:causes MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5811753f-354f-49a9-9d08-8da3a41580da CLINVAR:155951 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4902a164-ed52-4c4a-8c23-4a816486383d CA2579985999 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52ca1c34-2d3e-4b90-8663-5cb6e50d2344 CA2579985999 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03a4310-983f-4198-9700-ac086c7a2213 CLINVAR:956400 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ef28b2a3-4040-4426-ba85-a6a54dff4435 CLINVAR:956400 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fc2c19b-4c4f-4ad8-a2fe-c30f4028f080 CLINVAR:2412845 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d26a4a5c-ef2c-4dab-a05e-97fd62f62650 CLINVAR:2412845 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13bca505-f37a-475a-8460-bda4e33c6f37 CLINVAR:65692 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e1b83e6-d121-4e65-abae-a46eff4529c9 CLINVAR:65692 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56bd873e-2e11-4d44-895e-a9d0a8c53fc9 CLINVAR:932737 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5811e0fa-5e52-48bd-91fc-290de1fa1580 CLINVAR:932737 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5558aa6d-016a-4bc1-9e18-7d09d00b5ace CLINVAR:636961 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5a71fc15-3162-4193-88a0-dfcbcbdfdd93 CLINVAR:636961 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a8a9389-b795-4254-92a7-be23d13b24fb CLINVAR:867228 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5025733f-3f2b-467e-a695-1fa5649c1159 CLINVAR:867228 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78cf0310-6045-4277-856b-3e5a8b26a396 CLINVAR:858462 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec80eaaf-e7d6-4ca1-9cdb-bc9a42e69c99 CLINVAR:858462 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62c281c5-9261-4aaf-9517-fdbb4d84f318 CLINVAR:572229 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d4fa1fa-1814-41b2-8c7c-ccbe66d76219 CLINVAR:572229 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8716ac3-49b5-4484-8065-e5078e3a5dbf CLINVAR:549451 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4784aed6-e1f8-4106-9f10-0f2e8d7fe939 CA397723375 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6982dd05-6406-46e5-a89b-d25eb9e9b548 CA397723375 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cae26bfd-1f64-4ca8-82b6-c08b6317ea1b CA2580610966 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dcf71700-154d-45cc-b7b3-2173d53f2490 CA2580610966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9eafbdd2-0da3-418c-a25c-9c9fe3905733 CA415090844 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53794bb4-f1ef-4b69-87c9-2b10f61af3eb CA415090844 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e526e044-14c9-46ed-9f4b-cfcd6f0e9072 CLINVAR:549178 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 359ed241-271f-4adc-bee3-2d9e96539128 CLINVAR:549178 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de357259-cb2f-49f2-971f-20c1c7d836a7 CLINVAR:2138184 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d380981-1e15-43be-9ff1-f83aa49619d6 CLINVAR:2138184 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81c1dd49-597b-4e67-9e09-43aceb1f60c5 CLINVAR:1387019 biolink:associated_with_increased_likelihood_of MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f1b3d0d4-4e58-420c-b1fa-a8fc3161f9f3 CLINVAR:1387019 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6968ea44-76cf-401d-a82d-fb45c9377180 CLINVAR:495563 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25449bba-fab3-4103-b530-1d8a5d8f483e CLINVAR:495563 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 345f7d43-c7d8-4d25-9d71-2967d2b2ec36 CLINVAR:477251 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ae5aacb0-0cf1-4c79-a256-fdb680759064 CLINVAR:477251 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ae056ac-b636-40fe-9cf8-52add309ff43 CLINVAR:2419155 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 879beecf-ed7e-4732-a771-9bca502f6a06 CLINVAR:2419155 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3afdf68-a99c-49dd-8f75-00aa5e8dc633 CLINVAR:374123 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 800097ac-d7ae-432b-8fb1-e99888352dea CLINVAR:374123 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 558615af-cc4a-4c60-816d-f22dddca0337 CA415084391 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8179dab6-81d6-4182-8cd3-b5d362c4bacd CA415084391 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679d6353-2eab-4fb0-b87a-c261f8f1f75a CLINVAR:420991 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen faf0d656-5dcf-4309-a7e7-4966af7aa295 CLINVAR:420991 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b50d5c-3c0e-458f-b467-fc2fb7974d36 CA397723872 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1afb7aec-77aa-42d5-8a83-6e44caa1e5ba CA397723872 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19a8b8b0-9193-4742-bb8a-6fb11eff95de CLINVAR:11696 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03e5128c-aee4-434c-b7f9-265a6fa49046 CLINVAR:11696 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76902337-d91a-4fe0-b2d8-4583fe3614e7 CLINVAR:516841 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e043431-81fc-45c0-b44f-d46f0bd79037 CLINVAR:516841 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27f191fe-fd94-45c9-88f1-b17fbe885cb7 CLINVAR:549024 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2a43d98f-ee27-4186-8e72-ce012e152964 CLINVAR:549024 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2dd9a36-3793-4993-9f00-0025512dde98 CLINVAR:804917 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9144b63b-1b8d-4507-8ceb-e469b6ca0bbd CLINVAR:804917 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da3ad568-36f2-45bc-a490-cf02992ce1b8 CLINVAR:695019 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 665a923b-5649-4419-8d5d-fb2d7861ba65 CLINVAR:695019 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d11dc537-2461-4972-abf9-407c88254aec CLINVAR:549476 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d2a9f16-d302-44f7-a3a8-11bd2920b3a2 CLINVAR:549476 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ab3d443-a8cf-46a9-adfb-30b8144f64c0 CLINVAR:661301 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa6c5e27-8dbc-4fb0-9606-099f639e1fb3 CLINVAR:661301 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4179eaf-e88d-4fad-a8ed-d6047fb190c1 CLINVAR:163461 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb0cabc1-d6d3-41ad-bf0e-7e7956776e2b CLINVAR:163461 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4973d9c9-7843-463e-87d0-61996853797d CA415090882 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b64dcc5f-0206-4e55-99e5-ad340e19f88e CA415090882 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 871626c7-d6b3-4c2d-b517-d00fc366a0c3 CA415086484 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c9c1e74c-5784-4562-910b-4bccd53c33c5 CA415086484 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 403c6e86-89fc-43cc-b283-c8732f8ca5d9 CLINVAR:254305 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 263d8c74-57dd-4ac6-a11c-e844dc7c212d CLINVAR:254305 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0cb9233-8436-49b6-b6f2-77a76dcc7f7d CLINVAR:549013 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf4017fb-f471-4707-882e-9e57927ffcc6 CLINVAR:549013 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdcb1a49-27a7-4625-aac0-404d55235ec1 CLINVAR:548999 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de539ac8-beb3-46f3-a803-9693f1731089 CLINVAR:548999 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a819ff-7f55-43b3-8b16-fda7be755fe3 CA415088445 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 04b55af0-f9ad-4ba1-b779-03cec218ce93 CA415088445 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46d087b9-cd18-49e7-9ab6-5e151de777aa CA2580610965 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 594b5bea-bda2-4dbc-8ef8-27db26e69c13 CA2580610965 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b29a645-a720-4a01-8cf8-0e7f75c507f1 CA8338094 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b85f3c3-cbce-43f5-b47c-3feb6bac0dd4 CA8338094 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12bdc650-779c-46d3-aa4f-c445b97e32e9 CLINVAR:200193 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a4e547ee-b9af-424b-909a-09331832ce90 CLINVAR:200193 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc715c82-a951-42e1-ae1a-d80099796aef CLINVAR:932846 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 06e4a683-e7a8-475c-a753-b62a5129fea9 CLINVAR:932846 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aed5ea30-d00d-4382-9753-9533feac1dc1 CLINVAR:636640 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6fa0350b-c29d-4df8-9789-57240e4f2aec CLINVAR:636640 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21653d4c-df14-4593-a0e5-e6ffbfbc6ca8 CLINVAR:429431 biolink:genetically_associated_with MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63fcea1f-84e9-40f5-8809-3bb0f668215c CLINVAR:429431 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea22f6ba-5edf-4f2d-952c-41a58b3fb892 CLINVAR:178034 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b3467c8-6e94-417a-ada1-5696f18aa57b CLINVAR:178034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c02c3ff1-c4ad-4b46-a0b8-90e3f18ca631 CLINVAR:544257 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec852ad8-1317-4c5c-b587-03bbd911685e CLINVAR:544257 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4dcfe85-eea3-4997-9f09-ca415fdd6502 CLINVAR:549229 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 69ffd0fd-8906-44dc-965d-c790e6f08550 CLINVAR:549229 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d331f6c3-849d-428d-bd18-5638ab72979f CA402996857 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e8d25cf1-f6e5-44fd-a23e-6389e9ebdc49 CA402996857 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 918dbbf7-de83-4658-823e-ea269cc17455 CLINVAR:554546 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2d2477f7-b7fc-4425-a3e3-1777d2a81183 CLINVAR:554546 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 760fce70-6c0d-46cd-a343-d9de8d0bd949 CA915940477 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f58bc5d-7d73-45af-b0cb-7ad469e02c8c CA915940477 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9ac0a4e-c70e-4ae4-8a94-d99bb6e5743c CLINVAR:588631 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df6868ee-e80a-403e-82a4-22632fa0f0c6 CLINVAR:588631 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6008faa8-f3b7-446c-b8f9-1c0cb146ce10 CLINVAR:646976 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa2bc799-d64a-4505-91fa-2971cdfad96c CLINVAR:646976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 099c3a40-5e90-425f-beb0-11042862fb4d CLINVAR:932789 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3299505e-dba1-410f-ac53-19364269a6b9 CLINVAR:932789 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6918378-9fad-4902-b87d-c3c1daaf9715 CLINVAR:522433 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2b2f296-e1eb-4782-bc3f-48c83d2457a0 CLINVAR:522433 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f52374e6-9e67-47cb-8754-9154c2034665 CA402996840 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 142da282-4d96-431c-9353-0cc42c1316fa CA402996840 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1b84cee-19c2-4acf-9085-075256f1676d CLINVAR:549001 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ded82de8-e1c5-43d0-bd30-7746451973d2 CLINVAR:549001 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e7e8ba6-313d-4cfa-af7f-691b5ead63f1 CLINVAR:1703957 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d97bff12-1c09-4f83-9fc5-789328831795 CLINVAR:1703957 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920572a0-763e-4fab-8ca2-e4a79e8ff313 CLINVAR:477250 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e468af2d-0b4e-405e-911c-ea3c58b88484 CLINVAR:477250 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70badc2a-0b63-4a4a-bd8f-905362b16430 CLINVAR:1143525 biolink:genetically_associated_with MONDO:0010278 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a07601da-27a3-44f4-af3b-2bee7d3dd352 CLINVAR:1143525 biolink:is_sequence_variant_of HGNC:11079 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25be31cf-6963-4db8-b8f1-388a13b56a81 CLINVAR:406288 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a97ac6da-d77f-4fd4-81a8-b07574f65e72 CLINVAR:406288 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4699de63-7c51-4f8b-a29b-9deb7f31bead CLINVAR:818179 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9d191b6-1766-4b0c-966c-76065e7cddaf CLINVAR:818179 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90b15888-b1eb-45cb-aec2-a9e797b91677 CLINVAR:11700 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4d0cf56-4266-475f-845b-2c29a8bab759 CLINVAR:11700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4261c51c-efa8-48fa-9f2c-741ca9a9585f CLINVAR:1003911 biolink:associated_with_increased_likelihood_of MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ffc24142-b8aa-4772-9a76-de916fce4bfd CLINVAR:1003911 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen faea256e-c3e0-4aa9-9ea6-75b9cdb8b574 CA415087684 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c107db80-8e21-465a-bb4f-bd062bf30d5c CA415087684 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b9bde24-8235-4624-aca1-a38e9e38a90a CLINVAR:892468 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0392a4a-f672-47ac-8e49-9ce0b71ab0c6 CLINVAR:892468 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25308f2f-0dd3-4406-be44-3d2c4c8f18c0 CLINVAR:706747 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9d86e64-9088-4f2e-802a-8c6951efcc62 CLINVAR:706747 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3757a10-7e97-426d-b030-6109f3de84a5 CLINVAR:2421360 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a265910a-9bdc-4a30-8c33-d02dfdd27733 CLINVAR:2421360 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 902ecf1b-a629-413b-8952-a10d087cecf6 CA402991093 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9c87dea-3631-47cf-ac45-8999ce4c100b CA402991093 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ab618c3-d956-4970-a75e-76f046ec2b6f CLINVAR:180355 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73c6113a-36e6-4234-904a-b16ab2a0f2f0 CLINVAR:180355 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eafd91c6-6158-4b18-b0a2-aad6eb2342c0 CLINVAR:1325422 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9e53f6a4-2eb6-4e03-b22b-4904720655f1 CLINVAR:1325422 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3542a72c-ff33-4c13-9132-6c9597082626 CLINVAR:495609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 91ccd3dd-02f5-47cb-af50-d3bbd5570e67 CLINVAR:495609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c66342f-1d98-43dc-bc22-f9ec0729e10e CLINVAR:155793 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2c4b134-1574-4fbe-9afd-be518121e25c CLINVAR:155793 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da69bf5b-d662-4533-ac3a-7e84c4e0dda5 CLINVAR:222604 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 066915a5-40b8-4707-8b1d-0b6b099a888f CLINVAR:222604 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f40f14e-e017-4056-a91f-05bf16985abc CLINVAR:449440 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 171cdd7c-b5a0-4a42-95fb-953583dc1f0a CLINVAR:449440 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86067829-3f64-4312-8885-9713ed118cf8 CLINVAR:626882 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 51ad0113-9983-49c6-b843-61efb910ce0c CLINVAR:626882 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25c407d2-88fc-4c0a-b35e-88a8cee0cad9 CLINVAR:495599 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e316e34f-7842-4a5c-81ff-e2200e7f915a CLINVAR:495599 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da632cbf-9e66-4b1b-b6bf-fea8ea8a7efd CLINVAR:495594 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8be3cefc-129b-4872-8588-b3bf23632aa9 CLINVAR:495594 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aabbfc1f-1fed-41d2-90f9-cb1cec0d071c CLINVAR:549169 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 186ddf90-03c2-45c3-824e-1c2711c4a840 CLINVAR:549169 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73058940-2717-4ad5-80bc-b513c8ed6767 CLINVAR:263660 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05066b2c-a7a3-47ed-9924-c8a59f5a1438 CLINVAR:263660 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28639043-d113-4812-ac23-b9065e092604 CLINVAR:928903 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc151104-5df0-4382-ad8e-98dfc5ab67b4 CLINVAR:928903 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62444041-7fd0-43fa-a1a7-4b8d1fe732cf CLINVAR:222600 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 65023e55-64e8-4505-8889-bec8fd5de1fe CLINVAR:222600 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 769eaefc-892d-4abc-a0b5-78cd048db153 CLINVAR:549150 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c0aa3e5-f47e-4661-aec2-b71f6df1ac18 CLINVAR:549150 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c474df00-84e0-476f-91b4-ca07532af823 CLINVAR:915814 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 89d94217-0073-48a3-beb6-5814e3420ecb CLINVAR:915814 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0026773-303c-4dcb-8899-08b78d1c59f1 CLINVAR:264089 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3991ac29-5308-4f06-802e-42e2e013a1b6 CLINVAR:264089 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13346a06-a3b8-45bd-9395-345cb506d914 CLINVAR:549070 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5bea1f01-888b-42cc-b76f-8355f37ad101 CLINVAR:549070 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 817f1e3d-f638-4ba6-a25b-3db6a441b1f7 CLINVAR:519758 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a100dbd6-50f2-48ff-a1f9-04c229bb1c30 CLINVAR:519758 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d35a1e6-4c08-4172-bc1a-3f0ada14bb8b CLINVAR:98872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cec9782a-2f92-4621-aed8-0b53e2b187da CLINVAR:98872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ef9530b-175f-4167-a1e4-7bf164315417 CLINVAR:13114 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2c70b8d7-9589-46c0-8a53-3e5acdd67038 CLINVAR:13114 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2826d9b7-578b-4eab-b3d4-c2c0842f5374 CLINVAR:98880 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e868f685-6def-488d-8898-e11f916a622f CLINVAR:98880 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e2a0bb6-4cc6-439f-a9f8-c8c05345768a CLINVAR:660359 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 598ed509-026b-40a7-b280-a79e340d61b9 CLINVAR:660359 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8858a666-9fc3-4305-b151-a03af1ba6e0f CLINVAR:98899 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2ac470a6-bdea-43d9-b407-ce0f82d7c573 CLINVAR:98899 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea8a163-68c3-4fa9-891e-5b39c539af88 CLINVAR:98825 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0ccbe2a2-5f7d-4f7d-88da-a1b137ca52e6 CLINVAR:98825 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37cee722-a1fc-40e0-9ef7-8e1f80f78c62 CLINVAR:1067786 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5a5f86f-47da-4956-b3c1-9d979ffb23e7 CLINVAR:1067786 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae48f909-a01b-4321-89e5-d4c8c3be420c CLINVAR:13117 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4770b73-322f-41ad-a4ac-58d5e155e580 CLINVAR:13117 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db620707-6c9d-40ee-b66b-226a7e2e3e43 CLINVAR:1070755 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f083abac-6df9-443e-929d-2974fd2b8b12 CLINVAR:1070755 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40dedc8c-5995-45b3-97b0-46da86d32ba8 CLINVAR:1380036 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8a631a6-4c55-4a39-a3bd-fa06e61ece13 CLINVAR:1380036 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 909c1361-21d6-4fce-8c4c-e22d4e8d8483 CLINVAR:547296 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e68962af-c838-401b-beb9-8686c86aaf7f CLINVAR:547296 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2e02848-5447-4a7d-98a4-fc59cb730167 CLINVAR:555394 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cf533d4-2717-4d28-98ae-5cc9402d3a48 CLINVAR:555394 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c1b5fa1-e81a-434a-bf48-57ad45e339a6 CLINVAR:1023481 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c5cf334-adae-4bde-b779-cc6260a2c3cf CLINVAR:1023481 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67f32146-6ebd-4009-98b5-9a5bca240b63 CA402998134 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abd8c01c-8538-40e2-85fc-e3430201b35e CA402998134 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e882e46-7420-4e4e-be61-056865b6a16c CLINVAR:854099 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d6164b8-41db-47c0-8e02-9c1d69fc0c1c CLINVAR:854099 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ec66cd-1958-49c0-84f7-1b3a8f268681 CA415087966 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 094e4ac6-b39f-41fa-a99e-685803277bbe CA415087966 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 907e552e-2b23-4341-89dc-67ab861499e2 CA415090808 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa90c199-b77a-4a30-b10a-704a52b86eef CA415090808 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d52ecfb-cb38-40de-be6d-09d2cc283d8b CA2580610964 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen da501300-3314-4ec3-a9d3-62e3a22eb664 CA2580610964 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06381a29-23ad-425c-b6a1-ce192aa5facd CLINVAR:618516 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 971206f0-117e-4ca9-8fea-2a099b96d98a CLINVAR:618516 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f2f05bb-d17a-41e1-9c10-2d18cc344e12 CLINVAR:338506 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00363cc7-ed88-419b-8f75-f6a91edaee72 CLINVAR:338506 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf0034f8-6096-4693-beda-ac832d797ceb CLINVAR:1966 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6ca19ee9-d43d-4c3a-b5cc-0fb3ef7a5bb7 CLINVAR:1966 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 385a3eed-19ac-4024-bde1-f45c037c19cd CLINVAR:968664 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a29ab045-2733-4258-9a58-3eca92f96a58 CLINVAR:968664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d563263b-0865-44fc-9297-546d7a1870b9 CLINVAR:419664 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7910bf7b-09a6-47fc-a5f2-0f40c83f50a2 CLINVAR:419664 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43d677b9-0c01-4459-bce6-0cf3e27b015b CLINVAR:418256 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 72b6f117-ab48-4045-94f5-d1d99d64fee8 CLINVAR:418256 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b9ea950-a501-48b4-b690-e94bf9234ed6 CLINVAR:804024 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b20112ad-a76a-4d92-97fc-f73c423a10ce CLINVAR:804024 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d433e088-146f-4275-b3bc-70df65edff37 CLINVAR:505549 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6c7041a-3c4c-4cfa-b46e-02906656251f CLINVAR:505549 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a1cf461-abd3-496a-b77e-97dbeecb3c24 CLINVAR:1979 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a9cc440-0009-4dba-8898-1d6220ebd32d CLINVAR:1979 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8a2e0a1-8cd6-474c-a382-80072a11a206 CLINVAR:68264 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3fd98616-35ca-49cd-b52b-b03802d89360 CLINVAR:68264 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53f20901-5d46-4ecf-92f9-c4743f6ba12b CLINVAR:1963 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eee3de02-4bf2-446a-b302-e5c4907aa5a4 CLINVAR:1963 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 427e33a2-7cfe-4529-91fd-1e0eda10fae0 CLINVAR:468281 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96c4ad18-87b0-4168-a912-dbc951d495ef CLINVAR:468281 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 909a5f1e-5363-4852-a51d-6b9bd75fdae5 CLINVAR:1075328 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 387ffb1f-9d02-4c1a-8d55-3c0d2d788ab4 CLINVAR:1075328 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc31f87a-86a8-45e4-89fa-fbd3426aff77 CLINVAR:1957 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 824ed20b-81bd-4740-b42d-7eace5366ce4 CLINVAR:1957 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d2d9f9e-74e2-48bc-bbe0-1f5ee307d930 CLINVAR:550821 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3bb0c335-c020-4473-922d-33d899069be9 CLINVAR:550821 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c7bf923-0c63-4ab7-b25d-bbda90df8ab1 CLINVAR:1473380 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2e2734da-bd51-4b26-b91b-c2a990c94a8f CLINVAR:1473380 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e679408e-ce3a-4c3d-85bd-96514ab37611 CLINVAR:1969 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 90fe096e-73fc-440f-96c0-8d3c924d2d84 CLINVAR:1969 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d03146d9-1c6b-476a-816d-0482eed29833 CLINVAR:254216 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d1974a86-e101-4663-826e-f48b7526a804 CLINVAR:254216 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1219dc26-9832-44e4-9253-4c201eb2b6b6 CLINVAR:986350 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 70d55fb5-b516-4cc3-b036-cd2725e18f1f CLINVAR:986350 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a37b715-4fcf-45db-b157-339124f6b0bc CLINVAR:1713265 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d16321b8-a484-43a1-a883-68112305a157 CLINVAR:1713265 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa65bff4-2dea-4a53-b563-cb467fd23aba CLINVAR:1069380 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0b2e53a-3661-474a-8c95-e8aa9b274ce9 CLINVAR:1069380 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cfe3088-6222-4d4f-819d-2ec7d80f0c9a CLINVAR:254217 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1bea565-48fe-42ea-af5a-d21bf1b16c7e CLINVAR:254217 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e64ea46a-5c2d-45e9-b1c2-a6ad9feda6d7 CLINVAR:1679474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00c659e4-c808-4248-865e-494e37ea792e CLINVAR:1679474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 021b1904-cd4f-4a69-9c57-e70da75502ed CLINVAR:1696158 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b2eba42-0d45-4b13-8993-414ed66c11c6 CLINVAR:1696158 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67d78a2e-854d-4d97-b27c-0e778e024a42 CLINVAR:804345 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5f3013ef-a889-4978-9c1d-1823341ee515 CLINVAR:804345 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47e421ac-c5bc-4a16-affc-af38bd71f3fd CLINVAR:353259 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3de69c8c-77d1-4ea5-9051-3e15f3deafe2 CLINVAR:353259 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6ea1e64-b32f-45e9-a65d-036bdcf6328a CLINVAR:36392 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d442144-69a4-490a-9ad5-824439572ae3 CLINVAR:36392 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d736c4f-41f2-4de9-8cb5-c30c0d9fdecb CLINVAR:224841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c75d6e75-a891-4d94-93ba-1d186a4616bc CLINVAR:224841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f477c19d-4be7-4937-ae20-c2a9c4b1212a CLINVAR:578174 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ae152fa-2bab-448d-b941-046990973fc0 CLINVAR:578174 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ade15b07-5f75-4b28-ae6f-bd3a78e33456 CLINVAR:2187538 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 860cab02-658f-4124-94c6-5fea4bc49439 CLINVAR:2187538 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0b1d824-5336-4e18-bde7-fc1bc17e579e CLINVAR:14841 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0aee512-7e00-43bb-b82d-ae3640f3584d CLINVAR:14841 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ff263e1-c847-4b30-9401-97f841273dfe CLINVAR:1034220 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5c68e440-ae46-482f-a3e0-e7518ba7a6f9 CLINVAR:1034220 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f6ccbd8-6172-4e42-bf23-bfce3ae914b1 CLINVAR:304491 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86035408-1bbc-4d0f-a269-47d608821bfe CLINVAR:304491 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d9c8edf-9b6c-428e-a90e-1a9a00c30287 CLINVAR:285045 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 091b7fce-5e72-4818-b16e-6c4752e90cdd CLINVAR:285045 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eebb819-d02d-4b8b-a9bc-a229546ecb80 CLINVAR:372487 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b68bfc8-c562-43bf-83d3-70a342f5f4ab CLINVAR:372487 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 012e7061-e5f3-4de9-a94b-46df5ff27e03 CLINVAR:626157 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 212a5197-8345-4e24-b697-19bdb5528eb7 CLINVAR:626157 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3cba59d-779d-41f9-9b61-cdb66c036556 CLINVAR:235411 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10e1247c-4025-4096-8a4c-1909debb1a77 CLINVAR:235411 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12dcdd00-6894-4388-8598-e625de0c15f5 CLINVAR:68681 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b60f34ed-8270-4e69-8714-267ab6743400 CLINVAR:68681 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6672bb2-1977-4eed-85b3-cc8e75179376 CLINVAR:496630 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd9a1791-1783-495f-bac0-0008efcf92ea CLINVAR:496630 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac43b00b-1c08-43da-bfdf-bf484ebdf3b3 CLINVAR:13133 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80bf8119-00a2-424d-85e6-82c550659c99 CLINVAR:13133 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bbbd6a5-3a6f-477c-b752-b43078cc48b8 CLINVAR:1075544 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f182c5e-86e6-4547-86bf-b3b744c4ab79 CLINVAR:1075544 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41d4c057-3eda-4e83-8501-e3a2ab7346f2 CLINVAR:13130 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbcc9596-e1a7-479b-b1fc-5ebad7d70d42 CLINVAR:13130 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31eccbef-9160-48ba-bd06-47bd7e5f685c CLINVAR:500475 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bea0a049-ca48-48a2-90c6-34225d44f2a7 CLINVAR:500475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0977cff3-b8df-4850-87a6-1cb377754bae CLINVAR:36719 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8aa7d8d-1860-4ee3-bb6f-39a08bcabd91 CLINVAR:36719 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a49a6922-4108-42d0-ab4e-dd53d6078bf8 CLINVAR:1412375 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 449b54c3-e9b1-4e56-b163-a3cad5d73e72 CLINVAR:1412375 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce4e2bbe-2c11-4b6d-8995-48462f4ec233 CLINVAR:13138 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8420979b-a1d0-4be7-b9a2-490618102066 CLINVAR:13138 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 693ee2a1-2e75-4def-8b4f-022a9380c8d9 CLINVAR:427020 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3077f41-8ae1-407e-8427-489155020745 CLINVAR:427020 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 366f0235-3491-4fe3-bb93-9c5fe66245eb CLINVAR:624608 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen baa566d4-7334-482d-a167-46e04425a03d CLINVAR:624608 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55c0070a-6b77-435f-870d-3c2b93d3000a CLINVAR:36415 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3c46c210-3e13-44da-a9f7-72d892ad934d CLINVAR:36415 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d5e3122-1f17-4ba3-9760-319f0ee552e1 CLINVAR:891294 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46b06f38-09ca-4bf5-8a03-4e9a540756e6 CLINVAR:891294 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96d0bb97-92db-4554-ab29-34f4a9d9a03b CLINVAR:81020 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bf69671-9890-481f-8e54-2ec82ec865af CLINVAR:81020 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ecab5b3-7b44-4094-a62d-f9de5bf7b44b CLINVAR:36423 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c4deadb0-7e75-490f-8e63-15eacaca9836 CLINVAR:36423 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2de8cc2c-1a5b-4cfa-b2bb-c98632e57bf5 CLINVAR:644288 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ed87f7bb-cca0-402a-9fa7-5c3b5b27f69b CLINVAR:644288 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5af532a7-43b2-40e2-83a2-dcc7dd9b9ba2 CLINVAR:1999662 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5fef6e75-5c33-4ac9-ad57-e478753d6225 CLINVAR:1999662 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75e51899-03ca-4016-af7b-33199288fd1f CLINVAR:2048620 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb5274ca-0ef5-41a3-b42f-a34cb6fadf22 CLINVAR:2048620 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a434605d-644b-4918-a0e6-36649446a3bf CLINVAR:2054022 biolink:associated_with_increased_likelihood_of MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8842bd1e-7638-45c0-93ce-705cc25b95ea CLINVAR:2054022 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 217e365b-50c2-4aba-8ace-04e1f0222921 CLINVAR:962267 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95ca7e92-ca95-48ee-8acd-e4685baa180f CLINVAR:962267 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff005c7-efe8-4a14-973a-739b875733ef CLINVAR:372386 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12620ba2-bd9d-4b9a-a04c-839f130376ed CLINVAR:372386 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99393d3-e8e1-4980-9c73-92a920962f0d CLINVAR:280035 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c911642c-78bb-4681-ae6a-4d664b3ae56a CLINVAR:280035 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17df227a-b790-4b47-af01-2d15a087a63f CLINVAR:225195 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fee6bb31-e4e1-4e45-a268-823c044c8b0b CLINVAR:225195 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b696d41-96e0-4511-9154-5df16cea2926 CLINVAR:10027 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb286371-27a3-440a-969d-43b7cd472946 CLINVAR:10027 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fbfbc86-fd2d-4e99-b130-d4b39c1220a7 CLINVAR:837417 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0515acb6-3272-401b-8b54-0a58b3bc37eb CLINVAR:837417 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eb59825-05e3-4a3b-9996-cdf5d0915182 CLINVAR:532191 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b7e4dbe-af5e-44ad-a775-7710c1eee23a CLINVAR:532191 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa5fc1a0-e560-4f92-876a-aac6d8fe6fc3 CLINVAR:1559662 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96b65068-2ac2-4473-8a26-c75e58f3812c CLINVAR:1559662 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8847f337-3a19-4822-b3c6-4cb8bf36c643 CLINVAR:1368945 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ee4aa931-640b-4826-ac23-f34029dd06f9 CLINVAR:1368945 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ca60d64-ab3e-4b03-a692-0f73437097fe CLINVAR:633274 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91a0787a-508c-408d-a4c0-12f15344a47f CLINVAR:633274 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7102af78-3a61-4b5a-b4a0-04c7fcbdfcfd CLINVAR:690455 biolink:genetically_associated_with MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f68cae00-7ad2-42fd-b17e-e76b258ce70f CLINVAR:690455 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d76eca36-b05d-4d83-87a1-6520a9730883 CLINVAR:932987 biolink:causes MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52c72079-452b-41e5-9b06-36f15a05ae7c CLINVAR:932987 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 405b5250-405d-4a4a-b7d4-67c423834e36 CLINVAR:825366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3a9455e-1266-4551-a1ef-7b2afef2159f CLINVAR:825366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a941379e-24fe-4c0c-adcf-b6a7c18e6ce5 CLINVAR:477225 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d3133fcb-2ebd-439c-b9c9-a0cdcf9e2af2 CLINVAR:477225 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3685c0f9-ff6f-4b55-8efd-55abca07effb CLINVAR:825165 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7e3d4ac-5595-4677-a4d5-3854edd9ea32 CLINVAR:825165 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97f9c590-f209-4d80-85f5-3500643bf4dc CLINVAR:577152 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b60a4bdd-93ab-4945-ab8c-66f9830bc99e CLINVAR:577152 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3f28379-d174-4ccf-bc34-ee7b2339021f CLINVAR:939082 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5744544-4792-4f2a-ac14-f253fb78c0e7 CLINVAR:939082 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff683dea-6cd0-47e9-906f-866da64639ae CLINVAR:933119 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58f24672-9d55-49cf-85f1-523a99c9a6fa CLINVAR:933119 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 921926ee-72a1-4631-928c-1c93b2531379 CLINVAR:30566 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 47c7a5ff-cc88-41f2-8a4a-7135c1b83a23 CLINVAR:30566 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb8b55f0-4c18-413c-80ee-445fc805b27e CLINVAR:36212 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a28f2599-566e-4837-bd21-fad23ebef9f1 CLINVAR:36212 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 145ad405-3a41-4507-9c92-89bcef89d2f0 CA367402683 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61f2abf2-de4a-4f24-9703-f8593c4157f9 CA367402683 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44f210a7-eaf7-4987-ba56-5c7fa2681306 CLINVAR:447411 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b63aeaf4-c631-4322-abbb-a01da69ce314 CLINVAR:447411 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 410ed0ab-fc02-4c56-95ef-1ccacf6b9ee5 CLINVAR:804852 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6058a245-173a-436a-a25e-461da6366730 CLINVAR:804852 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56118b4c-7461-401d-aa62-d3f17baaccda CA367401193 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 20c0a626-377d-4fd7-b9f2-696ed996394a CA367401193 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74e8c11b-e070-4a47-9c41-d010faf6aff8 CLINVAR:1807279 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4baf2acc-6f26-43fd-8510-643d968d39fe CLINVAR:1807279 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a233b019-a327-4920-9e9f-88057375a068 CLINVAR:995373 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3449d952-8cf2-47bb-b3c2-331d9ad86ef0 CLINVAR:995373 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b62a872e-5d78-4faf-8fc5-0ee26a65eca7 CA367397094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e6f34b99-915e-4f93-88fe-59d428bd2fc9 CA367397094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06f6ae2c-eff3-426c-bd23-cf14380f9e34 CLINVAR:447381 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 22a9c5e2-779b-4ab2-8a54-cc597ea42e88 CLINVAR:447381 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43b3efb3-9efb-4dfd-8f42-714e23d16e83 CLINVAR:36174 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0b274db0-8616-422f-a973-21a7bd5ade37 CLINVAR:36174 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 570ae760-be30-4ef4-b52b-a2c08b25a605 CLINVAR:418228 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69911eb4-75cc-4827-bab4-19e2e53abf77 CLINVAR:418228 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bda8b446-74b8-48ef-9ba3-3d1e2e7f9500 CA2580612100 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31a51bcc-f286-4bde-b971-b5fa187accf7 CA2580612100 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cb704f8-2e2a-4739-aaa3-194dcb507fa6 CA367401296 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3356fb2-3752-410a-83fc-841734425c4e CA367401296 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b176ff45-176e-4526-85c9-614c38a4e727 CA367401320 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4135f2fa-1622-4385-b99e-1c87aebcea80 CA367401320 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54e2dc92-17be-4ade-aa2c-9f8b97a689d2 CA367401688 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81b8ca4e-74ee-45dd-a9a9-1d20148ad2a0 CA367401688 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e6611e-3338-4ed4-aeb6-e6beca19c891 CA9870415 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 037c87c0-b9ef-411c-9682-65b7ec4fa4a9 CA9870415 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10ceb322-6716-4325-a05b-4842741c579a CA409108291 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9fd306f-aa26-4fd2-82d8-8fdcedaca456 CA409108291 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0a3cdae-d5fa-47e6-b782-65f73937f49b CLINVAR:36346 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 11c30e86-95d6-4ec0-b437-c652c77874c8 CLINVAR:36346 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df9d5dfb-dd01-47e8-8d81-3c608b1e34ff CLINVAR:1299754 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b810e0b-0865-423a-977e-1829cf48fd7c CLINVAR:1299754 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6269356-bdcf-4108-a139-6b06f44e3124 CLINVAR:447521 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ef8ff32-156d-444b-ade7-2297a39626f7 CLINVAR:447521 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 022a0e7d-3bda-4894-84bd-ece7e1543bc9 CA386964742 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5f701a6-ff1d-4853-a394-33504e30b191 CA386964742 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e8b3c12-f849-4018-9fa6-b0b9afc5519f CA386964799 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5ab5540-ee31-47a6-a9a7-e4eca4b0bece CA386964799 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1ef14b2-84dd-400e-9f69-e1ec16ebd1b4 CA2580611076 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 434902bb-939c-43b3-b4a8-699413a182b0 CA2580611076 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b579315c-5db7-43f5-9268-8db39d0dc528 CA386965032 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 25f8f724-e094-430c-aa36-b621fdaf8d10 CA386965032 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e89a2556-37e0-46b3-b549-201c2a4129f1 CA2580611120 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79259d1f-f9dc-4825-820f-d254dc932cd9 CA2580611120 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 342f9899-e098-425a-a342-b352964237ed CA2580611121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5cbd8ada-5975-4a57-ad26-a1c09b9bbd11 CA2580611121 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a2fa7c4-4895-4ef5-ba2c-75d3df07f663 CA386965309 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 276df816-b3c0-481d-a49a-5c5cd09beab3 CA386965309 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9a4058c-7d1e-4d68-8099-46f1767376da CA386960641 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c47202d-7436-48c6-9afd-177583a5fc06 CA386960641 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd9a4ad9-8976-4b30-9d83-7cc4c01b29b5 CA386960737 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55c88232-4339-4e3d-8d5e-c4d65cb37e07 CA386960737 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49d0bc49-f9e4-405e-92a3-68d4807f42a2 CLINVAR:897015 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5aa9fc45-1b99-40a1-b622-209a45226c1b CLINVAR:897015 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bc624ea-dbdb-478a-9d93-36295ca275e7 CLINVAR:2088001 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 238d846b-223f-4a4e-8eb4-65902fa564cd CLINVAR:2088001 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ac1477e-1311-4fb0-9325-b2f234c8b7d2 CLINVAR:558340 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6610543-5d65-418d-b113-8872cdcd0a67 CLINVAR:558340 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6382994c-15a4-4fc2-b127-97661eead083 CLINVAR:1505857 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c8f8ef8-2a6a-4f2c-8aaf-a0e77b042015 CLINVAR:1505857 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b69b346e-2a2b-4512-b3fb-b1e5d7a0731e CLINVAR:402341 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 506df4c8-503c-4621-8cc0-f8c7500f92d8 CLINVAR:402341 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d8cb50-cc2a-4402-9b39-b356e512b57e CLINVAR:1722324 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f31c7273-b505-486a-acf4-8548a4058fa3 CLINVAR:1722324 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c23372b5-1079-43c5-a4ed-7ed05e8f9547 CLINVAR:2118854 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e25f1c5-0756-4401-90e9-ff54504c7117 CLINVAR:2118854 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7439458c-5122-46cc-a4b7-4acf401210a8 CLINVAR:2288152 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af261007-b6ce-48f0-b483-71b984f4157f CLINVAR:2288152 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28551a56-df96-4d1c-8912-ef7ba2af9a63 CLINVAR:2163795 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a2ca80d-3a64-4955-9fd2-02c7b55c88ba CLINVAR:2163795 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a24b6f7-ee26-4618-b263-1e6fc18998e6 CLINVAR:969751 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7351a7cc-ac8a-4cc4-8bc4-fa2bbe662beb CLINVAR:969751 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb1de613-f86d-4767-90e6-35bad3b6a92c CLINVAR:4665 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67016ce0-d6d7-4e8e-a79d-dcbac4ea2ad8 CLINVAR:4665 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cba1932-d9f0-4110-9ac1-2a950d7c2e65 CLINVAR:802564 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9583616b-bf9d-477e-a47a-e13b63a3c70f CLINVAR:802564 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4760deb-994c-47ed-9286-ac2eca00ade8 CLINVAR:1364174 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b19b9ba8-ef34-47f0-a6ad-7b85bde8a77b CLINVAR:1364174 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 665e7a27-fe6b-41c2-904c-45beba3da0b3 CLINVAR:4674 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00ee9d8f-f600-47df-b2ff-ffa3f49b85e4 CLINVAR:4674 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29190a27-5f24-44a9-b400-62ecdce95c12 CLINVAR:2136852 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2585c729-986a-43a6-8782-2b82cdc5c533 CLINVAR:2136852 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e67a86-809b-4e53-a7d1-cd02840ee8f5 CLINVAR:1438811 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7f23eec-34a1-4e05-890b-d4408e8a53cf CLINVAR:1438811 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b2c7db8-39bf-47e9-bbdd-00838eee9042 CLINVAR:2136853 biolink:associated_with_increased_likelihood_of MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5bd6807-c8a8-4681-8004-e45f8ec3ecb6 CLINVAR:2136853 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e7ab257-6348-4648-9595-b49f2cea682e CLINVAR:2107279 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0e0093f-55f3-4d76-9979-f2c3613dfb53 CLINVAR:2107279 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 280efb7b-4650-4cd5-a890-e7614ae89c25 CLINVAR:841042 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa5f1af8-1eb5-4385-8f62-d9f24d8ae426 CLINVAR:841042 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1f9072b-3510-4235-adb4-7be7c4ca5dca CLINVAR:4677 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d536ce24-f8d3-44cc-a021-b79404d3bfeb CLINVAR:4677 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9913d5d8-cb69-4463-8b93-310d19eb9470 CLINVAR:381576 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 215f8f72-4a60-4bf9-9e5b-1989328db1f0 CLINVAR:381576 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99949d09-5680-4d9c-81b1-74da370e6614 CLINVAR:496633 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41514b87-61af-4843-9411-828c5e62b8b1 CLINVAR:496633 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43dc2634-0137-4ef7-bd8b-88693f39558e CLINVAR:650904 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c70fa2b5-5271-432b-9251-a1a97d14d75c CLINVAR:650904 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2eefea7f-cf7a-40c7-82e9-938b7904d09a CLINVAR:496629 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 45d0ecc7-a6e1-4faf-af5a-fe5c3e512ed7 CLINVAR:496629 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24c5fb42-95f9-4e6b-872c-8109098ccbd6 CLINVAR:549915 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86d6340f-0e86-4a40-a900-f13b8530f718 CLINVAR:549915 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12793122-828a-48a4-91ec-bbab597e8a9a CLINVAR:304492 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e978bb83-d847-4118-8938-68f003f0bc53 CLINVAR:304492 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b202370-28fc-4bc5-bb03-215ef787c051 CLINVAR:555182 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79cd9292-ecce-4cbb-8dd6-38f5e3daba51 CLINVAR:555182 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c522a366-4c12-4c68-aba5-5c54a512f578 CLINVAR:36393 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b9ed806-f153-48d5-92a1-35fd146d7320 CLINVAR:36393 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbc432f3-a6b5-48e6-afe4-0939d287ab21 CLINVAR:14843 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 32537819-62e3-483b-ba9f-ba941413c084 CLINVAR:14843 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e01f9dc-5c86-4fcb-8a7d-f7495479981d CLINVAR:1968 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 881f29f9-f738-440b-9f96-53bd6e1ab586 CLINVAR:1968 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a25da101-05e9-48df-94e3-3fb048a69904 CLINVAR:529744 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5606fe6e-a3fc-44a8-acb6-a511cf8b50ab CLINVAR:529744 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce3c17b7-1901-4181-a367-d099a817164e CA343774510 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fe3fb24-2882-4b5f-a087-f11fcd4da372 CA343774510 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4bbc375-c371-4db8-aab7-189cc8540bd1 CLINVAR:660852 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7551fda-9de3-4e52-be97-baba02eda77c CLINVAR:660852 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 071a88d5-d1c7-4efe-b13a-243192966f8a CLINVAR:694627 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c2aed2c4-7354-45c6-bf89-a3150409418f CLINVAR:694627 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3bf16a6-6ee6-4a1a-9434-dd23894925bf CA2573051124 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f35d6e77-472f-4067-a3c9-3c9203b517ba CA2573051124 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6408fd9-f279-4b9e-8f0b-2887ea9cb4fb CLINVAR:18017 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78edd421-6e10-409b-9d72-7f615083dd77 CLINVAR:18017 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b6bd908-7f81-457f-acc9-4320e9a8f9cb CA421942771 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b922c42b-f784-466c-a212-d67f2bbe958a CA421942771 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f90b3c14-547a-4d2f-b66f-549d9de968f6 CA2580612102 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d635e10b-e3e2-4c5e-82df-a972abacb1b4 CA2580612102 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6281fa3-4f82-4dde-9dbd-972a40076a3c CLINVAR:585914 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8fbfd3a-a500-457b-812b-0c14bfa388e0 CLINVAR:585914 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e111d587-1407-4416-b26b-23af239c6dc3 CLINVAR:36172 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81ac1761-7851-445f-9c44-03ee5d6c9bd9 CLINVAR:36172 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 756a6477-2fbf-48d7-a5a4-9caf2694da45 CA2579830356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 438b0064-ef39-4929-ab73-dfeb9078fd2e CA386958785 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8a83963a-2cd6-494e-955c-caa98d2fad39 CA386958785 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc85ef87-1532-4eb9-a1c9-3edf3d3b0fb4 CLINVAR:1384058 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ad52fc4c-13fe-482d-8238-881913067a22 CLINVAR:1384058 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45a8bc4f-d4ba-42f0-8a33-0b156177083e CLINVAR:1298987 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37796b82-6443-4e75-8e3d-4e875d51229f CLINVAR:1298987 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbcf3a6a-bb81-4edd-adad-ea7f8e2ed609 CLINVAR:642787 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d86c8f80-8685-4260-93f9-ea131cc58a97 CLINVAR:642787 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18f9f1d1-ad26-4466-87c5-a1ee8b45691f CLINVAR:1323115 biolink:associated_with_increased_likelihood_of MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2cd4c073-05e0-40b5-8153-e0e54f8a3767 CLINVAR:1323115 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31427bcf-f7fc-4a62-a177-6f1f335f8e31 CLINVAR:1028611 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c28a2ce8-2893-4733-8e44-a04adc21ce48 CLINVAR:1028611 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf17d006-0e82-4b97-811c-302e611863e4 CLINVAR:596673 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dff9bbc3-93df-4e6a-83b5-3b27e80d1e6d CLINVAR:596673 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe44236b-dfc6-4cae-a4ce-3acedc0f3266 CLINVAR:866507 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e1445e39-f93d-4821-9bee-913f729cbe08 CLINVAR:866507 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d143e0e0-42e9-4baf-bafe-720a85e95da9 CLINVAR:29873 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb63319c-ebf1-4b8f-8c6d-1f06dba68b4f CLINVAR:29873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db81f870-979b-41c5-84f1-d51d53f70df8 CLINVAR:98846 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f8404151-beff-41dd-852a-fdbd2027498d CLINVAR:98846 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53b19726-f068-46fe-922e-804eb52b5fec CLINVAR:98848 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33828cc7-0b56-4a7b-8b8f-6f783cc612f5 CLINVAR:98848 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee83eab9-437c-4529-b8f5-a8e003667358 CLINVAR:1369885 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 859b08b3-a7ca-49cc-bf27-b6efde4ffd40 CLINVAR:1369885 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3413a97c-57c3-490b-9a28-314a1b3d6561 CLINVAR:379561 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ad45cca-5680-46eb-96d7-61f1b8a705e6 CLINVAR:379561 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ced147e-06cd-4d56-9508-5c0e67e80c05 CLINVAR:98835 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0fa3275-f013-4183-b244-9f5624fca8da CLINVAR:98835 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd84de55-c229-4079-aa4e-c142db500c6c CLINVAR:973955 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94dedca8-8911-4f0f-8704-6eb0519bc9df CLINVAR:973955 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c86a45b-fb63-440f-9fb8-439faeee1701 CLINVAR:964193 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d6015bb-e7c2-4249-b9fe-5611883c12f0 CLINVAR:964193 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56605e1c-cf15-4b0f-ac6a-87eeac557758 CLINVAR:467827 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de19b8c0-3d1b-4bd0-a243-27d3c385ab9e CLINVAR:467827 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93dca27e-b0a6-411c-ab5c-610c0325401f CLINVAR:1213912 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0c73cecb-d8ac-4422-8d61-a50edc27b04b CLINVAR:1213912 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901d7736-fd8a-488f-8060-3764a795bfd4 CLINVAR:10019 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce52c165-ac62-4220-8440-66c25eab5100 CLINVAR:10019 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03572abf-3168-4657-baa6-1c4502c1126f CLINVAR:941327 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f06b2a58-ad45-4726-9fcc-0f48d689bde9 CLINVAR:941327 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a45c8653-69fb-4ff9-8629-7db4ff2aa3d2 CLINVAR:1339483 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 419246e5-4bec-4fac-9b56-f68f5b4b7b04 CLINVAR:1339483 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef1ac7d-0735-4ce2-9926-7c6e3fbb7374 CLINVAR:429640 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e569ec41-c80c-4ad9-b1e1-4b073d592a04 CLINVAR:429640 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b500715-98a5-4cfa-b703-fa96eb904158 CLINVAR:36169 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ce4129fb-4a2f-41b6-b932-4f966d2eb0a0 CLINVAR:36169 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abe3c54d-0091-485a-91a8-08c25b463963 CA367400637 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2234d006-ac2b-4457-a4ec-cb45c2b8ec57 CA367400637 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1f57ab3-2161-47fa-947c-7dbfee8af05b CA2529312623 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a0d3c6d-4874-4648-8c40-9429778f9be4 CA2529312623 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 556d3c9f-e423-4936-8272-66748fb52f1e CA367401125 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dff2aca3-6f51-4a44-a245-e7b37495535b CA367401125 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e0ee92d-4009-459c-950c-d9577c7fb8fa CA367403546 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f844af3-3c71-431f-b4f7-28f67710d40d CA367403546 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 561c1775-4d02-470e-85af-3056219ba726 CLINVAR:1335461 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 78d4bea1-8825-43d9-a761-d81fb007478b CLINVAR:1335461 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c30144c3-3e53-494f-b998-52739ebbe816 CLINVAR:456438 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5692981b-c832-4fc7-aecd-5b96a4c5fc6b CLINVAR:456438 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e833422a-2860-47e0-834d-9583776db931 CLINVAR:526525 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d34074cc-9fe7-4ef9-98a5-795cc910beef CLINVAR:526525 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3ab58cf-b350-49cf-a37a-7fd158ab42f9 CLINVAR:439746 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75b3dd00-c5bf-47c1-a385-a6718a7db66b CLINVAR:439746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9172aa1d-2218-4480-9cb8-6b3dafd85206 CLINVAR:282242 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 922148c0-f2a9-454d-9699-fb4742f76b5b CLINVAR:282242 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bf0be50-c4f8-483f-b9ea-361f003c3159 CLINVAR:284232 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfe97729-d7a7-4504-be0a-69ba6f96d918 CLINVAR:284232 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4913cfee-12c2-4c1f-bc35-1e54df6c4a16 CLINVAR:465141 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 52f8d5ad-8155-4577-b96c-4cf5d32cac6f CLINVAR:465141 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 662ab21b-3de0-4ace-9341-ac71484577e2 CLINVAR:533700 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc5ed64f-df92-4785-bdcd-391eb4710a11 CLINVAR:533700 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39c881f5-9edf-4b66-98d9-c46982b3615f CA2579916788 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b63d21a7-7240-44a8-90ec-86387f2ae8fc CA2579916788 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14258428-83a2-410d-9947-ff2b0c1b9f98 CA645287926 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a702be19-40c1-46a1-82e4-62c6f12605a7 CA645287926 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374b84b2-7a37-4d5b-a92e-f69fda31a738 CLINVAR:2031214 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bbe43101-b312-4f78-a5c5-ab06f6c978da CLINVAR:2031214 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f00eef35-d068-429e-8588-a8bab8bf9475 CA415084839 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f43ebc0-3762-4d59-8c49-a13443798693 CA415084839 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b81e50e9-13c5-4044-a07e-278732546411 CA415078334 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ff40bb7-e8fa-460b-913d-638cd3c4c2b1 CA415078334 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9be6a24e-b31a-4f6e-bd89-8b3797daa936 CLINVAR:917495 biolink:genetically_associated_with MONDO:0000456 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84ed76bb-d595-483e-a2b2-b82a37a4e8b0 CLINVAR:917495 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71a3cfed-484c-43a0-8573-806d158d778e CLINVAR:917496 biolink:genetically_associated_with MONDO:0000456 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07ba743a-6aaf-45e7-9fe5-c5a54470bc2b CLINVAR:917496 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f729620f-be3a-44b0-9001-3876dd92637a CLINVAR:36712 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca9d315b-0291-4696-8221-360b0e192c24 CLINVAR:36712 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e52196f-f521-4f32-9ce6-a9bb279d1bc1 CLINVAR:583401 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5961329-c9fd-414b-9921-887d14ba0d2b CLINVAR:583401 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20d4b760-cb49-49cd-9d8e-2c46f0d3f4ac CLINVAR:231277 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2b9da3f-e083-4fa9-ace5-020fb332d09b CLINVAR:231277 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b58162ab-298f-4232-a3d9-d7a3f4a05ac1 CLINVAR:135775 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f362797-9102-4e29-af4a-2267ba0f2f5c CLINVAR:135775 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 011af537-8057-4192-8ab3-fd702d5ec435 CLINVAR:181996 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 096cfe45-38e6-4994-bc86-d184fa95aded CLINVAR:181996 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7746ad78-3473-4976-a0e7-8aff537c3e0f CLINVAR:407515 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fdf8afd-0d89-4f4d-8869-c75c8119478e CLINVAR:407515 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50a0fcbc-e393-4815-90b5-962ce3ffedbd CLINVAR:407510 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 10555aae-a676-4007-b151-12c5ff6e3e73 CLINVAR:407510 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95add02a-c3f9-48bc-b5b7-c95dd65bf2fc CLINVAR:229794 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 51cf2df8-6054-4500-a8ba-ea024b7edcf5 CLINVAR:229794 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 408e9314-450a-42af-944a-8f197e9a4801 CLINVAR:127459 biolink:associated_with_increased_likelihood_of MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 91a8fcfc-44dc-4ace-a329-b1576e54ce95 CLINVAR:127459 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68881816-b2cc-421f-8097-e803f3a81f3f CA382533339 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0696c974-8a00-44be-bc17-201121ccc701 CA382533339 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1d05f39-4b05-4200-a251-b69ed24279be CLINVAR:569567 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c448d99a-433c-4608-ab73-374e79460055 CLINVAR:569567 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91f8dc0b-5512-4293-8cc4-59c735437c49 CLINVAR:1713223 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a8e20a2d-168b-44ff-8b91-f58be68dfb4c CLINVAR:1713223 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 272a08b7-7c1f-4172-a38b-348e72bd80e7 CA382556814 biolink:genetically_associated_with MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01083c4c-9ac7-4312-b3f0-97637ed4ce25 CA382556814 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df3d735-0d59-43f5-8fda-35f6efd28008 CLINVAR:220121 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c57f691-f877-4057-ae00-3cc78eff3795 CLINVAR:220121 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa68960d-3d0c-4360-a27c-a0ea2c75c6ee CLINVAR:265634 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cfa3bfb-5587-4365-bc4b-ac3529da4cd9 CLINVAR:265634 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a5ff76e-1dba-4592-9025-b69c281c00ea CLINVAR:127405 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 725799df-6935-41de-84b1-22f5a9fa7e81 CLINVAR:127405 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ead8d38-cf40-4283-8407-60ba930eb88f CLINVAR:141887 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96cc3254-484e-40c1-acc8-f61d73cb89b0 CLINVAR:141887 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914e2ade-ff74-4022-9291-7ad790356427 CLINVAR:141474 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46901ded-c2f6-41a7-8d30-b65ee7c77327 CLINVAR:141474 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5c7d775-cce0-4cfd-b326-5a03bec6e9e4 CLINVAR:141742 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68409b00-60e3-444e-be1a-f46af50c53c2 CLINVAR:141742 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1f5ad12-d14d-4056-b309-b7ed5442a3e7 CLINVAR:216021 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 76345e74-9f76-4920-a6de-530b35f14411 CLINVAR:216021 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33270904-25ee-436e-9991-d614794cdc9a CLINVAR:556315 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ea19ed5-be21-4918-a92d-677644a22544 CLINVAR:556315 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13fb85ad-93de-4ad3-a08d-bf3987b698fa CLINVAR:127463 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61ea3a4f-dbb6-4a94-84bc-09409c370727 CLINVAR:127463 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81cb4217-2dd0-4bc4-a12c-5a5c30a037fd CLINVAR:989764 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dff283e0-aa5e-49fc-9a06-3eb98dc311a2 CLINVAR:989764 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3c6c9a8-7619-4372-a4b0-2f7e6b3a0fe6 CLINVAR:1515797 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0265cfd5-59cd-4eb1-b9c0-91e32d1bfd18 CLINVAR:1515797 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afcff605-783f-44f7-8e70-48885e4762a2 CLINVAR:1057857 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c895aa3b-5e0f-4aa3-8691-9cd479760aaa CLINVAR:1057857 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c501dd1-da63-4fc3-9dc5-e65451a86f9c CLINVAR:522770 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6825ef97-74db-4966-be56-990414a82ce0 CLINVAR:522770 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb66155-085b-4f98-aa45-d382d8e0fcc6 CLINVAR:1015913 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e7debd3-5b0c-4134-944f-262357e43f7c CLINVAR:1015913 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0300d4ea-206a-43a9-a269-27d4efd79896 CLINVAR:847561 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d21ace50-6fc3-48c6-80bc-4b08f5287942 CLINVAR:847561 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c518c68a-ae8a-488b-b463-4382c537fbf6 CLINVAR:2440718 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f6dc4b2-c95b-4633-be41-bff84b1b3af6 CLINVAR:2440718 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 707245c1-b0c7-4a5f-966d-9cce6ba18e1c CLINVAR:877154 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ab75acc-453e-469f-94da-08a11a01c94a CLINVAR:877154 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8799831-6c80-44cb-b8f4-f015f42ecd28 CLINVAR:1438768 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31526b5e-f9dc-4c68-8211-abbdae730cb3 CLINVAR:1438768 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a43aeaf-7aa4-40f5-bce1-bcd20f883207 CLINVAR:968725 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen acab2c75-f20b-46e7-a02a-0bcb494078f2 CLINVAR:968725 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7b67f1d-78ee-4d01-b2ad-489a1716a3a9 CLINVAR:2199693 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a09c7a53-7195-4235-9cfa-d275c9407df8 CLINVAR:2199693 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4172cf93-56e6-465b-adf7-71072685a978 CLINVAR:633185 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e32cbced-3686-4d10-965b-f319e400d104 CLINVAR:633185 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e469c16d-39b8-4751-aade-b52102591d19 CLINVAR:1515264 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e38ae9f4-9887-473a-952f-6955ab0964ea CLINVAR:1515264 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 934418db-3b4c-41c7-b6a4-4cd2d1bb35ce CLINVAR:655337 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e801a994-bc78-4f60-acaa-0212daf0899c CLINVAR:655337 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69998fee-0153-4c77-9e99-889b31c4f537 CLINVAR:1434035 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 798d9ddb-75af-467e-a013-e2ebf524aef6 CLINVAR:1434035 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b44f09e2-8942-4d6a-a00b-5ccc6237d039 CLINVAR:536367 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a37c565b-fc43-4685-b966-86de895658c4 CLINVAR:536367 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9c77fa5-e14f-4f30-9194-eb59b9adea59 CLINVAR:648095 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 261c5113-65b4-4633-b77c-de1ca6414081 CLINVAR:648095 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d763a96-037a-4b95-b00e-f041ef0cd70c CA1139771319 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b66b6712-92f2-4194-a58f-34ee206a54f1 CA1139771319 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dded4e91-b47e-4d17-8481-db7368e042d9 CLINVAR:281715 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0bea6665-2ac7-45b2-9b70-61f22ff59d4c CLINVAR:281715 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8427a37-c3a0-4ccb-9fa2-3482e1791174 CLINVAR:98889 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 884a4086-3bfd-4184-bb70-01b1eae56697 CLINVAR:98889 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a55cca03-f7f7-43d3-afff-861697e5ccba CLINVAR:1069898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 399ce1e7-5004-422d-abf5-d83ebd41ce02 CLINVAR:1069898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79119f50-da05-4c40-9070-35e927adce16 CLINVAR:98888 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e395fc7-8d88-4084-a23c-8d2273f02de0 CLINVAR:98888 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a617b21-bfed-4d60-a2f4-1262fd01dfc9 CLINVAR:658837 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7897d3e1-3c5e-4308-88ae-bf4665cf87cc CLINVAR:658837 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 922e7fae-e100-4891-acff-dab8248d79e5 CLINVAR:421620 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c9fea2dc-8f86-46d9-a519-b6433a5ba09c CLINVAR:421620 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b74419ea-aab7-4e25-8998-e55bc7048b58 CLINVAR:870342 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 534ba829-fe87-44f9-87b2-05ae5a1191ea CLINVAR:870342 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2c62f3c-e86e-4e1f-a523-db7a5c705091 CLINVAR:962032 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7dbc117e-20fb-4fd3-b16f-a417c2054f1e CLINVAR:962032 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 975c88cd-09dc-4fc1-8cb1-9b970c1b030b CLINVAR:298021 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen deaa4a41-ecd8-47d8-b35c-9ce8057db669 CLINVAR:298021 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d5c60a-97aa-4547-97cf-8243334f62b6 CLINVAR:876133 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c773f497-e8ff-4fcd-b4ea-6f97b93262a0 CLINVAR:876133 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e3933cb-f4d7-483e-be13-818473db6b6d CLINVAR:1026379 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 579c6bfd-d99e-4e32-aeca-0c93f42f6243 CLINVAR:1026379 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96bd4386-e2ea-49aa-89fc-a5273e539eeb CLINVAR:874234 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc98cc9a-d86a-47b1-af8c-e84e92dfb966 CLINVAR:874234 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679b5fb3-9a74-482d-98e0-4cdb87991672 CLINVAR:627224 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fcbf769-a184-4229-bc3d-e8bbef12b90a CLINVAR:627224 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 222191c6-6d60-4b80-ac46-9b21225b55d1 CLINVAR:1170692 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2b64220e-107f-48a7-a995-01a9cfcbc7be CLINVAR:1170692 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 112265e1-94d4-43f5-9bb7-fa88e28a1571 CLINVAR:529741 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3676e28-d443-43e8-90d4-f14a8ec8d380 CLINVAR:529741 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bb5c54f-d233-47bd-b09e-47674643134e CLINVAR:18004 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8b099b9-2268-47e5-9ea4-bf6d56dc5590 CLINVAR:18004 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcb32086-6cd1-4d7e-9b8a-11a22a5f8758 CA343772379 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7cd3fef0-6f0a-4ef9-9548-987c2a178e3b CA343772379 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfa0fe92-7aa9-4508-9e0e-8aad6b0d8f97 CA343772388 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ea26f54-aac8-47d1-917a-6bc566283b90 CA343772388 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ce7717a-9c2a-4306-80a4-6affe3698755 CA343772391 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ad060de8-8816-4484-b1cc-e7ac8b4497d3 CA343772391 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1f7935-6dcc-45ff-a317-18f6899dfcbc CLINVAR:1954374 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2dda54d-5cb5-4630-ab85-78046c41ea45 CLINVAR:1954374 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a552759-3219-4881-ba33-08b1687d0764 CLINVAR:36232 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b917b0c6-bcc3-48bb-974a-4f4fdcd6132b CLINVAR:36232 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b677f9f-2c02-416c-89f2-cf53162993a3 CLINVAR:1213917 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f2cdec01-95f3-427e-ad2f-b493a29efc1c CLINVAR:1213917 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 490cb9d9-ff8b-4af1-844a-f1cc3326c0ed CLINVAR:13118 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5384c30a-6f8b-47b7-b012-12d83d6fc4e5 CLINVAR:13118 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16781ad5-1765-4b95-93e5-79dcbdc84ec2 CLINVAR:98860 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d37a2711-4f5a-47aa-bbb6-ec08d9a9a69b CLINVAR:98863 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 65d3ca57-7bae-40d2-8f36-922320677612 CLINVAR:98863 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84d127c7-a75d-4362-8ea8-94565f82cdf4 CLINVAR:2110257 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e792f15f-5e7b-49e9-9627-09d47a611c56 CLINVAR:2110257 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b468ad1-b0c9-4f1a-a76d-bdb7f92272a4 CLINVAR:372493 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b2fb5b1-4c2b-4c64-98d7-816b4541e422 CLINVAR:372493 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93aea202-35f8-4051-9ac5-8fd395a0416d CLINVAR:98898 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 887b9cbb-94dc-436d-88b8-b7e0f57a8a57 CLINVAR:98898 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ef91231-3d6e-4dd4-935e-438feeaa13e9 CLINVAR:559521 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf5c81e9-30c7-4d4b-b3fe-fbb11ee341fa CLINVAR:559521 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7246922-688e-4950-a990-47aec26a2bd9 CLINVAR:427864 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8437d4a-ec37-4ae6-a843-b1eb09d6dac9 CLINVAR:427864 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fad12738-62b2-425b-8b45-b1370286873c CLINVAR:29870 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bb8561b9-5796-489c-9b00-e944285871e9 CLINVAR:29870 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb00a0af-f0bc-4e9d-acf1-81bf7632b6e6 CLINVAR:29872 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dfdb6248-4a8f-4c36-bf3e-9c3dd3479ddb CLINVAR:29872 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1fd80cb-74cc-45d1-9204-b7e6d5e047ed CLINVAR:374497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 859d2691-134b-4a63-bd5b-6072f9d39b73 CLINVAR:374497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff623e0f-e403-4ab0-9987-a53fa5e7596f CLINVAR:744318 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dafe4172-4761-4dce-b1d9-5e928ae6daef CLINVAR:744318 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8990dce-70da-4a75-b700-32a81f12328e CLINVAR:560497 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2cc44412-b86b-4952-9eed-c9b4d1135398 CLINVAR:560497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ae042c9-4211-4928-9e50-5e3e8b5201cb CA500436058 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 408741e9-3407-4d6e-b4a4-6c504eacec05 CA500436058 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8833446f-dcda-4987-a375-cefc2b5397ab CA500651220 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4486df12-b51f-4e68-a58c-d1aa20d949dd CA500651220 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99bad968-df4e-407e-a040-9f7d97e0841d CA399791611 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7704ab86-5243-43c7-81b1-6fe52d27368a CA399791611 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf6371aa-7a58-4820-a674-9979bc2cf8b0 CLINVAR:98826 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7c4aff60-613d-4605-8f9c-fadd903c3c36 CLINVAR:98826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f19befa-f39c-47ce-8899-79c253b6c4a4 CA399803382 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c5d326c2-923d-40f7-b28f-ad45d7f046f7 CA399803382 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 207bfc19-1c72-41cb-98df-daede14a18de CLINVAR:323557 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03480ace-b247-4066-b515-0c0ef0998c2e CLINVAR:323557 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 748c6af9-ad8c-4226-97f6-2d9399116776 CA915940777 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 261512c6-40c8-4419-9f62-d498420760e0 CA915940777 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6722867c-508e-4aca-b618-80bc50262e80 CLINVAR:1677036 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aeb98f2f-1576-4360-8e70-dac8a92b334b CLINVAR:1677036 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84584949-1b9d-40f9-b68e-dabd64b4ab30 CA2497030194 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b128d1e0-ff00-4d87-b35f-1e4d127fc43b CA2497030194 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01ed908d-5ff3-48d2-8474-bf6d8059335f CA2579753976 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02e16bf2-c96f-4bfa-b837-ecbc731a89c8 CA2579753976 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e919e5be-cc1c-40d9-a2c6-bff5ede0dcf7 CA340747756 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8fc126c-b62e-4d2d-8829-ccdca69b7bfe CA340747756 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96554b1d-00ee-42b4-a196-9dbeea9a897a CLINVAR:801497 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1f522557-b69d-4f77-85f8-a2c8d5201b8b CLINVAR:801497 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 388da670-8760-49db-aa6d-c9fcc73c8826 CLINVAR:1117757 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8e469cc-d807-4c08-94e6-e2d82c9bf6d5 CLINVAR:1117757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 696b19d1-81c8-4673-9e9b-560e7bfe044d CLINVAR:1468758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f72f532b-4fbd-4200-9a62-9ee5ee318954 CLINVAR:1468758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f08f6f1f-581c-4898-bd19-cad1f7987ec5 CLINVAR:875116 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73664457-c78d-4a2d-8bb4-40f8689cf22d CLINVAR:875116 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1cc74d4-0236-4c31-a16e-2af4b2c89ef8 CLINVAR:13120 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2869cabd-d74d-4d7f-9545-c9113ed5d848 CLINVAR:13120 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34b1bacf-8673-46bd-ae80-e1380fa014ea CLINVAR:1438062 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8adc8239-fb12-4ca1-ad61-074ecebdeac0 CLINVAR:1438062 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d6f317c-39c5-4b0a-9721-d2d2cb65c7d6 CA2580612187 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e3dc9ddb-65a8-4368-9af6-6c7c47af83aa CA2580612187 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26fc8a6c-19d5-4149-bfcb-3c11d75af807 CLINVAR:98857 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6f307828-a71e-4c3a-826d-ff13e257319b CLINVAR:98857 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc7f55a-2a1e-44f1-ab92-7cfd3ae8781c CLINVAR:1030779 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1df3138e-d4cf-42dd-83c9-76c9d48bfd25 CLINVAR:1030779 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeeab860-37bf-49c9-940e-c3f06e8de34c CLINVAR:1068757 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c25d4938-4b6b-4643-a817-bdf99187dfe9 CLINVAR:1068757 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3503ec0-b826-4be7-8160-c6856b25693f CA2586966742 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 680632ac-13b1-465c-ac52-8af7207ca028 CA2586966742 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea4d5d79-e982-443e-a960-e4261f975189 CLINVAR:870343 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 90286b6b-6009-46cf-9292-9817282969c4 CLINVAR:870343 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9da72cac-ed7c-4d5b-b5cf-01b7fadb2d7c CLINVAR:98866 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 653aba95-2474-4860-b6dd-1a41e6568584 CLINVAR:98866 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen abbbef3d-1229-43fa-89c8-f9a60640137b CA340745588 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4156eb1-e7a7-4b6f-b742-5b1391767ac3 CA340745588 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5133502d-00f3-42ae-9965-c95a05ad6247 CLINVAR:488726 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 638a924c-303f-4ae8-84cf-5ba223532f35 CLINVAR:488726 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11d12843-2765-44a9-bdb3-b1853de7351c CLINVAR:1901178 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8d1bd90-d744-4f32-b563-090d4484684c CLINVAR:1901178 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f33e46f-4f46-4c28-92e3-bf8cb848d3c5 CLINVAR:984454 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c948c85e-0404-4df8-9ac1-b1c23590633c CLINVAR:984454 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c1be834-38ba-4cf1-8fd5-a16cddbe8bab CLINVAR:933853 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8b0d7c8-116b-4ecf-96cf-6800190067a8 CLINVAR:933853 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98a009c5-d3e4-4adc-b2e0-ce792b9e2180 CLINVAR:1459771 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e48eb9e9-9ae5-402e-9c15-edf0bf2e0435 CLINVAR:1459771 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed6365e1-3f54-4d20-932d-a329a02c5786 CLINVAR:863482 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen faa3846e-d18b-4ec3-a903-b82a532b2deb CLINVAR:863482 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen beb0c196-07a9-4aac-b0c7-7f3fa1c33959 CLINVAR:519783 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 41b603ae-b67c-43f1-bbed-8ee27a142bab CLINVAR:519783 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 724ad872-f149-412a-a063-a760e5b47316 CLINVAR:632819 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1d67478-14be-4e64-a832-3e77547772ef CLINVAR:632819 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13daebb8-96be-4e08-8dad-f0011c9834f2 CLINVAR:495629 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7109d1e9-ea48-467f-acb6-ae434c90f655 CLINVAR:495629 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e55e4065-cc19-43e3-a8e8-058ffe57e1c4 CLINVAR:42391 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2414e2d6-57ab-4ab5-b721-9e3854c81e5b CLINVAR:42391 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0491345d-9808-4cf6-bcaf-d6916f34fdf5 CLINVAR:547334 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5cf40aea-28f1-4a7c-bd18-3be826bdbf5a CLINVAR:547334 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c9269ae-e287-47c6-95c0-3a27230ba87d CLINVAR:570737 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1370555c-587f-4178-a11e-470c5c6256ea CLINVAR:570737 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b8f392a-3c0c-4686-ba9e-a5450dd98ea2 CLINVAR:638559 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f8645c50-6f10-4ad0-9d6c-2748cd1630c9 CLINVAR:638559 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60c27f75-ec05-4724-9f7d-c1312eb01832 CLINVAR:263898 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d02d011f-5ad9-4f9a-b696-c280fad5d316 CLINVAR:263898 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c492041-6153-4576-9f24-bf2f6d77ae92 CLINVAR:200167 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc740445-b0d7-438b-ba63-ef5448d032fa CLINVAR:200167 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 540ce02f-4207-4ff3-b10d-ba00a7e7bdb8 CLINVAR:1746353 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00a64268-5497-4595-a8c1-aecab14c2e4f CLINVAR:1746353 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76b46ff3-8951-4d39-86e4-c8868fbb62de CLINVAR:1679555 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8993f101-d1ec-4665-b1ea-bd5881d24993 CLINVAR:1679555 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33f3def1-4469-407e-a408-5cdb6e0f887a CLINVAR:21075 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c62dddf1-ff3d-4283-a13e-06c0afe69a4d CLINVAR:21075 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90e33547-0381-4b37-8484-fd5e387ec0e6 CA367401686 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3257c86-89a4-44c0-89fa-1730beaa4f0f CA367401686 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec21fbb2-6d81-4eda-bc17-e373fc8215b9 CLINVAR:1746350 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc891bfc-a126-4541-aa49-12565b07cd14 CLINVAR:1746350 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 992583f4-70b6-415e-9b13-faf6418c9841 CLINVAR:198050 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eae43eae-9d16-422c-b01c-96059ab0f3ae CLINVAR:198050 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 397f6ee9-968d-4cbb-a0a6-c936a57e120b CA2580612107 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 11ab8e37-8c79-4ea0-adbb-f09341ab6cb5 CA2580612107 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 703088d9-ff1a-41d1-8ad1-d07f686c9092 CA409105441 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ff3d960-4f56-49ab-8fb5-4562b243be43 CA409105441 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a5e1314-5616-4dd7-b577-89f15c5ae194 CLINVAR:13136 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 97148015-c5b3-42ae-9806-343aea0d0820 CLINVAR:13136 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e1172a-cf73-4c0a-a184-2052addabd7d CLINVAR:418449 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e20ede0-0039-43e1-a4f6-12d4a9378c19 CLINVAR:418449 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c49acd38-09fd-485e-a8ce-9428e5ab69b3 CLINVAR:1050623 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa6767a6-273d-4449-bd6b-1d2746ede05a CLINVAR:1050623 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa24fbe2-2944-493b-b573-cdbc72ef3836 CLINVAR:551588 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8f3c6349-93fe-4732-a90f-e886686957e8 CLINVAR:551588 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e74b9754-873e-4725-a412-54b6fc5cfb14 CLINVAR:941268 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1b8a617b-2813-4cad-8ed8-459e8beb4c5d CLINVAR:941268 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b1fd58a-6443-4fae-bed0-42a121015b9f CLINVAR:449935 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83ff2684-1ea9-4ddc-bcc6-e03d56d907bc CLINVAR:449935 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f1107c6-32cc-4b03-aa26-2c2bb8aa46a8 CLINVAR:203597 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75e9b440-e783-4bf8-b2b9-f310429b56cc CLINVAR:203597 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73ea23e4-ef3b-46b2-9eee-90f1c425dabd CLINVAR:617950 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a20f806d-6ed7-4edb-9447-0ff511e96360 CLINVAR:617950 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44e3374e-656d-48ec-afc2-85d2e511b9a2 CA367398695 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52c75c6b-2dad-4854-be94-f9e297b9a53b CA367398695 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd373c26-d20c-4527-9252-83e872ae347d CLINVAR:36182 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68da0162-7190-4cc4-b9ef-8199deaae0a7 CLINVAR:36182 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9558983e-9931-49ee-97b4-24c1c15d8bea CLINVAR:36181 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8ce3358-7b66-454d-af6f-84a00d7be6c5 CLINVAR:36181 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a33c53c1-6bf2-4082-8647-a8df3042c5b0 CLINVAR:236014 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 465fc87b-4d82-4abb-8774-df5ab6a207d6 CLINVAR:236014 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38575f6e-1a16-4082-a5b2-c729bdc5fa5a CA367398735 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6019a063-d1f2-4766-b2fd-b8ab7bdc9de4 CA367398735 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da4c6971-2318-43d2-90f0-ad541e35f5b3 CA367398738 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f51a69d7-f793-4e65-80d4-5fd2e6754119 CA367398738 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a117c033-f481-4041-bb47-6887ee45058a CLINVAR:39759 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 367c0719-b70c-4b80-a916-0030233787a5 CLINVAR:39759 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 170a4809-ab9f-4631-aea7-a44cb90fb74a CLINVAR:1685327 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07476e02-95cd-4559-9637-dd16fc0cf61c CLINVAR:1685327 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc8e9584-86b1-49e8-abf4-bc2231b6fa72 CLINVAR:16134 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d1b8ee4-0de9-443f-887a-04b811e83f72 CLINVAR:16134 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a0d1965-10da-41ee-a61d-8e4bcd43ff83 CLINVAR:393450 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54af0c10-cebe-44f1-9ff5-306f2d9da53f CLINVAR:393450 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a745312d-e72e-4cee-953f-9cf73fe1c2c0 CA367400787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 81e4f209-dcc0-4ace-b111-29789a1e1aff CA367400787 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a709ce1-e114-49c1-bd8b-45a6957aafa9 CLINVAR:447413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ae98295-8cf5-4e7e-b46a-5cef7576f57e CLINVAR:447413 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32be17d8-14b2-4b03-b556-950cf569b0a4 CA367400788 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen af158694-45ca-4691-980d-e332e25da195 CA367400788 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3444bb2f-a47d-4b8e-9500-0b3c3cb9323d CLINVAR:585924 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 439bc6bb-20b8-404c-94ca-99f718f7748c CLINVAR:585924 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 445d5110-6ce6-4b57-a6cd-f1bddecf850c CLINVAR:36241 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f5a048ca-afc8-4a84-9c6b-49a7a02c26a2 CLINVAR:36241 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05fc1ac3-5903-4e2f-ad95-1f2603559b32 CLINVAR:1704126 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c4368eff-ea45-4e79-9772-6ce4d83be60f CLINVAR:1704126 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f557079-4ac9-4b93-bf8c-fc776816bb67 CA367402147 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a5ea60f4-c31f-42b8-8260-72eeca89cfb4 CA367402147 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35d7b568-fc75-42d0-b6c9-38864305ccb6 CLINVAR:690481 biolink:associated_with_increased_likelihood_of MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e9774c62-b6e4-44cf-b9a6-f1dae95aafd6 CLINVAR:690481 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c679ae0f-4cc8-4b1a-83cb-c698fd0c5e5f CLINVAR:825804 biolink:associated_with_increased_likelihood_of MONDO:0017288 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 394ed789-6b5e-4200-8142-6ee2bf436f21 CLINVAR:825804 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bcf9e145-486c-43d3-9a96-1c2f4a4df208 CLINVAR:480386 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c958cfe8-c2a5-487d-a5c8-39df5a3b56bd CLINVAR:480386 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30857eb6-1b3c-4c6d-9393-ff40fb50a31a CLINVAR:492727 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1448e963-f7a6-4de8-8534-aab477071a1d CLINVAR:492727 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33af406f-a433-4254-b95a-e8dc46077e14 CA377781872 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5c4d50de-6e25-4092-8fab-8566ea94d4ed CA377781872 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bbecd21-a756-41b2-a47f-b2b9d1df9ffa CLINVAR:936561 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19679736-a107-46a1-be59-8771f0521305 CLINVAR:936561 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b21c83ec-872e-4228-ae12-bf68cce89ab3 CLINVAR:1691744 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d34a6ebf-4cb6-4a2a-a5ab-6d6874b84596 CLINVAR:1691744 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffea5178-7a0d-4a37-a63d-aa9ca083339b CLINVAR:1182096 biolink:causes MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b9908cf-a28b-4179-aa1e-75b3343166e3 CLINVAR:1182096 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93a44cab-067a-4976-b9d0-9bd1b471dff0 CLINVAR:189481 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29323b3e-5c75-4250-8583-cf1639b96166 CLINVAR:189481 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2d748ae-5212-4bb3-942e-f3840aefb2ff CLINVAR:468680 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 46a04579-2c07-40db-9009-62af77fe8dab CLINVAR:468680 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09253982-e000-427b-8905-aa5f4ec5f708 CLINVAR:967900 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc389b9b-6316-4a7b-8f09-f77f21c88be7 CLINVAR:967900 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18709699-1264-49e5-9d29-e1c7d0845856 CLINVAR:13141 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 858d0656-dddc-4694-9eb8-1d37dc0fc685 CLINVAR:13141 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 269e7d63-f400-4273-a8d6-00586941f76e CLINVAR:2019436 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 83047702-7e1d-4716-9af1-0d11e699e3f5 CLINVAR:2019436 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18df2409-4292-4ba3-bd4a-6e0592700d2c CLINVAR:936307 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 957ef947-d2bb-4d47-91c6-f18210a3f703 CLINVAR:936307 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d7bf56a-110d-43d5-aacc-e16903e26cce CA367402227 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a00652ea-62c3-46e8-accb-6481bae5fa9f CA367402227 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05250fe6-5b4b-40a3-b8f6-bd3303120117 CLINVAR:435307 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0dd8a86-21fb-475e-a3af-0cc1685c8b5e CLINVAR:435307 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb5d23a9-1573-4faa-868a-838da897e13e CA915940582 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9c544c7-62ff-4a34-b02d-606f612a5663 CA915940582 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 678cec03-ad20-49f4-9446-f395ea18d7ce CLINVAR:323558 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24a841de-6428-4689-a626-2e1a37cce1b3 CLINVAR:323558 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aad3a777-382c-4bb2-8bdf-42383f3d479f CA399805605 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 890efe2f-8224-41f8-9011-2d930f3de1f2 CA399805605 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9628d136-fc18-4bf4-907d-1a5d7b7a4051 CLINVAR:892303 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 724255b5-b0a6-4d36-961c-be312a28ebe4 CLINVAR:892303 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa4bd97a-9bad-472c-a50b-881e2a016445 CA400021913 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 11303d21-d954-48b8-a391-78248cdcde66 CA400021913 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f766e5c-d782-4289-8cc7-ef4c1773026c CLINVAR:891087 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84abee10-f7cf-42cd-ad10-af71ad83f0e6 CLINVAR:891087 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20b11c9b-e361-4a54-8c32-04d17259da30 CLINVAR:627063 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1312965c-be35-445a-990e-93c0ba2f093f CLINVAR:627063 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d845e8a-4e8a-4b35-9b14-fcd6842d00a4 CLINVAR:654335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ef6382c4-a94a-4635-a551-afbc41616725 CLINVAR:654335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60d0af72-3393-466c-b819-242fa90e3d45 CLINVAR:952576 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7e4bb08-1770-4369-bceb-6533add6df24 CLINVAR:952576 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5635075d-e300-4e24-a71a-732114e8b76e CLINVAR:4673 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03287f71-13db-495d-9973-6d1fa77a8cde CLINVAR:4673 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adbf2471-fc0e-4f0a-9e28-8bbfa248bf7f CLINVAR:1322192 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b06d11c4-6543-44de-958e-723e17c581d4 CLINVAR:1322192 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c94532d0-159c-412c-ba26-99c889169930 CLINVAR:657472 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 182141c5-6d3f-47b3-9209-d3d5154898c8 CLINVAR:657472 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7897601-0204-4e08-a107-38eb99646e57 CLINVAR:2136850 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63c5db4f-1bb8-42b3-bd17-9a60039cc22d CLINVAR:2136850 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5c44032-5ddb-4de8-bdf9-8303c4b0d9f9 CLINVAR:852821 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3db90869-44d6-4130-b095-bcdc8182e7cc CLINVAR:852821 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b190ec0-466a-444f-9f6b-f53cacd923cf CLINVAR:2150998 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b8e24de-7b43-4b68-ba30-4cd269ce9368 CLINVAR:2150998 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f5ee972-a245-42bb-bf01-a67cfea9b378 CLINVAR:1041357 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a1fa9ff-601c-4f39-aee5-05a8d79e1039 CLINVAR:1041357 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 935f6b23-2b1c-4026-bd8f-330193c1b4e7 CLINVAR:556878 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0bc098f5-bfd9-448a-b6ee-a084a36a0921 CLINVAR:556878 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6a652da-d39d-4742-a00d-b1e604bfb871 CLINVAR:225196 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5427728b-0a75-4e80-907c-50312f7ffd7d CLINVAR:225196 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4868393c-1288-46db-8a88-16f7f60cd8d6 CLINVAR:225194 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb2631f1-4d7d-40b3-8d50-d5a20397feae CLINVAR:225194 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a16fe1f-9d31-4b0d-ab2e-a00cc68880aa CLINVAR:947759 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5e9f2f55-169e-4cd0-8642-6e7a6ccb3c04 CLINVAR:947759 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c1ae688-6975-4bb1-89e4-93fa2934fa9f CA413496512 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fcee66d0-7650-4c29-8083-e718fd5efd72 CA413496512 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3801e8ec-7769-499f-bb86-5609b7fac676 CA2695202143 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 794aa55f-0788-42ae-8d75-7aa6aead37ca CA2695202143 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 968763c6-1fc7-4acb-95aa-7fcfb3bfff68 CA2695202151 biolink:causes MONDO:0016419 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8c5aac8e-2b0b-4b6a-bbcd-528391e7b800 CA2695202151 biolink:is_sequence_variant_of HGNC:795 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30b58088-e2ca-44f8-8e58-479456302d58 CLINVAR:585919 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d958708f-1d1a-41b2-aa16-c759a109af4e CLINVAR:585919 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bfacc97-ba8a-4c8a-a3a4-a8bbc255fbde CLINVAR:973191 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d71e032-b36b-4a3b-a75a-4a4ae19a7660 CLINVAR:973191 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c51dca9-882b-468e-a58f-9ea452fc07d2 CLINVAR:447397 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cbce6241-c0b7-476b-854a-69dcb84d880b CLINVAR:447397 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a192a19-8a70-4d36-ab16-54f2227a4258 CLINVAR:522504 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8618a4f3-7a54-40fe-a297-f408213f985c CLINVAR:522504 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 397c3725-f2a8-4e3a-b39c-7765f3b5a651 CLINVAR:162369 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ca50355-7d77-4590-bd91-07908e07686f CLINVAR:9654 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93d195e2-46b4-4be9-a69e-d61df93545ec CLINVAR:9669 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2bcefec3-17fc-4c45-a8a4-80f09f106f06 CLINVAR:9668 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ed4cbeb-9564-443c-948a-236c06a0508a CA367402547 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4cc8f80a-a015-4be5-a2cd-f008d0976b8d CA367402547 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6845facd-bef9-47b1-aff7-4b4d9b085bfb CLINVAR:407115 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e0569b1-a096-47e0-baa2-30488b7aec6a CLINVAR:407115 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2da10ed-40e3-4407-9681-152bc925f561 CLINVAR:435060 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 84a90e5d-0feb-4516-ad5a-c88f9813386c CLINVAR:435060 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e59be4c2-febf-4e73-8072-6bc1449835ba CLINVAR:282707 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1260d80c-7385-4378-a05b-105b6093a067 CLINVAR:282707 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9336a4c6-2029-457c-818d-bfa9bc289e22 CLINVAR:458346 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 30c03aa5-5291-46d9-aa28-2fc5908a30f2 CLINVAR:458346 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05c5a617-3aa3-4125-b36f-036f94c233c3 CLINVAR:618625 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c9a3a6ad-b696-47ca-b4bb-6aacf0450be9 CLINVAR:618625 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 565accfb-49cd-4f12-a796-9b2a6662e5f0 CLINVAR:1352569 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8efdcce-d1a1-41a4-82ae-ad519836c065 CLINVAR:1352569 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b9a807-034d-4e15-a4ad-676864f39c7a CLINVAR:426118 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 428189d8-3bdc-47d6-b9bd-d533bdd070c3 CLINVAR:426118 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed658054-0c8b-4550-88ea-042a75f69ed0 CLINVAR:565574 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ff5f027-ad72-4a2f-ae51-56829f26c334 CLINVAR:565574 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0271787c-9548-4e9e-b57b-e4fedf6eb8cd CLINVAR:414302 biolink:genetically_associated_with MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e53bae50-fba5-4d3f-8eb4-f6fe8d525a52 CLINVAR:414302 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24389aa8-c0e3-40b4-9870-d26b6ca35b31 CLINVAR:8243 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f813276b-98f8-4fdd-a2e8-72cda6419a4c CLINVAR:8243 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3195015d-337b-4523-a875-f670bae66e69 CLINVAR:1744752 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2cc839e0-eb42-40ca-962f-cc7c10187df3 CLINVAR:1744752 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 655f426f-cbf7-4093-b05a-64316ca4b275 CLINVAR:811065 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b250b217-b05c-4df0-ab98-0911bf03e4ed CLINVAR:811065 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7deb870e-021e-4682-a54d-e02c3504f5a3 CLINVAR:657805 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6c9f18e-f50a-428e-8fd0-0e263da9020c CLINVAR:657805 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a70400f-f7b3-4944-81c4-a86ffd0b3d86 CLINVAR:994236 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 169e101a-a6cb-48a7-b9f7-ef58c8892f88 CLINVAR:994236 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f159ed-ca23-4655-b30d-ff4e9c4ca922 CLINVAR:848699 biolink:associated_with_increased_likelihood_of MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a081ae6-13ba-41d2-9999-9358d10758b3 CLINVAR:848699 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 155cef03-ad1a-4325-a467-4dabcd0dd93a CLINVAR:212802 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 99bbe4fa-83c8-4a5e-9a2d-099f866e12b1 CLINVAR:212802 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 18ceb7b7-ead8-4d6a-ad97-6b8ddd1914bb CLINVAR:1948619 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 081029d2-07f1-4168-8273-6d241d4e1baa CLINVAR:1948619 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 155023ab-0763-4921-8ec5-51a41c1c7d4e CLINVAR:411300 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73918932-8851-4a2a-8ef6-fda8f0527c38 CLINVAR:411300 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 111315ab-2757-4051-824f-7d4688bb1d4d CLINVAR:426040 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6d17bd7-84a4-4707-ad47-84c44f77e717 CLINVAR:426040 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36e17f43-5629-4627-8e83-10bc8ad66c50 CA605238909 biolink:genetically_associated_with MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66488529-5bd6-4f74-af54-df613f5e9ad1 CA605238909 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c7c1912-479d-4a1a-92b2-f05b23dbc238 CA2740089968 biolink:causes MONDO:0010880 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7b8c9c2-8dba-4881-8aa0-0799f06b3337 CA2740089968 biolink:is_sequence_variant_of HGNC:175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fa4236e-758a-4a47-862f-1c888bdbdda2 CLINVAR:237027 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 94a27bea-e8cd-4bc6-96b4-a21dca8b7437 CLINVAR:237027 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7efaeec1-e2f8-4078-9ad8-59b351cc443d CLINVAR:9664 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b3d1146-16b2-4271-9f00-62c2beddbddc CLINVAR:800503 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d5c0aa5f-6834-4222-8be5-b94d7c077131 CLINVAR:9686 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27b1c8cd-3ffa-4179-863c-2f65ed0af66a CLINVAR:693440 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c99c0b4c-dfb1-42bc-87bf-10d7465f9ed8 CLINVAR:156375 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86824ebc-3cba-4f3c-a33a-32ea0d448932 CLINVAR:9604 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5f1d6ac-9783-44ae-a1eb-72ba432f0837 CLINVAR:690169 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c170bdf0-5884-41a6-a3d4-4f6b9e19b61f CLINVAR:690161 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d3c1fea-0aab-4adb-b35c-9375315f90b0 CLINVAR:376098 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecb33915-e2d0-4feb-bf1c-b3c3d1b66048 CLINVAR:376098 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9a51dbb-8236-4a8a-8cc6-9675ff858c96 CLINVAR:451690 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 241c3fbe-ef1e-4f5f-8f9a-f9546b62d821 CLINVAR:451690 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b5a1289-248b-4f09-8daf-9ff740c25e88 CA367402001 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b57e9a36-1005-4e99-804b-764f4a9d1f81 CA367402001 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c75b5f3-838b-40b9-bddf-47e3cb15cc68 CLINVAR:36218 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen debc2dff-c448-423c-b54b-4b49946332ef CLINVAR:36218 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b248ecb6-89a9-47f8-83d5-bd7c98324b30 CA367401942 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e0fac1f5-5f49-4d3b-98a3-e32487966d7b CA367401942 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c944d3c-a7c1-4030-aacc-83907ebe0b68 CA2582131064 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d69e920-2268-401d-8d5f-affdeb706496 CA2582131064 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4c9f5c7-018d-4ab2-98ff-d0c5d518a9ba CA415077486 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b7a1a47e-f123-4924-90c4-bf4bd01e5e43 CA415077486 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e2d646e-4466-4bfe-8fac-eced16ad5913 CA2695201729 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aaaef9ec-bd05-446b-aab0-e76dee33c4c2 CA2695201729 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aadc7730-afd7-4a08-9eb9-e9df6cd30697 CA415079810 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b8dd727-c347-4888-aa7b-9f9606f95b92 CA415079810 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76744d1d-f747-48f9-8709-2989f11a2895 CA2582121421 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4d2b100-7fe6-4cb8-87ae-388b02af8f1b CA2582121421 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e0de84d-4d83-4891-8890-790d682c9742 CA2582121298 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ea5d016-9465-4c19-b8c0-6be32e421701 CA2582121298 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29579603-45f2-48c4-8a9f-024d34f28529 CA2582121175 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5992aa72-c37a-4c6a-b17e-aa81303cce77 CA2582121175 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 646c34ee-fd92-4dc3-bb0c-982a8bb87c5b CA2582120572 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d84e870-d84a-4d22-a968-b68c6c73938c CA2582120572 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c814b292-aa92-4f2e-ba59-e36d0548558e CA415083182 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b7dc8ec-915f-48db-b3ed-7ed8395b03ad CA415083182 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8c715b8-fada-4889-b59a-697d24b0e8e8 CA2582130583 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e2500e5a-15bc-4def-a25d-e9b920ac8122 CA2582130583 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33269e01-fba8-4086-b84a-145dda906023 CA337220546 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f640d60d-a4b5-4a92-8982-c3f12d189ecc CA337220546 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c20a0b7d-6aa1-43b0-beb9-90690c29562c CA415090852 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 728ab5a2-ef4e-4597-ac2f-2a2432ef36ba CA415090852 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a31b8c1-a69b-46c8-9a5f-529bb1890679 CA915940480 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 889200db-7f2e-49b3-927f-4a90f870081f CA915940480 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cee12e6-09c8-4d8c-adbc-1f4170241bb8 CLINVAR:11704 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c361de71-4d92-430b-9080-a0a15c45e804 CLINVAR:11704 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49f7794d-1a4a-4833-8389-f49f71f603ca CLINVAR:1303056 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1c004b7-ce44-4657-aeb9-189d11e89e70 CLINVAR:1303056 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e19b6e0b-f884-41a8-877d-ece3162f06ce CA415084403 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 757b778c-d7bd-44ad-89a7-3417a1bb396e CA415084403 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b941c32-f362-4fd4-827f-5be44f0d79d0 CLINVAR:2138757 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b019bf94-1ac3-4b8d-b411-382bf54a2e42 CLINVAR:2138757 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc96f4c1-6a63-4ca7-bf89-6e4c00fee9e9 CLINVAR:92288 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4fb2034e-8b48-40b1-a6dc-4dbc2386bf8f CLINVAR:92288 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42731834-1147-416d-af79-a3e97ae4e817 CLINVAR:432108 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 929c36db-f889-4cd9-aade-319574990ed2 CLINVAR:432108 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2195d8c0-a504-472e-8b19-a6ddbe442e23 CLINVAR:426278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3fa6f452-c312-483d-ba02-46416474b360 CLINVAR:426278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb99115d-b859-4644-ae54-479b130cf956 CLINVAR:92472 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5fa08e7b-87f5-43f3-a62f-41ad5e3ea05b CLINVAR:92472 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73e1ce4c-7c9e-4ad0-811f-96080f69b0c5 CA401366522 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b88c6f6f-083f-49d2-a245-4afb41157a73 CA401366522 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7fcef19b-c016-42a4-9ca4-63c84fee52b4 CLINVAR:1695383 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b668e2be-f462-4232-a3ef-9a6bd1df9025 CLINVAR:1695383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd953822-1437-409b-a571-49337df56cdd CLINVAR:1363605 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e23089c3-e50d-4d4c-a52c-92f1356ffb8c CLINVAR:1363605 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8deff0dd-39ed-4e39-81ed-ce4ca2d9bd29 CLINVAR:1897839 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c829e7e9-df6a-44db-9287-44a94bbd8dd1 CLINVAR:1897839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97e44356-ff7a-4c41-9ca4-f4ac4ed7a217 CLINVAR:2024194 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen abe46744-562e-403f-b3e2-47f9119f171a CLINVAR:2024194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b6c8f71c-917f-493b-831e-96f926896f1f CLINVAR:2018650 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0eafafe-e79f-4510-8e32-f28e4b4f8754 CLINVAR:2018650 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fcdc469-96b1-45ef-ab78-82b346abaaf9 CLINVAR:1996224 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dd792556-59d2-4632-b2d1-5b580f63b34b CLINVAR:1996224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b631afb-8fd7-4a02-82d0-910a90b27004 CA1139771135 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 29342e07-19a7-413d-826b-e989f1025afc CA1139771135 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7e4012c-93d2-40a6-9e80-64bea740d07e CA410203348 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46f11e39-7742-4400-a730-f4f15ce098b3 CA410203348 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7af53fa2-c9c7-44b7-951d-f62239ab52dd CA1139771058 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ecf73164-9ae2-4d91-ab2f-3fbe89b2f3de CA1139771058 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56a8ca8f-d1ba-4174-96fb-3834e0bc7797 CA1139771067 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2328187d-6fe3-4804-8c28-1815f0e08e9f CA1139771067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 313ad325-362b-46b2-8cef-6bd160015c61 CA1139771059 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e0b15234-217f-40cf-ac5e-98085af12fd5 CA1139771059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 546f35aa-8ce6-4d93-9cf8-e6f8960ae1c7 CLINVAR:972746 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e087e3b3-9569-4eff-9f7a-5947f1594310 CLINVAR:972746 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97d01804-e3a7-45b9-9c9e-670f5d73077b CLINVAR:371277 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc866400-4957-4e37-a450-2692521dcf65 CLINVAR:371277 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 411a47a8-c9ff-4276-9e34-4f1a38c0bbfb CLINVAR:1219617 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8a3ad33-9973-41da-a65a-33697c62d354 CLINVAR:1219617 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e495c23e-1877-4bf7-9eca-85716cba254d CLINVAR:555998 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e006121-c837-4d6d-ba46-2cecb53c6883 CLINVAR:555998 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56278163-2bd5-44a7-974d-416421566007 CLINVAR:370278 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48ccbedd-435f-40cc-9767-88b3c385e601 CLINVAR:370278 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73729f31-5b24-4433-b593-0230e517e59e CLINVAR:692768 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07f6416b-ee92-4064-8421-b60e7a18e982 CLINVAR:42227 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47fc568f-d845-4838-90e9-eefeb399d3f4 CLINVAR:9719 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 49f43ae9-061f-40d6-8025-52c82b70be30 CLINVAR:9697 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a47f05a8-fca4-42ac-becb-c46cecae0372 CLINVAR:550716 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ac07be3f-efff-4fb5-a5ff-bcb88adaeb30 CLINVAR:550716 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6290177-aa0e-4b28-9d74-05c3c11e82bc CLINVAR:188480 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d350c5d-3eea-4341-b4f3-63ad1a123d64 CLINVAR:188480 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 922cebbf-8092-4dbd-8102-7c983b05b62a CLINVAR:971945 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5cb64c6c-a550-43c8-9efd-d4ae2e2b93fc CLINVAR:971945 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 498a0854-c26f-4634-947d-9e67a98e06f1 CLINVAR:280956 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c01d788-bb20-46a3-a485-172092fc1966 CLINVAR:280956 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aa4b88f-3664-407c-95de-804090cd3f23 CA415088272 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 045eb521-4a44-4b8e-873f-3c34221e5df6 CA415088272 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b094ddbf-00a2-4ae7-8e69-627067ce0855 CA645287847 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eec1ef08-3034-4b22-8518-181a1a8b2f92 CA645287847 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ec89671-fe3a-4f9c-8113-9127e31f617b CA2582131482 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c3bd8fb6-0c3d-4048-87c2-7ed107c7171c CA2582131482 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2546eca0-d205-4df1-830e-ed9733860f04 CLINVAR:44729 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44774b94-b2c9-40df-a1ac-07d6779301fe CLINVAR:44729 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9324b39a-cc0d-481b-b700-569a41752f9d CA415077715 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8d15c87-525c-4d69-a52f-2e5704048a4f CA415077715 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b070ec61-e108-4c22-83db-aceadb163679 CLINVAR:2290132 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d89a8425-81ed-43fc-9cb4-d0576828107f CLINVAR:2290132 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1263ee5-7bca-4d1e-acf5-5777cc2bc8bc CLINVAR:551915 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb7af565-4efd-411f-a1be-9ebbd5949914 CLINVAR:551915 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2177c5b7-386a-46c8-81b3-0205ff1af7ec CLINVAR:2070085 biolink:causes MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51256b4e-cc0f-4a52-87d6-32d0e0e61334 CLINVAR:2070085 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 116ad86c-705b-44d0-af66-dfbf7e9e0ada CA10549369 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dcc7a975-ed57-400f-a017-ff5b3026539f CA10549369 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b51c1a08-d4bb-478f-b3af-e90d4482955a CLINVAR:11697 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9455279e-0330-414f-862a-60d18e196697 CLINVAR:11697 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22607c16-0faa-4f90-9481-3dd589fcdb7b CA415086358 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 308b0194-d792-4909-83c9-8569c4b362fd CA415086358 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f6adc50-00f9-40b7-a07f-739595b94801 CA415086460 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6f19b29-a6a7-4ef8-88ce-f01f4ec69547 CA415086460 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9f98fcf-d487-4346-ad42-64cce54638d8 CA415086677 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e107c3b-2bfc-4032-9984-85524f6af4b8 CA415086677 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26fe65a2-3445-40ca-92a5-722bd2073828 CA415087081 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89c638a4-f284-4ab4-811c-4118bafa1b19 CA415087081 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e0054ff-1eaa-4a32-9876-5c999aca7deb CA2582119824 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0f9652d4-bffb-4a31-bf2d-9779f934ea67 CA2582119824 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5557387f-cad2-41be-9f29-a034f107b65e CA519344969 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75af3427-c3bb-4abb-91c8-9b2540ec0e2e CA519344969 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfc412e3-67c1-482b-a7f8-6b9967d035d4 CA2466438179 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5760a28-7f69-455e-8c16-213712492d68 CA2466438179 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 662ffdd5-9e19-4b29-a353-f757b095ea28 CA415086699 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4fc415a0-ffbc-45b2-8ed2-195932293603 CA415086699 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b5736649-debe-4cf5-8cea-08538497dd26 CA2580617569 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cca34e3b-e2dd-412d-a1eb-122f53f4c3d1 CA2580617569 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16d8afc3-4792-4a7c-8369-feeb344a4842 CA415083128 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7feda153-fe2c-4793-a70e-1fb06f346946 CA415083128 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e5ee84d-5a40-4f1d-8a33-75c3b04446d9 CLINVAR:804101 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 48821ae2-6fc5-4149-9436-1075294a9264 CLINVAR:804101 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c936e46f-15d7-4367-9bd2-147da455c34b CLINVAR:1802549 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 485801a8-847a-4a77-afbd-64e51018208e CLINVAR:1802549 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7814711b-44ec-4774-8bc2-7287a618c32a CA415077156 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5f56823d-509c-401a-8db6-dc4032251168 CA415077156 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48473b76-72c1-4fca-a374-65af6c3ba13c CA2579985607 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 329e5eba-0210-4c6f-a490-5e49f76c2d37 CA2579985607 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61d70855-6df2-4141-a845-4401940a5ccd CA415075833 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7036c38-c5a3-4285-b254-100d556f61dd CA415075833 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b433558-b62a-4d36-99fd-afcbecb356e2 CLINVAR:1256306 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36041939-99c8-452c-8e66-faa9445f5ea4 CLINVAR:1256306 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65f48d66-5a3f-46fe-a6a6-507f53c0382c CLINVAR:585920 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7deb9d31-f2ac-4d9b-94c7-c36d0b3f0eca CLINVAR:585920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bafca033-6381-4fdd-95ba-640cd7167748 CLINVAR:585907 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d89808fb-5688-4daa-b1de-6366fa0d28fa CLINVAR:585907 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 611deba8-736e-4898-82a6-5f576e69c3b3 CLINVAR:447378 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7fbecdd8-b60b-427c-a72d-eae2508e5f6e CLINVAR:447378 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45947bfd-a6e3-4c65-a5f8-7756c75fdfc8 CLINVAR:36170 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44a2fac6-2b8a-405b-a30e-3611f1774982 CLINVAR:36170 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 431dc0c9-5f92-498b-b82b-80b9fb19377f CA367400138 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbabf05b-a44a-4bc8-a2e8-bed1d397bbf8 CA367400138 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6576d401-735c-4246-9360-ab2227391ed6 CLINVAR:393447 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b33722d9-a570-4af4-a3b3-973986e72f99 CLINVAR:393447 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 675e3de8-b732-46ff-8c22-e5ef5fc00249 CA367396861 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b148849c-aa70-4d04-8e37-f9f1e783af9b CA367396861 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53d2a0fe-52ea-4b59-b063-8c9322c6d017 CA2740067583 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0de44ae-da29-4efc-b4de-293ed6b639a6 CA2740067583 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2584a8b-c75d-4576-ae17-2195f8b7596d CLINVAR:1683587 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b9acd90-ec5c-4767-ae52-dbe2edff74e0 CLINVAR:1683587 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b038af-c2b1-4df1-bfdc-a7aa6a109f7d CLINVAR:800346 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86181498-8970-40bd-8ffe-a871af9bf8c9 CLINVAR:800346 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27e1eb44-0e25-4a0d-9211-5fbe070665a8 CLINVAR:496628 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a83b8c06-133f-4e61-af57-49987055a1d6 CLINVAR:496628 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ece61eb-aa6b-4a52-a692-7ca4d365b89f CLINVAR:36718 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc6946b7-bfc9-4d82-8352-fdc826089149 CLINVAR:36718 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32db103f-2a1d-46a3-bd53-414ac6bd537b CLINVAR:36717 biolink:associated_with_increased_likelihood_of MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc8cc6eb-8b11-4707-9785-8c88748ddc8a CLINVAR:36717 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 512a6c43-7c39-4597-8050-e761054c3394 CLINVAR:304553 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a5efc51-c300-47b2-a0c8-dec6b1e02304 CLINVAR:304553 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41e0939a-c5d8-4728-8ee3-b2783b7965e6 CLINVAR:496624 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b7f7fc7c-b4d1-490f-82e3-a35a3c5758ef CLINVAR:496624 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c464b73-5c8d-4bca-83a0-703c3af49c20 CLINVAR:971474 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f17e40d2-ba5f-4773-9e79-30d4455fc8fb CLINVAR:971474 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9450ace6-8e10-4e9e-9eb3-5a65b210bf73 CLINVAR:1015912 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 978bc7f7-1cde-4ea0-a72f-504ad78207e4 CLINVAR:1015912 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f139bb02-9816-48c7-a449-512b53ed2d54 CLINVAR:1035293 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05540cd9-d4f1-47b5-95ec-6df083c49e0d CLINVAR:1035293 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07a3cea5-22e4-49f8-a00e-26689329df73 CLINVAR:661326 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 137d4d21-9acb-4041-8aa6-ab65f936844c CLINVAR:661326 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6c7b17e-3884-419f-b3db-675f6f802c5c CLINVAR:2062424 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d031ab96-1320-4a1c-8f45-357d72106779 CLINVAR:2062424 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 173a02ce-c939-4c16-a9e5-bff0d9275c8a CLINVAR:958156 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 316ba2a0-d5b2-4660-9383-5c598e0e3be0 CLINVAR:958156 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78f75f76-5ba3-448c-a2a2-10c47ae283f6 CLINVAR:1936229 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a05f27f1-a0d1-45cd-b1ce-5dc8367215f2 CLINVAR:1936229 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f67980-eb46-4e8d-b020-f65f6bac2d69 CLINVAR:1199335 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06dd442c-0541-4d43-ad85-d0dfba6f7c72 CLINVAR:1199335 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0d21b9f-6759-41dd-9576-8a0c21a1894a CLINVAR:860679 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59642fcf-c08c-4661-a1ee-a7b25d4f4c4e CLINVAR:860679 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2727d314-f49a-45e3-b6ab-0d9d9861cbdc CLINVAR:9723 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64c1fdb7-0c9e-4ed6-b067-28cccffd3cf7 CLINVAR:2138345 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2ed22b5-9f72-42b2-81f5-0f70b751a6f0 CLINVAR:2138345 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bba26c02-18b2-4e9f-a77c-f6e9d494c8f9 CLINVAR:134574 biolink:genetically_associated_with MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71fb0488-456f-421f-84e3-441d6e45e2a9 CLINVAR:134574 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d2fde7c-b727-4230-ab7b-1efc267bc567 CLINVAR:1406981 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0586438f-f876-41dd-9376-478ef0b299fb CLINVAR:1406981 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a4c4f82-ee2c-4f12-bc36-5aefddc5fe22 CLINVAR:1068640 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4ceed344-7b4e-4302-98cc-b248b944b1f6 CLINVAR:1068640 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a206279-647d-4a61-a689-3d78a764a63c CLINVAR:714463 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0aabba77-ed62-4e8d-863c-744f211ddd03 CLINVAR:714463 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 977ba6d6-e43b-4830-a451-f7273001d2fa CLINVAR:994900 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb24c4e4-37ea-44da-bbe5-e51a093c6218 CLINVAR:994900 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03f3af49-5ee5-4719-9f13-6918a24dc915 CLINVAR:524154 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen acc92b3c-975b-4398-b169-77ca820957bb CLINVAR:524154 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d68d9d24-215d-4855-afd2-e0ee51d2f614 CA9870171 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 27590132-8321-412c-8b51-b5b1a7e25353 CA9870171 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acc70f72-aecf-4b3e-803a-aa5808ca6ed4 CLINVAR:156152 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 64514cdb-9f03-4eaa-8603-0f4e7838a1d0 CLINVAR:156152 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d56d9c44-da73-4c76-8dae-fce7909fefe7 CLINVAR:372382 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dc3650d1-9d3e-4e4d-88ae-684217d24996 CLINVAR:372382 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ea3c116-092f-4148-85cc-ee1ee3b94c29 CA409103960 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1042bab0-d5b9-499d-90c4-1b429846663f CA409103960 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 306a45e9-141c-4d84-8f37-c03188315069 CLINVAR:546494 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c302ebe0-3d32-4047-909b-e3c1bd28260f CLINVAR:546494 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce5225a0-881e-4ea4-b5f8-4d8f8859fa4b CA409103971 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12d61da5-d37c-451d-b8b0-586b67610279 CA409103971 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c71dbeb9-0a80-456f-a06c-d368f6eff6e0 CLINVAR:435436 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 77e780a1-6714-4491-a19e-1e533c708b73 CLINVAR:435436 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 913ac7a9-db4c-41cf-ad0a-642138c42e79 CLINVAR:520895 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7275221-61f4-475a-bfeb-b999c3a1d1f3 CLINVAR:520895 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eafcae82-8061-45d0-866c-171404b6ced4 CLINVAR:430844 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7679fbe-6855-461d-ad6f-4ec4207e1e25 CLINVAR:430844 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bfbe200-3205-484b-8c36-01466ddcbe76 CA409104280 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ae0c5b9a-696e-4450-89ee-42f8a5f5b0ad CA409104280 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a5a6e34-20c1-4369-857a-b3c6b066aa8e CA409104356 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28625b35-8e3e-475f-ac69-de9191446da5 CA409104356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bc61b72-1ebf-435c-a1aa-06cd1d07ecba CA409104394 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94b98d4a-8e3d-442a-b348-e9d3364a636f CA409104394 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1127e8fe-9d46-4743-b52e-30ba64bf60f4 CA409105356 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf097cdf-8c61-4980-8365-5cfcd9ed7b36 CA409105356 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82138d8b-ab63-4eaa-8e9c-6c1c977e1a29 CA409105413 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 54a05bd7-9fc4-4211-8d29-e9af4de5458d CA409105413 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 135e1c02-0b78-44e1-910e-c73857f895ff CLINVAR:995121 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f5e06f9-2c48-4b65-85b3-901385fb3870 CLINVAR:995121 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10274e6c-bbc4-4077-80d6-a48c8db37111 CLINVAR:1457657 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b939c186-d9a0-42e4-a534-3b3c334e609f CLINVAR:1457657 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5a9de03-af97-4ea0-a190-6e810c805d79 CA2573106197 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 47663625-f892-4479-9228-07d9ca319c9a CA2573106197 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b26d3905-d762-4db8-b181-989af0d8ea44 CLINVAR:450787 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7bb27b24-7395-4ba7-81be-09f1363aa2da CLINVAR:450787 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97824228-f73e-453a-a010-3e518e71d928 CLINVAR:36364 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b829a6c-d838-4992-ab52-c5ca542ff32f CLINVAR:36364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac81180c-3ad6-40d4-833a-32379e5583eb CLINVAR:435439 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5d83116-2fe5-484f-a815-c016bf7f31da CLINVAR:435439 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 954103ba-9ecf-4917-b735-0560ad90b7e6 CLINVAR:587398 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3ad20bdb-07d6-4451-aece-62b970f90d61 CLINVAR:587398 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5808befc-d352-4aa1-b66b-aab9d4eb0707 CA9870374 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e827affc-5d4b-4eb6-8292-dfcadb944b2f CA9870374 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72063ea5-e424-45f8-bb00-a7ab442c62e6 CLINVAR:447524 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e95db6e-a58d-4dce-846f-3ee8a8ffdcf0 CLINVAR:447524 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b29d83f-634d-4a83-b64f-0005beaa0754 CLINVAR:804918 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57c64612-24d5-4e41-b947-3e00377bdbc1 CLINVAR:804918 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8bf91577-1e55-449f-a27e-0e49984fbb97 CA409108073 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 002de809-3a08-4823-93d5-ff2523387fb8 CA409108073 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6e7682d-6164-4c97-a7cd-5cbea74878c6 CA409108074 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3dce1a2-4375-4fdc-8203-4be12f35d7e3 CA409108074 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78fb6d94-8405-438e-9eb7-01ec3c604b27 CLINVAR:447513 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36ba6a28-6864-46b0-bd9a-225c7e0b6a5e CLINVAR:447513 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d161249-2d5c-4863-b5c2-3d28c3f23bab CA409110425 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2033684-2914-42e0-8a43-a5989b5063cb CA409110425 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b467a65-7cb8-46b3-917b-1cb604f8ce74 CA397725976 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b11dd7b-f6c4-48fb-a143-eab1248d7e75 CA397725976 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38266f59-25e7-44c8-a858-e041e4496500 CA415078666 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 223deefe-2a99-4803-8121-f491f6b0bc08 CA415078666 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a1b9b1-edc1-48b6-9aa3-25837ef8040f CA415078874 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0248d6b3-4f6f-49e5-ba8c-ff4f2e74fe07 CA415078874 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b17eddb4-4428-40b9-b33f-c2b2a7832aa7 CLINVAR:428204 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a22d543-55cd-4d87-819a-0062b9092f85 CLINVAR:428204 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8370fb29-0ec5-41fc-8a65-9ee0c26f89a3 CLINVAR:854960 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 823cd1b0-e3a0-44ad-8b4c-8099ade9ae42 CLINVAR:854960 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee4d9cb4-f4ae-4611-9599-b6049fb23158 CLINVAR:1406308 biolink:associated_with_increased_likelihood_of MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b0771dc0-85e7-4971-a6cf-96fc085e594c CLINVAR:1406308 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f99018-1336-4ca9-9290-2677e343d2f9 CLINVAR:428222 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de63aa87-2171-4ec2-a42c-b1a0b5f2eb58 CLINVAR:428222 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66a894a0-b94c-47bc-9c04-1c9de9f5bd69 CLINVAR:198683 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1a1c56f1-a6a8-4eda-8861-d04a78c2995c CLINVAR:198683 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 196b623e-0782-4f34-aff5-ccfec8839f7c CLINVAR:166643 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2c6588a-2325-40bc-a66b-16cd89d78051 CLINVAR:166643 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14c33ad3-b32f-4f8c-b835-18fa050d3289 CLINVAR:952947 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e702f99-7d83-4057-8871-195408fbc108 CLINVAR:952947 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa3305d6-da55-456c-944f-76affeacd3ed CLINVAR:1684354 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 653ed8aa-27c9-4e3e-99cb-de3c555c97f3 CLINVAR:1684354 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e616a71-8308-4265-ab3c-c7e57047d4a9 CLINVAR:1695377 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5dbc887b-fd9a-4e8b-9423-92b96f3e4dc2 CLINVAR:1695377 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc5806b0-a676-4142-96c6-1a69f8c9d971 CLINVAR:627020 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48304302-23b8-448d-acdb-724baa122dfe CLINVAR:627020 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8306aa1-f177-4860-af9f-c0d07570d3d3 CLINVAR:890528 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 364081cc-315c-4a2f-897c-e80d5548fc6f CLINVAR:890528 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87c85a4a-705e-4f73-9d02-25c4af209c14 CLINVAR:1684321 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fea45da2-8473-4e6e-b973-815e81f0ff02 CLINVAR:1684321 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 213ac7fe-0b98-4b9d-93c6-125fcc1e6315 CLINVAR:1684322 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 280b99c8-8e79-46ed-b2da-79985f8bd8a4 CLINVAR:1684322 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a779eb5b-8f04-43ac-af8c-51154ee523a5 CLINVAR:932221 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 62233ed2-9eb6-43cb-922c-3f9f2de0017a CLINVAR:932221 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a2fadfe-0c03-4ca1-9ebb-862c8880db7e CLINVAR:995370 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d6c180a-08b9-4d48-92ca-9ded6183904d CLINVAR:995370 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 914f6312-d6cc-46dc-a9b2-0c510b5aa81d CA367401928 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fb3c9bd6-ab41-4759-8c96-3df1899f78ba CA367401928 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1220428-2950-478c-8a99-40e527071997 CLINVAR:1741488 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8665fda0-c535-4613-ac45-5e3e308fb8e6 CLINVAR:1741488 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ec9a8e6-72b4-4fbd-901c-8487480c76df CLINVAR:36221 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9fa2e249-be1a-4672-bd6d-a45d2be71452 CLINVAR:36221 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 322a32e5-4cbe-4643-90b8-b0927fb81392 CLINVAR:36223 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccf6b465-3ce5-4999-9899-91517bebba7c CLINVAR:36223 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59ce55a7-bc93-45aa-8a35-7ab5416d2a66 CLINVAR:447401 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3a1865a-5724-4e3a-b6dd-b9a7458e3ccd CLINVAR:447401 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0e89586-4f5b-42b4-930b-e04afb11ac3b CLINVAR:283358 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 17f0ebc6-a688-45f1-82f0-2a189349679f CLINVAR:283358 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b63d047-6928-4d27-bc3f-745f44d611ab CA367401376 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cd85ba11-9eac-48c9-9772-f46a5757f816 CA367401376 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cae332e-b4d6-4f76-98a3-69f5cfca753a CLINVAR:2431839 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b72e98a4-4d1d-4e0c-a787-449dae26391e CLINVAR:2431839 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e34eb62-c1fb-428e-90f7-15a3008499ee CLINVAR:1371376 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a13c3d83-99e0-403d-b959-9191c63271f6 CLINVAR:1371376 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f85cc9e4-212f-440d-90a3-3c6cdde0686c CLINVAR:973969 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 25498760-dd8e-4ce7-8ad8-db79dacdc4d7 CLINVAR:1452579 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d36b507-8c7a-499e-939a-a2e52e17a7ac CLINVAR:1452579 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 940e302e-7bd1-4242-af42-ac1179a55511 CLINVAR:98821 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8fdec6e-1e1b-41da-b6aa-4dae87c0c3b9 CLINVAR:98821 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdee16a0-d62d-4917-b4c8-046d78d3e115 CLINVAR:1212838 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e7d1ed0-09ab-4901-9626-78a01de5d3c0 CLINVAR:1212838 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbd7ffd0-0b26-4da0-9cbb-ae2e07f83ae4 CLINVAR:427868 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 637a652a-4b07-4a86-9671-613415674b6f CLINVAR:427868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 99ec9b36-0abc-41e3-a792-acbde6bdbedf CLINVAR:98830 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e35029fc-e0a9-41e0-a460-dcdeeebd0bf4 CLINVAR:98830 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61a404cd-2ffc-4de2-8d2a-a56a34c2d126 CA340742683 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9d0d7562-2d58-4411-b39f-0e8084c27741 CA340742683 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2eccc13-2d48-4cae-af12-c2b32d56e4af CLINVAR:2131688 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a2cccf6e-e79f-4504-a9fc-ed9aa4cfe1b5 CLINVAR:2131688 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 102ca42b-1279-4309-b17b-58e3474725dc CLINVAR:850613 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 93a25b33-780c-4266-ad89-964ce3458cd3 CLINVAR:850613 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4eaf9d5-39a8-4748-8626-767ee050ae9b CLINVAR:1452575 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fad8937c-a6f1-4491-adcd-ed79a68fe5bb CLINVAR:1452575 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bbc8c1a4-7ca7-4844-8c8b-c16b74afc273 CA340741708 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b8320280-b74a-4394-8671-321714dc3dc4 CA340741708 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bf69dd1-ef46-441c-a7ee-b3ab093e98f8 CLINVAR:1321180 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62f1b32e-7371-4a3c-9add-30ff3b69f1ed CLINVAR:1321180 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01f32350-8279-4053-b221-16f6bf3a615e CLINVAR:813222 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b785e696-dee9-4001-86eb-91f60006a3b3 CLINVAR:813222 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4c13dfa-cfa6-468d-8377-185286acbfe8 CLINVAR:1384701 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf70f00b-2a3c-452e-97c8-e3c81955f12a CLINVAR:1384701 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c11df8f-c2b4-4da3-a2fd-33d95e3540c3 CLINVAR:1445004 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b090b1a1-b627-4184-893e-396456b18ef0 CLINVAR:1445004 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0cc134c-75cb-4bbd-98a5-4f4d5e0c6280 CA340750344 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 46c546ff-4dbb-410a-8d7a-cf734ac09eed CA340750344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e0bbe8e-ca79-4354-93f8-fe5df7a78a85 CLINVAR:559523 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 95436a5e-4aca-42d7-9a42-3c3167a42685 CLINVAR:559523 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf322262-b406-435f-bf2e-7cd960d601f9 CLINVAR:98873 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7b303635-0637-4b8d-a60e-a5a46873f74c CLINVAR:98873 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 322c2125-15e5-48cd-a24b-6eb32115a7a5 CLINVAR:98875 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0eda5d6f-0816-489c-b23d-633d17965185 CLINVAR:98875 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 48650a58-346a-40c7-a31e-a2c965f6634a CLINVAR:1074826 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b78be0af-6a45-4243-b962-a3541c9ff323 CLINVAR:1074826 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06bf3de3-e5a8-43ce-bc6a-91dbb69f02be CA340750220 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd8d0a81-3050-4e6d-9708-fa98ec4926c2 CA340750220 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1293fc2-bf8a-4397-84ed-16ea6be00273 CA2586966741 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6a5206b8-e6da-44bd-ae70-8f44a5ba4d72 CA2586966741 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccdbb977-c92c-4915-869f-25f7281b3143 CLINVAR:437985 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e03917c-d31f-4620-996d-0c4c0537546e CLINVAR:437985 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62c4c0cb-25b3-46af-9581-704f0602d142 CLINVAR:556104 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 94f89e77-5655-4508-ae31-536d87a7b93c CLINVAR:556104 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 271c436d-a54d-4656-a10d-47993cf65cae CLINVAR:98891 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen be6934a3-e828-42eb-a31a-50145ea4687f CLINVAR:98891 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe1701fd-8dc9-4f22-8180-e9b67911d557 CA2695202184 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dcf13c53-5ad7-49c5-8233-ead57caf33e9 CA2695202184 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf5a4a1c-8cf1-4bd6-a0ca-5d303c3d2177 CLINVAR:98895 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7354ec1c-7760-4802-87da-a528eb368557 CLINVAR:98895 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad54f387-da01-4a71-ac8c-7058f07520f7 CLINVAR:1679125 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d7e6bdb-2031-44ed-bc06-9e64ce67bca8 CLINVAR:1679125 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71619f9a-5685-4253-b534-92ff2947be29 CLINVAR:98902 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c402f517-09e3-4737-9695-0ec20e24c532 CLINVAR:98902 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07db370d-984e-4e0f-8499-52f395c9173b CA340744560 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f3c2b47-c54e-463f-b056-e03b7f5b0fd7 CA340744560 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dffa50f-7b0b-44c1-8c3f-2a82db75f92c CLINVAR:971195 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bb9697f-3991-4e21-9e73-dfdf28ced81a CLINVAR:971195 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 932a25e6-d8b0-4fc2-a79e-095ab56c6e26 CLINVAR:2098676 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2448a3df-fb73-4028-bb7d-14ccf626ffb1 CLINVAR:2098676 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d83d781c-a366-4858-8868-e280992996d3 CLINVAR:1515226 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bca22f63-9b7c-49cb-a6b2-12669bafeffe CLINVAR:1515226 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61720703-67f7-4abf-8a41-97c349705468 CLINVAR:1348464 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02553157-46c3-4c71-a523-e8f13cb31228 CLINVAR:1348464 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d69da413-2d1d-436d-9fff-0b9f32e6acc4 CLINVAR:2269371 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa33b50c-9de6-4309-b999-3c7f9cabe530 CLINVAR:2269371 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acf4bd2f-2fe7-43cf-a2ad-afd053ba9f23 CLINVAR:843919 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1cf4ccb6-67f7-49e7-a74f-2ff81607255d CLINVAR:843919 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 988ea23a-79a9-46d0-94d3-1e37c312d48c CLINVAR:2079766 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31391043-ad7d-4100-bc13-e4d747e0c5fb CLINVAR:2079766 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4a8f1d3-cc64-48b1-b56d-838372ea5fcd CLINVAR:2199784 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b02b8881-e89c-4a2c-9074-66aa2e0a0b7b CLINVAR:2199784 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e73a166-ad66-4ee7-af1c-b1ca044e57be CLINVAR:1038658 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 079b13ef-fc8f-49c0-b997-d3aa708e92e7 CLINVAR:1038658 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5012f3e4-fe1b-48cf-93d8-8e441503f6e3 CLINVAR:1195941 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4cb3d8d3-9e52-474b-ab19-f7f1c10c30a9 CLINVAR:1195941 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 837cff25-60fa-4270-9905-aa8ecc54eedd CLINVAR:1507601 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 582b5c56-f806-4c86-adb8-531db087b117 CLINVAR:1507601 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482e7587-3145-4e30-ae9b-321df2457879 CLINVAR:1357028 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 582c1ffc-edee-465c-b3f9-d9a3dd2f7e35 CLINVAR:1357028 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21ecf1b0-ec01-4995-a3ff-78b5d835c0a5 CLINVAR:950101 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2711d2fa-dee2-4ef4-8f8a-5b28465e3b2c CLINVAR:950101 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed0c2e4b-8220-4a06-8ad9-561e84fe1b99 CLINVAR:1626393 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 658fafe0-5214-492c-9927-17dbebf37320 CLINVAR:1626393 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83c4a825-1cb3-4de3-887a-2671fb2d4a83 CLINVAR:2009484 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fada82b2-441b-4131-8481-3e33ee967fe5 CLINVAR:2009484 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f7ba1c5-3762-4b00-99f4-c4e30acff18d CLINVAR:845973 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5adc66ae-32e2-478a-9290-b773b191f01d CLINVAR:845973 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aaec7464-4527-4a5a-96a8-f14c55e6ddf3 CLINVAR:897016 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63f36731-e1ac-4f5b-9e91-61ed37db8b8f CLINVAR:897016 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 103d15a6-a0ff-4b5a-9d5e-367fcbb2f1ab CLINVAR:194316 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 86ea4c33-2233-40c1-81f1-5728d8040f9e CLINVAR:194316 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92222dc2-61e3-4a5a-8fe3-4b24114de26a CLINVAR:541723 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e6a20b3-8daf-4de6-8dcd-b1769c37fc51 CLINVAR:541723 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 389c99dd-027a-4e8c-80f2-9b9ffe44e830 CLINVAR:36199 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4d93eed9-b05e-43a2-90a7-f94ce12f2bd0 CLINVAR:36199 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 519b67e8-3757-428e-8524-b6235e28f85c CA367396925 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 439c178c-6e40-4be8-8c73-55c0045611b9 CA367396925 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1333baef-4531-49b3-b40b-a497732adb25 CLINVAR:36195 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8bf4ea09-40d4-4bd0-b35f-f582007ff2de CLINVAR:36195 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13765ba7-75b9-43f4-92bf-d686bb1496c0 CLINVAR:36194 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4751a17-6f8e-4be2-9833-d5a7aee3c60f CLINVAR:36194 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae51fb52-4e46-44d5-be70-d111a5adb0e3 CLINVAR:585912 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91579b61-aa0d-4bd7-89a1-1faf1facda9f CLINVAR:585912 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9e67472-1da7-4856-8834-974d89c65ced CLINVAR:36189 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6e10cf4b-f046-437f-8df7-0c12458acd9f CLINVAR:36189 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37a490a9-eb8e-45f7-9150-2d7b129b9adb CLINVAR:447389 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fc86e00-fd9c-44dd-90dd-20bb32638b79 CLINVAR:447389 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3783d0b2-cd10-42c7-b7d5-88d731105e59 CA367398282 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9782d5c-1d3e-4a22-b40c-1b19845b9659 CA367398282 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b64ed24e-e965-4f47-a430-4474c087a3ea CLINVAR:2734988 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66b8b693-57ad-435f-bea5-f53fd4dade8a CLINVAR:2734988 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51755a2b-fa95-44d0-a1c2-2c563bbc9f88 CLINVAR:447387 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ddf12bf1-bda4-4d37-8460-120ecf3f75f9 CLINVAR:447387 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23d818e5-5aab-493e-96c2-067ceaa9dd43 CA367398289 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ecf4d93-df27-4fbf-b3f6-5ffd78b917f3 CA367398289 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca8bd96d-2d80-4989-8a30-8d81b050bcab CLINVAR:447386 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0276fef9-5703-4e08-b9cc-7153df97b6ef CLINVAR:447386 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67d63f90-9041-4357-baf4-f1ed2a2476bd CLINVAR:3233995 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12e1e0d2-644b-48ae-84b7-998450da9623 CLINVAR:3233995 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa514d84-20e2-4125-9aa0-fe7037cdc962 CLINVAR:1472875 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 79e7f6e3-31d7-44aa-8433-72f4b92eb090 CLINVAR:1472875 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd0253f8-cbf4-42d4-b419-91cfe6c08a85 CA367398311 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 73f952fb-c88a-4a01-961c-ec13d888d571 CA367398311 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4529fe87-2753-48cc-8426-7fa11a2b1050 CLINVAR:1303094 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 71b37de1-2dc7-4ea4-8a41-ff8e9a014d0b CLINVAR:1303094 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05d6cf78-4fc2-49d1-be28-d9ce5ea1fc86 CLINVAR:36183 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d4149ea-cb5a-498b-b2e7-68547acfdcef CLINVAR:36183 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7eb8035-a701-42df-957d-dbb9dfc8b65f CLINVAR:36184 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4cc928e-a2fd-4b17-a234-94e2ecfa4e7c CLINVAR:36184 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4bf9224-6e78-4b5d-900d-30b86b52a6d4 CA2580610955 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 404f40ac-bebe-40d1-a9bd-fc86412496e4 CA2580610955 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4148ddf9-581b-4b61-86e7-8630bc389c16 CA367398660 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8d98fc6c-aaa0-47ec-8e73-bc41683bebd9 CA367398660 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c66e718-140a-4359-9ccb-333f56569aed CA367398657 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7e35932-dcdd-4125-ae3d-5ac3e48d17d9 CA367398657 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 750f2ae0-eb0c-4a92-8d13-1196d9abd4bf CLINVAR:280892 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 17d96811-8dea-468a-aca1-db6546d1e7a8 CLINVAR:280892 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 715a022b-1846-44dc-9d2d-2a9d8611fc2f CLINVAR:36180 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 60c875ed-f538-40c8-bdff-b95fa83d34fc CLINVAR:36180 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 62c98b09-97ee-45cb-9214-f2e93c190b81 CA367398699 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 575bbd1b-735d-4968-8eb7-00fdd5321987 CA367398699 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c002e074-9db5-4017-81b8-3513d7a357e9 CLINVAR:804837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d9d119e-4c57-4dc5-bf41-4c51ebc19a5d CLINVAR:804837 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ff64a7b-974a-4f49-89b7-1fbf95dacb33 CA2580612101 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7224338c-a2e8-4778-bd92-c34dad183674 CA2580612101 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83a90f0f-5a3d-4078-8638-7e130c6980c0 CLINVAR:219179 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 705a9c15-a219-4b96-99bc-5c12d2272f0d CLINVAR:219179 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dba6843-8899-457f-9433-6f2edf1aefc3 CA367401894 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18f3935a-e2e6-488c-a0c1-e257258d2ee7 CA367401894 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 084836b3-2496-4727-ac84-a72652984504 CLINVAR:2567920 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3215fb84-fadb-471d-b5f9-df237cdafbdd CLINVAR:2567920 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ead566e-4ff4-4f7b-b721-c1f1aba6e093 CLINVAR:1512780 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91b1cd08-fe1a-4405-a3c7-44714030392d CLINVAR:1512780 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cef1c2e8-ec16-4cca-ad6d-de4044a20313 CLINVAR:990457 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9736a105-9848-4be0-ba70-12bba63be502 CLINVAR:990457 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8aa7b44b-ea33-45c3-a812-582f0a206064 CLINVAR:1309924 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 331b09be-21bd-44ef-baac-50c17b2d6473 CLINVAR:1309924 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e46d3717-57e1-4c63-993d-77856069fcce CLINVAR:898483 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e3b82fb-2b61-4ea7-b7ab-70d8ed0c234f CLINVAR:898483 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7efcd913-8477-4bb0-a198-88e36d9312aa CLINVAR:8800 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 060bbc11-f925-4cfd-b5be-aef963d138f1 CLINVAR:8800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00f667b5-8ee6-4db5-856e-9f0c7edde0ed CLINVAR:812796 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4b3eff86-f192-462e-b58a-f9111382ec1d CLINVAR:812796 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb5a8507-2c14-46cf-9b88-f53ee3d0d369 CA409106055 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 723ec1cc-21e7-45a9-8933-ab922b2ed2bb CA409106055 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b45b46c8-5602-4d9c-8ef6-cb92917b4619 CLINVAR:304560 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5c8b56a-0537-4f3e-9476-d93dc5b9d035 CLINVAR:304560 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b48214c5-b7b7-4c49-84c6-f64f7c4fd252 CLINVAR:2301303 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 894327f8-2373-497e-8001-547abfa7f4b2 CLINVAR:2301303 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea60ea97-2f95-45f3-8b23-0aa1bea7ada2 CLINVAR:857533 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a37f3232-c2d0-4eb5-95dd-a4eba91e4c3c CLINVAR:857533 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ba5d910-9e5e-4e42-87e4-204030dad2d4 CLINVAR:658239 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ace6a41a-7bd4-4657-acc1-48b7e2ec7369 CLINVAR:658239 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cecdfd5-db5d-4e9d-a2b4-c9d2371fea1c CLINVAR:879522 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69399337-ccaf-499f-b395-537a23146ae7 CLINVAR:879522 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c098b85-00d8-4d9f-b430-711b3b1c6f99 CLINVAR:990456 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc608799-7ffa-4f4a-9aa6-f84cb8271120 CLINVAR:990456 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71c0518d-6da7-47aa-9c81-900036463f10 CLINVAR:662119 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c7d928e-5e5d-4a27-a9f8-e06f1af3585d CLINVAR:662119 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d54b6c27-c65e-460d-b585-8a0acdc8276c CLINVAR:382795 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85b62ded-a1d8-4db3-ba12-eec8fd284571 CLINVAR:382795 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf970ed0-83f6-4fc3-90f5-6dab4f006146 CLINVAR:1015428 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e95eaae-0c1f-454f-aec0-45429a02f483 CLINVAR:1015428 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 999181ce-46a6-4766-bd37-3c806f5c7495 CLINVAR:960745 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fbd07be-70ab-4e18-ac81-d04587e9d676 CLINVAR:960745 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a48e020-e617-4795-8cb8-48b72a756375 CLINVAR:2147602 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a052bea-e32b-47e5-9060-aa06e1b3d50a CLINVAR:2147602 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de8b4236-7816-48b3-9819-909b97e24222 CLINVAR:1696220 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c89c1e50-ebaa-4a44-b8fa-9938d5c72298 CLINVAR:1696220 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 694b8c63-28f6-43f0-b1bd-72ba214f5ebb CA409106957 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c9f3780-7425-4b37-9215-be70ad7c5626 CA409106957 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e50cdc0b-906a-494f-84bb-df6daeee6dfe CLINVAR:212810 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0b98657-fa56-4bd9-a1f5-cde766029199 CLINVAR:212810 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eba9145a-5275-44dd-90c6-9ed34620acf8 CLINVAR:8799 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 918e7077-0201-4702-afd1-71bd3e1a63d1 CLINVAR:8799 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e0e50b3-cdc9-44c1-a89a-77301e12c743 CLINVAR:333645 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 682b4726-5fbb-4ea4-9f8c-dab9109ca1b5 CLINVAR:333645 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 445e97d3-a772-4d4b-ae12-90160202325a CLINVAR:898486 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3320fd90-905a-428c-82ce-3207cc9ef2bc CLINVAR:898486 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce74ec2e-6326-46ca-a41f-283ba6448825 CLINVAR:409829 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 012eda5c-4693-4d8e-a366-e3887ac3056b CLINVAR:409829 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 295afc58-ea37-44c9-beb7-e3ade9c1e4c9 CLINVAR:425943 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4b9f743-cedc-468e-8ce6-1951649de589 CLINVAR:425943 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c49b06c-a03f-4844-846d-0ddcaf924b58 CLINVAR:8797 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 042da37d-0e76-495f-8681-a35960058e7e CLINVAR:8797 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 739d2281-8713-4fa3-bbfc-f0ffd5623104 CLINVAR:425725 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8dcc6f04-9cb6-4c66-961d-848db7c0f5ec CLINVAR:425725 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b04b515-6936-42ff-bcf0-1aa87805c619 CLINVAR:8806 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44c98dac-c0f8-49bf-8160-8ca44c6e3072 CLINVAR:8806 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb5b52e3-14df-4962-bffc-ddcb65132cf9 CLINVAR:228460 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 92a2671e-0bc2-4b6e-be08-3815cc5d04a9 CLINVAR:228460 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a5ed9bf-0de6-446d-90ef-ac3d9ef16271 CLINVAR:425852 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d2cead4-cb10-41c6-aa46-3eb81d90556f CLINVAR:425852 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d008ec1-169d-474f-a6f7-af7bc50dce72 CLINVAR:333647 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0485feb0-d7c7-47b7-8910-e16f3f4cc80c CLINVAR:333647 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e613acf-9612-43a0-83ec-57f3bb339d2c CLINVAR:623142 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d435da84-c52b-4daf-9d34-3460e3251e1c CLINVAR:623142 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d25739-50dc-4f37-b9a5-6a820054ca9a CLINVAR:623143 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1424b029-9724-4492-ba12-96a3157957c2 CLINVAR:623143 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 996df974-3cb8-4ed3-beb4-5609992cfcf8 CLINVAR:425800 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed988827-d889-4bfa-b9dd-ab2219d897da CLINVAR:425800 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d00adee0-18c5-4d56-b0ad-6c9331aa988a CLINVAR:627027 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00e04261-1a86-4d88-bfcf-8e418bc6b945 CLINVAR:627027 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db1840a2-28f0-4348-8168-b19d1f93db27 CLINVAR:627268 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2df1a436-e887-44a9-821d-45cfa90efe10 CLINVAR:627268 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038d9baa-31d3-4ab5-9b7f-8aa01291e8ab CLINVAR:626981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ede01c2-fc99-4974-9824-3a2216cabf26 CLINVAR:626981 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c52e2055-c50b-4667-9f60-c4748f28d3bc CLINVAR:627284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc6c4a68-6ee9-4277-88dd-6ab2bca6bdb6 CLINVAR:627284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55953f0b-c769-43d6-a5d8-fee0019d74ad CLINVAR:2092257 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0556fda8-01ae-4c27-982a-4ce98b7ca64f CLINVAR:2092257 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3836e1e-35dc-463f-b646-758dfdbeed49 CLINVAR:425731 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 748c3088-4316-41a5-a67f-d1bc7e0eb12a CLINVAR:425731 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f292fe62-92b6-4089-83fe-4bb26da56433 CA400034189 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 632857cc-218b-4973-b593-8747fa193607 CA400034189 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76793736-5a4d-4a84-99d2-8bae177371c0 CLINVAR:626948 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bd04ef5-7272-4e70-a0bf-71fbfebbd946 CLINVAR:626948 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c533f23-254b-4606-8dbd-bc10a13e71b3 CA399803746 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f36291b8-8e3f-4ab5-b0c0-5d6c8484ea21 CA399803746 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 714ececd-7086-4b14-adb5-b90bc58f4b96 CLINVAR:1349574 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c651f3c-1edf-498e-8618-0f93b77ab709 CLINVAR:1349574 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 734b1e7a-a0f2-477a-85dd-2e13a84d7b21 CLINVAR:36713 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e4e1bb4-1e55-4df3-9e7f-704d37453871 CLINVAR:36713 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3bfb148-3f3d-4730-bd62-ee2c2cef6783 CLINVAR:1365761 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27eb02ce-a387-474d-82d4-c7237e55be92 CLINVAR:1365761 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b465e579-5856-49a8-92d9-cbc93a39d354 CLINVAR:207024 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8186668-b749-47e9-b341-24d9f35ee3e0 CLINVAR:207024 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7dcf3fb-750e-4758-94ff-f3268ad96ab7 CLINVAR:189929 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b6c9c16-7ef9-4bdc-b951-75099059d837 CLINVAR:189929 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4a29efe6-2592-4257-8f8d-f94c7a1276dc CLINVAR:425938 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 51cc81cb-b86e-4dfc-8f07-470073b68775 CLINVAR:425938 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6615a5b-acbd-4c37-b2d3-bcd956ce6cce CLINVAR:1759366 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19030120-e1cf-4c7f-88ed-58a33e9850d6 CLINVAR:1759366 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b8917ec-6eaa-4a4a-b06a-190da31a47d5 CLINVAR:656642 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b547151d-3103-4197-993c-6dc098cb6160 CLINVAR:656642 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d163dc9f-a76d-44a5-94a9-7053b0c752bc CLINVAR:850948 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7342f05-969e-4196-8d71-ae05355b16e4 CLINVAR:850948 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9679ac9d-d805-4602-91be-abaac920fb55 CLINVAR:826421 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 434ba548-f2a0-41dc-bcb6-6125fa57e740 CLINVAR:826421 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c407649-1be7-4643-848d-48563e3130c6 CLINVAR:543562 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5354e876-49ba-4771-9ad9-787835a9691d CLINVAR:543562 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6ae5449-9210-45ea-8088-8f6d61899d53 CLINVAR:570615 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fc21d11-b253-4b00-b821-49751ce7a43c CLINVAR:570615 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba1777c0-e955-49b4-be9e-f969b778142f CLINVAR:412143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8d7a53f6-16ed-4d07-bea1-8f368560ae9d CLINVAR:412143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94f77da4-8962-47bd-97b7-d144afe29f3b CLINVAR:652143 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen da72c65e-56ef-401a-91f5-de9a2d0d09b2 CLINVAR:652143 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea632d5a-db29-4da6-8e58-f9bb87b5de2a CLINVAR:479649 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 90187ec1-5a5c-4e2a-8e13-be6ad9b8a662 CLINVAR:479649 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c61b43c-2ef3-4771-add0-8fa6bd5c6da2 CLINVAR:477204 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04e8cce5-1b88-492b-80e6-e7222cf3e1cc CLINVAR:477204 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a19f5b-cbb5-46df-af08-57e915180aa2 CLINVAR:1687238 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2434bd1-8091-44eb-aa12-9ead7279e09d CLINVAR:1687238 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 967915ce-6c53-459a-9777-f7792f050e39 CA390867526 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2460599-49d5-41c8-8f41-7fc4ed00e2a1 CA390867526 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3caac3e1-8713-4efe-8c38-d35a1e1c2735 CLINVAR:285157 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e1d0c36-4fd4-40d8-9008-e3c9d57817e4 CLINVAR:285157 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b07db582-ddc2-4fab-a21b-4e117a5b9611 CLINVAR:189124 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 512dd47a-de6f-4a1f-a943-ec32574f93d2 CLINVAR:189124 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46c1b5a8-f268-4f1b-9676-6a3a6e955810 CLINVAR:253297 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7095c04-4d82-4aca-b8ca-edd5303337d3 CLINVAR:253297 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7637437b-3983-4e3c-80ac-439ad485a366 CLINVAR:694309 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ddf26531-4baf-4444-8715-0167ae530065 CLINVAR:694309 biolink:is_sequence_variant_of HGNC:10596 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 583e0dd0-9625-4224-b9b7-2a69ed5d2c78 CA2586970245 biolink:associated_with_increased_likelihood_of MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c16531b-a215-4fc3-ae69-f49c36562b3d CA2586970245 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9fc30887-d4c7-489f-8a1a-5cbaaf771acf CLINVAR:189869 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b4704fa-a519-4b98-8ca8-05808bb2e29b CLINVAR:189869 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c9e4ca5-a659-4edb-aaea-89445576517b CLINVAR:373960 biolink:causes MONDO:0100062 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen deb0accd-eb0b-47ff-a13d-8cb554150808 CLINVAR:373960 biolink:is_sequence_variant_of HGNC:10590 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63fe51e4-9272-40c9-b8e8-293044a3f67b CLINVAR:68689 biolink:associated_with_increased_likelihood_of MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cc00ac3a-05ad-460b-a7b7-41a8df7bcc57 CLINVAR:68689 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaffb3ad-d4d4-48b0-8996-509ee724a30e CLINVAR:206852 biolink:causes MONDO:0100135 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7e9f1c36-305b-484b-b9ed-69d1a45f3b52 CLINVAR:206852 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 371fbee8-4d1b-4d13-baeb-ac7b12878bc4 CLINVAR:194555 biolink:causes MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d60cf6db-eae6-477a-ae7c-edaf3b77072c CLINVAR:194555 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73819aa-4ef4-436d-862e-021c358659ca CLINVAR:1478168 biolink:associated_with_increased_likelihood_of MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 80f8b684-0906-46cb-b9a8-8bc00189fcaf CLINVAR:1478168 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 543497ad-2dd0-442d-9247-d8923033d2fb CLINVAR:1342669 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3125aeaf-2c1a-4588-ab9d-03ccf9f158ff CLINVAR:1342669 biolink:is_sequence_variant_of HGNC:10588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffa8928a-c955-46ad-8ab2-cbd2d4b95f08 CA343777244 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8f078b56-ce8c-4dd8-a5df-cde3636b03e7 CA343777244 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4db9642-19bc-42cd-b906-b60adfd1f8a5 CLINVAR:654211 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76af3eb1-03b4-4673-b190-3f693f0a4de6 CLINVAR:654211 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b40c9f3d-6e2d-4039-8eab-77f2b9114e04 CLINVAR:18015 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c7426fc5-04cb-4d1b-8bb8-54dd205891aa CLINVAR:18015 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f80a774c-ad42-4417-acb5-d38831bcf41e CLINVAR:870596 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a81b9ab8-9b8e-4f4e-9ce4-2cd096ca26fe CA1251327 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 755489c2-1f91-49bb-91ea-180f74dfd78c CA1251327 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e953024e-e258-4754-8e92-2011ce8ce76d CLINVAR:811513 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3b7828a0-b7ae-418e-83a7-477318f13f13 CLINVAR:811513 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9116f47-df24-4487-9375-1a285d27bfc5 CLINVAR:699299 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4729713c-f4b8-425e-8916-4c54718e9d1a CLINVAR:699299 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2135e92-7398-4bd4-9b19-ce6e2bd45731 CA414447224 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c7e9bea-b95a-41fb-99c1-2f272f504dab CA414447224 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7ec03d1-2191-4f9f-a748-6bbcc0da4564 CLINVAR:9211 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 561b8754-910b-4b1b-a716-3894fd611414 CLINVAR:9211 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ce29ea4-8116-4bb7-9c28-54b7dba4c12e CLINVAR:972784 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7410313d-635f-4c6f-b6a3-ffdf30811126 CLINVAR:972784 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d48e273-1144-47e2-9652-9478b7244101 CLINVAR:586016 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54f79a95-f91d-47b1-bb1c-3b0fdcc0ce38 CLINVAR:586016 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b68925a-0502-4602-9cb3-737d422fe452 CLINVAR:549554 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 720a8961-518f-4581-9f5f-94ab253b63a0 CLINVAR:549554 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d101ddd-f673-45da-a6c9-c379862d940a CLINVAR:435437 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a34723e5-87cd-41cd-b0fd-b8e263254b2e CLINVAR:435437 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce57b61b-8793-49b4-80b3-ca50fab44b0c CLINVAR:493321 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6069773d-1f40-4d34-96f5-0ce0b3826eea CLINVAR:493321 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 24a684d0-6dcf-4f0b-b252-7046fc51c445 CLINVAR:520675 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 741e5e0f-5b4e-43c9-aaca-d4c1e60e4cc0 CLINVAR:520675 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f222b54a-4f14-4ac9-a8e2-7878af76ff09 CLINVAR:488999 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen da1b264a-9ce2-4a30-be5b-2e1bf63b9a3b CLINVAR:488999 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 380490ac-cda2-44a6-8e32-4f894f208033 CLINVAR:36354 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba7bc355-e1a7-46ea-ad0a-6d304f78f616 CLINVAR:36354 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73330176-368a-476f-b0a1-419ad31a2bd3 CA409106173 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 96915300-4692-49e8-9f44-3ad10332ea10 CA409106173 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c35370d-8c20-40e5-949d-d17ac4fddbe7 CLINVAR:2580600 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dd349618-b02d-4037-83dd-6dcb1842fe7e CLINVAR:2580600 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9539d11-715f-4b60-9991-13bdfe754a99 CA409106718 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3d587566-74ef-43af-bffb-1173ecff9fd2 CA409106718 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e343d9-bbc9-4bbf-96ba-60a3d413c082 CLINVAR:36355 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 995c270b-597e-4efe-bffd-80a877c5c76a CLINVAR:36355 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce6effc6-ef22-48ea-9494-f6414a053738 CA409106789 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f258415-8d2d-461d-b31f-f792825f81e1 CA409106789 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e803406-6348-48fc-9d84-eb0f1c64095c CA409106859 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46f2df41-27e2-4be0-9f43-5df157c3bf8b CA409106859 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 80823449-2cc4-4214-ad7f-9be8d6ced39c CLINVAR:397578 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2648d3bd-84d7-4924-9e77-963e2d894b94 CLINVAR:397578 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfc959ce-ab07-4be7-8b04-9574a137ce31 CA409106952 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8a1d6a3-7277-4267-ae4e-219c45a7b03b CA409106952 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64eda18f-ebdd-4555-aed2-fce6c68e0913 CA409106961 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc497581-74ba-4a81-8574-0a4907c8ba83 CA409106961 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c33bc55-e272-48cf-9d61-8cdcd64062c7 CLINVAR:586020 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 302f4da6-d095-474a-be7e-64b773c4af82 CLINVAR:586020 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1790f91b-cab9-450e-81d5-03b8f118eea4 CLINVAR:1186689 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a62f1440-3ebb-4d64-b17c-786d668f2399 CLINVAR:1186689 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2372c92-0a4f-46e0-9290-eef48e9c6df4 CLINVAR:447520 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f6cada06-e394-4e27-8eae-c0f4bec655a5 CLINVAR:447520 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 884f923f-0788-4d18-bd2a-5d0151280bdf CA409107446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 05dcb544-721c-4e8a-95bd-45ab9e92d3ad CA409107446 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 441010c2-7212-421f-b916-6b094a10299d CLINVAR:870344 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2dc4033c-ed95-4d46-a0cf-fa4b60542ad2 CLINVAR:870344 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b9be1eb-8c0b-4aae-81a1-c554615c90ab CLINVAR:36720 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ce6ff81-dbed-432e-bff0-db095f337b69 CLINVAR:36720 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e405f3d6-b324-4168-af54-735eeb720971 CLINVAR:2163677 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 909bb504-9a8c-419b-9f2e-5f8f7fe50ed1 CLINVAR:2163677 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bf2f80e-1aa8-4c63-a2bc-d7932df75860 CLINVAR:36716 biolink:causes MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57fb2c9d-a69f-422d-9f77-41724c9c22d9 CLINVAR:36716 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78871c8a-c499-4322-a965-3afcfedcc5b8 CLINVAR:857069 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6b7476c-47c2-4fba-8f22-e2d9f7eb56ed CLINVAR:857069 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f51600-d8e7-4eb8-b38f-5ac9433bd60b CLINVAR:281042 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e188131c-ddf5-4ace-b048-58e2b93aad83 CLINVAR:281042 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17876d6f-2bc7-48a8-8d67-d081d0b1d3d1 CLINVAR:370886 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d1df0de1-96c8-44db-9d65-0fcedd1fbf25 CLINVAR:370886 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8376cbd1-4871-4d60-b173-3807123e334f CLINVAR:932843 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d5efc364-42a4-49e4-a8ae-1cb3475e72e2 CLINVAR:932843 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 742a00b4-919b-4b24-a344-9d8989024042 CLINVAR:557676 biolink:causes MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 387e5fa3-6b5e-4a7c-a743-43a57ca68740 CLINVAR:557676 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b50ac615-c300-4bfc-8a20-ee9b98d7aa75 CLINVAR:21024 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a66a7316-b77a-4b2f-92d2-f315d1f33972 CLINVAR:21024 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3edb7e1-e361-4c4e-b4d1-47b59d31470b CLINVAR:197662 biolink:genetically_associated_with MONDO:0017623 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6a9b6eb-2500-4900-803d-90e26333e2fe CLINVAR:197662 biolink:is_sequence_variant_of HGNC:9588 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93eed934-1989-4bad-a158-74e858fe37ac CA415086302 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4db7eed-2f12-4bab-a37d-a0024e33260a CA415086302 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7d56bbd-08f7-4771-a9ce-b038873050d5 CLINVAR:983782 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d23081d4-0025-4a4c-a3cd-f53e56718523 CLINVAR:983782 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a04967-fb41-44ae-b7b8-893155a22474 CLINVAR:983781 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 95feede3-5614-4619-9228-b433e6c0280d CLINVAR:983781 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bb5204b-8db3-4971-802a-1430afb25457 CLINVAR:636917 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eed06e06-238b-4dcf-9d98-296af13fc5be CLINVAR:636917 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a954451-9210-4bb8-b1b6-be3ed5996e43 CLINVAR:1323112 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1021861b-47a7-43b6-adf2-307fc55d7598 CLINVAR:1323112 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f929e645-b617-4998-8f4d-a957b13d65ca CLINVAR:418451 biolink:genetically_associated_with MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ca9d025-a4a9-4ebe-93cd-23ca527fe874 CLINVAR:418451 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b4866c5-56a9-4a18-98f1-860f89e971f2 CLINVAR:496900 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fccb461f-316e-4967-8c45-256fa347d335 CLINVAR:496900 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ff4e556-4881-4d8f-8b15-0b8d5e992281 CLINVAR:450358 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f804ee8-05d2-4778-b028-54b4bf8070dd CLINVAR:450358 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d3ea54b-8380-46ea-a4d6-f3443a4c808c CLINVAR:280954 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 071f196b-d0db-495e-b55c-d705d2272399 CLINVAR:280954 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d037f031-3917-4ae9-aa8e-b72b7bff8f70 CLINVAR:928930 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ce75867-1467-4197-bf8a-821a7c80b655 CLINVAR:928930 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00dfff94-a30a-4810-8823-183d6876032e CLINVAR:285197 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 27d5242a-f5ab-491a-8e30-9f778b4abd94 CLINVAR:285197 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 73463c09-d533-4515-9534-17cbfec0a0d4 CLINVAR:4023 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ec57e2db-7cd0-4ddc-981b-192a1d5f8df7 CLINVAR:4023 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 607c677b-fc32-4e2f-b714-ae091c3bc200 CA400029324 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 71ef9a2f-a474-4c93-8433-55e654908ac5 CA400029324 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ed6f30b-4167-42ef-85bf-6a6bce1c18e5 CLINVAR:1803282 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d441113d-6f02-4397-987f-09112a7f39af CLINVAR:1803282 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c79700d-892f-4e82-a325-ee7155e49699 CA2759533408 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9644751e-30c0-42b7-8cdd-762465ff8646 CA2759533408 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa07ff70-6e22-41c6-82eb-947b827f0f69 CA2759533407 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7dabbe76-70bb-4eb3-a81f-45c333ba18b7 CA2759533407 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7172ec5-573f-43bd-8f7c-318ea00fb43b CA8603562 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 522819c4-d619-4d8c-b4e8-535633d06f1a CA8603562 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4320a30-20cf-44db-a538-843d4be7fb03 CA8623258 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebcac7d2-0245-4c71-a97c-9e5c02407581 CA8623258 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7c43562-b0ce-4e00-8aa8-329e47026d27 CA8622981 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69352eea-b90b-44da-80c6-4a602d53c0e3 CA8622981 biolink:is_sequence_variant_of HGNC:6156 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2f4d4f0-68ec-4e54-ad04-d080b9b3d5a2 CLINVAR:627098 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 408f8431-ec7d-45b4-9b62-001b4029b185 CLINVAR:627098 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7271b15a-3a6c-4a64-915d-25dcee99c0ba CA367401570 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6b2ed6ac-1436-45a3-952b-5689c7bdeb14 CA367401570 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57277fd5-eba3-4dae-bdef-d41cccfef0f7 CA367401572 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb58d52a-d3ea-4633-8303-418be003ba1a CA367401572 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d5ba1d9-3b14-4e47-b666-5ed4a4c1cd14 CA2740099755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3260a0fc-2b4c-472e-963a-a8817ea91b4b CA2740099755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc995eac-ebdb-4d38-8670-a79f9dd8812b CLINVAR:1700671 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 16f4e396-c3d7-4235-b0b9-9fa9cdfb92dc CLINVAR:1700671 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen daa4d841-1143-4ff9-ba96-2e6c76ac1bcd CLINVAR:994548 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8a9f84ff-5852-4637-910d-6b0668a29bd8 CLINVAR:994548 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b19b59c2-4e05-415d-b084-4b734480ea84 CA386959402 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b9b1b813-489e-4c9e-8d5d-35d411f054f3 CA386959402 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca9f2c11-5c58-46c0-a42d-3ff603d27f37 CA386959427 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 945bdd50-24e5-4c21-8945-1ef54c39c2fb CA386959427 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8c7baec-c166-46ca-9128-2b552527e6e5 CA386959458 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 161bbd1d-fe6b-46fe-93a8-304f4a9dec85 CA386959458 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3a87bff-fce8-4fe9-acbb-9a03abb86c22 CA386959470 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 673ff04f-54b6-4046-97fb-c5e95331a16f CA386959470 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94a861e5-b817-4c2b-9ea9-ace7ef32e801 CA386959497 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f2ec9a3-893b-4b41-b047-f3d377d5d723 CA386959497 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a1d7aad-1028-4501-82ab-7bd2e7abf63b CA386964629 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 74729f31-c8f1-402e-b6ab-39ba1d3bafd5 CA386964629 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3176b54-44de-41cd-b52f-f91d1bca3de6 CA386964662 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0af921d3-54ce-415c-955c-81d2106d6c2d CA386964662 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0c7570f-9621-4864-bbf1-af547868f5e4 CLINVAR:2916089 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ec5d0dd-6552-41ac-bf6e-52eb5fe0ee89 CLINVAR:2916089 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6cab8f7-9b00-424c-b45a-d5eb1e9ea6fa CA409109837 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 48008f0f-ef5b-4e6e-8971-c745b19076a9 CA409109837 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b387110-c6e6-4927-b0ca-a5631767111f CA409109839 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2a856abc-7d95-4b80-9dbf-63ebc99f8494 CA409109839 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9b63315-e38e-417e-9f6c-9e04e48c3d6d CA409103677 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc0b1155-fad1-4108-a1db-828d9432733b CA409103677 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d2cc2d06-ebac-4be5-9940-f0d3922878a0 CLINVAR:967164 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c42bc88-b694-4959-9915-c848cab186a3 CLINVAR:967164 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b715529-902e-4b8b-bba6-68ab8d5a36d1 CLINVAR:841399 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fe7df16-630d-49f1-93fe-f35481c669c0 CLINVAR:841399 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc4fc002-7d8a-4cab-96ad-53219bb08d1d CLINVAR:835256 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4846a9f6-b73d-410a-89ab-c3e566ebfa90 CLINVAR:835256 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 077fc599-b40a-4aee-8837-0cf05f8d1060 CLINVAR:2050660 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bbfdb60-acb2-484e-978a-660d89e9d4e9 CLINVAR:2050660 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ade2a509-9dd8-4484-a708-8ec5df2132c6 CLINVAR:573475 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 269af98a-b0db-4f70-a69a-6fc80dbde57d CLINVAR:573475 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c84cc5-57e1-4447-b95e-813236986b22 CLINVAR:940774 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 87948096-37ac-4850-81e9-9ec59d008916 CLINVAR:940774 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db797a39-8a46-446b-af60-c2d9850b5e72 CLINVAR:11703 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9ecfddff-8fdb-4fc7-89be-c3fc07fb08db CLINVAR:11703 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa4629d-f12e-4564-aaab-cf3ce0df38bb CA2582129988 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a39d6ec-d9bd-4cbd-ab06-bca6b39886eb CA2582129988 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55fb66ff-dda1-4f1e-85cf-c4b3901f36a1 CA415079038 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ed02db1-3672-4780-9a0e-59ae17a47a58 CA415079038 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3fdc8b8-895d-4f70-8d6f-6dd5305cb231 CA2582115911 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d72e2f3b-3c24-4328-ade6-a1d7f30ac5c0 CA2582115911 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68addd77-3ab1-4992-94f8-553170ad4fdd CA10549330 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c5dcf7a-8897-465d-997c-e85d5d058be9 CA10549330 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05ba2bca-fc10-4eaf-a64d-2c3e213ddb1a CA10549339 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5aeb328e-4624-4e9c-811b-53d09f367978 CA10549339 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38f39a5d-ca73-4574-9631-17ad343ea922 CA10549367 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70f6ff56-7219-40d2-b14e-0bd7e41dd1af CA10549367 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d38e6b5a-3640-44f5-a961-4d2eaf266dc5 CA415080522 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b7bd29b7-73fc-4638-84c1-918ae3f16ab8 CA415080522 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7064278a-2509-4d5c-ab82-1f366909d00a CLINVAR:410218 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d027d0b-57c8-446c-af59-aff1a8ac0a19 CLINVAR:410218 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1b4015aa-08d3-4fad-b9ac-6b9c6af60bfd CLINVAR:488696 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen adfb42ef-73b7-4086-8987-678581b2634c CLINVAR:488696 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff57adb4-e74f-4aee-9232-68bb67c2ae21 CLINVAR:1066149 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1fa66957-c58b-4411-9cdd-152aa15bb060 CLINVAR:1066149 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e73211d9-306d-4d98-8d38-6e2b33c6b1d2 CLINVAR:1305363 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2cde8bf-5d0e-4fe6-917f-94400cb583d6 CLINVAR:1305363 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5718949c-eb56-45a6-991f-309831750993 CLINVAR:633275 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c078a03c-d1bd-40a8-96de-0766e77947c2 CLINVAR:633275 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75df0703-7f43-46f7-af75-241991c17e1c CLINVAR:1677132 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dafbee7c-04db-4f68-b362-ed0b99e0876b CLINVAR:1677132 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b592c6b-b059-4989-8707-acfeb119da76 CLINVAR:9363 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 846bae2e-36f3-4d25-9a82-bf736af5d2fe CLINVAR:9363 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3310d215-6557-4c2c-b436-b064f621f70c CLINVAR:9364 biolink:causes MONDO:0010938 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 291db8cf-5dfb-4369-ba7e-3e1b82c24583 CLINVAR:9364 biolink:is_sequence_variant_of HGNC:6193 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b4615fb-636f-4dbf-b08f-eb718046bba9 CLINVAR:1708141 biolink:causes MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fa82384e-6fb1-4931-be5e-cb14b8b085a6 CLINVAR:1708141 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34379fda-b1e4-45a5-b7fc-5d6405bf9b44 CLINVAR:968126 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4edfc8d2-9f7a-44b4-8fa0-c80fb60759be CLINVAR:968126 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bbfef43-5bd4-4c62-a03f-7c9d1689f643 CLINVAR:653423 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 335d3465-f1ed-4c79-a88f-5945b164c067 CLINVAR:653423 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea084c33-db14-4de3-8109-bfbe7224ea33 CLINVAR:646928 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9774f845-aee2-4ec4-ae2c-b4c70c73ab0c CLINVAR:646928 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e030c76-b80e-4fe8-96b9-3885a148fc1e CLINVAR:576525 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2d42ada3-8727-483e-b517-1b2fc694480a CLINVAR:576525 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b4a4511-0bf5-4004-bb27-9a7ed066c6d6 CLINVAR:647111 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 842f9678-efa2-4d0b-848f-d09372f2acf6 CLINVAR:647111 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a99efb9a-3e64-478e-85f9-7fe2811dcb1d CLINVAR:1022921 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05ece3f8-c2ce-4be0-90f8-30761a4491d3 CLINVAR:1022921 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 184a6b1e-c6f5-4f18-a25b-054c195ba319 CLINVAR:299320 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 344da82d-ea6b-42a6-88b1-30ecb453dde0 CLINVAR:299320 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fab03039-1ce6-46ca-be7f-95ef002af3a8 CLINVAR:1042451 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31ff32cf-0535-4182-9217-18a100d09541 CLINVAR:1042451 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdd67bc9-a83b-46e9-9ee4-6efd0636e757 CLINVAR:288327 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ee38916d-0e75-4735-a9ed-c910b38bb914 CLINVAR:288327 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5910c97-373f-4662-97cf-75db319c0916 CLINVAR:1965651 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc90c9f2-1a09-4e65-b889-bc74549c5cd0 CLINVAR:1965651 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 981974f4-8fa4-4240-9722-47d78e1af96e CLINVAR:666119 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83bab8f7-06aa-4584-989c-a38afdbebcfb CLINVAR:666119 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 179230e9-09b2-4620-a882-1ec226cb4faf CLINVAR:879948 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ffab76b-c719-4286-bf4e-81ecd5c1018f CLINVAR:879948 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 374d74db-84d3-4a91-9bfc-ae05919a972f CLINVAR:1511542 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f86a6b2e-4129-4754-b646-5bb9f14027d9 CLINVAR:1511542 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37df4a99-208d-4600-aff4-9333360a3cd8 CLINVAR:1013704 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f49531d-bccb-43f0-9fd2-ea44cf1b4536 CLINVAR:1013704 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e6d5637-a70b-4fcc-b33c-4f3602ae0b8d CLINVAR:879949 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5f6a847-69dd-4d4e-8068-f21af564d567 CLINVAR:879949 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a3c77f1-7178-4524-952e-79b932653882 CLINVAR:1514295 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f84b72fb-7d25-4c30-8c1b-256d0fd9ebbc CLINVAR:1514295 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3e029a1-0bc4-4e9b-8492-4213c406cf4d CLINVAR:648065 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen acff3b3c-74cc-4392-b154-c176e6945e14 CLINVAR:648065 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c16dbc6e-2139-45e9-b8bf-1fadda45eb27 CLINVAR:1144398 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d51f79d-a996-485d-a751-fd1b72986c95 CLINVAR:1144398 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb6b684e-5aeb-403e-8e71-0d694050650a CLINVAR:418656 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a56e74a8-c37c-430f-94b4-3bc613d274cf CLINVAR:418656 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0c0aa87-7afa-46fa-a35c-f3c89722b7e4 CLINVAR:2138599 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b13cc2f4-35ab-4047-8ed2-6630419507ed CLINVAR:2138599 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b568e5e-d2c7-4fff-95e4-aa14357e53d8 CLINVAR:1507904 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7242fda-0ab1-45ae-9b12-37d1c16426d4 CLINVAR:1507904 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14758d6a-2c13-4aee-8669-95ad6d6f1f9f CLINVAR:1411137 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e4cf6c5e-b593-40cf-9435-fcc5214568a3 CLINVAR:1411137 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69c7978d-5509-4fde-b416-2d8433a528fa CLINVAR:463384 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9291317-4ca7-4d86-82a2-e1c722e6f236 CLINVAR:463384 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3e48963-33f1-4394-b1e2-f9f4c0cecafa CLINVAR:36388 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96beb199-e6b5-4a1a-8001-704e2c3b231e CLINVAR:36388 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8486336e-f850-4496-97e0-4b2f8e2c16da CLINVAR:503682 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b0036b4d-6342-4621-8e8a-6d465901b5e7 CLINVAR:503682 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e193f4d-4f2c-4152-93fc-591c80d954f3 CLINVAR:1172577 biolink:genetically_associated_with MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55c1828e-df8b-4180-9439-851e58862104 CLINVAR:1172577 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d06ab776-1c99-478e-8494-375be88ba325 CLINVAR:1066837 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 54c9d6b8-18a7-48c5-b584-52ce0c62f1b2 CLINVAR:1066837 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d6d440e-358a-45b3-be88-8263489920d4 CLINVAR:463378 biolink:associated_with_increased_likelihood_of MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ed7afcc-6909-4cd2-a975-7bab50312387 CLINVAR:463378 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 069e0b29-8fe6-4752-ae60-0ff6060feaaa CLINVAR:624606 biolink:genetically_associated_with MONDO:0000573 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10e53a1f-11c2-48b3-85a5-51014faae13f CLINVAR:624606 biolink:is_sequence_variant_of HGNC:9832 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b0492f7-a52c-44fb-8c19-c0c5cfbb8682 CLINVAR:955439 biolink:genetically_associated_with MONDO:0021056 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dafa9a1e-96a8-4004-a75f-1f8171880670 CLINVAR:955439 biolink:is_sequence_variant_of HGNC:583 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15ac7b6b-6f76-4906-819f-edb63fcef949 CLINVAR:449383 biolink:causes MONDO:0000572 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4bd5f496-24e7-4fac-9f05-1d6880b6dc00 CLINVAR:449383 biolink:is_sequence_variant_of HGNC:9831 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aefeb8c-69ff-48a9-a767-af0aebc228ea CLINVAR:353268 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a681450b-6428-4e37-b524-5f16cdc00756 CLINVAR:353268 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85f671ea-27cc-40bd-ad98-9c80b146c553 CLINVAR:418257 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b9f95cc-5f1f-4bee-b3f3-bd84107eaa4b CLINVAR:418257 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab08b014-0542-4832-84c9-46666a9e382f CLINVAR:1393864 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6651e2d4-7b70-4a12-8d73-e3d997dc43e8 CLINVAR:1393864 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ff7807c-932c-4804-82b4-1a932ed085af CLINVAR:555727 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 283aad86-c5ee-45e1-9d52-52fdc3e9067d CLINVAR:555727 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 509218a1-f666-4600-a490-e6f090d44315 CLINVAR:1901446 biolink:associated_with_increased_likelihood_of MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8fa4c2f5-b93d-4fed-9940-630f61de5d43 CLINVAR:1901446 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1700aff8-a0e0-40ed-86b7-2409bc114e7f CLINVAR:444650 biolink:genetically_associated_with MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dcd18ae6-3255-4ff4-9baf-dfd6be7e8599 CLINVAR:444650 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccf46a36-007c-4ba4-ae95-9c919ff4fbf1 CLINVAR:1068066 biolink:causes MONDO:0010315 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 00221814-9227-4b4a-a522-461fad587500 CLINVAR:1068066 biolink:is_sequence_variant_of HGNC:6010 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91e46577-ff60-4a87-b550-2f7fb8584749 CA1139771069 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6d80904a-3f11-4de8-ba61-c68b18969436 CA1139771069 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59f07764-2435-456e-9bd2-d52097257eb5 CA1139771060 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a0002618-3265-4813-9ab9-3684a8a9d8b9 CA1139771060 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffba067e-fe3b-4790-8fbf-f523cc3ccf20 CLINVAR:2820100 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3e577519-a076-4ea3-847e-82cd4fa9ea5f CLINVAR:2820100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fca70b24-08d7-4c77-a99b-be2bb6906057 CLINVAR:1710503 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc8b3079-b8a0-4aba-b29b-5d950b0bbcba CLINVAR:1710503 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6b5718f-1a81-4ef4-862b-2dd8a0eaf68f CLINVAR:1484777 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 814b7fed-df01-4a30-abfc-2c3d59302a46 CLINVAR:1484777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 555ebc3d-e2a9-4cc5-b876-c8d6fe708693 CA2695237935 biolink:causes MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 957e9a85-44fc-4665-a778-30270ed769c7 CA2695237935 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae951b6f-257a-4d78-9250-ad127fb07f7d CLINVAR:561109 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75b406df-e5d8-4c90-9351-cb7e2e710ab6 CLINVAR:561109 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35a16007-1d12-4b97-aa9c-153ec4af2d6e CA415086032 biolink:associated_with_increased_likelihood_of MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b4f4749-5f67-428b-bf0d-337e5b7aca39 CA415086032 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 772509e3-4081-4c48-9de2-d138bd44cb83 CA2579916736 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7b4daca3-5cef-41b6-9633-2e6d9219f792 CA2579916736 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d719bb56-bd73-4662-b85e-0b2c3c6e85d7 CLINVAR:428806 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4c586d2-4dfa-4fec-898b-0d964263a812 CLINVAR:428806 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2870cda5-9b36-4d8f-ac44-f4e606dd9b8a CLINVAR:223171 biolink:associated_with_increased_likelihood_of MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ac7df18-0072-4fea-82fc-67768500fbb6 CLINVAR:223171 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c155acf6-8c11-4bba-88ec-99c86a9776b2 CLINVAR:526679 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 98894f9b-61b6-46a3-921a-8693c1c17dd1 CLINVAR:526679 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen caeb59f2-d3d3-4edd-bbd1-97577b4727ce CLINVAR:526673 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1b9e48b7-620d-4bc7-96bf-61d8d1893914 CLINVAR:526673 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f401b42f-7a3b-400f-85ef-269e80edd0af CLINVAR:43597 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c268eb0-2c2f-4f06-acae-d0a1657734bb CLINVAR:43597 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bc94fce-da3c-41ea-9378-a3705fe3e25d CLINVAR:560745 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ad62ccf-a752-4183-823b-cfe391aa5a50 CLINVAR:560745 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0f5f02e-ba28-4754-88df-793c8b6c688e CLINVAR:2225 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ef3bdd1-531a-4036-8a3e-9da375fbde12 CLINVAR:2225 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17024816-03fd-45e1-92c6-d7a71246662d CLINVAR:440404 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00628cd6-782a-499a-b490-ae71c69a0311 CLINVAR:440404 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edc281e4-9a41-4f6c-8e42-a162299d767b CLINVAR:196284 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c323724d-1d74-40b4-a1d7-e8aceabc2afb CLINVAR:196284 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82fa9cfe-a49e-4a2d-a0d8-7e64a076edfb CLINVAR:428794 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen abc88e1d-2e5d-4899-addf-83636c9d890b CLINVAR:428794 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f4638d2-6ce3-46ab-879f-b7faf78aa5a7 CLINVAR:2216 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9bf68607-269a-489f-b730-a94dfc8543ac CLINVAR:2216 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1d4c50a-e8e4-4fc8-a523-0e9988ab7b16 CLINVAR:182959 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen fd7f9553-b6df-4a2b-9086-856048e042d8 CLINVAR:182959 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ad3edebd-15b1-494c-af54-3efab204d30f CLINVAR:411979 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc895212-985c-4d0a-a5ab-0f8ef59b2e18 CLINVAR:411979 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fde629ec-005a-4e70-9be7-90b2d6f11061 CLINVAR:43601 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 36469e40-3fd5-411f-abb3-314da03a99b5 CLINVAR:43601 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b22237f3-1492-4e0b-ae53-d629a168ef68 CLINVAR:141044 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8999596-0644-4756-9418-36905e6e8a64 CLINVAR:141044 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1128302b-e7fb-461a-ae50-9358eb8cb1c1 CLINVAR:223194 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e460e960-c559-4e2a-bffb-92fe49bd8d13 CLINVAR:223194 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb59b2bb-f3cc-4712-bac1-40ef47d6ffe5 CLINVAR:411994 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7dd2b27f-47bb-4131-b038-b4a017ffef9c CLINVAR:411994 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d9e57abc-4a45-469a-83f3-ad199fce77d2 CLINVAR:411978 biolink:genetically_associated_with MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c930652-b5d0-4bd3-9b65-17a75df45744 CLINVAR:411978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbe87266-1505-4f0c-8f7d-f4206ec3a5ce CLINVAR:182977 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8771ab1-d4cf-4882-b584-c656274b9b62 CLINVAR:182977 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8edfb51-0a56-40d8-8acc-93e05079bdfd CLINVAR:93326 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bc7ee795-59b9-4727-9af0-a35c16f027a6 CLINVAR:93326 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60480867-cc4a-4d21-b15f-1af2497a2ebd CLINVAR:941841 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cdf62c5b-0ac3-4096-9829-2fbf57330e71 CLINVAR:941841 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb405d66-2937-459b-b979-1bdeb73599dc CLINVAR:655729 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e767bbef-38c5-4a31-bb2e-3b8c0b82f960 CLINVAR:655729 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af6ea5bd-f15a-4d53-acab-2a5cc5980089 CLINVAR:378124 biolink:genetically_associated_with MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 893bc394-fe0f-42bf-95f7-71a642b11b8f CLINVAR:378124 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 83338e8c-6582-4194-b14d-f325c28023c7 CA2582115078 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 132f9bea-1dce-4942-9b12-3603b5d9261d CA2582115078 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2b011bd-8061-49d8-b8dd-c8122e529044 CLINVAR:1391239 biolink:causes MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ceeaaebc-310e-4991-b864-8b66b7faf0f7 CLINVAR:1391239 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 027cf18f-4ebc-4a8d-97f6-af641dfc00a8 CLINVAR:1334161 biolink:genetically_associated_with MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9ed8f6f-0c7d-4a96-9b92-f6584ad1b3af CLINVAR:1334161 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f16d495-f3cf-4740-9473-c666c787661d CLINVAR:438620 biolink:associated_with_increased_likelihood_of MONDO:0019497 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2ab49924-72cd-4752-95c4-6c44f5807ad5 CLINVAR:438620 biolink:is_sequence_variant_of HGNC:4284 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 831839a7-5e65-40ff-9729-a56fd12a976b CLINVAR:18009 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 105e5c48-7918-4938-819c-86ebd2a75fed CLINVAR:18009 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 36d7739d-238d-4678-8cb5-fc3392b2eab4 CLINVAR:876602 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4b46851-6702-4269-b4d7-90a1cb8071f4 CLINVAR:876602 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f636b7cd-f154-47dc-96c0-f73622eb1e2a CLINVAR:1301540 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 001d8286-9e02-4ef5-97f1-243eb325a06a CLINVAR:1301540 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a146e14-f3bf-42a4-912b-9f1fdf5e7591 CLINVAR:627341 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd4ea06c-1700-4c94-89ce-1269ace0e295 CLINVAR:627341 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b94c713-ece5-4d91-b323-12b5fe61fe77 CLINVAR:661606 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c7169e47-ecb5-4e9e-b76e-2b62e8ab2678 CLINVAR:661606 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 416efcca-6f3d-4624-a703-ed439993d766 CLINVAR:18030 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f4425884-3545-43d9-be99-d14face98c18 CLINVAR:18030 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f63e2a-c194-47a2-a831-7f9bde9e73e1 CLINVAR:2267274 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1147e641-f32a-49fc-883a-40ff708fbe2a CLINVAR:2267274 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fbede07-d63b-4f83-9f74-2518d9d98862 CLINVAR:940768 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ceb1d68-7fa5-4afe-af7b-a7e9b3d7fd9c CLINVAR:940768 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a702fe0-b500-44f4-bff0-bca8511dca46 CLINVAR:293841 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7614f889-1be1-4108-9352-577c42be8fda CLINVAR:293841 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0a62e99-ec37-4074-9be6-d3042d4b1c8b CA367402543 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9dadb890-ab19-46c0-a433-7fef6e3f7c2f CA367402543 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70829d51-6c51-444e-8fdd-49bea767b98b CA414905047 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c6b6b54-e94f-4402-af96-bfc27e96dd26 CA414905047 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2a85a35-3b42-4f3f-be79-47c7076742a0 CLINVAR:10253 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9c8172e-15df-432b-b70d-a67239dc2f30 CLINVAR:10253 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d813d755-43a9-4d59-bdf9-4683864ddf4e CLINVAR:10236 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e9eab6b1-37f0-4824-b087-3dd988da6039 CLINVAR:10236 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33f9e398-19d7-452b-b613-ba1081fddbaf CLINVAR:2775446 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4f00aa16-ede8-4c2b-9900-b38cbd2877f9 CLINVAR:2775446 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c0439c8-6542-4b45-8876-a05edadc9c13 CA414916097 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36b64fbe-90ee-44a3-ac75-b45bf8a1027f CA414916097 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2418ef5a-7852-41a3-80dd-a7c9a2b2b67b CLINVAR:10208 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5117ea3e-b678-48cf-a2cf-d6fec41052e6 CLINVAR:10208 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 038ddc96-87ba-4268-92f2-350691356e8f CLINVAR:10195 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c49d21d9-cd97-4e6d-829a-324395112bf3 CLINVAR:10195 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c03ab33f-e16f-4458-babc-384607ec6005 CA414896830 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen af024d72-cad9-44bc-a335-7fbb2f5d9253 CA414896830 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 748efde7-9d79-4294-ab2e-1d717c33c5c3 CLINVAR:10085 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4288d5f9-e442-43d0-b477-61d05382455c CLINVAR:10085 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 564e5edb-d368-40bb-8416-a6afbfa2a4ac CA414447210 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 672c0fdb-31eb-419d-96d8-1e72cb6faee9 CA414447210 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a2a1c16-0288-4594-bd59-a9dc2563b1aa CA414447212 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 905cd9c5-f496-4295-87ad-b5bdee9bafb4 CA414447212 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cfca85d-db4a-4b66-b989-0bf4097dfda4 CA414447216 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d050adb9-60cd-44ea-bd29-ad8c72ca7c7d CA414447216 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae18f2a5-20eb-452d-9573-62037df25d96 CLINVAR:811512 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 694d7a41-db50-451d-8ae1-6cd0ad0d1bd4 CLINVAR:811512 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a60b749-064b-4210-82d3-207dad0c62b8 CA414915809 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d8ecef4e-0d06-4f92-b2f9-6a55e836c1ab CA414915809 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d0d8bcc-0abb-4d75-a3b8-f3a1eb9d8046 CA414447354 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6fe76939-a4d6-45b6-ad52-ac1db93c60b8 CA414447354 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b6aed1-4928-4dde-b83e-a6c1bdf6fd63 CA414447351 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 320e708c-c95d-47c2-905f-2ea35c9b49d5 CA414447351 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05d10d42-9437-478d-b15a-1766aa5012be CA414446711 biolink:genetically_associated_with MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1677d1df-d3ce-42d8-9b7a-59f94ad3965d CA414446711 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 930cf9c1-c9b2-4f5f-8ef9-321141690c2f CLINVAR:651569 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99b7e913-7558-4100-b296-6b1fee22d3d2 CLINVAR:651569 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4be4bbe-2a74-470c-a5d7-2b4c685b0acd CA414445371 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4107ac8a-d1f7-4981-89e2-3863b29095c0 CA414445371 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c817c6d-c463-4d97-ad3e-da800f6fff93 CLINVAR:626950 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0772c82b-388d-4465-b889-d9e1cdb7fd1d CLINVAR:626950 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8290add2-552e-482c-9f3f-502794079851 CA414447533 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cfc2ed73-721e-466a-8b1a-672f17965d45 CA414447533 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 387a2aa4-7816-421b-91ea-331f78bb78e2 CLINVAR:10587 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 06120b8f-3d42-4d98-8fd1-359f489f8451 CLINVAR:10587 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 275e504c-8208-42af-abe8-91c7ee9b6852 CLINVAR:10585 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a69ad3c9-f6dd-4218-b7b1-6fd4e7c9b056 CLINVAR:10585 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74725eda-faf8-44dc-860f-6570a348cfd0 CLINVAR:810867 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5f21c2a-b369-478c-9723-6fa2604f4445 CLINVAR:810867 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75eb3d73-f71a-45f6-8844-82d374c4d5f0 CLINVAR:10572 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bd20ad99-b59a-46c5-b88e-af21d634e801 CLINVAR:10572 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57aef7c-04a4-4d4d-a0ce-280df52530aa CLINVAR:216926 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c1d382c2-96b0-422f-a0e0-4d504c14244c CLINVAR:216926 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 081046e1-5ffe-41bb-83ff-2d5e855c0586 CLINVAR:10579 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2286ccc5-e237-42c3-8799-33d505ea7bc9 CLINVAR:10579 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 168d6a18-b5af-45f4-b139-9600071a3fa6 CLINVAR:2775451 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1ba2db0b-18fc-49e6-93b2-eb1df6653abd CLINVAR:2775451 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 795a34a8-54d0-4534-94c9-2d954d6ab61b CLINVAR:2775450 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9cf8cea-8d3d-479e-b5e9-5251580ad186 CLINVAR:2775450 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe4fe5f3-3b84-4670-a922-7b09a5da84d2 CLINVAR:627328 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23721392-98e7-49bb-894f-f177926b4ffb CLINVAR:627328 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d9b3fc8-e734-4ec3-832e-b4d1012ccd4f CLINVAR:10256 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7a50df76-ed1b-46ed-8976-3bdbb9d19c65 CLINVAR:10256 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93128f44-4e0b-4dc5-815b-760ee95a2de5 CLINVAR:10294 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78acb16c-982e-4565-93a9-2929e7aa1eba CLINVAR:10294 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f1c6843-3616-49fc-afa9-3f95e3f89bc4 CLINVAR:10274 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02d7110b-a19c-4eed-bf05-9de19e448c6e CLINVAR:10274 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 364d92fb-6653-48ce-8e08-479866bcb18c CLINVAR:2775449 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 63da687d-97b9-40ee-be2d-3a7e5895a9d3 CLINVAR:2775449 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d721e54-a7b9-4e18-827a-f3b998b0323c CLINVAR:10232 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2e070fa-e762-4c5e-8c9f-9e73bc50bed4 CLINVAR:10232 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a24d83ce-4742-4179-8890-e99f7b5d6aef CLINVAR:10247 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24747072-0027-46fd-b2d2-03b80ca35f55 CLINVAR:10247 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 367792fc-4824-4fe9-a136-24bee2b9d19d CLINVAR:2775448 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce97fa98-5464-4ed4-a6cb-196ee955c7c6 CLINVAR:2775448 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89d1cdb6-5174-45e1-a3be-bc681acae5c2 CLINVAR:10139 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c0d38e63-9aa9-422c-98e6-066d995bd9cb CLINVAR:10139 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56ad24c8-70b3-42b4-a860-5a4e8d97ecc2 CLINVAR:2775447 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 438cf10b-9d39-4bb1-8687-777111bc0004 CLINVAR:2775447 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4f2fb0c-e9aa-49c2-9bbb-1a04c5fa56e9 CLINVAR:10304 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d9ecf580-fac4-486a-b367-d720884dd27b CLINVAR:10304 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 473e8ef0-de36-45dd-a83c-32d240090005 CLINVAR:10327 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 674054f5-203a-4e7e-b9fe-d0ce25550b12 CLINVAR:10327 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 902bf638-0e8b-446b-b592-b3dbaf984442 CLINVAR:2775445 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3e0c5028-b895-47b2-b86b-6a339b653421 CLINVAR:2775445 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5f79a33-f96c-43e6-b066-46743b46f23f CLINVAR:2775444 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ab64ff88-9479-4a52-b211-ff33e41b3269 CLINVAR:2775444 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab11556a-cee0-4b5b-9fd5-916fc463a4d8 CLINVAR:627165 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d864067-439f-4f4b-b217-5565cb58ce2a CLINVAR:627165 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f4af924-a3bf-4349-96a0-b7e7bccacda3 CLINVAR:449370 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dea93c2a-5869-4c7e-8085-68075227d742 CLINVAR:449370 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de8675a6-d78a-4b7b-9ed8-8b5d46a96e28 CLINVAR:618104 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3a63438-5f05-4290-a096-b9eaeddf35a3 CLINVAR:618104 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89b660c7-a3e9-4664-9b34-e3c6efbe6e51 CLINVAR:10226 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c47d1c65-82fe-43c9-bebf-477618d68672 CLINVAR:10226 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7eaa5010-621e-48dc-a224-ff11b8989660 CLINVAR:10225 biolink:causes MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a25ebf0-457e-46ec-93e1-ddc1ebf1e021 CLINVAR:10225 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b01c5cf2-0346-4f4f-a5ed-71832a3a7f95 CLINVAR:2130981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67fa66b7-2be9-45a1-9cdf-602354be2c3f CLINVAR:2130981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95711426-11cd-4ff4-acfc-6809095449ec CLINVAR:580214 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen add93b74-6b44-4ec9-9320-c653ffb91ed7 CLINVAR:580214 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9126d70f-a0c3-41ad-b83d-4d580d3c489e CLINVAR:843571 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f317be01-cdc6-48e2-a3ef-33514cc462ad CLINVAR:843571 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f99344f4-c230-4c3f-a81b-8ce495fce0c6 CLINVAR:1692640 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a87b8811-169b-420d-929e-ae5066bc4bac CLINVAR:1692640 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b762719-6fa3-4f91-8ab0-11080ab887c2 CLINVAR:948047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23a15be7-75da-4ed0-b0f7-fdbeb3621e22 CLINVAR:948047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd7515fc-550a-426f-9374-1adf96b7483c CLINVAR:1053850 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 659bcdb5-bdd5-4c4d-b951-72e8e1ddf32c CLINVAR:1053850 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14e11fe5-e343-476d-a93d-0b8ede0654fd CLINVAR:837414 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51f09554-640e-47e6-bcf3-2d4bc685113a CLINVAR:837414 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 257e95e4-a1ca-48fe-bd09-04205c9883f9 CLINVAR:1424427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70bd7125-9795-49b7-8754-77fc7c4b52eb CLINVAR:1424427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554cb23e-6431-46d3-868d-5ddbacaf265a CLINVAR:2435493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen af8265f2-5f64-4b74-9f22-a3dd8dc2f995 CLINVAR:2435493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a29d92e3-3510-4a14-9493-9c5a7ad97a0b CLINVAR:1482695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 42455084-4f93-4cd2-825a-c9386ab00eee CLINVAR:1482695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf6d0caa-cc87-41b9-bcf2-61d18e8cf8ca CLINVAR:1722154 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfd17952-5b27-4f70-8c4e-d75573e17eda CLINVAR:1722154 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42dfe8c8-b676-4c47-af66-fa393494e773 CLINVAR:2047695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b3eb96b-dcf7-474c-915e-870e58baa8bf CLINVAR:2047695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b501fe84-8c94-420a-8fab-b0409954495b CLINVAR:1487660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 05f88a27-6623-4bb7-b944-13ba74cb399e CLINVAR:1487660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffefaf95-1fab-4585-a6ce-d16573dbc3ed CLINVAR:1722136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 664ba3f3-181e-45d2-9f38-2f5d27be89c1 CLINVAR:1722136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76a1f914-8df1-4ee5-b0c8-cada699b298c CLINVAR:1692648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b785638f-5620-4ea3-a8d4-e4ca96f90539 CLINVAR:1692648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 706d4137-fb24-42fb-a8a0-7ae98e648f4d CLINVAR:1352428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a035ce6e-346f-4d08-9095-a188d0b7ee5e CLINVAR:1352428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c931577c-7df1-4431-9323-c7843af90f7e CLINVAR:951606 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cadc896a-84b2-4540-bb0c-32a32d5b9520 CLINVAR:951606 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8291851-31e3-4e47-b861-2e638609f120 CLINVAR:464004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb866984-da47-40fd-b3b9-3c7f074a319a CLINVAR:464004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d5fbed70-3fa2-40cd-a1ef-1e665fe14f57 CLINVAR:1703791 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0c01cdf-d01d-47a5-811a-5f73f4ad3c5a CLINVAR:1703791 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3b93947b-0c85-4d8b-afe4-2766feb6479a CLINVAR:1024050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01b6bd3b-8003-4b3c-b3e1-7ccbc633b54c CLINVAR:1024050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 010a216d-af19-4cb9-b1dc-0f132eb8a369 CLINVAR:239046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd41c764-af14-4ff0-a4a3-be9532acff8e CLINVAR:239046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 059727c1-9633-40b9-921d-9346a1ba048f CA410202636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3507007f-6915-4c8d-8f67-fb635810607d CA410202636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c147cf5a-fe68-449e-8d95-a111d1ef890f CLINVAR:436615 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7e07b4b-a71b-4764-9832-22854f6dd5db CLINVAR:436615 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6216aedf-931c-44e3-aa7a-6d2a1c042e9c CLINVAR:853648 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 335567e8-1e20-4033-8b08-5780959af077 CLINVAR:853648 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4af4de4-25d4-4e5e-8d00-5c06a368837b CLINVAR:856424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1d83468d-5371-4f9c-b099-92736a2c97c9 CLINVAR:856424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 920f183c-13c3-4cba-aa24-36dd8134583a CLINVAR:860155 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4ae82f62-8bb0-4034-93ac-9b27ce526f9d CLINVAR:860155 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53a46bdf-6108-4899-8343-30d4771f1f7d CLINVAR:1496304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 640968d7-d79d-45c2-9966-d1cd9314d54b CLINVAR:1496304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92764338-efe3-46d3-9cb1-32cf18b06eb2 CLINVAR:463983 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9cc8549c-0b2e-4a11-a019-feba2bdfe6c2 CLINVAR:463983 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45986fff-9500-476b-8d2a-fc0ed91f9376 CLINVAR:1709200 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7bda01ab-058b-4d9e-896c-8707a4b29458 CLINVAR:1709200 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12cd0ecd-7638-4114-aefb-318b36911b42 CLINVAR:1016458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3af96a66-ab5c-4216-a555-450ee549af2d CLINVAR:1016458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 980a5d05-fb07-41e5-93ca-dc4e43991827 CLINVAR:962678 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 758aa2b3-2f4e-4baa-b436-21685d90968a CLINVAR:962678 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8461dfdf-b8d6-4b88-8f46-b206e7474abf CLINVAR:959847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2ec4792-d92e-429b-a390-03cffebc348e CLINVAR:959847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf481a5b-dcec-496e-8f07-ac517f92df4f CLINVAR:956754 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b124ade9-d28a-4d80-8e99-943b4658583a CLINVAR:956754 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cfc3df3-36c4-41e7-9fcf-0d78be0d4f7e CLINVAR:949338 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9be6e0eb-b63c-479d-808c-583b61f963b7 CLINVAR:949338 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea7d14a1-60bb-461e-8fb8-60010c0d4261 CLINVAR:860286 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 535d630b-c1e6-4787-98d7-87c60c65684c CLINVAR:860286 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1af4d5d9-da0d-49b2-bea4-d9a6ba19771b CLINVAR:845897 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fea36eb-834b-4f13-adb0-bbcc242b454d CLINVAR:845897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dba42a5c-23c9-41c6-803a-0955221f35b9 CLINVAR:655133 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8689ef4-4064-4fe4-9c72-1542d2db71da CLINVAR:655133 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be0a04b7-e406-4149-8109-69b13cc4668a CLINVAR:1401789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc60f721-faa5-45d6-9d32-317b61e2248e CLINVAR:1401789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen efea1a48-82f5-4fe4-ba26-1c0a35bdd6f2 CLINVAR:570999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1564e22c-969a-472a-93cd-bf40618d7807 CLINVAR:570999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96be5af8-3cfe-4f73-a276-39b7ffefef1b CLINVAR:1359458 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29e3abba-5fda-4a23-bb39-5919e541081c CLINVAR:1359458 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e548aeb6-76b3-46f0-8613-e9552cd89098 CLINVAR:2087940 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48c6686c-3e2a-4f11-8ff4-48e479236c03 CLINVAR:2087940 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb580aef-03b9-4b3e-be95-ed5ebf61da85 CLINVAR:1115091 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0f23655-ab5b-4953-a563-77cecbac5d36 CLINVAR:1115091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11e94c65-14b0-4a65-9ba0-77dcdb806128 CLINVAR:409825 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4c84342e-7bf4-4b55-bb99-fc5791793109 CLINVAR:409825 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60070fd6-a9e4-43c3-a91f-f8a6c1fd4d56 CLINVAR:561241 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4549674a-9ee9-403f-9b7a-ec288e291fe7 CLINVAR:561241 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42ee06b3-919c-4218-bfde-e2ee1dc09d46 CLINVAR:862114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8e84513-b146-446f-9b9b-cf2fa3e07044 CLINVAR:862114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c89799a6-191d-4364-b188-b081082d2f61 CLINVAR:561239 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25c27431-3627-4386-bf17-579e5fa745a2 CLINVAR:561239 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de1a1f94-8915-4439-b95a-b5b6ce724e64 CLINVAR:1692641 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bd780f8-2f1d-4b8d-b0e1-b10e2839e366 CLINVAR:1692641 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00857e3b-2341-4cc4-adcb-bb9d5b95ae50 CLINVAR:1692642 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 664016c7-50bb-4abf-9c86-b11aa232dc78 CLINVAR:1692642 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692030e3-6c07-4cdb-baa2-29df0b95c709 CLINVAR:1389496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0a776ecc-1bbc-4a5d-81c2-42b97a5970c1 CLINVAR:1389496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 08ce3944-aa38-4518-933c-0d18f06bcff3 CA410202624 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 282eeac4-be1c-4dad-9eb5-9c4f922a22ad CA410202624 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e713b1d-3cd9-4172-8bb7-cbdf17d67a74 CLINVAR:1005132 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76994901-1cc7-41de-acbb-a95bcc13e241 CLINVAR:1005132 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22006051-def0-47f1-affe-35658a945c31 CLINVAR:968245 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5252b5b5-76cd-45ee-a2d2-408c24b4349d CLINVAR:968245 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3130e38-04f2-45d3-a569-9ce20cd5a4d0 CLINVAR:2145852 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38c4492d-a82e-48e6-a458-a18e31b5fec9 CLINVAR:2145852 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e4ec51c-f04d-4773-8bd3-82536dc24c96 CLINVAR:1721206 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01af03a6-7f33-44d1-bbe2-e5c26773d631 CLINVAR:1721206 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d6937dc-a57c-4ca1-b37f-ba64d45acb14 CLINVAR:1128874 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b41ede0-1ddc-4644-84c0-ce17992a89db CLINVAR:1128874 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d893fab-c5e7-46d9-b4ac-1999b758cd5f CLINVAR:1142515 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b35dd8b8-6e25-4fe7-83df-cd2188f55022 CLINVAR:1142515 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 972d955d-8fb8-43e7-a5d1-676110fd8977 CLINVAR:935710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d16ed416-801f-46e6-93c6-3f09757c9751 CLINVAR:935710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00aaf8cd-d5c9-4790-9c9b-a8bea4cb6e8b CLINVAR:840868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f72a972-7c30-4e1e-99fd-1a712208f8f2 CLINVAR:840868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ecf4201-b9e4-45ff-9e80-64632e1582c6 CLINVAR:641150 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 31153c95-69b5-45ed-a79b-28984403c45e CLINVAR:641150 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a68b71e-005d-409b-8289-be34da66a718 CLINVAR:660172 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 96cc0992-a502-49b8-9641-1e8dbfd3a7b8 CLINVAR:660172 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94060ee6-58bc-4574-adc3-21fe8abf4902 CA16020817 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 15e847fc-0b2f-49a3-8069-6a4fe8dc87bc CA16020817 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03c541eb-7a01-4e9b-83d3-fab647ca27fa CLINVAR:2226 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8d3132b7-0205-4ada-8e97-fccd7423b616 CLINVAR:2226 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e817c824-8a64-48a3-a199-13e3405a1f67 CLINVAR:182978 biolink:causes MONDO:0008667 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 62ea1c56-57df-490f-a3da-0e2941978ae8 CLINVAR:182978 biolink:is_sequence_variant_of HGNC:12687 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c5eff58-fe4e-4636-8979-321493cd8902 CLINVAR:988847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1db3c427-29a0-40ad-a4c7-5e3c2ae0d5f1 CLINVAR:988847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46b664c2-c111-4781-9bc1-368ab14bd4ab CLINVAR:1097518 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8e789df-ad60-4e5e-8e03-1f6c6aaaa470 CLINVAR:1097518 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1ec9161-237b-4207-bf99-d0c0b832f787 CLINVAR:1014459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6be261e-b288-4ab7-96b9-58c418ccd71c CLINVAR:1014459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1347694f-70ce-46c4-897e-5db096f83207 CLINVAR:464003 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b83779cc-d340-414e-95d3-692bfb156188 CLINVAR:464003 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca5ba403-bb3f-45af-acfe-77dadef68ca8 CLINVAR:1125165 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfe998c5-adeb-4c45-aa32-9ecc5f3cea33 CLINVAR:1125165 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7da904d5-f4d9-4919-bdf3-d0828f436cff CLINVAR:1094989 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd33a8e1-021f-40cb-b5c6-86cb300dfede CLINVAR:1094989 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e5a586e-cb7d-4972-bb76-3082982d0f4c CLINVAR:1025166 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd9b2bbb-41b7-4983-bfdd-7997d4907502 CLINVAR:1025166 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a5e0f60-e933-42dc-93cf-d57c7699865b CLINVAR:239050 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a1c9367-2a16-4611-81f2-26e1da3474b2 CLINVAR:239050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc52dfb2-69f1-48e6-91ed-dbb12caaa770 CLINVAR:649370 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7377f5ce-f179-48f1-9da2-6c40af524022 CLINVAR:649370 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7a8b474-93cd-4036-9cfe-0dad579800c3 CLINVAR:1009786 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 571fe4f4-58af-496f-81e0-1d5777520260 CLINVAR:1009786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 665674f1-b872-4801-ac89-9283bdad037e CLINVAR:1077574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28c829a4-b486-4177-bc13-1274822e690c CLINVAR:1077574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7132a0e1-0768-48dd-95f2-3cd47db96724 CLINVAR:1417068 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 28b323d0-66e5-49ab-8b25-632425b9ea69 CLINVAR:1417068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e3c16ec-87e4-4ee5-98db-d0622136ff8d CLINVAR:2417866 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e57ca84b-5900-4568-a478-ec851d2276b8 CLINVAR:2417866 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 241d9c0c-d721-4d9e-8e30-4456e39c7f7e CLINVAR:1524897 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4c446c3-da42-4d16-9c30-0d9e16d4ad23 CLINVAR:1524897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 657dd678-69c5-4339-99ec-08fc618299cd CLINVAR:1496240 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5574a519-9b21-4d28-b112-4343ff4948ab CLINVAR:1496240 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c887af0-e560-4b98-8f1b-b70a3e04bce6 CLINVAR:2071711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bc7e6b1-f79d-4fbf-b6e6-427b462611f7 CLINVAR:2071711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf47bf23-3165-4663-928f-6c1e9791be1e CLINVAR:1156194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0161a3c8-ab39-4f93-9c1e-e167e2b3ccc7 CLINVAR:1156194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c795f11f-a024-4f98-8e76-822f3e93f249 CLINVAR:1321699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7473c9f4-1d0b-47c4-a576-6caf50037975 CLINVAR:1321699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9c13dac-6d4d-45a7-8102-12f74a4105b4 CLINVAR:1374525 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e9bbff5f-f232-421e-bc3f-8ae2bc0f4112 CLINVAR:1374525 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c10ed0f5-9941-4c60-bbb6-715b681850e5 CLINVAR:964908 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09ae882b-740d-42f5-8e2f-8e4678112cf7 CLINVAR:964908 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d341ffbc-efcc-4d20-acc5-b4439930e88b CLINVAR:1052351 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3eeff4bc-92bd-479b-bbd3-2f63b8bede7a CLINVAR:1052351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 01bfe602-c03c-4c9c-bf76-a04f76c86b7b CLINVAR:1348351 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d411e099-eeb6-4597-80b4-02439f534900 CLINVAR:1348351 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4693d8c1-0ef8-4d84-b85f-fc0c24fb979f CLINVAR:1723808 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c696041b-7a8f-42db-93c9-59f06073ac59 CLINVAR:1723808 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd82b54-6d59-4a31-85c3-b69845f83798 CLINVAR:956982 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82a2bd5f-a9a7-4dea-9709-b0fab5e99d8d CLINVAR:956982 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 668bd552-0e42-4e9b-aa2e-e384f305a2e8 CLINVAR:2163996 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2718c34-cae6-4e15-9839-68511b213ea5 CLINVAR:2163996 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fd946826-55c7-4977-9c58-21d57d9801be CLINVAR:837795 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2100d359-190b-4175-a5e5-ea4e958005a9 CLINVAR:837795 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db9cf22f-eda3-4bca-969f-c2a1bd4096ae CLINVAR:1396766 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 117e31b2-550d-4bc5-934a-b0edd7b26a90 CLINVAR:1396766 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7cd4d08d-9704-4d0d-bd1c-be0a90362cf3 CLINVAR:532667 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ddf910ef-66a8-4fca-8ae9-d0dcfb871969 CLINVAR:532667 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbb7d747-5fb2-4628-bfc3-7673189c6807 CLINVAR:1010913 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a507d135-019b-4d4d-9cef-80ebc27c7cd8 CLINVAR:1010913 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc1cfe44-6a12-45ee-8b18-9232f87921de CLINVAR:1022052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de9af68f-730a-44d8-b0a1-402b9d08074f CLINVAR:1022052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ea2affa-968e-47c6-b7c0-55c3aaf7fefb CLINVAR:837567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69ced0ad-2a1e-4058-a542-b0ee88250f7d CLINVAR:837567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1fd0420-9103-47e3-bf07-8760189934fc CLINVAR:2150091 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94b72409-90ff-4042-9419-4eb9201641b4 CLINVAR:2150091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef62bf54-1077-475e-9803-87ca255dba02 CLINVAR:1951250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f35dcc2-13fc-403a-8d26-9813213dbef5 CLINVAR:1951250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0d7ef2b-f2ab-45c9-8bc6-5360ba00ea6e CLINVAR:1533052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1592a845-5b5f-47cd-a1fe-c54fd8f3671c CLINVAR:1533052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc26fd29-8115-4743-ad3e-6978b307c33a CLINVAR:2060504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29fb1e4d-4030-4b3d-a61b-d20e9be91ffe CLINVAR:2060504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 711b81eb-8827-4f71-8be3-e2d26d723f90 CLINVAR:1514344 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b5dccac8-ef94-47e1-a904-1d04176c5cdf CLINVAR:1514344 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9604fed3-3f1e-4c77-90e5-cd13afa7a630 CLINVAR:2002578 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45b3ac11-1aa3-458e-a585-f5d4bb08948b CLINVAR:2002578 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c31d3cf6-4495-4686-b94b-5fcca3b75391 CLINVAR:960077 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04da2783-d1e3-4916-82c2-10c7a57c4de0 CLINVAR:960077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a94b6379-d8e5-475f-b7c8-344269e3a49b CLINVAR:999481 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f64eed0-2221-48b5-b109-7e0e7893eaa7 CLINVAR:999481 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d150afb-5054-4113-b704-194e15270bc5 CA913179026 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2c0489ee-b47c-4a04-9dfd-607b97edfd9c CLINVAR:9596 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 04c3fee4-71a9-45e9-bc20-74d6dbd1b36a CLINVAR:689929 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 63a19e0f-e52c-41ba-95c1-fdbae3240236 CA2573320431 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 170fd136-bc91-4634-ad31-c93d8392cc81 CLINVAR:430689 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 291b33f9-618d-4b52-8e0e-d88bf000abb3 CLINVAR:636202 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f3e6897e-083a-40f7-8d19-1cd5249bdbd3 CLINVAR:636202 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef4b6eff-181a-40fe-9b87-ebdc62ea2b59 CLINVAR:870345 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d6a63fcb-df97-4f7e-ae66-1b68d97ce7ee CLINVAR:870345 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 231b7890-925a-4ec1-93ed-84c20403c0b2 CLINVAR:2678439 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4e38719e-cecb-45bf-8117-6d04cbac06f9 CLINVAR:2678439 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9109f219-2ba1-46fc-a7ed-f780b869fce1 CLINVAR:13115 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d2674994-8be6-4dfb-abfa-6fc7c53c1ccc CLINVAR:13115 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2e5eb00-1d5a-4238-9167-7098e91c65a4 CA2580612188 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7ae201e-2f19-40ab-bcc6-0942cc331c99 CA2580612188 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60a67a16-d820-433d-9686-a567e937e31e CLINVAR:98868 biolink:associated_with_increased_likelihood_of MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aedca070-b508-477f-ae52-c92f633c45a0 CLINVAR:98868 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc2f755f-9fcd-4088-ab90-d42a62d52145 CLINVAR:812758 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cad5a7b3-4f13-4e23-b852-696980f4a91f CLINVAR:812758 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07e0993f-e719-4b50-8447-1dff53dfb16f CLINVAR:874235 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a2866e4-6492-4096-8da9-b3065f5d6df1 CLINVAR:874235 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 659efd48-38f4-4725-9765-f4b2d7503498 CLINVAR:298022 biolink:genetically_associated_with MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b4f19eba-8995-4403-a42b-5f4b40de13e3 CLINVAR:298022 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c36035b4-d026-4a9d-b984-595dc94ba31f CLINVAR:98843 biolink:causes MONDO:0100368 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6908a8d9-40c7-4ba0-9541-36ea9d75f7d8 CLINVAR:98843 biolink:is_sequence_variant_of HGNC:10294 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85b92fe5-a763-4493-a30a-c279379875a2 CLINVAR:235698 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f934b2e-73d9-46cd-9196-bb7dd817a98a CLINVAR:39575 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5dd504dd-d80f-41ad-a902-cf2aa209511e CLINVAR:618222 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfa7d446-afa2-4646-aeef-8257c8a63eef CLINVAR:9682 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c6fa666-f3b8-42a8-99f3-989e44edda36 CLINVAR:9680 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d0735681-cec8-4f92-a909-e857874e3089 CLINVAR:949591 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b10e11d9-fbf0-4426-b595-6aa9c12739a0 CLINVAR:949591 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f64df44b-2c4d-466f-8bec-497e0507fd00 CLINVAR:2088789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b6a4144-b96e-4a9a-a896-5ad7a084723e CLINVAR:2088789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 00679b4e-d4f3-42dc-9bdb-ab5a5c5ebd42 CLINVAR:2089191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bca63f5-cfbd-46fb-aaee-89e5602748ae CLINVAR:2089191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 50c06b63-ba51-4ce3-87ed-709f8eb8df4b CLINVAR:1024911 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58838e0d-beca-4249-b3a6-6dd8dee65102 CLINVAR:1024911 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68bd3e39-9025-4c01-b193-1b615e280d61 CLINVAR:2078130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5de5d0e-ca03-49da-b763-5632431fab4a CLINVAR:2078130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39cfe433-d435-4cd4-b945-573b4ac5ca57 CLINVAR:2151600 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2aacccfb-46d6-4424-a984-f300f94d75eb CLINVAR:2151600 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 076189bd-b6ae-4afc-a4aa-28ba2f099485 CLINVAR:2089328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f855ad85-f466-4cd1-b887-4e0b42ccc2be CLINVAR:2089328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 45f10137-5040-404b-886d-a19ed6a05de7 CLINVAR:1986052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dee59284-68bf-424a-bdc4-7323542ec138 CLINVAR:1986052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7430e32b-9f28-44f1-807f-0e083bd849b2 CLINVAR:988809 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a476bdf4-6106-4d0f-b6a5-835f285f84f8 CLINVAR:988809 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 158b1f89-bcda-4a3a-9617-c1375df4deff CLINVAR:2094507 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d6043218-e597-4d1f-8ddf-5e7a7908202e CLINVAR:2094507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da4b2f94-0cc3-4575-b12a-ff78bd7ad58e CLINVAR:627100 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cab79d86-4bd3-40e5-be3f-10b0f4d02ff3 CLINVAR:627100 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 353bc52f-ccab-4767-8f2c-a34b742648d3 CLINVAR:660565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d6346fa-f63a-418e-96d5-1413fda46f51 CLINVAR:660565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8b6923a-bb07-422d-aefd-4581b9dbe1c2 CLINVAR:1684453 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21df6402-4e66-4b7f-902f-315583e64ee7 CLINVAR:1684453 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a68724ac-4d52-4ee4-8cd0-62854e27cce6 CLINVAR:935114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98aaefbd-e549-4167-b9bc-dee1e9d30b09 CLINVAR:935114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae245343-5d6a-4747-a965-24c86cd3de4a CLINVAR:1466432 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1d88867-80e3-4a40-9c71-33159fdf3a9e CLINVAR:1466432 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 250ac3f2-38ed-4570-b2c2-5e0ce704e8d2 CLINVAR:971877 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f99e1517-bc33-42cf-963e-7d3afa51dfcb CLINVAR:971877 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e3b4b16b-a7ca-470c-be76-172ec6478561 CLINVAR:839213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b14e1e15-d620-42c1-8277-a638b85677eb CLINVAR:839213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71b68d13-0317-4afe-99ba-8a5a666241ae CLINVAR:1382220 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e84eb357-ad2c-4df1-91d2-b2391d3d3dd0 CLINVAR:1382220 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44435fd2-ef64-42a1-ac81-6e0a8db89d29 CLINVAR:532669 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 98e19554-63ed-4b5d-ab5e-0c0658ebea51 CLINVAR:532669 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c0a779d-5752-4d1b-9824-9fc78842666f CLINVAR:2126194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 900dfedb-d5e6-4423-b5be-163a03c764a4 CLINVAR:2126194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2909bc24-4d33-4ab5-98b5-3084e699f6d0 CLINVAR:532670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22289857-9beb-4ecd-af3c-e0a2615622f4 CLINVAR:532670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc585b07-fad2-4781-85c8-78257f3061eb CLINVAR:2076125 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6e866df-7ef5-458b-aa42-2dd89ae022e1 CLINVAR:2076125 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fef9992f-be79-4726-af9f-f5835247981c CLINVAR:838046 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09e4fbed-a543-45de-86a9-33be3f62f114 CLINVAR:838046 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f29d73d9-e3c7-4489-ab79-3dd7cc416013 CLINVAR:1713291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3c8ddd1-13d9-4617-8c9d-9328892bbb60 CLINVAR:1713291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 823426d7-3804-4a93-a893-c006cb894fb6 CLINVAR:532652 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 84ff05ee-11fb-4710-898f-9ae0b0fd4268 CLINVAR:532652 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 49296513-6eec-47db-8ef6-08b2813c25d8 CLINVAR:1711954 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5950210-146c-41e4-8256-91a7820dddf0 CLINVAR:1711954 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14ef8c2e-8f8a-4782-8841-c75170514b76 CLINVAR:2183638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ab7d70b-cc03-4db4-9402-ac8b140c0388 CLINVAR:2183638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f190192b-fcb6-4669-a206-20a4ececb970 CLINVAR:939981 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79cb7f40-9f55-41ff-aa48-8351f201600c CLINVAR:939981 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf6b6d10-a7b3-4aab-9b60-4f12f7094a41 CLINVAR:1716418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44df4b69-0417-4d88-88b3-16298d123b72 CLINVAR:1716418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a7dcc2-5015-4e9a-9ec8-ed149ec268f2 CLINVAR:953427 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f8da93e-fc18-4bc7-8c6e-a9dfdc275497 CLINVAR:953427 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4cf68d9b-220b-4cb3-ae05-474f24ea330e CLINVAR:651472 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8728839-041c-447a-bfb0-0275dad1267b CLINVAR:651472 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb1ac55d-dbce-4e31-a897-1fc9d66a5aa6 CLINVAR:1055114 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 60f4dd31-64da-4810-9e50-53931b6a00b3 CLINVAR:1055114 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 779da83d-5488-4cdc-b52e-d0bb0afb9f5c CLINVAR:1951248 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 475bd199-0688-4e66-9d8f-aaac1411822c CLINVAR:1951248 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7bc630d1-3843-40a1-9d58-ec3bd20f07b4 CLINVAR:2089097 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8de0b541-a81f-4aa0-9b10-eea6c6713bfe CLINVAR:2089097 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ad1f005-8e2f-4217-9204-6840f9fd2d92 CLINVAR:436612 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf0edff2-650f-4257-a5f5-58ddbe68ce7e CLINVAR:436612 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7de171ed-ce55-4aab-be59-803fe74f738e CLINVAR:1521966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 874f7e0d-a253-40ee-9588-76ce2cbee61a CLINVAR:1521966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6231b99d-7fa1-4ee2-8d70-9431084c6d23 CLINVAR:663526 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 293c9131-9b8f-47ad-ad44-e78f7f2d97d2 CLINVAR:663526 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 507abfc7-ef03-449f-8d6c-729e78599626 CLINVAR:665375 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f02963fd-a83c-40b6-a1f3-b5d1974f2788 CLINVAR:665375 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97269fe3-35f7-4e3c-bd65-3d1e9e299b7f CLINVAR:1475629 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1bd6b4f-8402-40ac-955e-aed806e2c181 CLINVAR:1475629 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8736418f-4cda-44fb-8787-0a2531fb4d12 CLINVAR:30003 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02bd3023-9a02-43ba-b6e2-792788730dc5 CLINVAR:36365 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7dcf25f4-b1ae-439a-9c27-b175f7a30af8 CLINVAR:36365 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a930366-f771-483c-afd1-044c9b9dc3c4 CLINVAR:827573 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 927a9947-1f38-4e75-b6ec-5bc00a0d9da4 CLINVAR:827573 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c534cf8-e5b3-4f3e-9b9f-517e872e3202 CLINVAR:8757 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12705851-7af2-4224-8894-c8baa6797694 CLINVAR:8757 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac1eef75-4a03-4b99-b7db-0efcd3318ffb CLINVAR:1517590 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4af25e5b-e1dd-4a50-a2ad-249450a97ac0 CLINVAR:1517590 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9e962ae-5692-4a44-9fa2-2fecfc439745 CLINVAR:827574 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb36e6a9-d73c-4f3e-b7b2-4912c36eb150 CLINVAR:827574 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23eafd60-225b-47ac-b448-80f63da108d0 CLINVAR:869415 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a1a0231a-0589-4128-b141-187b038550bb CLINVAR:869415 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16ef983f-1547-4922-9956-6fa1120e847e CLINVAR:852208 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8419f042-075d-4ba9-be0c-d7ac2a4dfb22 CLINVAR:852208 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb670f6f-da56-45c4-8a72-2fcbed6c634b CLINVAR:644342 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 838ac32d-cb3c-466c-b562-97b0e05b3897 CLINVAR:644342 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70860886-71fa-461e-a20f-1248986ce21c CLINVAR:827572 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42580762-6d09-4e74-9a98-6e280329045f CLINVAR:827572 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c79341dc-0536-41f4-8dc0-dc5b0a8e5349 CLINVAR:656631 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ca0d27aa-192d-4d5c-a2b8-486be9b6ed93 CLINVAR:656631 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6db0595-79b6-4683-ad04-8100372f1f0b CLINVAR:1610976 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe45cd45-9f70-4ae7-bd9f-36a5f85b57fd CLINVAR:1610976 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 657781ad-4e7a-42d8-a281-a47faf5e6aba CLINVAR:392379 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 095f321d-86ed-4df6-bf00-f4a9ebc7858a CLINVAR:392379 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81d1d2f3-4c4b-41cc-9a9c-387ec35fd80a CLINVAR:422945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f72d157b-eea4-4a59-b77b-53ff6ff4b295 CLINVAR:422945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20e91ffa-8f9b-4843-8fcb-c26391b08e75 CLINVAR:858136 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f771ee6-f2b5-4dd7-a778-a1e0449f2d3d CLINVAR:858136 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f529d744-541c-489b-a6c3-3a20aca41163 CLINVAR:423100 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29b52b8a-0d1c-41ab-a7cb-a5319f4b5bfc CLINVAR:423100 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 334b08cf-0512-45b4-8f4f-1c7e4075ae76 CLINVAR:536427 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac983963-0e6e-493e-be29-43abb3ecc1df CLINVAR:536427 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da249c7-1d30-4774-9bb4-467d3f58a771 CLINVAR:1199408 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7936e8b3-0e50-4b99-b575-15c341839cbd CLINVAR:1199408 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88d7132b-248c-467d-bfaf-150180131698 CLINVAR:418218 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42a88871-4197-4b61-8131-7804f12568fe CLINVAR:418218 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb71723-2aa2-4099-b0b9-fff82407db3f CLINVAR:2108802 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 12d3dc08-40c7-4bbb-a4b2-10eaa6bf52e4 CLINVAR:2108802 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d1ec95e-de53-47ab-b367-360497da6d31 CLINVAR:660886 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 02aedf8f-3701-44fa-a0a6-67483436821a CLINVAR:660886 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4dc2885b-1917-43a4-a7b9-da392c738541 CLINVAR:665887 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b3f13c4d-6806-4d82-ba09-7d759835e52b CLINVAR:665887 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 498cb407-4b0c-41e1-8a0f-2992a1ef9505 CLINVAR:827578 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f774c19b-f520-4f11-92c4-47339b152771 CLINVAR:827578 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 289f56ef-43b8-4f22-97ab-2e58472e75cf CLINVAR:626107 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f746057-c3e7-4de6-a84b-0067653ada5b CLINVAR:626107 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca82b957-b475-4e03-a75b-d6a0d1d943ce CLINVAR:1048525 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 67bba96e-86ad-4944-97e2-37666a969547 CLINVAR:1048525 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4c432980-6ebc-4bc9-9fd5-d7bcbfe7f81b CA398323709 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 322f6341-7511-41f2-b815-2eddbf17a1d6 CA398323709 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e43e901-3af1-49d7-98ed-2195edc39e78 CA2497028945 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5793c38e-5994-47dc-874c-5ce47530a3cd CA2497028945 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16ec35cc-642c-4124-a314-40e723412b7f CLINVAR:2726823 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebff9388-2b0d-47ce-8b50-e20475060a6d CLINVAR:2726823 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13afa7e5-087d-4a71-88df-e6958c04df43 CA2573320470 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fa6348f0-f1f6-4082-957e-c141aca7757e CA2573320470 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ca009c1-39f8-45fd-ad5f-b716ea0e994a CA2740089966 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 34b081d2-b575-484b-acd8-43c1f262e1dc CA2740089966 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2838aa87-6384-469e-9aa8-2e3cc3e1a3c3 CLINVAR:1456275 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cbc35ff9-dfe3-4044-91d1-ce5baf507143 CLINVAR:1456275 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ba47eaf-bcd9-42f8-9c17-45233960c16a CLINVAR:412056 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48d5568e-5351-47dd-8baf-448c6d73000d CLINVAR:412056 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 65094ebf-d442-4723-af5e-8dd6e8fa0e61 CLINVAR:1723516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f117f57d-b421-4428-9b67-ecfe155b5d8a CLINVAR:1723516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66415f43-c3ca-463e-b6a9-cadd1daf3a7e CLINVAR:143774 biolink:causes MONDO:0100039 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9887486c-b38c-47ce-bbef-3ae400bbcc27 CLINVAR:143774 biolink:is_sequence_variant_of HGNC:11411 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3784c312-f5ea-4130-a02c-bf2299c0ffc6 CLINVAR:162370 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb4d4fc0-bbfb-48da-b089-52d7d222ab87 CLINVAR:9609 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1060bc3a-4031-499c-9597-22b25a6ca4ec CLINVAR:2018786 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bca71ba9-9766-4cc2-9a31-ea650eb27408 CLINVAR:2018786 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28da1492-78c8-4b42-a444-96cdcae0aff1 CA386965264 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 91af611a-735f-45f2-bdc3-ec52f6a0ac4f CA386965264 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f004453e-4743-4032-88d7-db0f34da46ad CLINVAR:36801 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f065b1bc-4ea3-4194-a1b0-d8d7d12ec2aa CLINVAR:36801 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb99be17-3efc-4572-9365-b02e2ee662ff CLINVAR:562466 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen adefa66b-d90c-4582-abb9-b059e2da6ae2 CLINVAR:562466 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b41da8e-0e33-4c67-8e18-b3160adc57f7 CA386972269 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9ef3632a-fa5f-474b-bb6f-720b7e926223 CA386972269 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20a87403-ba18-411d-9c1b-60d30cf75216 CA386973449 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 36977310-9551-4ca8-8b74-9549b271b9a8 CA386973449 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b458b370-5dc0-47c7-8027-79b2f05ee009 CA386973446 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6028962d-3f53-49e1-b654-7525923b4151 CA386973446 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 517944de-8fb2-420d-812f-730530f42716 CA386972734 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1dc8e832-bc18-49bb-82be-098411722a61 CA386972734 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d637a10-a27c-43b9-b86a-46c81ef7c48e CLINVAR:14932 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19b65381-4489-415b-8a56-4a9a5d40c778 CLINVAR:14932 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 510889c5-1242-4c84-ac9f-ea3b7c352b66 CA2573051047 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff6ddf32-8b0a-46e0-8502-40797b16c4c0 CA2573051047 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9354bea-a0ec-411d-98a7-4a15e50c8a7b CA367402230 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 553385b9-0cc3-4ba2-91a5-58a8e2887e60 CA367402230 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab53ce91-0453-471f-acad-60aafd818640 CLINVAR:1438546 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 45404166-653f-43ec-a9dc-3c17421b6a85 CLINVAR:1438546 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70874762-b86d-4ea1-b4fd-0d77385677f4 CLINVAR:1338044 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 712f8e1a-1772-4df9-a9c4-1afe5f411dac CLINVAR:1338044 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3ef939e-c3ad-4ef5-b14d-178b1174b197 CLINVAR:409824 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8cb6285f-c193-424e-9af0-b7261be7bc2a CLINVAR:409824 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 397132eb-4315-4790-a6d8-4ef3406a4c74 CLINVAR:934175 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fb1a140e-a469-4c1c-ba2c-865cd1d4028c CLINVAR:934175 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e600fd6-0f6f-4c0c-bee8-dce9793c192d CLINVAR:1323540 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ff5d2a43-d5a5-4000-bb3f-f56f5e2f77e8 CLINVAR:1323540 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d4106089-d131-40c1-bdbd-b5933879cbc4 CLINVAR:1338557 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b511fb82-8a6d-4f78-b3cc-27c95a475b24 CLINVAR:1338557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae0a29c4-df66-496f-a5ce-0f618942496a CLINVAR:640778 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 71e57126-cf99-4029-8a43-92d4fff2866c CLINVAR:640778 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87d40c8e-2a70-4114-9519-236d7ee824e8 CLINVAR:409819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9eb81c37-ea11-4498-be15-10720c96fa50 CLINVAR:409819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0bd8223-4ba1-46b8-ab6e-187c462202ab CLINVAR:1052786 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56206ac6-4f2f-4b6a-86e0-b12a6cd168bc CLINVAR:1052786 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2b3783b-b7e0-4b99-b4d1-07bb94c303ca CLINVAR:858848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d56f9ab8-ad58-4f41-845b-780743f64793 CLINVAR:858848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afb61cb9-ed4f-4716-9a6d-5df837685c5d CLINVAR:2002610 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 360495ac-cfe1-4410-88cc-7de370ae95c5 CLINVAR:2002610 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b173d5cb-7a81-4c92-8256-352fac29f98a CLINVAR:2126320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1685f08-dacc-4ef5-aa33-3cdcb3ba7507 CLINVAR:2126320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dacb3d17-0e6b-4063-b27a-f8f7b629e0ed CLINVAR:1718102 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68255649-a452-4fef-9bc2-3e98fae6a4d9 CLINVAR:1718102 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eb7fb3d-8ea0-4e55-a3e5-6ffd0bce585e CLINVAR:960066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14ea563d-83f4-4614-ba2f-97cc8ebfa0fc CLINVAR:960066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 006ffa5d-f4e2-491f-a93f-1d36f6fa559e CLINVAR:2062797 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a8e2c6d-9028-47b8-a8a0-719a74785133 CLINVAR:2062797 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2533abd5-69c7-42f1-90b9-90ef0d0f9009 CLINVAR:1003215 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e6e37c8f-00b3-4aac-892e-ca86b066faf9 CLINVAR:1003215 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97d5a63a-8114-4aa7-8634-2e737f350c91 CLINVAR:2116304 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b797cac2-5857-4a42-bd93-94880cde7fe1 CLINVAR:2116304 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f7cc024-eeb9-4e8e-bce4-e9ac735290b5 CLINVAR:1972477 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01bd61d1-400c-45df-af46-4a492e07c2f3 CLINVAR:1972477 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eac51405-3d4d-4e2d-b01d-fe45977d2609 CLINVAR:1471430 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2745de9-45d2-460d-9607-a2ccd026d559 CLINVAR:1471430 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7215eae-0db4-4e6b-8e15-c0f8f54dcb98 CLINVAR:1067421 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6dc79de-6b70-476b-a186-2da77dc64993 CLINVAR:1067421 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09b7d273-db34-467c-9f61-539347d5b56a CLINVAR:409806 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85d010c6-c200-4e9f-a8c0-26d6784d6a5c CLINVAR:409806 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d0ad4eb-7a55-4bf8-9e5e-a307ef05a076 CLINVAR:1999266 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 37de757d-5c0d-49dc-9bf8-ff0db91e036a CLINVAR:1999266 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5fbaee82-3f1b-41a2-a8c7-1c5e446513ac CLINVAR:1040855 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f9d633c0-38d0-4547-8571-80df7f6f3af1 CLINVAR:1040855 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20f9f864-8bc1-49e2-b93d-30de1304b87b CLINVAR:649413 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6c7ad60-1714-4b9d-82dc-046e97991d04 CLINVAR:649413 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c18dc26b-883c-4377-bde9-976d6a697831 CLINVAR:2011243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c981e9f-3be2-4a04-8424-600362d73dd9 CLINVAR:2011243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 795fb0bd-24a6-4690-a203-3eda5f351200 CLINVAR:1937674 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6ffeaf85-eb9a-4819-bf29-352d8de5574a CLINVAR:1937674 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a74c41e1-f279-4c36-a120-07b7c708f633 CLINVAR:2008544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba2ee801-2176-483f-b0c7-d789b4c99959 CLINVAR:2008544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3dbe4a0-2bc5-4b19-a22a-579440b5179b CLINVAR:579883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4e9d59e2-924d-42ac-a53b-56e19c531447 CLINVAR:579883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea1e41b-4878-437d-9b81-9a5e3287df66 CLINVAR:2029145 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bfbb38e7-9bfc-450b-afc7-1508686cde8a CLINVAR:2029145 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d171297c-09d6-4780-805c-596bec84354c CLINVAR:2029256 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a8255873-e960-493a-9c00-51a0f5fc867a CLINVAR:2029256 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8dfee81-341d-4d6f-988d-b71108c80554 CA410202496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a604d46b-8fe3-4480-b6ff-348e3c46fe79 CA410202496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38ad5f53-ef80-4cad-bb4b-be8a714e8462 CLINVAR:854130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd834c2b-45ee-44f7-91a8-d3a330133a23 CLINVAR:854130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c09eb744-3f2b-44d2-9b09-b3888e409d6d CLINVAR:1381966 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7af10049-f741-4e6b-9e4b-d91d1d6a7476 CLINVAR:1381966 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 23e3fa96-c19c-4592-810a-e2aa534df843 CLINVAR:532653 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a4ad24e-2f84-4d8c-9e47-84b5da7dea82 CLINVAR:532653 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9179e745-a97a-4af6-8b03-ea18e178c2cc CLINVAR:1130279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b492f7b4-6c5f-4e75-804c-c62d65861d92 CLINVAR:1130279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7323124-00c2-49fd-97d6-90d84d197837 CLINVAR:464007 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e5f4570-1489-4ec6-a1d4-8322f1932a7e CLINVAR:464007 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ec41061-ec20-40e8-a2b6-b014cb15731e CLINVAR:581130 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e51e4b3f-6a5c-473e-ae58-694cdce73452 CLINVAR:581130 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edbf4728-d75a-4946-86fe-f500439e1733 CLINVAR:661459 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 74e9128c-8884-42e9-80c1-ae2f333a905a CLINVAR:661459 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e071486-1b7e-4435-b2e4-1cc3e1e65e04 CLINVAR:262915 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 010f0fd6-a3f3-442c-ac96-c8d36f8d57c5 CLINVAR:262915 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a88875b2-476e-4655-9984-28b6ac3ad6cc CLINVAR:424599 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6d5e3769-7c81-4634-bb77-37331e0ed922 CLINVAR:424599 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be5a5d10-4cdf-4274-88b5-fd3772716f2e CLINVAR:987830 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7a7e8803-a8b4-464e-9267-a3e628c88141 CLINVAR:987830 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ac4e929-5edf-49fe-983e-b6f590a6247f CA414914390 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c5c1d29e-a0db-4a17-b4f2-ce7a2869cb95 CA414914390 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 070aafd0-39de-4c40-9388-b1c11d95b4fd CLINVAR:10606 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fcb75a56-500c-4274-91ba-801bc3fd9fd9 CLINVAR:10606 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 418e7ed6-48d2-41e8-952b-d307f101c8fc CLINVAR:376647 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 295d2315-d3f5-4211-83b5-7e90b9526442 CLINVAR:376647 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fed33052-b323-498c-82ca-ecbe6b02a14c CLINVAR:9558 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a39c2b78-0b3a-4dd6-bed0-35485c8cb5b1 CLINVAR:30002 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70d959b9-7494-4f7f-8a4a-d599514244dc CLINVAR:9598 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4f2cdbd7-23e2-43c1-89e8-30841c6664c9 CLINVAR:870573 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ebf18754-1a78-48b6-8ca8-fd920a88c1c0 CLINVAR:9575 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 727335e7-65df-4799-b11c-055098f6d81d CLINVAR:690090 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81177fe4-94a0-48da-910c-158dab77aa5d CLINVAR:9611 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aaa2d37a-6644-4a68-b488-c97962a25099 CLINVAR:289 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d86bd876-53ea-4cbc-97b1-4e2a9c068b07 CLINVAR:289 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ccfe3cc2-0989-49a4-824e-3fe4b8695082 CLINVAR:309 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 456bba9b-1e51-4a32-8167-4b6582da1b47 CLINVAR:309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ba6cb48-7267-4173-8fed-81d41762cbac CLINVAR:31009 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3caf17b0-23e2-4036-a25d-518088582fd4 CLINVAR:31009 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b1a5744-9851-4624-9046-085eaf34a65c CLINVAR:100503 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6fcc1e54-acd7-4a21-832f-94e32a87bf8d CLINVAR:100503 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e885b4f1-7c66-42e4-bca8-f6fb16ca6ec8 CLINVAR:302 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a81d5d2-3a6f-46d3-9d49-c02485ac9de6 CLINVAR:302 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a91e9d0-e4d8-48f3-8d62-50bad24ab245 CLINVAR:295 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf7ec1ee-1fe0-4960-9337-72c5ca53989b CLINVAR:295 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 181f3a71-7dc7-4f1b-be99-c3bb53931143 CLINVAR:296 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a9d777a8-103e-45dd-b83e-7e5a1907fef2 CLINVAR:296 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c8e34141-fc91-4b18-98a6-7a02701c25a8 CLINVAR:100220 biolink:genetically_associated_with MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 16768ff9-eab8-4c35-9b1d-c4dcb6e4bef8 CLINVAR:100220 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcb4133c-56a3-44ef-9f3c-d6abb7632143 CLINVAR:209173 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen abd89b89-49e2-4c2f-9d8a-208099b9eefd CLINVAR:1703401 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1c1b6dc-a75a-43e9-94a4-2565b351a361 CLINVAR:1703401 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 29326cba-4e89-461c-a4d7-48ea146cc661 CLINVAR:288 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bf5598c8-3c4f-4db5-9c4d-cfe490a040ec CLINVAR:288 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 483403e2-9fb6-4dac-9a43-abf6ac928c5e CLINVAR:9690 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bd0371d2-000c-483f-be08-39eec4eba0e5 CLINVAR:290 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 68387f9b-2812-4d42-9123-21c1c54389a9 CLINVAR:290 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f54a76a4-4eee-41b2-aea2-76b817b3ea8e CLINVAR:374080 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7fa25b8-a818-421e-abff-7b1d59cfcc2d CLINVAR:285 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9b872311-e38a-4919-8f71-e0d694f92189 CLINVAR:285 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9764faa-cc46-4bf7-a2f8-64d5eb6a20ed CLINVAR:100306 biolink:associated_with_increased_likelihood_of MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae11da5b-1f7a-47d2-8177-9a0ae3b971ff CLINVAR:100306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e7287c1-ee36-484d-bbdc-146241d74091 CLINVAR:100311 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a87360b-70d5-4633-987b-f47a3398d4a6 CLINVAR:100311 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aef8969f-0e09-4533-9302-970f1e8b190c CLINVAR:1003438 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0eb82861-e331-445d-9bd6-b5821e7858cd CLINVAR:1003438 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35813093-0d87-495a-982b-13cb7e6b9107 CLINVAR:1004688 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3370bc8d-ff40-4a8d-b45f-fe084dddb583 CLINVAR:1004688 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1933816-de85-4671-a7a0-2724dcebf67e CLINVAR:1046092 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5ba6777-91ed-4026-a984-65ba0ce416bb CLINVAR:1046092 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3505e8c5-d79a-4c67-98ba-c1ae7e20dd38 CLINVAR:1036141 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d24349eb-6908-48ae-9c72-8b1811977405 CLINVAR:1036141 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75ea9c7b-49e5-48eb-96a7-4aaf0a688e54 CLINVAR:837191 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 379cf94e-5024-4eb4-86fb-b901a81ed32e CLINVAR:837191 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 314be586-71aa-4aa4-a4dc-3074be4da810 CLINVAR:409805 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 377429cd-7775-4ab0-9805-e87655923c6b CLINVAR:409805 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 888de61a-5d8b-43bc-a8ee-8bf243c3033e CLINVAR:1338110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3be54376-6e27-4b53-9c3f-3ef31f238c76 CLINVAR:1338110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 17fef89d-5a91-46e8-82b7-1e58c14bd7c7 CLINVAR:1338109 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18b15cf6-acd0-40a9-9f6d-2edfd1392392 CLINVAR:1338109 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cef6d74-f6a8-4c70-a184-ee3665310534 CLINVAR:934637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 733c08e7-11df-440b-a208-703d6cbfe087 CLINVAR:934637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11e8361d-df54-4744-a38b-f8fd34bb1db1 CLINVAR:1114376 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2980019a-1b8b-4bd6-a5a8-110e23e7940a CLINVAR:1114376 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c4336bae-f585-4ad6-bbf6-813242333988 CLINVAR:1141521 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15fb4a35-1a5b-4184-8374-c537b640c438 CLINVAR:1141521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c975229-1704-4103-9cc4-4de49a094722 CLINVAR:1082500 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fbda44f-e0ee-48a8-ab94-278c3773dd1a CLINVAR:1082500 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4bbbf74-849d-4e9f-8553-c519691f245e CLINVAR:339848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70094dc4-7b68-4eb2-a8c1-a4fb4d8601b4 CLINVAR:339848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 673ca408-4bff-429c-b447-b8e93ef62491 CLINVAR:943347 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc0e1c8d-0852-44b8-8812-3fdc4e017d04 CLINVAR:943347 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9abd5cd-05c2-4705-a8a7-d28ae2f58371 CLINVAR:2067048 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen feb329cd-3cd5-4bc8-b34e-3802a7d3b4ad CLINVAR:2067048 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7e8887b3-2d06-4272-8251-d8915b6e14b4 CLINVAR:938322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 241b5d5b-b54e-4b06-95f1-605d72ffd416 CLINVAR:938322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34fe1c94-827e-4ffe-81a0-83a66b8120d1 CA410147693 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01ae4fab-71d7-4cea-a3c0-5acf0535deec CA410147693 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c1abb334-4ec9-4eb0-bd74-4557de269e6a CLINVAR:1035236 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1fb7b2c5-759d-4bea-b87a-fba510ebf785 CLINVAR:1035236 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 25b39583-7622-4339-8b2b-19b06502874d CLINVAR:1035156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61c7d4ee-86ca-40ec-8e9b-a23a2f40324d CLINVAR:1035156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1bdc33e-28fc-4d00-980b-f85e4246261d CLINVAR:1023243 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02f65890-a75c-4a88-bb22-8de61f079823 CLINVAR:1023243 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be340c35-9a8a-4a9e-b8a1-5a260351a792 CLINVAR:1014442 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0cea190a-b381-4889-bf1c-6912761a2fba CLINVAR:1014442 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed044c6-c0e0-46a0-95c1-bec9c7478e8d CLINVAR:1055398 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69ff20b8-641d-4367-b166-99fba1a1f511 CLINVAR:1055398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 482acc18-0c61-4a69-9be1-cd8cfe8c3e97 CLINVAR:760670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd59640a-5bb6-4524-ac97-f002feaf5ea0 CLINVAR:760670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d329c5b8-66ac-4148-8af5-8eca6c4d7633 CLINVAR:1009232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2aef39f-ee5e-4ff4-91d1-1cc41fd59827 CLINVAR:1009232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d167d32-6614-4f2f-989c-0208e0751e10 CLINVAR:579777 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 19afd93d-0cba-4653-a7c1-c13d27cf4d59 CLINVAR:579777 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e444dfe3-44f8-4050-9b52-43e3adec1959 CLINVAR:517187 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0affdd73-0870-4c4b-9a82-7bd1ada5b5cd CLINVAR:517187 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c42d7d98-6062-4c87-bfb8-2a587d4f91ff CLINVAR:1155928 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 56a99108-f77e-4f4b-86ff-50c7824e5b7b CLINVAR:1155928 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58f214af-7c39-4c9a-a641-dd64348d5fdd CLINVAR:1162089 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3af0bd96-b3db-4286-81b4-660f57f385c7 CLINVAR:1162089 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dfae6ee-b4e2-40e6-b65a-889e8d3f45f7 CLINVAR:568926 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86ecffe3-b1b8-413e-b118-08ed635ec420 CLINVAR:568926 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09420d46-30ee-4840-9d7d-1b40d7f335e5 CLINVAR:642864 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 552562a5-1db9-40fb-b530-da634ed93e5b CLINVAR:642864 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0356f90e-ee13-4699-bf2a-4d35e9ae4048 CLINVAR:1337164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6432c6dd-0350-497c-bc8e-0d1f11a778e1 CLINVAR:1337164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 814f36c7-8321-48be-bcc4-ac4bc737e2aa CA410147963 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 208c8aa1-9128-4d59-967a-df6e4c11f485 CA410147963 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0524f82d-13c1-4665-b186-3db0dfd1d4b2 CLINVAR:566052 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccaede38-f12a-4c96-9582-95a4b722e458 CLINVAR:566052 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e1310c0c-b56d-4dae-af5e-4dec71e0940a CLINVAR:532658 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cda5bdff-22aa-4ad5-a000-310c07813b28 CLINVAR:532658 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d31fb05-04ab-4eed-b8ff-fdf8127ec726 CLINVAR:409814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41e5deb8-4dea-4eb1-8a70-60c07ba17c8f CLINVAR:409814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b694547-7164-496c-aee7-564237f61c71 CLINVAR:1450492 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b9b06d9-b97a-4b92-b503-62c8eda071da CLINVAR:1450492 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 81f20056-7245-498f-b4b8-e72cdf07ba76 CLINVAR:561232 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7f17ee11-7102-4929-8251-567c14bd2979 CLINVAR:561232 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5660a663-06fe-478d-b5ea-85a8d3946dd3 CLINVAR:561247 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3a7e7ed1-3fd1-4783-953b-38f827a67982 CLINVAR:561247 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0b062d7-2ead-4d62-9969-9dc3c646cbcc CLINVAR:619750 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ba376ff0-74d5-4ff4-b25b-ae13840e266b CLINVAR:619750 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60970c82-56a3-4641-98ed-35d4eea57d2a CLINVAR:291 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a3f36ac4-168b-4645-a6c1-642fa2e7349e CLINVAR:291 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84397fb5-d4b0-474d-851c-f8ed7980a67c CA383503778 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 037812a7-8ce8-46fd-bc58-70a5ea4c9f30 CA383503778 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 316d18cc-6b0d-4e4b-b56b-152d36cb9f03 CLINVAR:619752 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0f6569b1-664d-4393-a03d-da4af65839aa CLINVAR:619752 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1a10acb-b447-40f0-acf6-4f5039d44c4a CLINVAR:100343 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cf56360e-aad0-45a5-9c78-11094528e744 CLINVAR:100343 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9187cc81-5707-4969-aea8-b0970a950918 CLINVAR:100337 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9fee5a58-a4b9-4f10-9e78-b8ecbd863dd0 CLINVAR:100337 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8eb872f8-f6e0-4cee-85b0-a67b3d8a3133 CLINVAR:293 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4809501a-61b2-44d3-98dd-f420d8a1869f CLINVAR:293 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cde9b11-d4cb-4922-8b70-17f58df7b638 CLINVAR:100356 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c6cee54e-055e-48f1-9eee-9fe2a3a47f4d CLINVAR:100356 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d88735-c417-45af-92b9-8f83fcbe2fe9 CLINVAR:284 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ff85d302-b6a9-4ef7-9a66-ac27f5b2cddf CLINVAR:284 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf3bb090-8dbd-49dc-89f3-1b447ef7dc2a CA383496428 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8346f0ab-229f-40e5-8798-83e60bbfab70 CA383496428 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4726184c-8c77-4e80-962c-accd4db17baf CA383495656 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bd5bc1b-48e5-448f-8ab3-9880fe0ccb59 CA383495656 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbac07e5-3fef-4fa6-af5b-4637a33b0202 CLINVAR:1723280 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e03f7588-76f3-409b-9a7e-16d137eb51f2 CLINVAR:1723280 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8cbc60ad-cd75-4daf-9fb0-8829c31d3417 CLINVAR:627354 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21dcf5cc-cee6-435a-8fc1-c32e054a881d CLINVAR:627354 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5a203ad-9d6a-40ca-a395-d6927da85200 CLINVAR:100450 biolink:genetically_associated_with MONDO:0019565 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1ce1efc-8b8e-430a-be11-045cdec6f515 CLINVAR:100450 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c30ca1a-6d26-464e-95c8-cbd0833a148c CLINVAR:100309 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 05a57adb-eed4-4650-a1c0-7e16b85ec6b2 CLINVAR:100309 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 709330cf-a086-4ed3-b32d-7352d4f5618f CLINVAR:306 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 948e2921-b917-4330-876f-2e88349815b2 CLINVAR:306 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e6ade031-59ab-4578-9b5a-43802cbf97b9 CLINVAR:324987 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a787d60e-3e9a-4633-b9d2-d2e54a9db2e4 CLINVAR:324987 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 497a439e-4d00-4135-8912-f03510426e0e CLINVAR:203572 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c27a8d2-e89a-48b2-a656-b7d79803c254 CLINVAR:203572 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8930df0-deac-4217-a11c-4711eaf848c9 CLINVAR:889087 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d184a4fa-03be-435e-9c4c-2e2b89a84167 CLINVAR:889087 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cf49b66-5935-40bd-8491-7c790af65fa1 CLINVAR:1684006 biolink:associated_with_increased_likelihood_of MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d59114ca-9461-4003-8c45-2019ef9d8271 CLINVAR:1684006 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72d50733-3243-409d-81cb-76a7bd4595ca CLINVAR:294 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6cd645a9-645c-48d7-85b8-ee6243b4bac1 CLINVAR:294 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6cb59248-e9c5-4138-ba6d-aa3038c15255 CLINVAR:100421 biolink:associated_with_increased_likelihood_of MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c62d848-c695-42bd-a2b1-08153d79a942 CLINVAR:100421 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2d2d6e3-761b-4e9a-934a-4bd9c5e1ae85 CLINVAR:100326 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bfa85996-9636-4a67-98fd-a2d298a9b56f CLINVAR:100326 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89cbd347-8142-44e5-bbbd-8251824d2192 CLINVAR:300 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9fc093e7-fa0d-41dc-80e7-483ba550b48f CLINVAR:300 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecbf9728-0901-4ad2-b9c1-9b8b5b410edb CLINVAR:318 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1d11e9a6-7150-4860-a9f1-e769b5a50dcc CLINVAR:318 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10d96c50-e132-4a8b-87e7-ccabb39384dd CLINVAR:100313 biolink:causes MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a461e896-f27c-4c57-9726-30cc7ef43ef4 CLINVAR:100313 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20bd9573-10ee-4ae4-9c2b-73da19677284 CLINVAR:100308 biolink:causes MONDO:0015629 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cdea2229-e145-4f17-b2d0-142e315ae859 CLINVAR:100308 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1f160279-ac24-4af3-bcb7-adb3783b2667 CLINVAR:692533 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26d28399-2407-4478-bfde-0aa55c5fe5db CLINVAR:9720 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 00d54640-d021-40fa-9d0b-8605ac71b3f7 CLINVAR:9700 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c039b252-2cf0-462b-89f9-6c2d2d0d4259 CA410146486 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dd03bec1-c85e-4803-8a18-c25227c5e4e0 CA410146486 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec8c6daf-48a6-42cb-acf6-c724e44cb6c2 CLINVAR:463980 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a797ab78-96d1-48b0-891c-06b04e26c171 CLINVAR:463980 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32333fe7-4452-413e-8ce9-f60e18be28ad CLINVAR:409823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3dc4bb6-0017-4de6-b294-f47047509c53 CLINVAR:409823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21008509-d8e5-4d1a-9b59-6a1731b0657b CLINVAR:409816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 118c3a4f-3009-431d-9bf9-f1eeaba5ed6f CLINVAR:409816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c43ec67-b9d7-489a-b74f-351eaddd0c36 CLINVAR:239053 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14dcf783-7270-473a-aa59-5ea6f4b8a773 CLINVAR:239053 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6d4c03d1-7e40-45c9-90cd-70f2bb0ef052 CLINVAR:239041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dcda9ecd-3e3c-4301-9fde-dead2346c65f CLINVAR:239041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ed42748-06e3-4f92-90a9-34e7c854a2df CLINVAR:1439732 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8dee8e1b-f403-478a-af1a-b9159decf476 CLINVAR:1439732 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9dda2bf7-9dfd-4215-b5d6-451841e3f652 CLINVAR:959039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ae84f08-7159-411b-bc2f-fe30074a91f7 CLINVAR:959039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ced67bd-ba4e-429d-8d48-af7ae0b8b82e CLINVAR:1022744 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cee78857-7f4a-4574-8a2b-0ce423ab3d9d CLINVAR:1022744 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c64b9a0-9016-4342-9fbe-420d2fe979cb CLINVAR:1466670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 646e5702-c04f-49e5-8dce-44dfc8196d93 CLINVAR:1466670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 766e60f2-eccb-4589-be26-518f4ac7904c CLINVAR:1051210 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2596170f-83c2-4939-8fa4-132b01ffb66a CLINVAR:1051210 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0efc7d53-9063-44a8-be90-c01319aef7ef CLINVAR:2166136 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 51b6ae6b-c9d2-4d2a-a91d-39c12d15829c CLINVAR:2166136 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b511d941-0fb8-4a32-989e-b3feed9b5fcc CLINVAR:1338528 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4599492-9036-4ddd-b312-f0de541743fd CLINVAR:1338528 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f4d4087b-b9fd-4fb9-9029-c54790d898b3 CA916084356 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b2baf78-6840-4949-b65d-867a7f4ca1a2 CA916084356 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 686ecc4f-2866-43ab-951d-6bb1fef6888f CLINVAR:9701 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d9f23e1-3da1-4e03-93f0-11e90ad0eb88 CA2825000789 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65598c55-4ae8-4d51-982b-3359b1886d89 CA2825000789 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a8819eb-b198-4eae-ba34-119c6c77d7cd CLINVAR:18016 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 24c82d9e-6ad4-4301-89d3-60c69a81a516 CLINVAR:18016 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5be11b4-c25c-4057-8153-a46b7a92501d CLINVAR:18003 biolink:associated_with_increased_likelihood_of MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ebad8bf9-aa92-4664-914f-6113f507c7eb CLINVAR:18003 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 56287383-08fd-4220-83fb-5d819675262a CLINVAR:18010 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ee23e45-6b64-46b2-807c-dc55f68eec39 CLINVAR:18010 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 720791e0-03b6-483e-8079-6856b5b2417b CLINVAR:633211 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8acf2d2b-afb5-4bda-abc4-2380fbb53d9d CLINVAR:633211 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dde98773-9fef-45cf-b65b-fa91b09a5ee0 CLINVAR:42402 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a8132df-4d06-4bfd-9e58-4312fbe06690 CLINVAR:42402 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 986c86d2-d39b-409f-8c03-ba77f3426f59 CLINVAR:200084 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 725c2e32-780b-4fff-a7b0-4c1895042ff2 CLINVAR:200084 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 876af3d4-e3b9-438c-a776-6f3ebb904f4a CLINVAR:547340 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 913a3500-94b2-4e5b-b201-97bdc522c005 CLINVAR:547340 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a99b7b8b-dfe6-4516-a2ec-b95ad654f352 CLINVAR:429425 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f9c8b162-856f-4225-b267-169628264467 CLINVAR:429425 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e002214-427f-478c-9bbd-2b44613cd211 CLINVAR:492830 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d8188a5-6868-4cac-bee9-37313608fd2b CLINVAR:492830 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77c8ddaf-37ad-4354-842f-e1c5e29d17d3 CLINVAR:384344 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6bf6b977-81e8-4bfc-884f-813f25e59fef CLINVAR:384344 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bda30aee-5f8d-43ef-8307-baed486fedba CLINVAR:632813 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4c1f589-fc71-41d3-96a4-dc4d0c30d1aa CLINVAR:632813 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9f3395f1-d45e-4399-88b1-e5bd4f54ddc7 CLINVAR:495644 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 158c6466-37e8-4bb8-b2ce-21fc7b76cdb7 CLINVAR:495644 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c12e4ca7-59b3-4d6f-a476-319ea79e4be6 CLINVAR:222610 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0d3e3349-3e9d-43ef-b0cf-cd314bbbde67 CLINVAR:222610 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d5759cf-02ae-435b-b1d8-37151f56af00 CLINVAR:36118 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 086d11b5-e1d4-4fab-81b7-7b9ef167fd4d CLINVAR:36118 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d008abc-4313-4a4e-b3fb-e05d088d1bbc CLINVAR:571222 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 629f21f3-6b5c-41a6-a01a-8cdeaff3ca2f CLINVAR:571222 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27b77b61-b583-4415-8f21-a2e91f6f0392 CLINVAR:423498 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen dce78b46-a7e9-4429-8507-f3c5c5bb8a92 CLINVAR:423498 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4f13b46-0355-456a-b10f-467d2ac5f6a3 CLINVAR:42436 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3ce17329-6fcd-436b-9341-b1fc44af7987 CLINVAR:42436 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96869f05-575b-4e6e-8014-2822085525c3 CLINVAR:381609 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 14ad5606-5103-4403-aabb-dc8fe70bb9d5 CLINVAR:381609 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7065e3f1-5306-45de-9888-6889cd4ef2f3 CLINVAR:16439 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 08a78134-49af-4e23-a025-897c16bbb777 CLINVAR:16439 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen da7479f5-5d15-418c-b225-d810b809a2ef CLINVAR:42443 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 54cb57e6-1a43-417e-bf63-27d9e8555a4e CLINVAR:42443 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31f3ded1-7bb5-4350-b935-fb3f07463e8b CLINVAR:547349 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dc3b975d-6577-4137-8186-2a3ebd062198 CLINVAR:547349 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 90058e6b-4090-4315-9dd1-c6f9fe3c9d27 CLINVAR:263414 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 91b895b3-1b25-4623-864f-c6017d32d134 CLINVAR:263414 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3be8c764-87ea-4d6c-a906-32de1fd8f0d2 CLINVAR:547309 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7f15eeaa-fe76-428a-adb4-5513507214f4 CLINVAR:547309 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e1b9732-858c-4679-8bd5-ef840b0b7841 CLINVAR:519760 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9b62b91-f012-41ea-b242-ebdaa098159a CLINVAR:519760 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0e9a286-b309-486e-8515-6ec199e97c2e CLINVAR:520496 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 280987e4-fd68-4302-a9a3-e5f22e08c563 CLINVAR:520496 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40ee764f-ea1c-4f5e-820f-7c5ed653ea2f CLINVAR:618119 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a40908de-6a88-43d3-9caa-d622179dacf1 CLINVAR:618119 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 978d3e46-b101-480b-9fc1-9724aa0d7530 CLINVAR:547338 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 91e58b3b-c349-402c-bf03-2d9678129e76 CLINVAR:547338 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4eb296b8-1fc4-4df4-877f-fed1c06b6940 CLINVAR:1098776 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e01845f5-13f5-4440-a80e-7de0e8c6f516 CLINVAR:1098776 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0cd711e4-cda7-4be0-be85-0b0e29fe0b46 CLINVAR:495662 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 360de986-add3-4896-842e-6e95d61aea06 CLINVAR:495662 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66109c2f-0d27-47ac-a941-f25969073376 CLINVAR:1791142 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6a28009-26b2-4e13-8484-51ff3d8639c6 CLINVAR:1791142 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a6fabc0-0f76-473b-8e18-fc6dabf3c7f9 CLINVAR:205491 biolink:causes MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen eb290339-15f5-477f-8728-d58d82d0c3b3 CLINVAR:205491 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 44cb0bfe-4554-45bd-94e1-1f3d4b16f11a CLINVAR:589694 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e7f21527-e8e0-45f1-ade3-a401e9dbd663 CLINVAR:589694 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d28ab13-acf1-45af-984e-19c93536bfc9 CLINVAR:205483 biolink:genetically_associated_with MONDO:0100040 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc55e961-98fe-4ece-8dad-16f0b9f6e31d CLINVAR:205483 biolink:is_sequence_variant_of HGNC:3811 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9a9130e-028d-4e0b-89cf-5f818df9f054 CLINVAR:427212 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bf0fb8f0-c50f-414a-9a63-46d221c1a245 CLINVAR:427212 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0437cb2-c97e-4944-b8b2-3931b5c0f128 CLINVAR:426177 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2bdbef1c-5b6a-4ad6-ace7-50e7dafd2e1a CLINVAR:426177 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac083473-dfa2-4083-8338-ecf19d335906 CLINVAR:418711 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14428267-7f3d-4c82-bb1e-e015527f9d1a CLINVAR:418711 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fb72deb-56c1-45be-beaf-0ac1e2db4d66 CLINVAR:2757098 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9bff51bc-196b-4194-b75f-6161ed9b4f9a CLINVAR:2757098 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db8828f5-1c2d-4152-94f0-212b032440dd CLINVAR:2839411 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 57ee1fff-309a-4c3c-9bcb-8560f52e53d9 CLINVAR:2839411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d9d7b57-3378-45b0-af51-63f7dbd9d00c CLINVAR:2701885 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 42ab4f0c-7a03-4bdd-9b28-b325f68d7219 CLINVAR:2701885 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed573b2-940d-4909-a6cb-67c1dca4e4a0 CLINVAR:2029556 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5cd9496e-732d-4234-9095-3dc57005e729 CLINVAR:2029556 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c19fbfcb-1e0c-4df4-8789-f3ab369bcb1d CLINVAR:2911507 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cb8b4089-be8f-4ca3-b7ea-609939846230 CLINVAR:2911507 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31c696f7-a354-44d7-9f22-0c5d4e8a1fa1 CA410148059 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4ec0929-fd87-4bc5-8037-f24defd8cf8e CA410148059 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d77a0c5-e65d-4fa7-8de6-96b137c74529 CLINVAR:1211932 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c557054c-fbf4-4f23-b919-9318ad8648b3 CLINVAR:1211932 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc425575-9e9e-410b-aa59-6d8f3787a709 CLINVAR:2840535 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2fe0ba02-9d75-4557-a081-7c9290e90e85 CLINVAR:2840535 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5096b84c-ef9f-491a-8d3b-92ab7881cb5f CLINVAR:2808406 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a37d2be6-7577-4c60-8570-fac13cde7ef6 CLINVAR:2808406 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec9fbc7e-ea3f-4979-a097-71312b38c622 CLINVAR:2857333 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4f2484e1-bc0d-4c34-9809-f59efb83b47a CLINVAR:2857333 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 757b8c45-a2bc-4f01-80d2-6495f58573b4 CLINVAR:2857331 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4d4cf71a-b23a-4911-829b-e111acc4b9dc CLINVAR:2857331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8eb703c-4024-476b-9294-aaae8b41395a CLINVAR:2746077 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 31067316-4614-4272-a29a-112733d61f58 CLINVAR:2746077 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acff5ed4-76a8-4263-8d5f-d74921ae88f1 CLINVAR:2808511 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f2a6169c-6329-4bfb-8ac8-132e606bf9ff CLINVAR:2808511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b547a3ae-60aa-4570-8fd8-beace8552573 CLINVAR:931873 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c44178cc-9317-4457-9f8a-619bb3427a61 CLINVAR:931873 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 38b39f7b-1816-4081-a67d-7b9049648c5c CLINVAR:435438 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9415f9bd-a23d-4895-9a66-cb6318fee32a CLINVAR:435438 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e14582a4-a06e-43f7-8532-981f6a8ed8f2 CLINVAR:447522 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b6bd6ea-c47c-48f6-91e5-87184e966cb0 CLINVAR:447522 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 825e1139-ccfb-4717-9060-63f284fbaef3 CLINVAR:9210 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c2c66b7e-f80d-4aa0-934b-8341f8265348 CLINVAR:9210 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d593d9b-e8b7-4874-b52a-8a2cf01e1330 CLINVAR:437910 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1928d57-b094-4dd3-aa3f-d6cb80268a06 CLINVAR:437910 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc2cf6ff-cf49-4cc6-a04b-6052e8c7f135 CA2695217482 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1872c3af-b8d0-48a9-b031-453fa29ad87c CA2695217482 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a6a1ee35-2496-4cbe-a6b4-4aa41cc287cb CA2695216034 biolink:genetically_associated_with MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d360565-ea0d-4713-a026-f7cf938327e3 CA2695216034 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dfac63c1-0f82-466d-9d7b-5770ae53ca2c CLINVAR:100231 biolink:causes MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4282987c-96ed-45d1-ac6e-4c67f7a754b5 CLINVAR:100231 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf01fda3-f2b2-485b-95c7-254abc574a31 CLINVAR:515407 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 454415c6-0c34-43a5-8ec7-cdabfa2ee7e2 CLINVAR:515407 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a13044e-73ed-4bb9-8f89-87b707a74f61 CLINVAR:507529 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e3128a6a-6a48-4b2c-bee2-c9fb2290ff3e CLINVAR:507529 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04705bae-0406-45bb-ad65-626aaa5c6994 CLINVAR:510672 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f099e48b-53bb-49ee-91bc-1529846964b6 CLINVAR:510672 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 02672d45-fbf7-4a2c-9d29-dd94145f78ae CLINVAR:193975 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ffba9bc7-38fd-47ea-b88d-0650354f53f7 CLINVAR:193975 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b55ffecb-19ca-497e-ab14-635202491c3c CLINVAR:864108 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6129810-a033-4409-a347-c16cc6d45308 CLINVAR:864108 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bd9dedf-5809-47b4-8d6a-de76e02d3da7 CLINVAR:642648 biolink:genetically_associated_with MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82f9c323-da86-4f5d-b7ff-ced736ca18fc CLINVAR:642648 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen addd1440-771e-4695-8b2e-73caf5af26db CLINVAR:182963 biolink:associated_with_increased_likelihood_of MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ac467c7-451b-4bb2-a279-6102b3dae9fd CLINVAR:182963 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12f255a4-1eb2-4a22-a621-c5401b9628b0 CLINVAR:12374 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1fd38f8f-40f0-4320-a96d-23807445f551 CLINVAR:12374 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ebac5b3e-060f-4a96-a44c-91ffd9823675 CLINVAR:376649 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b6f429ca-ab5e-4b4f-bae8-a9d3fa9d9c8e CLINVAR:376649 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67584f61-bb29-4d26-8575-b222c2dcdea0 CLINVAR:215996 biolink:causes MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 095c2b48-ba3b-4f6c-b429-cbb8737627f5 CLINVAR:215996 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d513a4d8-b7dd-44a5-a9fa-73e00c4ed621 CLINVAR:12371 biolink:genetically_associated_with MONDO:0018875 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 221edbb7-1b4a-4381-b5a9-c8bcf066d388 CLINVAR:12371 biolink:is_sequence_variant_of HGNC:11998 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b6be91c-8975-4ec7-a04a-c7f82cc1b88b CLINVAR:102645 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 69fa1ed8-9745-4ce8-96c4-21ae2143cd1a CLINVAR:102645 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1d6452c3-384c-4d79-b473-60c47f6dacae CLINVAR:102728 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0118ec1c-abc3-48a1-bfb3-1c0ad7370b36 CLINVAR:102728 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55812f64-947d-4782-b637-b5a1bac8b45a CLINVAR:102575 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b5da401a-1fd2-447a-a012-e32a1b0b2820 CLINVAR:102575 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fa75ed12-4308-4c7a-b746-1cd3ebcb01ae CLINVAR:102895 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 79a35417-341b-46ab-b544-bb0a174424c4 CLINVAR:102895 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f96f9fa5-1d11-49d1-9e75-221046d8444d CA16020839 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f84d13ff-0d1b-4442-bce7-83c232e41bc3 CA16020839 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa0006bc-a05b-4812-81ab-346e7707b1ba CA16020814 biolink:causes MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 61fc3a87-dbf0-4b1f-9f49-0664d3e04349 CA16020814 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f82f3eae-de82-4fef-8469-64c2f6b0bf43 CA16020783 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen dae64743-f812-4bae-9aef-4ddb7e4eacb2 CA16020783 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f20ed11a-6fdc-4972-a2fe-a7a8ab9282a4 CLINVAR:252114 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4403ff34-cbaa-4cff-980d-0eb67587916f CLINVAR:252114 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8dd028c-ae8c-4ae5-93f0-7c745a2ec92e CA1139655403 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78d604fa-7818-447f-9871-4defca998e2d CA1139655403 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 60b93db7-b52b-4f04-91d0-c5f57d875159 CA386965322 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 052ec53e-10a7-41c8-a966-0405c6e38317 CA386965322 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca330a61-b731-449f-94c4-7dcc87841380 CA386958847 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d3e5dc4-3db0-4056-8412-1ae0a09636d2 CA386958847 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a889ab92-7fba-4186-ba0c-a2398be1bf29 CA2837589098 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 8e4f700b-722f-4595-a568-d3d5acdef1dc CA2837589098 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f551a42f-fc1a-4ac1-837d-f63066c4fb07 CLINVAR:972751 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 99287e49-0c9d-4b56-b3d1-b189b8aa52e9 CLINVAR:972751 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89ee8e62-73dc-4735-a225-9e98e04736fb CLINVAR:2746579 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e83388d7-9008-47d8-9569-fe7cd3eb910d CLINVAR:2746579 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 57696a49-74de-4cd1-9e00-135908ebe47a CLINVAR:1398400 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53f184fb-55fe-4291-baf3-5587fadda132 CLINVAR:1398400 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8e3be69c-24d5-41e2-b206-5039f2d25f1c CA409106119 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e32d7728-915d-489a-bef7-4cb4031a0dee CA409106119 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04c66604-bc07-4959-959e-98d43bf72453 CLINVAR:586009 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 035a727c-061e-4e90-a82a-16f4692c6b9e CLINVAR:586009 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ff547b0b-bc2a-4797-9ad5-80d08f58fb0e CLINVAR:977222 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6573120a-320a-4288-bd3c-eadfa64009a9 CLINVAR:977222 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 10f604d0-6e2a-46b5-b504-89aae30ccc72 CA1139655404 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 75921b7e-2d51-4a3d-9df9-1205dbef98a4 CA1139655404 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5bc4377c-41af-46cd-a23c-bb85a8409c86 CLINVAR:425733 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 13b62050-7da1-4d4a-b0ff-2b150eff896f CLINVAR:425733 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aeb01012-60d0-4f32-94ba-ab20e38642e2 CLINVAR:425842 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bf5888af-5371-4a8d-9b7d-54038901fbf9 CLINVAR:425842 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1531167a-b57b-462c-a059-9f517efe04fa CLINVAR:425844 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea32ad99-91f6-4902-a86a-98554c16b187 CLINVAR:425844 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6334a204-b4fa-4fd5-bb9c-17435b9c6cbd CLINVAR:2854758 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5d21ab2d-604a-48f9-8e4d-6f8475798afd CLINVAR:2854758 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bebb590-be27-4f13-8b14-3ad7f5f359ad CLINVAR:2635335 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6ec9ca0c-2d09-41c4-afd8-f3bd85f2e097 CLINVAR:2635335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 942de7a2-b782-4c7c-8379-de4c5e7d690e CLINVAR:2820865 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e1b5ef9a-09cc-4f89-b79d-059d2824eff6 CLINVAR:2820865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9ad0494-b4e8-4c8c-8a98-20b1897b9f7d CLINVAR:2759299 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5cd2a0d4-6f1a-4de1-9536-20540f3e780a CLINVAR:2759299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 762b7df9-a616-48f4-874b-811ca0e67041 CLINVAR:2705087 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0dbfb153-e68a-4d7d-89e0-e2e9f0f831e8 CLINVAR:2705087 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8fc13fba-d940-4b4c-9982-78eb95b4feed CLINVAR:2101398 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2d251829-8a94-4897-9ac7-68c7725e2406 CLINVAR:2101398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47bd76e7-e456-47c1-9d55-ecb4a6c4b214 CLINVAR:2106464 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7543a2bf-61c3-463e-98a9-26f95a8a3975 CLINVAR:2106464 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e4863a7-5920-4f9e-99da-fcd40bf6a3d8 CLINVAR:2579542 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 5ad8fc07-5d52-4920-a934-1b19e5ae9557 CLINVAR:2579542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b36c76f-5554-4247-9ed1-227463cb8e93 CLINVAR:2028205 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0fc9019f-6698-4169-9e8b-c8a4863bfc4f CLINVAR:2028205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen edd33cca-493e-4bbd-b9bd-6cc9ba9695aa CLINVAR:2008798 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 435def3d-8adc-498b-aae7-33d09ca84733 CLINVAR:2008798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eae85730-8434-4bd3-9f90-d70b201de907 CLINVAR:1684398 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fda02830-3149-4a16-b411-8346e328755a CLINVAR:1684398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 32b99898-1e78-47c3-9272-778a3faa2627 CLINVAR:1460663 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4815b157-642e-4aca-bbb6-e4a7fc34aef7 CLINVAR:1460663 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bfa8ac4-a16c-4abc-ae14-cefe8ab767d5 CLINVAR:1338564 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 525462a3-ebff-4011-baeb-b9aee9752a19 CLINVAR:1338564 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 426db6e8-f945-44c0-839a-6cc99955fcab CLINVAR:1041897 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81840300-d961-4fe9-94ae-421dc62589b3 CLINVAR:1041897 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8f595e0-7116-4262-a207-16763334eaca CLINVAR:1045299 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cac4d586-10c4-4528-9e9f-152e0bb07721 CLINVAR:1045299 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1cc38f11-b43d-4a6f-90bd-9e4664109322 CA410207977 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 76d89604-a123-40eb-a2c2-7deba9271db8 CA410207977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93d92f68-b0c1-415b-9070-818dac59e138 CLINVAR:2092471 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 52fc992b-d5f9-4067-bf84-249fdad1e442 CLINVAR:2092471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87f38848-5999-4b8c-b421-9a1a28775a9f CLINVAR:252115 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 112f8a61-92c7-47bc-85a7-74729d907650 CLINVAR:252115 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b59005b7-1d08-401c-8623-03bfe4f17ae2 CLINVAR:205591 biolink:associated_with_increased_likelihood_of MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c0364eac-a455-469b-b049-41948dd2ab64 CLINVAR:205591 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a05c3313-4236-4431-bcd5-7d7b90b16b53 CLINVAR:2137773 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfa5f030-dae5-49ff-bf1d-2c0aa4dbf193 CLINVAR:2137773 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8977c9bc-9e0e-4891-bd06-c29a09169a06 CLINVAR:205582 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 826de6d9-b587-4cfc-aa79-6c2efe3ad150 CLINVAR:205582 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 77aa06bf-7587-4296-91d3-bec4b7b5ae59 CLINVAR:2815164 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 553e3658-9f5a-4363-9fa5-4b602f10cd5c CLINVAR:2815164 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 565d00a6-0a8d-4a55-afe0-451558c94c11 CLINVAR:1142221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c83351ac-057d-4c8f-9f07-5bac7e174011 CLINVAR:1142221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c75fc798-1afe-428f-a8d9-23b1282f4091 CLINVAR:2042433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1fe9fce-4ec1-4d69-ba4a-a43fe7af3462 CLINVAR:2042433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21191a32-b37d-4b96-9f79-8454a872eefe CLINVAR:1473511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen defa5493-04e4-4bab-a64d-c8a6712443cd CLINVAR:1473511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2667be4b-aad0-404b-9c13-7b0a897e1a40 CLINVAR:1349433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8570554d-4d90-45e9-889f-248482793b60 CLINVAR:1349433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b817e5c5-65e4-4690-abb2-fadef84211bf CLINVAR:2769013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4994769f-f2f8-42a0-a66b-2439d4c70991 CLINVAR:2769013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53cf2953-185a-4e07-9df5-358a73e21fc9 CLINVAR:1967828 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a469fd5-f5db-489b-8787-efd3d0b277e8 CLINVAR:1967828 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e64d7498-3869-45d6-aad3-760ecebaeeeb CLINVAR:2958710 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d02151ee-742f-493c-af05-4713ff01df06 CLINVAR:2958710 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba740f9a-6a60-4214-a45d-12f547200aa6 CLINVAR:2912699 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59be5830-91ff-40a5-8f35-11e382e1456a CLINVAR:2912699 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3d4a8ac-bb4f-4c79-baa5-14e522425e9b CLINVAR:2825312 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2664d7c-ac1a-4b40-a2be-69fe9eb17197 CLINVAR:2825312 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 667aa923-9795-4498-a534-589d8b9b2a1c CLINVAR:2763182 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1e9898a-6744-418b-9924-0de9cf3bd71a CLINVAR:2763182 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab1a6717-b62e-41ab-9f9c-53acc47a603b CLINVAR:2807004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b61c88b6-b325-4e29-af93-7e953d9ac802 CLINVAR:2807004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdaffade-057d-4a22-896d-79be87e88555 CLINVAR:2737781 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17db7d1c-1cd3-4b40-b307-136af087f7d2 CLINVAR:2737781 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6b7322e5-e63d-4542-bbc8-5420f0c1c39f CLINVAR:2737296 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 129c7c8c-928f-4bf8-b0ba-4a3e635c5f5a CLINVAR:2737296 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1b788a6-8e6c-4b72-b509-3430076c1f55 CLINVAR:2917126 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01a519f9-1f0e-42ef-8762-690331c0a095 CLINVAR:2917126 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70518b5f-0cc6-487d-b6b3-14b99c40265c CLINVAR:855888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52605e9e-2102-47e3-a2b1-fdec54c8545f CLINVAR:855888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5a16530d-bead-4fbc-a292-70e71f2b6957 CLINVAR:2695627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52977c0e-75bd-4b03-9a3c-ed0882374e6a CLINVAR:2695627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf1c2e9f-4224-406a-800d-67197022ad05 CLINVAR:1002574 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35a90e76-292a-4b74-bf1a-1eb46840b153 CLINVAR:1002574 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0aa1bd70-bdcb-4cf9-b93e-d3c423807720 CLINVAR:1487422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1bc2ec4f-1a02-4725-bb02-cc4ac3ea2edc CLINVAR:1487422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07755725-1f51-49ec-809b-5ce9be7e469b CLINVAR:1006857 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe9e4570-108c-4a70-be7b-cd63c9175a6a CLINVAR:1006857 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c987dbeb-4ebf-45a6-80f6-ce2bb6a6b392 CLINVAR:2725991 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 713a87d2-c168-452d-9012-8734fd15142f CLINVAR:2725991 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bab677a0-421a-4dd3-88c6-2fcc20093344 CLINVAR:2916977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e27491a-43de-43cc-9d18-95740db54b14 CLINVAR:2916977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d933968b-eac0-47fa-b442-2bf735ec544f CLINVAR:2823780 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5101651-1f6f-4d65-b87e-b810f339b16d CLINVAR:2823780 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8839b7f8-b7e2-43fb-9701-e880928c068c CLINVAR:1363734 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85e346d9-906f-4ab2-8c74-8b9362cede29 CLINVAR:1363734 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39539200-4720-4d70-a21f-469534bd6812 CLINVAR:3009082 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3733fe74-753a-43f9-87f2-9f1389575f13 CLINVAR:3009082 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 649cf787-f058-45a9-8b24-fdc4f7a90b07 CLINVAR:1507948 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b389566b-c902-4e20-a15f-aac7560e8022 CLINVAR:1507948 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc9318db-1a57-467f-9fec-9fa51f8330e7 CLINVAR:2734274 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81ddf2ff-c377-4843-a9f6-66d7d7ff8645 CLINVAR:2734274 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c30d538-9957-4607-b0ec-0ee3735ab30d CLINVAR:1948845 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7808017-33e9-437b-a96a-f6423b7d31f4 CLINVAR:1948845 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f6d03a0-3825-4e72-8b9d-4783cce5c0c0 CLINVAR:1470171 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29966629-8928-4010-b75a-03f3276b66e2 CLINVAR:1470171 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 730a7978-667c-4ae5-a5e0-ad242470b63c CLINVAR:2718142 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cdf18e74-2def-4316-9907-c36b1e897587 CLINVAR:2718142 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 095d74ce-b28e-4fb5-834f-3b8825553dbb CLINVAR:2630595 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cd08b320-8281-4ded-adb5-ecf68eb5eb2a CLINVAR:2630595 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 68488e60-d488-481e-bebc-9498de8c6bce CLINVAR:2972103 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4006f88-3884-4dce-acf1-c72788b53863 CLINVAR:2972103 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0dfb93ee-3b5c-4a6b-839f-90fc1a5ee64c CLINVAR:1400931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f8d42a0-15c8-4d75-bdc2-591c8b2cbfd8 CLINVAR:1400931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3fe805db-e6ac-43c7-8383-754778c2b13e CLINVAR:2850045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cc257874-ce2d-4681-8541-1a35aacf28d6 CLINVAR:2850045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c27ef6-1646-4465-9f30-bb03009e9742 CLINVAR:2716140 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cef48107-aba1-454e-96f4-3cc9328289b6 CLINVAR:2716140 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0082cff8-cbf4-40c7-968f-5169f3788266 CA2830665544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0058d66a-1755-4c44-9331-46bae2ecfe42 CA2830665544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 86de9650-81c2-43d1-a42b-a93689200326 CLINVAR:1463552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b711e09-9f6f-4961-bd9e-32fb2f753acb CLINVAR:1463552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb0b97e5-02d9-468f-b2cd-ff36e1e40cd9 CLINVAR:252173 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b2c94429-8294-4cf5-8d7c-5d7d0fdc2deb CLINVAR:252173 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61953730-2993-40fb-a3a8-e8cdb5c16024 CLINVAR:3712 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 86529e1d-2004-40eb-be91-b0f17b70415a CLINVAR:2637205 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 110e6f50-0d9d-4c78-bd97-7da01e54f2a8 CLINVAR:2637205 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 89cfb160-3c15-4de1-936c-12e58b7f68ec CLINVAR:2730931 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 560e61f4-35a1-404c-9a26-cfe848a75f1c CLINVAR:2730931 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 998d0857-72e6-483a-b1d8-e0e051549bcb CLINVAR:2764958 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen de0c1186-d8b7-4316-aa33-a2196842caad CLINVAR:2764958 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2eb1fba-3251-4579-92b6-f6dc23206499 CLINVAR:580765 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4ca4364-eeb5-4bc7-9942-90c328bfaa38 CLINVAR:580765 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96ccb286-12de-4df9-90d2-fa7639689322 CLINVAR:1057975 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c20c173-16ff-4018-a8ad-0af165e6a315 CLINVAR:1057975 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f40537-1e16-41ff-adb1-2f8ba14dadc4 CLINVAR:1438740 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 123c9551-2d42-4b3d-9e46-8dfd0cb74bac CLINVAR:1438740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd8ab785-bae7-4c17-9b00-74c342b7be5a CLINVAR:812738 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92cd9895-741d-4249-a610-e20ceadab262 CLINVAR:812738 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 157f6a63-d56d-40de-ba2a-4af7f6ed1292 CLINVAR:942577 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f980cfb4-7005-4228-a722-e3a000ccf651 CLINVAR:942577 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bdad6513-e70e-41eb-ac27-86da606a1ff0 CLINVAR:1437357 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d5e87d5-8f77-48aa-aec1-aa5ece25dc46 CLINVAR:1437357 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 67678970-c82a-419f-aeaf-0fd67e090889 CLINVAR:463999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 754d1aa5-7d16-4434-97ae-2ba05907d4c1 CLINVAR:463999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64a97517-6262-41a7-b94e-91d076ed13df CLINVAR:463977 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e841ceb-dc50-4e24-80f2-09e3274cc1db CLINVAR:463977 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e901bb98-3d7c-4dc5-979e-249a52590cda CA410207999 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 36e3f244-3a9e-4e38-bab6-0e10c445ba0e CA410207999 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d66a28a-17d5-46db-8587-d00e4549642f CLINVAR:2846862 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 158a2321-1b71-4c7d-acaa-f85399e677fe CLINVAR:2846862 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 040ee827-ca35-4019-9fe9-8bdd4f65647c CLINVAR:2719217 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 483634f7-7dab-4222-b4b0-67aeffe1c9b2 CLINVAR:2719217 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 874fb071-5de1-4e20-b21f-94f98c042add CLINVAR:897094 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 73b57903-d665-4f3b-a5cc-b31847961ed2 CLINVAR:897094 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 534bc172-53d9-41ea-9dbd-cc3ab8811559 CLINVAR:2743644 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70667971-3c5e-4f2d-9247-a4ee90040c3e CLINVAR:2743644 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0684f305-a9b0-4cb3-b997-db6f07522aef CLINVAR:2789785 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d944a6f2-9c0c-47a6-87ae-ec78bfc2d949 CLINVAR:2789785 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a9247496-0031-480c-9237-9b683d9b5e1b CLINVAR:1014373 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c768af40-a32c-4733-b01d-2fc753a03f38 CLINVAR:1014373 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1172c7b5-266f-407b-b2fc-857ccfc6efd9 CLINVAR:339798 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b53988b0-90b3-4841-ae2c-cd3f155b4adb CLINVAR:339798 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76d4a513-be41-4edc-906e-2d138aaac4a8 CLINVAR:2678494 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53c845f3-ee77-47ba-b5a3-ae768be9bd19 CLINVAR:2678494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87d410d6-e205-4a5e-87bb-d28094745d6e CLINVAR:2993180 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 48118576-cadd-4097-9146-ab6daa15828c CLINVAR:2993180 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3c7115f2-12e9-4b85-9538-0d4a3c05ed28 CLINVAR:339819 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26296b4b-939f-403e-973f-f5fddc4fca8f CLINVAR:339819 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f3d1791d-fbed-42f0-9efa-d863be39e634 CLINVAR:2769330 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 690578b9-b558-4c7b-b6e2-2d93290e85ae CLINVAR:2769330 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d1935a6-8d9d-45e8-9648-895a40f87f71 CLINVAR:2805900 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 26aec4f0-17d7-4811-9dd4-68c571c84693 CLINVAR:2805900 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 789ca217-bf7e-4e85-aaf4-1be0df5985ed CLINVAR:2696801 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 830aacc5-151e-4fb7-8d50-5157997e1a72 CLINVAR:2696801 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 55f38d08-ade4-48d1-8f61-e6e0b3c53225 CLINVAR:2826469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5dbd70bb-0a0a-4f63-a5a7-acae9526105b CLINVAR:2826469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f7b28c9-3126-4351-a27a-99b4b5486b0e CLINVAR:2839110 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen edd415eb-aeeb-4982-a9d9-8c70823c789a CLINVAR:2839110 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f216d3e2-5fb7-48f8-8ef0-c924026e392e CLINVAR:2791325 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e169769-09f6-48d5-8d91-df743d161041 CLINVAR:2791325 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec0e910b-11fa-45aa-8474-7fdce3001282 CLINVAR:3017323 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7d43862-cab0-4df2-b3f4-fe6f59b96f98 CLINVAR:3017323 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9d1198a6-ae67-420f-872b-b1cfaa3fec8e CLINVAR:2814028 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e690836-665e-4c2c-915c-9fb27c5d262d CLINVAR:2814028 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a580fa08-2df0-44f6-b923-3099c03043f1 CLINVAR:2852638 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a1f7991-8dc3-4046-a014-7fe35994b339 CLINVAR:2852638 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53eaf74d-c4b0-4e3b-93c9-7ff2989265e5 CLINVAR:2699552 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d5731422-5cfb-4778-943b-7e5ddc5e1702 CLINVAR:2699552 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea2dacb8-aa1d-4d72-b01a-62d3cf41a14f CLINVAR:2662455 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ef32f86-078e-44de-af8c-392d885d257f CLINVAR:2662455 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9deb6313-eb7d-4179-b80f-64c7dc80bd95 CLINVAR:1362194 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4855969c-a03b-4c52-9fc1-f5c5f64bab25 CLINVAR:1362194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe53e4fe-ec42-4979-9d40-b28520c20180 CLINVAR:2021813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 321f1522-1c6d-4bd0-97f5-2bde5456cdf6 CLINVAR:2021813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 452f1523-bd9b-41e9-adee-5dbc7547813e CLINVAR:1388634 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1cde206-a5aa-4819-8d42-36f6854f24e7 CLINVAR:1388634 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a9c57e6-2143-458a-b6a5-a837e7bf3987 CA2830665545 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5aa844cf-9c69-4af3-8142-0175449434b4 CA2830665545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 161436db-157c-4178-b708-0f1518a58411 CLINVAR:2146436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 602e8c71-ac2b-4c09-a23f-5f9d11b6169d CLINVAR:2146436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bf8072a-d9c2-4849-81be-e1f13c8eced3 CLINVAR:3241647 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b51638d5-de38-4d70-961a-c433067c2056 CLINVAR:3241647 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ce4131-9431-4611-9e76-b79e184c8b0b CLINVAR:180142 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f51bd07c-9cf8-48cc-9372-da294d53deb0 CLINVAR:180142 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f2dc1396-ab62-4a06-a57d-0c462621bbdf CA409104130 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7fc82968-d773-460f-aabe-c9176024179e CA409104130 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9709376b-9fb0-445b-b44e-3a4330a5160c CLINVAR:586023 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 6c34ceb6-9622-4522-8bc9-5b6221feb89a CLINVAR:586023 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c5ccf9df-78d2-485e-a1f4-7baa787e4863 CLINVAR:660789 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 61385b18-e580-431a-b058-101e230c8379 CLINVAR:660789 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d6bc600-6629-4003-b372-ddbda0cc80ff CA1139655402 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ce44de01-59f4-4cca-a7f4-88adb94cba6e CA1139655402 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bec8e3d-c378-42df-bb08-e580a10db68c CLINVAR:950322 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e53c0ad9-3335-4b79-a282-f1dd1bf59b28 CLINVAR:950322 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fdd24bca-9c69-4f49-9c00-040a76aca57f CLINVAR:639328 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f286d1d3-b1d7-4520-9d49-b6ac35b2513d CLINVAR:639328 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb3e7b87-e73c-4c2f-ae05-cf36907de7fd CLINVAR:1315930 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5374eca7-28cc-4d71-a0de-2d804ccde5dc CLINVAR:1315930 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8d9e5121-179e-4cd9-864d-d39a8af5f753 CLINVAR:1973721 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8847c502-b373-4bcd-9b42-83dcb77a6379 CLINVAR:1973721 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e7c73796-5521-482f-8dfb-8db59fc5f80f CLINVAR:1684386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ea577847-3876-48f2-8385-40974842db77 CLINVAR:1684386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2c484e13-0039-4271-a521-4d25f8c415f9 CLINVAR:1064169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6c97187-c154-4d06-82b1-038cccdc23cb CLINVAR:1064169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 721dd6f7-13b7-4561-a892-b0760155819b CLINVAR:854013 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2da2cd3c-275c-4c5a-be50-130e6967ee9e CLINVAR:854013 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 067c9cb5-85c1-4e2c-b07c-018188a45fe3 CLINVAR:859484 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 493c23ee-d035-4d20-82ac-8a73cc208abd CLINVAR:859484 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c423b758-1eb4-4cde-824e-408deafc6893 CLINVAR:2718511 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3e328259-133a-48b8-bd4c-ea98794255a1 CLINVAR:2718511 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7d4759f-68dd-4ebb-bf31-ef7a2b0ee0c8 CLINVAR:2865768 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ffb939d-6862-4d52-8abc-732867352563 CLINVAR:2865768 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8b3c507-97e6-4978-b944-7a80707cb7a2 CLINVAR:1506422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ebc9c51-8ed3-4f28-b7d6-042e8a065510 CLINVAR:1506422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8298cd03-9147-4dd7-806b-40a9ccf479ef CLINVAR:643883 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ca4451c6-e5bd-4ab6-a62d-d5c84cbf5f28 CLINVAR:643883 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7f6fe8b-4b55-4fb3-bfca-5ed78ca414cc CLINVAR:1485668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 92da9b7d-7132-4010-9e17-809ec2e54244 CLINVAR:1485668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 69830897-1537-4894-a79c-f8a7b50ddc7b CLINVAR:2831823 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 93ed02f3-ee65-415b-ba8f-14e3613c8ab1 CLINVAR:2831823 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554d4aaf-3429-4bc1-9bcf-5d099bc09c2c CLINVAR:949250 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23dc62fe-7fdc-4d18-895f-8f70cfc4fc7e CLINVAR:949250 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b4674ab-94c1-44d0-9352-40754434fd44 CLINVAR:1065582 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9fb4008f-00d2-4693-b6fb-6c62796b68dd CLINVAR:1065582 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71d945fd-ec9a-4cd1-a74b-b0eff7a2f676 CLINVAR:2435494 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68e6068e-4d49-48a0-8ea1-42dad1feb3e5 CLINVAR:2435494 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7a2104-d272-4529-9749-cfdb614941a8 CLINVAR:339800 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9cdf7ea5-a73e-4e2b-b875-84edcf9e659d CLINVAR:339800 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 339f761f-cb8e-4fde-81f1-a1038903f73f CLINVAR:576865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2637333f-2a90-48a4-a78a-df523e36b397 CLINVAR:576865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b9acfaa7-6550-4e62-badc-904e808b7002 CLINVAR:971769 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fbf4d442-3f55-4c6e-a449-4b78cf916b3c CLINVAR:971769 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f0b644e-51b7-4767-9797-7f37d0d466f4 CLINVAR:840423 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c1ba4a7e-57be-43fe-b5e0-3a9dd88fe390 CLINVAR:840423 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 408968ca-87f5-4ba1-b562-2d6f33ab3056 CLINVAR:1009408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b896687b-a399-4258-aec1-a1c05bd6b1c0 CLINVAR:1009408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 34e75406-819f-4a29-9137-15669601c60d CLINVAR:995686 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 07d1de80-752f-44bc-9d0b-84ab6b9fe63c CLINVAR:995686 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8a7e5fe-0756-49ed-83b8-975945a11e2e CLINVAR:213212 biolink:causes MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9d1cfa97-7892-4e8b-88bb-c1f8c95bed91 CLINVAR:213212 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a11e2a9c-ae4a-466f-87a3-afb642b35539 CLINVAR:425876 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 23d33266-fc13-4d54-8e23-079d867abfa5 CLINVAR:425876 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ba0308a9-4d2e-414f-b901-133111b42bd4 CLINVAR:425702 biolink:causes MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 347450e6-ac56-4adf-bae4-6e80ff52239a CLINVAR:425702 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3483a067-6e56-4c01-abaf-2ee80f122fe5 CLINVAR:425864 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b050e127-a86d-4702-bc27-011ff032b047 CLINVAR:425864 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 40dc9cc5-b8a3-476a-9fab-71e5ab3aebfb CLINVAR:389672 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f628a141-36d0-46f7-96a2-42b03b562697 CLINVAR:389672 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27bb8af1-b542-4178-950f-b1a718f594d8 CLINVAR:1940407 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fee3f81e-e8d6-40c8-a35d-6118d2bedc43 CLINVAR:1940407 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f400a498-5428-47b1-9f72-6e5b66deb465 CA386959765 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 55acbaee-acaa-4d17-8711-6b5e3a1017f0 CA386959765 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db6f057c-cf96-443d-94e0-d1e22ba990cc CLINVAR:1338462 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 53200026-a787-4fa2-86f1-f9ed22dece8a CLINVAR:1338462 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 863807cb-6ae2-4190-aab4-62e7e0d004f7 CLINVAR:252096 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccd63e35-9b29-4fb7-a656-2898c31e1800 CLINVAR:252096 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f0a0ad1-61ba-4240-821c-b974f405589e CLINVAR:161284 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1997185b-cb79-4484-8469-1758ef914af8 CLINVAR:161284 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2a683693-9920-4c7c-97f2-fa74496e7e01 CLINVAR:251845 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ab5a6d2-e078-4e16-974c-dcf014d38908 CLINVAR:251845 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b19d5360-e970-433e-9d1a-4b5504a4036f CLINVAR:251844 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c8223af2-7278-414b-af76-fd1903d24a4c CLINVAR:251844 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4bb0537c-9c2e-4e8b-92a1-614d9c5e97cd CLINVAR:251846 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8b18bb9c-4386-42ad-bdaa-cad805b5219a CLINVAR:251846 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47454a59-e7a9-4e5d-90cd-661a5e36a589 CLINVAR:189297 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 038c9374-9512-40dc-8e3b-702ae3fb2557 CLINVAR:189297 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3eaf1247-0350-4ccb-9c0d-cab706af533e CLINVAR:438325 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cd385406-d6f6-4f03-82c6-a21c9e3aecd6 CLINVAR:438325 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc0d2828-c359-4f91-a662-ba7a3dc58cc9 CLINVAR:375822 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cedbde9b-1b89-4dc2-97b2-2a5a8e819475 CLINVAR:375822 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88f41db7-9a6b-4673-aa2f-a5cae3b3efa6 CLINVAR:921461 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 366cf53d-43b8-44f1-84e7-208b6a24613d CLINVAR:921461 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2cc7c06d-155e-4ed3-85d7-a2334379051d CLINVAR:251881 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8633766-d060-4b59-aedc-d383c38648a0 CLINVAR:251881 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen afa29050-24c7-401a-828c-960423805203 CLINVAR:926176 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ad0bbba0-1daf-4532-90b1-29cda4db2255 CLINVAR:926176 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ff31bdb-8627-4d40-8922-9388b3fedc19 CLINVAR:251249 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cac6b746-3f39-49fd-a8f8-43ffc6659cf8 CLINVAR:251249 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 558c784b-e078-4d78-823d-7a5610c60b29 CLINVAR:251252 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d58f9673-6181-4bea-9587-a4289e655e32 CLINVAR:251252 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe70508-b3de-40bf-9546-b7494c315298 CLINVAR:183089 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a4fedba8-c470-4ba2-8be5-4d3a84c2b712 CLINVAR:183089 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe0834d4-dcb9-4b48-b2f6-d81d7a32bc69 CLINVAR:209088 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 1e1a61ba-19b5-48fb-b5e5-0fade8fbf436 CLINVAR:209088 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b046b4c7-8a36-4532-815b-a4ed6bfcd85f CLINVAR:289969 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 29f5b091-bc95-4c87-97d2-d3f05eb2e7c5 CLINVAR:289969 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab49d909-c681-482c-80e7-40ca21c64651 CLINVAR:373089 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0c0c86fb-476f-4562-b3be-e22adfc7574a CLINVAR:373089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 898b7b0f-7375-4f76-965c-f7c8438ff46f CLINVAR:9447 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b55acaa2-7d2b-4063-8a7b-89989dcba7f5 CLINVAR:9447 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 447ac921-c03b-408e-8b51-ce51c49cb951 CLINVAR:626912 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c604b9d6-46b7-4ada-b0e3-be9d37f064a0 CLINVAR:626912 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94db198b-8183-4d6b-af5f-7625b4fd01fe CLINVAR:222971 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 77fdadee-2c8e-408d-8abc-86e4bf46cd97 CLINVAR:222971 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cdba6f9-e5fa-4763-99dd-8084ce995995 CLINVAR:13902 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cc5e71e0-2ede-43ea-b6cc-dd7bba4181ce CLINVAR:13902 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66ddcd17-e5e5-4aa3-aa01-0a4a4b6ad8d9 CLINVAR:1319383 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a656f33a-4c1d-4fae-ad3d-43cabe43350e CLINVAR:1319383 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f289baa8-0c16-425a-951d-2c4f964533a5 CLINVAR:2021682 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 07d990d1-9dbe-4a70-9242-369b3e97a4ea CLINVAR:2021682 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef2858f5-4212-4ad5-bcd7-03d91a105a35 CLINVAR:1556993 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ed7a383f-1418-4fa8-9eb6-3d544bd2e86a CLINVAR:1556993 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b3fa2bc8-64ac-472a-9713-ab4a48c184e8 CLINVAR:2121544 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0795a02-9663-4fca-8c5a-f4f2680ea19d CLINVAR:2121544 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f95dd147-80da-4cc2-bbc4-0c625d1a6ecf CLINVAR:864271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6236d9b5-3962-41a9-b212-2534b55a5110 CLINVAR:864271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen af54dcbb-f0b2-4723-836e-9d78b20af2b6 CLINVAR:1435320 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 442037a2-790e-4e65-85e6-877aa4ca4b1e CLINVAR:1435320 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58ad6a77-bfdf-4fce-bde4-e66ca6d12f2e CLINVAR:582967 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f44d6cb-6213-4b25-aa1e-8459fb776380 CLINVAR:582967 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37ace4bd-f2cf-4a20-bc32-06ada1e4eaa3 CLINVAR:2038636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9bd439f-ebc7-4cf7-9035-417db5122ae2 CLINVAR:2038636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8672ca4b-9df9-4cf8-82e1-606f6e66ea59 CLINVAR:2115774 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d44cecaa-4e99-4778-adb2-3a6fddadc116 CLINVAR:2115774 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 250c14d5-19bf-45bc-a18a-c80ec44194ef CLINVAR:846424 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 925b7621-bdaf-419e-8975-96f3c8032f78 CLINVAR:846424 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb7d2a61-327e-4a42-9b32-290c8ca60a2d CLINVAR:1365004 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1499f036-ca93-4e04-b2b5-eec1111e004c CLINVAR:1365004 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f6cee18-5bcb-4b21-853a-d469a8eb8b7a CLINVAR:937279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fb822e4-9d33-4586-9ec1-e9f26421928a CLINVAR:937279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fc343da2-9e8d-4163-b6a6-205f93a9b575 CLINVAR:1485224 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8c1415a5-4756-42d4-b2f0-847f3dda512d CLINVAR:1485224 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5ad59a99-ba7a-41a1-b59b-175665d8f8ad CLINVAR:1552198 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 85a3a00f-be82-40c6-aa28-4673c5bbce45 CLINVAR:1552198 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d3a13b6-7be6-4286-843d-4b5dd156b970 CLINVAR:1018068 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f16946fc-8a09-4b49-b7d7-78c3dea536ce CLINVAR:1018068 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a43b0ca3-11d5-4878-9f88-07e7e635595d CLINVAR:1368262 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 163b4604-7724-440a-894e-98c3358fbdde CLINVAR:1368262 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6c9fe86-241b-4588-98d6-23823f4f1bd2 CLINVAR:409811 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c83fc66a-cff5-498d-983a-82d30ff9f35c CLINVAR:409811 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59fcc088-afb0-4c32-b0c0-dcbc8e23863e CLINVAR:1483319 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0738973-a0b1-4c64-9279-a1e699355dae CLINVAR:1483319 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9356fff6-376e-414c-985f-cfb013473be0 CLINVAR:1457387 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 55deb8e2-5eaf-47ca-847b-972633ed53e2 CLINVAR:1457387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3da4dd7b-47fc-4046-87d4-f1ef1c29c57c CLINVAR:409812 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3b7a7bf3-5946-4b76-9022-78702cc8ebf1 CLINVAR:409812 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21fba2c7-5fdd-4a7b-ae60-49f46e3ef3f3 CLINVAR:1509019 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 67ed17aa-5f1e-4de4-b2d6-0150f41e39ca CLINVAR:1509019 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e2bc56c7-519f-4582-8e74-ec0037910faf CLINVAR:2041194 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bbb3248-9a76-4a78-9c94-f1b96d81d192 CLINVAR:2041194 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eacf9256-6152-4263-aae5-323ee0de197c CLINVAR:858173 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9389d3b6-fcb4-4255-a7f0-684ca245669d CLINVAR:858173 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33ef615a-1e74-479a-85db-f0e273b6293b CLINVAR:1949129 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0ffb37a3-1833-4b0e-9343-7c021a821c72 CLINVAR:1949129 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1bacbde8-ce24-4b82-89cb-97edb92434e9 CLINVAR:1003366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a9dae6b7-75a2-4e7b-b187-4a94a5f8b71e CLINVAR:1003366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de817c61-6d84-4b30-aa6f-5c6e9a703a10 CLINVAR:1514219 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e2a53858-7597-45a8-b192-61cf0ee292ac CLINVAR:1514219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 116f286b-2d10-4e9e-8e34-bbbf84ab1119 CLINVAR:1512969 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f47449e-36e6-4504-8b49-283d647ac2a5 CLINVAR:1512969 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c252d0fa-0c76-4c4d-9f97-c90c822d0a1d CLINVAR:2003504 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 00dc079c-77d0-4a11-b50a-0a1f7edde871 CLINVAR:2003504 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6c79e672-f392-495c-a965-b1520b1e342c CLINVAR:1001532 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0ab51de-3fdf-40fb-be4b-50957d832ad6 CLINVAR:1001532 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eaba498c-2290-48ed-940b-97cbffe924e1 CLINVAR:1507291 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29eac851-3162-4342-a80d-93d52530a783 CLINVAR:1507291 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 125c60f9-7b30-41c8-97ba-cb99b218b1fa CLINVAR:1058050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5f4c9736-b99b-443d-8160-c723d1724bb9 CLINVAR:1058050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35978ee7-b57a-48d7-bd16-702903cfb8d3 CLINVAR:2465691 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 228f580f-da62-4255-b89c-2cd55a83d358 CLINVAR:2465691 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6442265-487e-48d3-b02d-0d1fc8e852b2 CLINVAR:967043 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d7f5a5b-7ebd-4d46-8d34-d553084540f8 CLINVAR:967043 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df525f42-4cfa-4377-b88c-398ae385ee8b CLINVAR:1018620 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1929116-093d-4b9e-b484-cbe2f94fcee6 CLINVAR:1018620 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 27400de3-aea7-4a19-8944-a52f2c3ca997 CLINVAR:464012 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a727e62-c2ab-491f-ae67-aaeb023b95f2 CLINVAR:464012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd733440-a32e-440d-8266-2094917b3943 CLINVAR:1392067 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dcee6201-0803-44eb-9a2c-a46fc7899b6d CLINVAR:1392067 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e9d4b66-37b9-476c-8794-2ef89f91dfc0 CLINVAR:966213 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 998c0175-3940-4d40-959d-599edf15792b CLINVAR:966213 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a5dfa00-af5e-4c99-807f-7a083201e32a CLINVAR:1351602 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 928dcede-9d6a-46cc-afbc-a33aa8ea1fdd CLINVAR:1351602 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8dfe9ecf-5231-450a-b4e1-a385f3a70287 CLINVAR:851830 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 10511c43-288e-4c10-befd-60978e75366b CLINVAR:851830 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63179536-3552-42f0-85e9-2e097cd90f34 CLINVAR:1042743 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0ce23c2-1281-46bf-a1d9-ee4d24f18b23 CLINVAR:1042743 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb8e0648-fbb8-43ce-a7f7-e3a337664a8f CLINVAR:1354221 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c774464f-b2d0-4e2c-9d70-1801e4663829 CLINVAR:1354221 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 87d55c02-7f57-4902-9386-300e54ce8548 CLINVAR:839054 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e614ce3f-fa08-4c54-a287-60b3fbd7a274 CLINVAR:839054 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d6bdb542-c0be-46b8-a05e-38d8677ca3a1 CLINVAR:532654 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a0e74df2-3a8b-4e9a-9e00-5e7eabeea797 CLINVAR:532654 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0e467ef-7067-48bc-968a-271755a23d61 CLINVAR:532655 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35526ae5-cbe1-41b3-80f1-00feee85def6 CLINVAR:532655 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 616cf6b2-2d26-4565-ace9-7d1a9dce4d79 CLINVAR:1350529 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c604b6b-9c33-40f5-af2e-6b2b1effef77 CLINVAR:1350529 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 70515560-0fcf-42a3-857f-170ceccf5ac2 CLINVAR:1642471 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bc026087-a760-4c9f-bb3d-daa26dd51910 CLINVAR:1642471 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 776a42a3-76bd-4f26-bd2f-00bb8b7d3386 CLINVAR:1592483 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 58188647-2bee-43ae-a0a1-b91f32832583 CLINVAR:1592483 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2fb56df2-9830-4828-b439-23d39aa825c9 CLINVAR:581279 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c0b15af7-2fcf-4438-a22f-439499982112 CLINVAR:581279 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96b0e7c9-f9d8-4a0d-91d6-988d3c6d2ce4 CLINVAR:1546102 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5693149f-e9b8-45d6-a0ab-71e2e028e0f5 CLINVAR:1546102 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c501b73e-0994-4f2e-b455-366bb8252233 CLINVAR:1421576 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6e9f3ad0-5f7d-4bf0-a640-3b9aa5742355 CLINVAR:1421576 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 564ade94-239c-4a1b-b200-277c04423145 CLINVAR:2090169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fb109da3-c023-4f4d-945a-c615b55cf37b CLINVAR:2090169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 854ad17c-de96-409f-a958-a080fb23580f CLINVAR:1415388 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f0d8cc56-c7fb-4868-bd0c-d8f0b55808e7 CLINVAR:1415388 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 117220ea-c505-4592-a25e-0c9ba7af0813 CLINVAR:1010346 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0ebfb96-0b25-41c6-a563-4f393d4d407e CLINVAR:1010346 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a340a5a0-1b23-4aaa-9b2b-bdcf2e5eee65 CLINVAR:1000965 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e0d2f326-285b-46eb-8ef4-45148721a133 CLINVAR:1000965 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 577603a5-275d-4a6f-9458-d86fef9f9126 CLINVAR:1404038 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ecaf4a1a-82d4-4027-9e90-f7683ec6e827 CLINVAR:1404038 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5c91320f-6152-4910-8a38-d50d6f612a1c CLINVAR:1436178 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc2fd05a-2d4a-46f0-9c83-eecda4d0e237 CLINVAR:1436178 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5336160-116a-4642-9fb0-e1ea3237746c CLINVAR:1701951 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 77a841a1-ef46-4e1e-b83b-e8d353b4d6b5 CLINVAR:1701951 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 91493ccc-4dcf-4229-be6e-2c1c78560a25 CLINVAR:1587386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d24b0e8-dca6-483d-a529-64dcb37dcd5c CLINVAR:1587386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ff1515b-6563-4c69-9242-afd6d670586d CA383506026 biolink:genetically_associated_with MONDO:0015630 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4cb618f7-35ab-4e86-ad64-ecb8c73988f1 CA383506026 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b599e95b-5118-4884-b4be-8297a5457946 CLINVAR:586022 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 757ace06-313c-46b7-921c-ba01c71c0a2d CLINVAR:586022 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7ba66317-d866-45d0-bf84-332615f93b73 CLINVAR:560681 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cbaf4f63-b7d2-428f-86d2-81cf2ca49ee9 CLINVAR:560681 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ad95716-613d-4206-8fee-e5685bd281df CLINVAR:635781 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7548a096-b5d9-406b-bbeb-f62abac9135e CLINVAR:635781 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94b5a6ef-b2b7-4d0b-90ba-de8e6fc865d6 CLINVAR:635782 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 40a85234-c836-4b36-a7fd-4b25d2dff7c2 CLINVAR:635782 biolink:is_sequence_variant_of HGNC:7227 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5cc4237a-5ebb-4e7f-8379-97e9ef23ee28 CLINVAR:254648 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2959aa1a-b4c9-4cdd-8ece-a026c3ce525f CLINVAR:254648 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1a01804-5921-4281-9121-4a1c065bce77 CLINVAR:427633 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e26df191-8ddd-47db-aa0e-6fdf66be956a CLINVAR:427633 biolink:is_sequence_variant_of HGNC:9282 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 184736ea-dd1e-4dea-94cd-9ecc09e5219a CLINVAR:393444 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a44e0df-30df-4826-a080-32ed9ae3a11d CLINVAR:393444 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6aab1c6b-aa47-4418-9d5c-fb7da644986d CLINVAR:549555 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2091302f-1d36-435c-89dd-37e2b545e362 CLINVAR:549555 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec1f2c27-c553-43c3-a158-5aed98541713 CLINVAR:36360 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2af78db6-c78d-4eaf-a3fa-7c8ff7efabaf CLINVAR:36360 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8db31fc-0169-41f4-a1d4-22935c070d27 CA2497028946 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9a8f0d4c-06f5-4e3d-bd44-0b3b3c491531 CA2497028946 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3cd38364-dbf3-4ae1-9ad3-377a9310232b CLINVAR:1966519 biolink:associated_with_increased_likelihood_of MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen cb5ee347-13ad-471b-a121-43b1709ee89e CLINVAR:1966519 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2890c39-3e58-4d38-982b-72cf1d03f11e CLINVAR:2780381 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d7d5a43e-2bf6-4230-974f-601c9142ef00 CLINVAR:2780381 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 724a1ff4-eafc-400c-8d5f-1e7ac01404ab CLINVAR:2088121 biolink:causes MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ac3ac810-98d7-46bf-8863-a3a7fc2f4df2 CLINVAR:2088121 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9a486583-c905-4761-889f-90927c072662 CLINVAR:3018366 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8cf41bb7-54b6-4ad0-9dc8-4d0193872a4e CLINVAR:3018366 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f3d7b78-de61-46b2-815e-9dee1db54b76 CLINVAR:2678493 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c83c6776-7c7f-420c-9572-62af895ef87d CLINVAR:2678493 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9715d080-94ef-40d3-b5cd-9326b43d4d66 CLINVAR:2856448 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 818558fe-960a-4a10-88d8-0a3b3ea37d2e CLINVAR:2856448 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df3b2f64-9209-4f97-aca8-77cc2e14971f CLINVAR:2678496 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5788533b-4b3f-4686-8e51-eb9861ca737f CLINVAR:2678496 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6200d3e9-3aec-4b52-86f7-4a195326241c CLINVAR:2713530 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf8a798f-ff87-4af7-8a1e-c069a08beccb CLINVAR:2713530 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d0b3a71-1b0e-4fd3-aae8-1f150b182db6 CLINVAR:2697441 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1228c55f-a081-4a84-abb3-1f9fac2fa7f7 CLINVAR:2697441 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ccae142-2125-452b-88c5-b12e3824a7b0 CLINVAR:1361711 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 15269689-c9e5-48f1-b496-a820a6722074 CLINVAR:1361711 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1827d378-ec57-433e-ab26-6eea477fd3ea CLINVAR:1610586 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 79ebbcbf-0bf4-42fe-a6a8-1d51c366619e CLINVAR:1610586 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 95ec06d1-0a69-4840-b729-2e378f05df9d CLINVAR:569757 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 06802326-36e8-4570-a20f-0cf7dff2134c CLINVAR:569757 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2828471d-6487-4533-a434-aa0ebb6ce105 CLINVAR:1428742 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa0bdc4f-1726-4666-a1a9-2a23fc33d97c CLINVAR:1428742 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 064af6b2-ed64-4d4a-bd35-b4bcc869ca1f CLINVAR:864259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59957b5e-2d00-4ff7-a975-3cca732865fa CLINVAR:864259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ed28c6d8-e1e8-4e44-959d-7cd09720bd1f CLINVAR:1488888 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 659b3573-78a0-47f5-aea3-576819e20021 CLINVAR:1488888 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fea0afd5-d65b-42b2-bed7-168e722b27fd CLINVAR:1364020 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ecf16b8-b849-45fb-8009-c7837d900e16 CLINVAR:1364020 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 96988b80-c27f-4198-afec-be3c68f0b126 CLINVAR:409815 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f4ceb511-d374-445d-99c7-ae41ea80afc9 CLINVAR:409815 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eb3700c7-65a1-4f4d-9134-b7e6d7e36117 CLINVAR:627343 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen eb3c6fc7-8ec8-464e-a585-6a3bd39d4b40 CLINVAR:627343 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7b855821-f949-41e5-afde-298b04391260 CLINVAR:2893433 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45324f28-ba62-4ecb-83a5-89a5afe8915c CLINVAR:2893433 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ee850b6-6d64-495e-8d22-62d7e1161e1c CLINVAR:2694690 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1f84a002-19de-442d-9aba-e78904f13e6c CLINVAR:2694690 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 263b40eb-dcc5-4541-a8d8-80f3a989e1da CLINVAR:2815871 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfeae796-825c-4c62-a0f8-c47fb1e496d1 CLINVAR:2815871 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5876cdf9-4672-4432-8865-a459e6d0b319 CLINVAR:1356920 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 64573f34-59f9-4d8a-93fd-a39c1c81bcf8 CLINVAR:1356920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1570f6fe-1074-4e9a-988d-88c5dc001fcb CLINVAR:2752186 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6de890d-d8e6-4244-87c3-a4eb39b53dfb CLINVAR:2752186 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5e70099-63be-4a34-89fd-47e6fd8b931c CLINVAR:1057196 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d88644a1-0f4c-4b6e-bb82-f7f32ed2b946 CLINVAR:1057196 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8f52a56-7e95-4c4c-9918-0d9cc403bdc0 CLINVAR:1522045 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a5125765-ffab-4074-a2f1-206b1a9804a7 CLINVAR:1522045 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8a7b6e1-e8bb-49d3-b0c9-4f2a4213b637 CLINVAR:848735 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02e46493-3805-41b3-89a5-23eac523e799 CLINVAR:848735 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8ed3527-274d-465e-ad81-6613a116ac99 CLINVAR:2739759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68e525ec-d991-4c51-bf1b-8b9e71317ddf CLINVAR:2739759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c2a2611d-ee3a-4bd5-8f7a-ab3dd9547d1a CLINVAR:339803 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17ad7892-b5be-4c1c-95b6-6753b8da077c CLINVAR:339803 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f539d7b2-f230-40d6-a053-36cff9a202bb CLINVAR:3023071 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8ca87c6f-049e-4018-bf5c-b5e23a8aff3e CLINVAR:3023071 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4f679460-e35b-407f-9f31-6dc03bd678d2 CLINVAR:2995353 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 506edb0f-7107-4a53-bb7c-8c3de44afe93 CLINVAR:2995353 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5203fc3d-2f9c-41c9-b4f5-60caf2cea7d2 CLINVAR:1718293 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 38293168-84fb-403b-8a05-b38493b74164 CLINVAR:1718293 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef8793a-19e3-4318-8380-b900d3b887c8 CLINVAR:860793 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 636ca295-a60a-4f07-a462-32397848e205 CLINVAR:860793 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0e944a5a-c2d4-4a1e-97e2-f9851385cbd5 CLINVAR:1420902 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 62bb2837-d220-4111-aca2-f5e093a95953 CLINVAR:1420902 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92b010e9-d4da-4993-bc54-3f00f8fc6728 CLINVAR:1046278 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6793e656-44a9-4d81-881d-39b5163ca39e CLINVAR:1046278 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc176c5d-803b-44ef-b0ea-fa235ff62771 CLINVAR:860545 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69cd1507-4353-45c2-ad4d-e1bc3e491515 CLINVAR:860545 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d82125f-8030-4b69-a93b-3a055a0bf9bd CLINVAR:963047 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 788a434e-c5d8-481e-8b00-c81d833a9d85 CLINVAR:963047 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc7302ad-27ca-44b3-acbd-584a3baecb0f CLINVAR:2879675 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 613a443a-012e-47b5-97c9-33a71142a360 CLINVAR:2879675 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b1f4a2a-2f2d-46b7-b515-95ee32764d9a CLINVAR:2741843 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8eb05f61-534d-4a52-8dde-359a2f0a0d5d CLINVAR:2741843 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a5512046-71ca-406f-a866-2cf66838b057 CLINVAR:2749609 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 18f4b5ce-c4c2-4265-932d-8ea580ca78a8 CLINVAR:2749609 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30358682-d652-4b02-b162-29efef432637 CLINVAR:2864169 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87381aa2-f6c4-45fa-bb6a-a6a36bd360a3 CLINVAR:2864169 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ac58dcb-d24f-459f-be72-0a5ded87407f CLINVAR:10199 biolink:associated_with_increased_likelihood_of MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 951abc4a-b7c4-4f92-bb0d-0c147682ff4f CLINVAR:10199 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb2202ed-61ac-4af7-886a-68e7a9c00aa1 CA414892027 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 08f754d2-cfe0-4cd8-aa40-048383f35894 CA414892027 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 177bc2b5-e465-4f6b-9030-7b1533e310a8 CLINVAR:209092 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 60f2ef46-4864-40f9-87ae-a6028227d295 CLINVAR:209092 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3f4c7401-d088-4567-bb74-e1f81ae65d27 CLINVAR:373121 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 150625c0-362f-4ad2-9088-3db94056e7bc CLINVAR:373121 biolink:is_sequence_variant_of HGNC:11188 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1194cf0-7c62-430a-8a1d-7ebdecbf6f14 CLINVAR:7280 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3b20a2a8-4e54-45cf-bfc8-b5a7c3914aaa CLINVAR:7280 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e594424c-c377-4b7c-b1ab-05f61bcf9d58 CLINVAR:449326 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 96b9f581-d6df-41ba-a035-912a082222ca CLINVAR:449326 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35ccb0e1-8478-48f1-bec3-5969544ee903 CLINVAR:931135 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f5fea3b7-4f5d-4ef7-99b6-461401e03aaf CLINVAR:931135 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9f9f071-408b-4a28-b2de-eccddf83575c CLINVAR:7281 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 163518bf-4f9d-4ed0-83ee-a41ed1de9a5d CLINVAR:7281 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc109548-726c-4924-93e2-8e21d163cbc8 CLINVAR:7285 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0b31e49b-858a-499f-86d2-422064f7c7f9 CLINVAR:7285 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d786c92-3728-48db-8902-4bd9d2c8f475 CLINVAR:7279 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5480480f-cf4b-4a55-ab27-a6d29e639c3b CLINVAR:7279 biolink:is_sequence_variant_of HGNC:2974 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4371c49e-e71d-4f92-b330-ebaf3f522ad8 CLINVAR:158984 biolink:associated_with_increased_likelihood_of MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4261daa2-a7bf-4408-b352-2e6e26803585 CLINVAR:158984 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ce50e3f7-48e5-4476-a3e9-2a7f24f6894c CLINVAR:158987 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5958c060-2089-4011-8f14-33cbec140541 CLINVAR:158987 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1e7cfc2e-3ea4-41bd-ad4e-f1d6a53ee64e CLINVAR:11055 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1b2430ff-e76a-449a-94bc-33fc3a9e42e8 CLINVAR:11055 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 901a1ad2-3fdc-4447-a409-37a2ec4c377c CLINVAR:11060 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 4a8519aa-2ae9-4d79-8ef6-7ced3d1b1b2c CLINVAR:11060 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa252dfc-e95c-45d6-9ef9-e056decbcc7e CLINVAR:11057 biolink:causes MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 52112f2f-8d6a-4ef1-8295-804eff81ecfa CLINVAR:11057 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37a62f98-ef22-4f53-b4e5-b348487cb127 CLINVAR:158926 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 264487ab-54a9-4920-9041-a0bf64413f94 CLINVAR:158926 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f1ec9d5-1a9d-4883-8fa3-e60b6662f0ec CLINVAR:167307 biolink:genetically_associated_with MONDO:0018947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 816dc284-148b-4f5b-81ca-7eadccda1048 CLINVAR:930768 biolink:causes MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1c412357-92ff-424b-8ecc-570054259022 CLINVAR:930768 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb983cf0-92db-46d6-8c8d-3d149891c6ee CLINVAR:158953 biolink:associated_with_increased_likelihood_of MONDO:0010683 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 751e49b5-bf37-4b9d-8ec0-873ab16459a5 CLINVAR:158953 biolink:is_sequence_variant_of HGNC:7448 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8160e188-bfb7-420f-8299-b00ec63394ba CLINVAR:552042 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0a7b7202-de80-4dcb-901e-b4192df0a90d CLINVAR:552042 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d8df64b-add9-4d63-9442-c8f399b9e1f5 CLINVAR:553493 biolink:associated_with_increased_likelihood_of MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 7d4ffa5d-c29b-4c29-aa21-7c734cb56a73 CLINVAR:553493 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 58e05c2f-3af5-434b-86f9-e56914f7dd8e CLINVAR:496132 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen ba9618ee-ae83-4307-8a31-3da5a0e0426e CLINVAR:496132 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 104780b1-3d81-440e-a867-3d54c09f0f99 CLINVAR:506284 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2107d8f2-2b35-4c01-8e0e-7a51c845c8bb CLINVAR:506284 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa6cb23d-dabe-41a0-b1ea-af649d3efebd CLINVAR:552018 biolink:causes MONDO:0018958 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44174376-0130-4633-bd57-497022ef8af0 CLINVAR:552018 biolink:is_sequence_variant_of HGNC:7720 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0f5000d4-88e9-40e9-b392-6b3cd7d52785 CLINVAR:4027 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7ec72911-8f7d-4c2b-a7a6-2aa80022052b CLINVAR:4027 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb62edbc-3cd2-4dfa-9a12-4ab8d896783c CLINVAR:2710027 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c8e622a-9345-4f01-bd1f-fd3b8e43c5f8 CLINVAR:2710027 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f7ba0184-be0e-4144-bf07-09d862afde51 CLINVAR:1253809 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9fd93ec1-b161-491c-895f-312302a2ec3d CLINVAR:1253809 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8530175b-da63-4b77-a803-101cf1708793 CLINVAR:642707 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d22a7f1d-7d95-4cdb-b910-1c309db90ef8 CLINVAR:642707 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ed2441d-2a35-4a01-8580-974e3d12f466 CLINVAR:12996 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bca73b08-8746-449b-bead-6a9e96fc67bb CLINVAR:12996 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cd9161cd-3e03-4180-a183-91186e4834a1 CLINVAR:438314 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f6bbe1c2-c4fc-4211-91a0-8ef09ce535cb CLINVAR:203590 biolink:associated_with_increased_likelihood_of MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f3e8b931-d0a8-4aff-a9c3-211764cfa840 CLINVAR:203590 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf92fd5c-e463-46b8-a9bb-55decf566158 CLINVAR:657040 biolink:genetically_associated_with MONDO:0008723 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d7f5c7e1-5f93-4f5e-863f-e18dedc70c0a CLINVAR:657040 biolink:is_sequence_variant_of HGNC:92 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen feed5689-34fb-4150-82e9-0c68c3405c34 CLINVAR:440637 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8b07a02-541f-4340-90db-2b1296b1f775 CLINVAR:440637 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 76c0914c-a836-4bcd-a77a-5ab378dbff42 CLINVAR:926526 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9e91d813-cce3-4bf1-8d6f-575861b7a1d1 CLINVAR:926526 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ddce367d-1f7e-4300-b98b-90f63d7a91bf CLINVAR:251817 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b1ed3e7-2f53-44a5-9943-c9c5b0c008b0 CLINVAR:251817 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5944e025-6b54-405f-ad24-1fb3ffec0581 CLINVAR:251766 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b1ad7395-a2b4-4749-8318-b67b8c9c4221 CLINVAR:251766 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc34a7b9-e281-4b00-9afe-848bde2c0de6 CLINVAR:251765 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4eebfe10-005b-41b1-a2fa-8d24762fc102 CLINVAR:251765 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b702cefc-9e6c-4282-a319-1b2e2874ef3d CLINVAR:936786 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a61844ee-f02c-49cc-a299-1439ba86d047 CLINVAR:936786 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b06ece93-458a-47b3-84df-deccc34637a3 CLINVAR:561681 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f9d3d053-fae9-4b91-a678-688d723fe2fb CLINVAR:561681 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3aaa2179-22b5-4f85-a73a-a2fc9e7876e7 CLINVAR:560679 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen bb7c4573-4ade-4926-968f-973c9437e242 CLINVAR:560679 biolink:is_sequence_variant_of HGNC:10023 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 823e635b-1d01-4e26-8b94-db6afa8b378d CLINVAR:451330 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen c781bbce-5520-499f-81f6-b073b9eef305 CLINVAR:451330 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 66b7b7ce-ec9c-4059-9948-b9a0a36c894b CLINVAR:12982 biolink:causes MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 9a6be3f7-6ea1-4bc4-af58-f0fd546d5b0d CLINVAR:12982 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e8839289-97ff-42fd-830f-36bb5d34bc97 CLINVAR:582126 biolink:associated_with_increased_likelihood_of MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen aa7c31c2-ac55-437c-a0db-18bf52357a3f CLINVAR:582126 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 843725f8-08b5-4893-8017-d00db227bcda CLINVAR:201153 biolink:genetically_associated_with MONDO:0100150 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d8e5f93a-ef01-4d8c-a424-a8a5410b9814 CLINVAR:201153 biolink:is_sequence_variant_of HGNC:10483 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 11eab309-dc4d-4a6f-9206-54cb9bb28ccb CLINVAR:1610571 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9a1d3021-e0ab-4f39-a39d-bce95b33757a CLINVAR:1610571 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31cfe077-50db-4924-9da4-8e517449fd1b CLINVAR:1576061 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c3b0ac79-ecea-4041-bbc3-d73bba3d8998 CLINVAR:1576061 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8191294b-c1c4-4d61-baa3-d3ea6a9365cb CLINVAR:2295171 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e8968063-5b4c-40bb-93ca-e632d9d8b09b CLINVAR:2295171 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 870fa530-36a7-4aa3-b1e5-cb44df0dcaef CLINVAR:18012 biolink:causes MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66e4ba51-ec7e-4c64-a2c7-9376c166e6ac CLINVAR:18012 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03bca575-2679-4671-973e-30cb7af118b9 CLINVAR:226353 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 93a956a0-3d27-49f9-b306-f3bada7f7197 CLINVAR:226353 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbe6a176-ada3-4800-aebc-8cca5e14963e CLINVAR:328053 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b9559d2-6486-4feb-8cd4-ab3e743f9b64 CLINVAR:328053 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82f11777-5a9e-4c18-8492-b984d0bdfc72 CLINVAR:2057364 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d21ec1fd-cb0b-4739-a3fd-cc75da203df0 CLINVAR:2057364 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 13551e4b-fc6b-406a-afff-78d81ac6402b CLINVAR:251886 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c9918234-0317-4666-9351-2ecf12c69de5 CLINVAR:251886 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd33a046-d15f-4772-ae4b-efcdc9f384f7 CLINVAR:161285 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d1aab92f-030b-4b80-8d3b-2876b461200f CLINVAR:161285 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 82c06180-bac4-4c38-8ee3-2d215737b822 CLINVAR:251864 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fe4d52b2-fccf-47b8-9a0c-7d41df34c1b6 CLINVAR:251864 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f33efdaf-6487-4136-8173-4095af02a71b CLINVAR:251865 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9b4bfad0-2e93-4d7d-b4ed-3a17db442d81 CLINVAR:251865 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1dc2ea3d-0ff8-401e-906f-46c9c3ebe986 CLINVAR:251767 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7392f141-b2cf-4201-a64a-10330fde4820 CLINVAR:251767 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5606e393-e4a2-44e6-a7ea-7d04b40855e2 CLINVAR:3694 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen bea25de6-d2bc-4cff-bc66-43c169c158a5 CLINVAR:3694 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 493667e2-5c0f-4554-9879-55df311dc8e2 CLINVAR:440548 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6862052b-e354-4206-889b-b13552ce52ca CLINVAR:440548 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 618f782c-9139-4156-85ca-59c6e972889c CLINVAR:252308 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 40fdd0c4-ac87-448d-af06-81e2eb18ec38 CLINVAR:252308 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75649bc0-8163-4438-9335-7d643c4896aa CLINVAR:993226 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb848241-c946-465b-b98a-45f327f7b0ea CLINVAR:993226 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f575cc6d-e722-4aa2-9f7d-a5233bd713f0 CLINVAR:251900 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f0badb9a-4e16-4ae3-b634-a23c29f85d55 CLINVAR:251900 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 98d4c1b1-017b-4a7f-93a4-2bdb2fb48833 CLINVAR:3696 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 013a371d-649c-4895-89d8-7545a74ba348 CLINVAR:3696 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7d5858c4-dfdd-4086-aa86-1cab62bd01a5 CLINVAR:251731 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 0da03e47-23c3-4d49-a2ef-12aa1fdcda39 CLINVAR:251731 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 85113055-bcd4-4890-a8a8-5d132f285328 CLINVAR:251870 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e88cb69a-aff1-4bae-8bfb-aba3f5e05175 CLINVAR:251870 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84677c89-ddba-4f9b-a64d-08055ebdbcf0 CLINVAR:919898 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86edced3-236a-4ae3-a082-060bb4913cfa CLINVAR:919898 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5219deaf-32f1-4e74-84fd-8bb23059b540 CLINVAR:251130 biolink:associated_with_increased_likelihood_of MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a6c99ade-2dc9-4716-a41c-8e3d805f2828 CLINVAR:251130 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b658c67a-1cd9-46fd-b63f-4197aa0cb898 CLINVAR:161278 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f7bdf963-8f70-4dd2-b529-2db87acd2eb8 CLINVAR:161278 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f030293-3961-4c11-832d-fedec42dae3d CLINVAR:1509293 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 25e28cf2-0549-4573-8076-e4ee8d9f1021 CLINVAR:1509293 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3dc2d473-df58-4de7-921c-b7011d8ceb87 CLINVAR:251949 biolink:genetically_associated_with MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 66e58a47-1e62-4491-8530-da1aa120368f CLINVAR:251949 biolink:is_sequence_variant_of HGNC:6547 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6112caa0-da98-4098-8a3f-743062eac5d4 CLINVAR:251147 biolink:causes MONDO:0007750 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a7f386b3-59e5-4093-8c03-298f7305c1b7 CLINVAR:1000222 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5dbf6b7f-071d-40f5-bba8-85422edca58f CLINVAR:1000222 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 52d41b7e-6b91-49f0-8357-53f7c9e424bd CLINVAR:220185 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9eb298bd-5781-4383-83db-14530b1a1781 CLINVAR:220185 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3986ac7-48f7-4e15-a801-9a80fc0e3b34 CLINVAR:233523 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 460a7a90-15c0-469b-8636-d971a69e48b5 CLINVAR:233523 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c560a3a-29ec-4ff9-ab1f-bea876c5d5d7 CLINVAR:220203 biolink:genetically_associated_with MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5ba1728a-60d0-4632-ac05-5367bc7af8b7 CLINVAR:220203 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f6f8ef86-4ca0-423d-b5a1-e2f72be4124b CLINVAR:449776 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ab38ae96-451f-433d-aa90-cd3ea4e3db91 CLINVAR:449776 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1c9c2cf2-2622-4ba5-bc7b-23322f0f5fb7 CLINVAR:619511 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen efa8029c-4755-40d3-8ac1-2c3c943b83a4 CLINVAR:619511 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e73fa38-6aa1-4527-9aec-427ac3942369 CLINVAR:90178 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 203c0445-f4f4-43d3-8e2d-b20f2ef0bec4 CLINVAR:90178 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5de60ce0-c5b4-4501-b7c3-2aff36657547 CLINVAR:90011 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 648a06e5-156e-44fd-89ac-0a17fceb61a5 CLINVAR:90011 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f25e097-c444-4a8b-a954-f6aa8061d620 CLINVAR:561172 biolink:causes MONDO:0012249 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b7b83638-f192-4f40-8283-71f2e26777e2 CLINVAR:561172 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa8c5831-7384-4bea-92d4-c617b44b6ca0 CLINVAR:89816 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 81246114-2ab7-4998-8501-e31a5ba43a65 CLINVAR:89816 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b2b58cb6-d9a8-4cfe-93a6-89c1f7931134 CLINVAR:619558 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2b94af58-c7a7-4802-95ca-69a86e374f88 CLINVAR:619558 biolink:is_sequence_variant_of HGNC:7127 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5282e767-573e-4f8a-9a2d-2d77103d8938 CLINVAR:1067956 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 234d433e-102e-4966-af2e-ee0d1ee59d33 CLINVAR:1067956 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61bfc1fb-0861-4669-93c6-1360f670be62 CLINVAR:90503 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 12af7ac6-63fd-49d5-b0d4-0f50ddfdd714 CLINVAR:90503 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen db0fc441-cb88-4f7a-998e-2cda607551f3 CLINVAR:142708 biolink:causes MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d4635660-f502-4f3e-9880-625382a0f369 CLINVAR:142708 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03bca496-2c1a-4541-8ee6-25b33e45844c CLINVAR:90880 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 19486d1c-2c86-4347-b865-7d1f09eb93cd CLINVAR:90880 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec1da93a-b394-4a45-9e86-62f8824987b9 CLINVAR:91246 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 7d49bc43-0e6e-4364-9af9-98a32555fada CLINVAR:91246 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f956485-e4e5-4ba0-a0c8-0f0eab70436f CLINVAR:246389 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen a96a4d97-70b7-4f3e-b0f3-341bcddce522 CLINVAR:246389 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e9d2caf0-a37f-46e6-9bce-a3995d6c13c4 CLINVAR:89573 biolink:genetically_associated_with MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 46dca92b-b980-4b50-973a-c978fb8d904a CLINVAR:89573 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 369266b7-06a7-4fab-a329-d16fb323560f CLINVAR:455128 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 284cfa1a-2f22-49c1-bc8a-4e26986b40a1 CLINVAR:455128 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen acd01bf3-b354-4357-8c76-4ad09cb5b85c CLINVAR:140774 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 02e48ed1-62fc-49a2-8f2a-e0788a88b3bd CLINVAR:140774 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5948681e-cd54-4639-8589-554e1f0b8214 CLINVAR:216294 biolink:associated_with_increased_likelihood_of MONDO:0005835 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 33441a0d-734a-49b1-8f06-7cb74982722e CLINVAR:216294 biolink:is_sequence_variant_of HGNC:7329 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 834ed7ed-bd42-457f-8524-dfcca1bb3b46 CLINVAR:162508 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3492750a-a063-4c41-b7ef-3ea009a091e8 CLINVAR:162508 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6085070a-9974-43a3-a0c5-cb4c49b25c75 CLINVAR:91361 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2747d210-d2c7-4470-96b7-ad46b8fbe9c3 CLINVAR:91361 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9988daaa-fb03-44ad-9cfe-f2515895f821 CLINVAR:91313 biolink:genetically_associated_with MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 494bf522-7fa5-45ed-8b93-1b4cdc947e1a CLINVAR:91313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9038f611-874b-4cd2-a23a-9e495093347b CLINVAR:439243 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f7df19c5-03ed-4b14-bd22-b0d0d81a1f0f CLINVAR:439243 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f96592b8-c5a8-4f86-80d7-a584c684c810 CLINVAR:480313 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0f306c8e-f600-45a5-b091-3f719534c40e CLINVAR:480313 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 876ab501-f4bb-4632-acf9-f58bd24e5c41 CLINVAR:2673296 biolink:causes MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b2c58d81-2d1e-4eef-986a-4dd89887f1ca CLINVAR:2673296 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84ff6ee1-44be-4f0e-a368-4c8bdbcf6143 CLINVAR:2673426 biolink:associated_with_increased_likelihood_of MONDO:0007356 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3cadeb62-bf9c-4898-bad9-26a0fbc2fb2e CLINVAR:2673426 biolink:is_sequence_variant_of HGNC:7325 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3bf1a179-7ff5-45f6-9566-62e36d685b9e CLINVAR:811810 biolink:genetically_associated_with MONDO:0010602 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 09e327fb-3d49-406e-9c9b-2db0adbab636 CLINVAR:811810 biolink:is_sequence_variant_of HGNC:3546 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30a93268-7c4a-4992-b55c-8f817cc00bd9 CLINVAR:627180 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 0d1503cd-5766-4546-8607-43e63479b713 CLINVAR:627180 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53c9864b-c03f-47f9-8591-b2d6961cd897 CA2580612120 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b47cf555-7714-4e3f-a616-8e05ee54cb6e CA2580612120 biolink:is_sequence_variant_of HGNC:25719 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa7ddc41-2bc6-4ebe-91a3-d14442a4556d CLINVAR:2084589 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aea272c8-3bc8-4882-b51d-8a8497834b6f CLINVAR:2084589 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen df32a79d-cbce-47aa-9b24-75a18600882f CLINVAR:972755 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9d4f6289-23e9-4141-b36c-4578bc54fec3 CLINVAR:972755 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 47bc3467-f7af-4d2a-848b-f6e3a215e507 CA386965420 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f82a66da-76db-4b6f-a9b7-e192513c7ee5 CA386965420 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen aa8d58d0-d181-4ec7-a697-6233d9a34482 CA386965487 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen df5b2994-79b4-4e85-91c0-f1295111ebcc CA386965487 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4cc57cb-53fa-408f-b4dc-8f063848ee25 CA386965729 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ec8e8694-fe45-4e12-86d7-a3fbbad38ef0 CA386965729 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 03e4c68a-ae15-4664-b286-127fd41f5e90 CA386966305 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33a487e5-9a76-4fa6-b617-174cc28f3e56 CA386966305 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a86c6004-0a93-4def-9f89-093723271173 CA386966297 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53f91cf4-fc4e-4667-a5b5-19add42a83c6 CA386966297 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 84445f0e-68fb-48b9-9709-4f2ef7e95d84 CLINVAR:1304284 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 798e16e8-a2b0-46cf-babe-8cf9aa5613a8 CLINVAR:1304284 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ca29f41-15e3-42d4-abec-b66d0074cd91 CA399806749 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 1a41dbbf-624f-4ef9-8e49-f1009f7c2e98 CA399806749 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 51d4aa2d-ceef-461a-b2b4-979d313e3448 CA2261365225 biolink:associated_with_increased_likelihood_of MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4dead099-cfb8-46e9-b6ee-5d735a83206d CA2261365225 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 64864b9f-2abb-41dd-8dd1-740e44431575 CA399805683 biolink:causes MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e7d25de8-f071-421f-a6a3-91c9cb105a22 CA399805683 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9df6c7d1-96c8-4d52-ab75-94ffae6df2b0 CLINVAR:91386 biolink:associated_with_increased_likelihood_of MONDO:0013699 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen eb2f32c6-35bd-4d80-974d-f5024cbcf81f CLINVAR:91386 biolink:is_sequence_variant_of HGNC:9122 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06ca805d-9dd0-4974-b0c1-662f108f424c CLINVAR:872112 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1e71016c-fae5-4d7f-91a9-e41c081009bb CLINVAR:872112 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 132d8606-2fd7-4ca1-a455-aadd0e136270 CLINVAR:156623 biolink:genetically_associated_with MONDO:0007113 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dad40b2f-0aad-44c1-9632-ac366748afca CLINVAR:156623 biolink:is_sequence_variant_of HGNC:12496 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d52ce6e7-cb74-468e-929f-7ac84a00b72e CA2849481719 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3bae71d9-d158-4139-9740-a840fcefc89f CA2849481719 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdab84f0-3925-4862-9842-0083da726824 CA386966185 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24882807-3ef5-4bd0-8825-67e21c7713e5 CA386966185 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 579cf6ea-c669-46b0-b99b-b36f432c1590 CA386960147 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33ba2cf1-4e84-49d7-85d3-c644161959be CA386960147 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e5b860a-eeb2-4e94-a41f-cd99d24428c5 CA409105364 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1445f6e-c554-4a77-81be-618880e75831 CA409105364 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2843e1a7-7535-4384-8a7f-81438caf822e CA409108770 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 41ccb991-ea60-473d-8716-02eb2a74195f CA409108770 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf8dc680-0d4e-4ae8-903e-d0b8c9add42d CA409108445 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 2f453c56-2d18-4a7a-9cad-66b5057d8d84 CA409108445 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b765e67-df2c-47db-9fb1-dc7ca071a112 CA386960129 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6451ac1-8518-48c3-b412-fb8fca5e92f6 CA386960129 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a67d5b0-c699-494b-a36c-6c25b3ed0430 CA386960156 biolink:genetically_associated_with MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b2088364-a6c8-4e35-afec-be447cecc7c7 CA386960156 biolink:is_sequence_variant_of HGNC:11621 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ae4ae4a-d5dd-4ce0-b916-ba7f05e14d8e CLINVAR:387822 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21988fee-593a-4c02-845b-c3be43d394e0 CLINVAR:387822 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 79591a03-61a0-4c45-8852-87ce737c9a39 CLINVAR:853965 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a58cd18b-916e-461a-85d1-e66e9bbf7b4f CLINVAR:853965 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen adc0fc6d-7ca4-4855-9aa6-771911964608 CLINVAR:891607 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f95a2947-882b-4b49-a63a-4b5eb7dfabd2 CLINVAR:891607 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1fb59fc-0178-44b1-97c5-e72c37243965 CLINVAR:205566 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b0f257dd-0876-47cd-b3a6-50d56429b076 CLINVAR:205566 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c32ffff3-9151-4b5e-ac26-5b4a718aa96f CLINVAR:328349 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8fd6bb82-0c2f-4c84-858a-f14234c3c6ef CLINVAR:328349 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 28d9b0ed-5b7d-4b49-81b0-9a214c514003 CLINVAR:2145645 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4631d218-7267-4ed8-9bb0-f37cb3401f63 CLINVAR:2145645 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7baddc9-f6c5-4b16-a6b2-5a84c69b5c95 CLINVAR:1552732 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dfaa1a33-ba6c-40ee-8155-23a054779566 CLINVAR:1552732 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6fe7328e-b4b3-4480-9817-1b42dfb86b0f CLINVAR:288963 biolink:genetically_associated_with MONDO:0012999 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c832830a-536d-4aa3-b5ed-b5b3897fabd7 CLINVAR:288963 biolink:is_sequence_variant_of HGNC:4136 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 679bf3c4-547e-4746-b695-b6825d5f1e0a CLINVAR:439742 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc785b6c-8db6-46cf-ae1f-562df1b4fb4b CLINVAR:439742 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1e95624-2dfd-4d9d-bcf6-a8a2ea0b7eec CLINVAR:946936 biolink:genetically_associated_with MONDO:0011132 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 23589e1b-c41e-455d-ab6e-24270b2ef500 CLINVAR:946936 biolink:is_sequence_variant_of HGNC:12765 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5b8cdab-6e8f-41f6-8404-950961c59ecb CLINVAR:143556 biolink:causes MONDO:0010726 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d5d57497-a7ed-4223-8ebf-d67e07d4466e CLINVAR:143556 biolink:is_sequence_variant_of HGNC:6990 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15e9fcbd-331c-4f9c-aa8f-3871e1a7bdcc CLINVAR:1684314 biolink:genetically_associated_with MONDO:0013144 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c426656-ec8a-434f-a9d6-46c954f532ae CLINVAR:1684314 biolink:is_sequence_variant_of HGNC:775 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6daed9e9-dbf5-4672-9c64-0009cf0661b7 CA913184734 biolink:associated_with_increased_likelihood_of MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ed1ee7db-3cbe-4ffa-a07e-ad3d0aeabca6 CA913184734 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b78fa0d-d55b-4ccb-aa24-bddfe6f2573e CA658795239 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3c4fdcbf-1498-4c0e-b015-92cfbbd15fbb CA658795239 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de3494aa-db30-47e9-8812-c4ef127a6b84 CLINVAR:554983 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b41b8c52-eed2-430d-af12-930be09bb088 CLINVAR:554983 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 88e4f2e5-f38c-4cf7-8e01-a8c732d00afb CLINVAR:849313 biolink:causes MONDO:0009290 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 502c8614-6418-4c57-86e4-366657e7c1df CLINVAR:849313 biolink:is_sequence_variant_of HGNC:4065 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5f143d7d-1d1b-40d2-a5ae-83d4a1223390 CLINVAR:3020821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5b9ec30-f00d-4101-a863-c6a48047975c CLINVAR:3020821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4855a85-1386-4933-9c64-699ead48cf9e CLINVAR:1401156 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b51b23e-7d8e-473e-9c04-99d4afcef230 CLINVAR:1401156 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9b3ccc2f-6145-4fc2-b69a-e10186092a5b CLINVAR:2753273 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afb526d0-bf4c-470d-8bd1-98da3a577d6a CLINVAR:2753273 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8a0db33a-6a6d-4689-a9f6-a112b0d1f321 CLINVAR:2905469 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f04c5efa-63fb-4e3c-a83a-5a9b8b65468b CLINVAR:2905469 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d1c4f174-f67c-4d21-bc7b-5bc2d57c4cd1 CA410202475 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f13fb534-a37e-46e5-86a5-ac713bcc8709 CA410202475 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 505cc8ee-496d-4c1b-bb35-8f192b585550 CLINVAR:944219 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e80378eb-1526-4cd9-bebb-2327cc904bd1 CLINVAR:944219 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 002316cf-4d76-48ed-8c7c-edd91f66a0f0 CLINVAR:2732592 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8faa8e77-ad5e-4a91-b09f-f86a3710ca18 CLINVAR:2732592 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe3e70b7-8ef8-4354-b901-ee5e5ed0111d CLINVAR:1945937 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d184619-82d3-4857-a2d5-bf9e1a0129be CLINVAR:1945937 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 688ef209-cd4e-4c33-8f02-dc84c5ee2e53 CLINVAR:2757681 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 53b02ea9-5b48-4eb7-a802-01cd87bd2467 CLINVAR:2757681 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c59012c-245e-4ae8-91e6-93d64fac38b5 CLINVAR:2883235 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd4d6e7c-1222-4148-8366-26f2675f46d5 CLINVAR:2883235 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7868920a-488f-451e-9ec7-7f5f2f00dde1 CLINVAR:2692676 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b067d231-0833-4998-aa9c-7f96d01f99bb CLINVAR:2692676 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8b5a617b-8f87-4131-bfc1-57e770fa73a3 CLINVAR:2834717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7c5e16f2-fa0c-4fbd-bef1-b696be82a89a CLINVAR:2834717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12c7b982-e0d4-4abc-ae44-d0eaaf7ff15c CLINVAR:2730661 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e154dc76-938d-49fd-a443-f70343478d06 CLINVAR:2730661 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a1b6c967-8853-416c-8a7e-ecdd588e486e CLINVAR:2859737 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 94e6af8d-7605-4f6a-af14-9a64a3d97d0a CLINVAR:2859737 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f87d7d76-17fb-4f0b-adec-3242a542ce39 CLINVAR:1898434 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ac356d38-c937-463a-8813-0e5774914c37 CLINVAR:1898434 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen badeecd8-2273-4779-9302-67c65b3b6b07 CLINVAR:1482816 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 099c943d-e345-4fe1-94d6-6d936f8a21a4 CLINVAR:1482816 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d0265de-e425-4e70-bdfe-8d9f9210cb39 CLINVAR:1022622 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b7d985a-c152-4cd4-9839-eb2091d038e8 CLINVAR:1022622 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 134813e7-61a0-4c60-a13e-19a9dd5fcea3 CLINVAR:2678498 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47661c35-7dd5-47f0-9d8e-dfe29b7ba70a CLINVAR:2678498 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2444c14e-ad6d-4d4f-bcf8-73e83c6e2511 CLINVAR:836080 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c7cd2d2-2d4b-4710-9100-8d52eb492614 CLINVAR:836080 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d8508974-3d91-407f-b30a-5c3477b0f2cc CLINVAR:2663436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6515403-d2ed-4bbc-b67c-8506aa493e17 CLINVAR:2663436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dd554cbe-ebd6-44b8-be05-b63189330323 CLINVAR:2990567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d91a557-7c5a-4c73-ba79-86ee2f532517 CLINVAR:2990567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fbd4b0d7-d3bd-4680-8ff7-675d18ac4ccd CLINVAR:2959673 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d2372978-d6fc-42d5-8b71-4d05a027374d CLINVAR:2959673 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 39374a25-8ef1-4f9a-8b20-51bf9d1e44db CLINVAR:2754122 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24cde824-3da4-4c5e-9b35-d8ded775f488 CLINVAR:2754122 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6e710369-3cdc-4766-9a7a-b7f9e9edac32 CLINVAR:1602756 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1ddb7181-ed90-49ce-a236-359fadc6a197 CLINVAR:1602756 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21cd898c-0b9c-4ca6-980f-63ec8667824f CLINVAR:339846 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8027973f-01fd-4deb-93f7-21670086b0ff CLINVAR:339846 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 261948c1-40ab-454d-94a1-748fffc84ca2 CLINVAR:2803152 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9f3d95b7-b65d-4e52-9e89-e5fb305918f7 CLINVAR:2803152 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 71911908-3e7b-4420-9319-0d71d32fa426 CLINVAR:1989558 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8bf9960f-5452-4f3a-96f6-94453f5f8032 CLINVAR:1989558 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4db82415-59f0-424b-8282-5593f99641d3 CLINVAR:2000813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d36c5d7e-f5ba-45ac-95a8-ab75099fcf6f CLINVAR:2000813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b936229d-1c51-45d4-85cd-464497e96a5d CLINVAR:1978596 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7ade2804-32bc-4728-b4cf-febe6a670562 CLINVAR:1978596 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a3c6dbfd-0e44-4323-9c93-fa8ea37dbf30 CLINVAR:937462 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e517e731-d810-4ddd-8458-cf321c29a8ed CLINVAR:937462 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b4597ed9-808e-4ea8-aa1e-37e90a884476 CLINVAR:1523457 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f2c2bed-d8aa-4d0a-8766-639d249e792c CLINVAR:1523457 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 819ba3da-8fef-4a12-b610-3af80c7151b4 CLINVAR:942222 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 33174051-69f1-4381-9aea-f4cedba4c28a CLINVAR:942222 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e08a8442-995f-4bf9-a3b1-0f392c08e52e CLINVAR:1397177 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen aa285650-edf6-4ae7-94f0-59b925b4ef17 CLINVAR:1397177 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2ecdaf6c-f717-445d-925b-e7eda95a9e73 CLINVAR:863315 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cf1ac02e-2667-481e-a4e9-52aeb5c15d6b CLINVAR:863315 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7baf4401-da97-420e-90ec-c27f114d0add CLINVAR:845799 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 932e8448-b3e9-4634-85fb-9e4ab7755c07 CLINVAR:845799 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3684c341-20ed-46e7-8f22-ef2a1e5d87a8 CLINVAR:960548 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f905f16d-c6b6-4daf-a35d-2e35798c74e2 CLINVAR:960548 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6a43b8fa-a36d-4454-9da5-092e89833f18 CLINVAR:339820 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c98cfa3e-641c-4f28-8405-a483d743954f CLINVAR:339820 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0c10c635-3f50-46dd-a452-a2b2b1fc310e CLINVAR:3061340 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 04a67c2b-de55-4bfc-abda-4dc22b1378b0 CLINVAR:3061340 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e123e454-2d1f-4d9a-9a5d-13495ee0d2d4 CLINVAR:1438523 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02023786-bfce-4829-95d3-aa966b5be39c CLINVAR:1438523 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6723ece5-fa33-4570-81f1-45cbdf659b84 CLINVAR:1507190 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 505256df-b4bc-4c91-ab70-ba0918b56fe9 CLINVAR:1507190 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c9dc4d99-7360-46a2-bc50-286f16baab14 CLINVAR:972242 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 621e1c72-a582-400f-9618-0c752811f139 CLINVAR:972242 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 779e2a44-491e-4988-a6b9-dace25920b29 CLINVAR:1509041 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 41bf1623-3a2f-436d-9009-3e7aa5e7fa6e CLINVAR:1509041 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 20693044-0d7b-4092-b652-399ba1b39de1 CLINVAR:1010723 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ada2ef00-f592-40c1-93b9-1ca251b70074 CLINVAR:1010723 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 22a4b024-5fb0-4433-9d99-2d849e93c493 CLINVAR:1479428 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c37f008-7361-4503-8c15-847d6d9aba2f CLINVAR:1479428 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9bcc12e1-f3cc-4e67-b398-a5a7c7e8d811 CLINVAR:2692670 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cfab535d-6ac4-491e-be3b-989ae0901d6c CLINVAR:2692670 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 953c0ec0-4571-4a69-bc0d-6eeb15913090 CLINVAR:2695395 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f3d00bbd-9237-498b-af54-2993e860b0f5 CLINVAR:2695395 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c7be9d59-b702-49c0-9c5f-1dd4921b70bb CA410202720 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c8a1ec7e-46a8-4113-a2c3-911fd0843df4 CA410202720 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8436a1d1-3904-4985-9112-2025551fddd5 CA410203432 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d98fbdb3-4a8e-485a-906d-4349fa8a0fad CA410203432 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8b3e592-fe7d-47dc-ba49-2e1da9ee6e72 CLINVAR:1422929 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5397a202-3540-4fd2-bca0-6850c4e40b9a CLINVAR:1422929 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f8e21e95-b6e9-425c-acae-34df73f9f65e CLINVAR:1432362 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f7eb778-c3dc-49b8-aec4-6aae96f021a9 CLINVAR:1432362 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97b70a88-94c7-4155-9f92-53dbca77959f CLINVAR:1481257 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a548fd6c-5d7d-4510-82fd-7082a0f97a5e CLINVAR:1481257 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e4c49758-903f-4844-a36a-1e9bfc2428c2 CLINVAR:1061802 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24fc3445-1ed9-43bb-81f7-dd45e9111dd5 CLINVAR:1061802 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ec6c2e5b-a4e8-47e4-9eec-b18db34991e0 CLINVAR:1474271 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03786909-e608-43c2-9d86-d686a78c2792 CLINVAR:1474271 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 873fdba4-96b6-41ed-90a6-16257a54fb66 CLINVAR:1063502 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0b9710d0-983c-4668-8067-284e4485dcc4 CLINVAR:1063502 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bd7fd2a0-a395-4173-8f52-e7f1a27ae004 CLINVAR:1371567 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24f29dae-460c-4d32-9db1-901d1dc7d6e1 CLINVAR:1371567 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cf9e0468-7574-4c00-8bfc-1a117361e84a CLINVAR:1417387 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c5e57bdc-3f1d-4f80-ac3a-d7786127dee4 CLINVAR:1417387 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b1e11252-2da9-4f8f-b340-599d62a1bb1d CLINVAR:934627 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7473e31b-5996-474a-9306-db90afcff169 CLINVAR:934627 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f07c4a2b-6a6f-41de-a607-7b6a1c445c23 CLINVAR:1430436 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 24f59b38-b8e1-45e5-8154-dc99ad93882e CLINVAR:1430436 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 05001b51-bea0-423f-b578-15d9105f39ab CLINVAR:934336 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 47adfb93-0748-435f-9e20-a48b8ea88d1b CLINVAR:934336 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 31bb90bc-f0f4-4e0d-bf28-b8b24c73acc4 CLINVAR:858272 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1c9f0543-49e7-43fe-9186-0055772aecd3 CLINVAR:858272 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8821d1ca-e0a5-482f-836d-fd8162e5ceb0 CLINVAR:2814422 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5b8c2cfe-0e7d-494b-a4d8-0e61d3854c16 CLINVAR:2814422 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 036d8d9c-5124-44c3-a613-b7b8ef812268 CLINVAR:2699087 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8881060b-b1db-443f-b127-43b7bbed5841 CLINVAR:2699087 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 04a5fb95-c2ee-4b72-9139-dcee702a2f35 CLINVAR:2808278 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f5400b10-88f1-4664-8dd3-5cc2f40bced0 CLINVAR:2808278 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cbabf725-2e04-4c0d-83ee-df0c60e778ee CLINVAR:2814451 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 63e30dd2-cec3-4a03-a49b-b57901ce85cf CLINVAR:2814451 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 09089d9b-4c6f-4125-80bb-bb83cabced39 CLINVAR:2879097 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 35cf47f6-5191-4cec-a3ac-d8a113501187 CLINVAR:2879097 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ead7573-0405-49d2-9f39-b29e5216a33d CLINVAR:2755227 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5750d604-1e76-4c64-b756-884418a511c0 CLINVAR:2755227 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f956dd5a-33c4-4f64-8f08-45950c162422 CLINVAR:2988050 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5e2209c8-e313-4fe7-b65e-ebdb15c3772a CLINVAR:2988050 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 78917872-0465-42e8-9860-de0b4f18695a CLINVAR:2900640 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3ba955f3-1256-4d69-866b-31dffea20239 CLINVAR:2900640 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0a9b6024-a610-4b5c-a656-6909fe352b02 CLINVAR:2755226 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d0918901-1ec4-4e6c-8886-9f44bcc31813 CLINVAR:2755226 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4640e6d9-d705-44c8-8596-cf9b5a51ce73 CLINVAR:2752334 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 59678ded-b172-47e3-b705-7ab56c889414 CLINVAR:2752334 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 07ce212d-9cbf-494e-8b9a-86adc59f7ed7 CLINVAR:1394837 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d85da261-b4f9-4692-b1f5-d35ca8472f5d CLINVAR:1394837 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb20ff9-4e7e-4528-bb88-b48856b45ca5 CLINVAR:2751155 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ccf3de35-da68-43b2-9c65-a1c86c6eab45 CLINVAR:2751155 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be4751fe-8993-4a90-821e-b6a9bad2376b CA410203630 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 762cf010-3dac-4c52-a4f8-bc1412df93c0 CA410203630 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ba64491-fc3c-42e9-b06d-9d9144d64bd1 CLINVAR:2834488 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 83d0f716-1463-41a6-b37c-583c699bc811 CLINVAR:2834488 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6ee798be-9ab2-473c-930d-22c90b4f38b9 CLINVAR:339845 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 511cbed1-69e6-4180-b4f4-ac989daadca2 CLINVAR:339845 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8f5614e0-f6f1-49ef-a6a9-3d3596f0268e CLINVAR:1471561 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 70d7533e-448e-4918-bc16-8e6e3ccd8a19 CLINVAR:1471561 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0137c4c1-392a-460e-980e-188de64a4a1b CLINVAR:1437603 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 91e409a4-56fb-422d-a405-6d1610b3ea7a CLINVAR:1437603 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b719de5b-e0b8-4cb0-a82c-c728acf7d8a9 CLINVAR:1701950 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e44aa209-e98e-4914-b204-e93c25da5ffc CLINVAR:1701950 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a57329ec-ed85-425d-b5f6-95c5361f4d59 CLINVAR:1467839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6f1fa8f3-ac08-4da5-b758-27875679fb24 CLINVAR:1467839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0336c38c-6e06-4e88-93c5-f8e78b7a0865 CLINVAR:1346637 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 916eae19-578d-488a-88e4-eeb146a785c8 CLINVAR:1346637 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c64272a7-8697-4482-a9b5-e39340f77d11 CLINVAR:1692647 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86af7992-20c1-4c79-b2a6-6718972fdb94 CLINVAR:1692647 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e1f4cec-a3f7-4126-a91b-d4c20f425ef0 CLINVAR:1369516 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5d7afb0d-dc66-4cea-a031-eb49071a5a2b CLINVAR:1369516 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f71ddbd0-e2a6-4455-9859-7bb3f82fa79f CLINVAR:1411636 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a2c4eba-9a63-4910-a5b5-3011cf889202 CLINVAR:1411636 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3d4a9c72-c670-47f2-a8e7-c91108a9c00e CLINVAR:988848 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57860e00-10ce-43db-b872-2397859f0661 CLINVAR:988848 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ee7b40ae-59e1-4054-878b-ef702c489c8b CLINVAR:936839 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d59ccabd-9c81-4378-83b2-a97394851353 CLINVAR:936839 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4524ac94-4e18-4c51-9d20-038bf8ad343d CLINVAR:967968 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d9270506-f533-46a9-b696-92fbf767a32f CLINVAR:967968 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 54f1f8c4-2667-4cad-84ae-10c664b41c41 CLINVAR:1528554 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2e4a8bb6-d53e-4bc0-a711-56813c500504 CLINVAR:1528554 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 75eb1cca-0c38-4e0e-9c74-08ba7019877a CLINVAR:1459284 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c090708e-56b8-48e6-a8ab-e4cb896a44ff CLINVAR:1459284 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffddbbd3-bbe3-41d8-9965-50184699a0a9 CLINVAR:646645 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03b29f83-e9bb-46bf-aff7-801c32642057 CLINVAR:646645 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1223004a-ffa8-4651-956b-6e8b9b1428d8 CLINVAR:2013398 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6169d067-d32c-43cc-8110-f9e946c8e327 CLINVAR:2013398 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 412502b9-f6e5-413e-a0ef-387322a99c69 CLINVAR:1988566 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6c2c1d2d-eda6-401f-84c0-65e5f47d2ec3 CLINVAR:1988566 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a402de97-981c-4485-b050-d68de87eddaf CLINVAR:973890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fd17387a-0ad0-40eb-bd8b-e15cc1a807ad CLINVAR:973890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c82f4427-dd47-482e-9438-8b2cc1ad7b7b CLINVAR:1718521 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8e5ccaab-7646-48f7-b26a-8710b708bf47 CLINVAR:1718521 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dc21e249-9a93-4459-890d-ebb29ac1ec54 CLINVAR:1684419 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5851ae3e-637b-4287-a7cd-7459772e6cc5 CLINVAR:1684419 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4b2109bc-072a-49ea-adad-3663116bff33 CLINVAR:1684411 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fe9ac667-ff07-4681-aaa7-76b254a6988d CLINVAR:1684411 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a0482c81-e8c4-48b6-b6c1-9d6d9750b04d CLINVAR:1516563 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2c4c61dd-af66-4319-9a44-9085f3bfa770 CLINVAR:1516563 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 277d0c74-9e3a-410e-a647-c357b6cd8a1d CLINVAR:1493649 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 425d7dec-bad6-4c69-9e28-8f2213313b81 CLINVAR:1493649 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e98c29de-c192-4ae4-b421-506bb56337a5 CLINVAR:1491218 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 697c4a12-2e80-4e2d-bb22-988369e7f973 CLINVAR:1491218 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0d0cb9b8-5c3e-430a-bf57-3c360816a5c9 CLINVAR:1489490 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 785adc3c-d901-4506-b69a-a6ee969d6f2c CLINVAR:1489490 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen deef0587-bafc-4999-aad4-cadc6c2ce66a CLINVAR:845679 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 485f8ae2-33b0-44fc-9462-f34c67648f4b CLINVAR:845679 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ea52655-55a4-4cd1-b582-393975e6d172 CLINVAR:841418 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7393111c-aed3-4f08-a815-bc79dbebbd3e CLINVAR:841418 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1fb9c011-0411-428e-af8b-b1316730d4e5 CLINVAR:840832 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen adb52938-6b1a-4a08-9528-64dfd0200fc6 CLINVAR:840832 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74039d40-222a-447c-a489-67b88a74f64f CLINVAR:664394 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1024ccc2-a575-4f6b-a43a-5e5cfbdba2d8 CLINVAR:664394 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2805d53c-1c70-4ce8-9843-6a94cf5391e5 CLINVAR:648542 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ab78fdf-48e3-4cd3-80be-bc7ce75cb360 CLINVAR:648542 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c6619867-64d0-4628-8920-5ec669d779e0 CLINVAR:1496920 biolink:genetically_associated_with MONDO:0100083 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6fd7b470-e09e-4f2e-b608-27854af76650 CLINVAR:1496920 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 97ef1164-b070-40af-9a35-7379423f546f CLINVAR:464011 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a3afd7f-a0a2-4567-b381-589a30c1c268 CLINVAR:464011 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 93c41fa9-d606-484e-8298-c59fff377d92 CLINVAR:2001601 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 14c10e49-5460-435b-ab85-aea052dc6bb8 CLINVAR:2001601 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c59b50a-72bf-4adf-9058-9f99c41ce6e1 CLINVAR:532668 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 492542db-812d-45e2-bfe9-ae025dbc0865 CLINVAR:532668 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 94734a29-f99a-4c6c-ade8-f762dd062598 CLINVAR:836066 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1a07f770-baf2-4129-b48f-e94a624e23fd CLINVAR:836066 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15c52c81-8095-4179-a728-609f638e6a13 CLINVAR:663181 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 03adc50e-2610-4b16-9bf8-8943e8ada604 CLINVAR:663181 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4363ed07-b823-41e7-965c-517c321f54f4 CLINVAR:663009 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3cb7cff3-8682-48cb-b914-835534b1bcb9 CLINVAR:663009 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7953a51b-bb13-4bcd-9c2f-798b621043b8 CLINVAR:658039 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 29861c8e-59c3-4321-ba0e-bcf78a009ac7 CLINVAR:658039 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b79e34e-6387-402f-8778-7669274e8230 CLINVAR:657868 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 78e8702a-bb40-44b9-9edb-a517ef8653f3 CLINVAR:657868 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2e9d604d-9cad-48ee-9a08-c7c6c8ffd535 CLINVAR:656386 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2f6940b5-761d-4744-87ac-3b6be54f50ad CLINVAR:656386 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 46e39fd4-c68d-4dd3-b5b9-17b41d250ce5 CLINVAR:650331 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f2720ac8-42d7-4ea1-9c9a-6e04df4620e9 CLINVAR:650331 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6f7674bf-1d42-4f46-a888-72d06d669792 CLINVAR:650005 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c581289b-6dfe-4d9a-abdc-a1feca229f2f CLINVAR:650005 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bc92e6cc-b97e-4d84-adfa-e6e7d18d5196 CLINVAR:643861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 68f2f283-eede-4f00-a0a0-33cb72edaaf4 CLINVAR:643861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 16779ca0-8972-4318-b7c3-4300c9baa11d CLINVAR:641583 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 86a463a4-2806-4ed2-9386-bc68302b85a5 CLINVAR:641583 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f95e8ffa-70d1-463c-a39a-f088772f3529 CLINVAR:639088 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f1ef8614-bd9e-4224-84fd-e8b157871a36 CLINVAR:639088 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7528c4ad-4e5c-4d76-b807-33a1bf5c55c6 CLINVAR:576717 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52da93a5-00ce-417d-9f5f-695eeca7a714 CLINVAR:576717 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 692a2273-3123-45e0-82c8-8a85ea9ff1ea CLINVAR:573788 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 44e5d4f9-32a9-45b9-a826-2650c4619705 CLINVAR:573788 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41bdd488-51a1-4aca-90f3-0a064b08ecc1 CLINVAR:573555 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8acbe14-888e-4d4e-8f4b-f85793b5bb3f CLINVAR:573555 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6499bf85-6180-41ac-bc24-cce4402166d8 CLINVAR:572890 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5a316333-4057-4dd4-9016-88acf13d387e CLINVAR:572890 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ed186dd-1b2e-4cfe-9b0d-3c4d1e2a5387 CLINVAR:570149 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0402a5f9-8827-49db-8911-99cd9cd11de5 CLINVAR:570149 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5d35148e-31b5-44e1-8e3d-4ba352a2b554 CLINVAR:532660 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4b029778-c852-40ee-b356-7e7c7cb6c613 CLINVAR:532660 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4888218e-b8b0-4916-9a18-b7a3e5a21ce7 CLINVAR:532657 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cda5dfc7-b758-4d75-9b7a-8da43c51fad9 CLINVAR:532657 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4e97950e-01f6-4c52-91b7-15966f936162 CLINVAR:532656 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 357c2371-caca-4f5e-8930-7f7467aea053 CLINVAR:532656 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33a441ac-7980-4edd-9f4c-d04161e0f611 CLINVAR:1678200 biolink:genetically_associated_with MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c4114065-2208-4eb1-b8da-0bae6f4c73c3 CLINVAR:1678200 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2450a45f-5cff-4b57-b423-61fe3eeee676 CLINVAR:626913 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen e436adae-a3ba-43e5-8d1f-5c019d3a7498 CLINVAR:626913 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9951f84a-c1ce-4a0e-948c-b195efd27229 CLINVAR:626911 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 07152f4f-0d77-4d1b-b7c3-07efdff347ef CLINVAR:626911 biolink:is_sequence_variant_of HGNC:17271 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7dfb61ae-e1ab-4510-a71b-8c21f0cf29d9 CLINVAR:2146646 biolink:genetically_associated_with MONDO:0011225 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f470281c-c168-4e3f-9c5a-7eb106b1279c CLINVAR:2146646 biolink:is_sequence_variant_of HGNC:17642 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0bb0db94-1181-4173-acaf-31a5a80886f1 CLINVAR:1959 biolink:causes MONDO:0007064 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b3d80ca7-5f10-4629-8d4c-e2a37eac1f27 CLINVAR:1959 biolink:is_sequence_variant_of HGNC:186 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 366061cf-7329-463b-bae3-35dcde5b274f CLINVAR:177778 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 2f311f3a-efe3-427b-94f4-5160e296c640 CLINVAR:177778 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 349c81b8-b0d4-451f-afe9-fd8f5d0fa7c0 CLINVAR:1003866 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ff0d8a61-8767-4d9d-87ff-81fbc0d6fefa CLINVAR:1003866 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 12de2078-61b4-4b0d-ae0f-050cf79ef87a CLINVAR:13903 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 807dbc75-621e-4918-9041-844419cc010e CLINVAR:13903 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 42a23c32-1087-4d92-9896-65218a9a3fd9 CLINVAR:1070042 biolink:causes MONDO:0018997 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 5b79a1cd-30c4-4177-a2b9-842404ab8d4e CLINVAR:1070042 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6222c4b3-e23a-4256-99d8-218aacce763a CLINVAR:424299 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4d38ce6e-cb89-41d6-936b-8d26dc72e916 CLINVAR:424299 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 06b0e6f6-6f1a-442a-88b9-718b4afdc488 CLINVAR:561350 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54b09800-2da0-4a8c-b219-6cda66906a08 CLINVAR:561350 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eeb4bac4-4555-4b44-a54d-de4dad1064b9 CLINVAR:200177 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a75b26de-14d1-47c9-86d8-8331a828c422 CLINVAR:200177 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 41f476c3-26da-49a6-9ea0-b1614189420d CLINVAR:617874 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d4892948-7a3e-4f24-953e-8ad3347642e2 CLINVAR:617874 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 53cd3a33-0516-4dbb-b4ea-afe111674fc7 CLINVAR:549173 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen adf9c114-25c7-4838-af1f-ad296fc38d1b CLINVAR:549173 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 871bc24c-9da4-4651-b459-6d8c5cff9d77 CLINVAR:42339 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 120ba614-217e-4091-abec-1790099cdfe8 CLINVAR:42339 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bfe91c66-fcae-405f-b3b0-2414ef453456 CLINVAR:549019 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8039508f-fa0c-48ff-a6da-a6a693e84b9e CLINVAR:549019 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a7280a7a-5219-457f-b3d3-1471a80742d8 CLINVAR:549180 biolink:associated_with_increased_likelihood_of MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a8768d3d-104c-4f9d-9cdb-41ac5d82914b CLINVAR:549180 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6bd252c2-73be-4bf9-b39d-d04131ffa2fb CLINVAR:495598 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b447df66-c717-44ef-a28c-6a9eee6df89c CLINVAR:495598 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dcd69c7e-7399-4c4e-97fd-d87132c15f7d CLINVAR:200022 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b66580e9-e070-445a-8af5-f61c510c9e8d CLINVAR:200022 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a4cdf03b-5665-4677-9f0c-b5a03ee0452a CLINVAR:495558 biolink:causes MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 446616b2-2236-4373-891a-54837207217b CLINVAR:495558 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8ff62cda-6d4c-4e1d-9b65-b2f0180ca413 CLINVAR:36034 biolink:genetically_associated_with MONDO:0007947 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a367e663-2243-40aa-9d9b-ce5e7858950f CLINVAR:36034 biolink:is_sequence_variant_of HGNC:3603 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a64de5ee-dd46-4588-8164-1f5175f2d061 CLINVAR:164809 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 154d8217-f27d-41c1-8fce-b878f1ba782a CLINVAR:164809 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7a36a28c-aa58-439a-a339-e5f446038e78 CLINVAR:179025 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 54e81627-36b9-4b31-856f-62a62bf4f74c CLINVAR:179025 biolink:is_sequence_variant_of HGNC:7989 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc23c6c9-5093-441f-baf1-116af1535c2b CLINVAR:209089 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 73276c3c-917b-4778-a4af-c4022c009e41 CLINVAR:209089 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ef4f4c4f-fafd-443a-9dc2-b966c063adc8 CLINVAR:2078744 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fc4a4766-e088-49f4-a154-48b547c5d621 CLINVAR:2078744 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d7665960-494c-45a4-80a4-c47e1b3744f1 CA414444915 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d8f9915b-6daa-441f-8846-e7efc7698e28 CA414444915 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 33c8b65e-c252-4a9f-b363-e0c37c1328b1 CA414444922 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen a880f4f3-705c-464c-9ed5-937aee402190 CA414444922 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f91bf905-5e74-40cb-9c15-9d4d2daa0d55 CLINVAR:2138734 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e5744c14-f7d8-4e3c-9f43-ad848f33e5aa CLINVAR:2138734 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 943171f9-50ef-4f85-83e9-86af7ed99456 CLINVAR:10602 biolink:causes MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 422cb6c4-bdf2-4033-98c2-4f271340d7ef CLINVAR:10602 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cdb6f208-cda8-459f-8edb-7534bf62311e CLINVAR:627177 biolink:associated_with_increased_likelihood_of MONDO:0010604 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen d2f60959-09f1-49ce-9d83-60ca5e2649f5 CLINVAR:627177 biolink:is_sequence_variant_of HGNC:3551 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fb630fdb-2139-4205-a23b-e99400ef7431 CA410780392 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen dc3646ec-8600-4161-95de-a04b52c28dff CA410780392 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ffbe419f-1665-4342-b935-56d1b44bd794 CLINVAR:705680 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 4a7b40c5-c29e-4852-a276-c0d440d294ba CLINVAR:705680 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e0a958e6-cb87-4071-b881-574c53205dad CLINVAR:973830 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 3efe661e-2a24-41dc-92af-be9ff6826ae0 CLINVAR:973830 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8efc01d4-dbc6-467c-abb6-13bb8e99e550 CLINVAR:898727 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 89e94a20-be26-4885-80a3-036dc3673606 CLINVAR:898727 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 74257b73-2a36-4767-8d3a-95a1df7399ea CLINVAR:523986 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 66a31d83-cd37-48a4-9e06-8bc914833b3c CLINVAR:523986 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e5d2dd36-88d9-4be9-b336-2d4de6daf377 CLINVAR:2634012 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 290fe018-31be-406c-943a-b28d9bc101d9 CLINVAR:2634012 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f0341ed8-0646-4dd4-9f2d-13b0bfbab0fa CLINVAR:2757091 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e2489e15-99cd-4950-a7f6-1394641b5835 CLINVAR:2757091 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen de1025f4-5ff7-4789-8416-f20423983562 CLINVAR:2839740 biolink:associated_with_increased_likelihood_of MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen de12a3ce-5d7c-4a82-a6a7-084ccd14a770 CLINVAR:2839740 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63530c0f-48f0-4d52-83d3-b6cffb495723 CLINVAR:2750881 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b7aa44fb-1670-4f27-a9e0-ed70da4cbf7e CLINVAR:2750881 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1a150b19-4200-4cc1-bada-d2e281745d8d CLINVAR:2112037 biolink:causes MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 37b9a158-c0d6-4e2c-9ffc-521a59306787 CLINVAR:2112037 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 72a44581-9227-4797-9958-c2bbfb7638c4 CLINVAR:522800 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 03388748-8596-4f72-af8e-bbc3a3e03fbe CLINVAR:522800 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 43e4797f-359c-48be-a280-06a802b0bdce CLINVAR:522164 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen ab3b0df1-5e47-4b2c-a5b8-a0bbc1eb0631 CLINVAR:522164 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 095b7a9d-3758-422e-bdcf-fc075a657ef4 CLINVAR:561716 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f65bd985-9094-41be-91f6-9a60d51e46e1 CLINVAR:561716 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3ab3c429-35da-4fe9-a339-32f596769e1a CLINVAR:1066305 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c2149f48-480e-496a-b28c-9315d58870cc CLINVAR:1066305 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 813bc2da-dff9-4e9b-8f25-603b30b77e46 CLINVAR:599033 biolink:genetically_associated_with MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8516f3cc-3218-4d4f-9bbd-6542f7613a7d CLINVAR:599033 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ea176ac1-9cdc-4b8d-bd8d-411d831f5248 CLINVAR:561683 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 78107edd-cd5b-412b-b8e5-22090cf7ad60 CLINVAR:561683 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 027fa422-27ee-4f10-a100-4cf59bf6cf36 CLINVAR:522799 biolink:causes MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen f97b9567-31f8-4460-8fc5-a5b9033869f9 CLINVAR:522799 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ac2b5bca-ca62-4544-a1c8-227dfcd2f733 CLINVAR:451722 biolink:associated_with_increased_likelihood_of MONDO:0021060 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen ae9a5f16-9498-4979-bda0-52680a785461 CLINVAR:451722 biolink:is_sequence_variant_of HGNC:6742 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0ed1795e-aefb-4cce-8cb0-c122ff689167 CA367400488 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 107159fb-0dd1-482c-96e0-4f4377606811 CA367400488 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2444f9b5-c563-4009-9131-61c1284efa5c CA367400483 biolink:causes MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 44f6ffdb-fd77-42c5-b815-131e9970ea96 CA367400483 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a8da9269-cf69-4c20-a194-31493f32f5fb CA367400486 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bd8557f7-75a0-41e2-bdbf-226198ff7e4a CA367400486 biolink:is_sequence_variant_of HGNC:4195 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b26fc336-c141-4ce4-ac06-c24d627052fd CLINVAR:658067 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3066e513-da23-4fa3-ac8b-c0e5a742102e CLINVAR:658067 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30e00cd6-64d5-4d9f-8194-41d358eb4535 CLINVAR:374331 biolink:associated_with_increased_likelihood_of MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen f011c4ea-736e-4637-8aac-c87122a1bdfa CLINVAR:374331 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b0d62c26-ab62-4d97-b01b-ed63feba52aa CLINVAR:372977 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen f8c1da1d-d2dc-4c72-8867-96baace4c5b1 CLINVAR:372977 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 30608c6d-439e-401c-8117-918589952fbb CLINVAR:12893 biolink:causes MONDO:0000700 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen cf4e9242-3095-47b3-932a-04646b8d7fb0 CLINVAR:12893 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8c1f5dca-6fa1-4ebd-9a8c-c18ce6992a42 CLINVAR:393000 biolink:genetically_associated_with MONDO:0100038 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 17321bf6-77ef-4847-81cf-fb37c4b78b07 CLINVAR:393000 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 61350a01-1e66-4800-bc52-804768824776 CLINVAR:130208 biolink:genetically_associated_with MONDO:0018214 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b6d3388f-afee-458e-959e-834af43c98b3 CLINVAR:130208 biolink:is_sequence_variant_of HGNC:10585 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d992e8d9-e8d0-4896-8da3-cb5e8ceabffc CA2695216038 biolink:causes MONDO:0015628 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen 204d5c11-fb23-47fc-9166-6bcc3c7612c2 CA2695216038 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fe2b1301-b23c-439f-96ad-18f9ae15ff7e CA383520062 biolink:associated_with_increased_likelihood_of MONDO:0015631 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen fbcefbe1-4cce-4c6f-9ec8-8741b888ecc7 CA383520062 biolink:is_sequence_variant_of HGNC:12726 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ae77611c-5666-46b5-8c2c-1c97d64e135d CLINVAR:425863 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fc55f46a-a6df-4c64-b3a3-3b4520fc0af1 CLINVAR:425863 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b13cffe2-7494-40de-b051-4059071fe085 CLINVAR:425885 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 3954b5f6-f9a3-4b05-bd05-c543e2275d44 CLINVAR:425885 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ab78f1bb-4261-47f7-80d5-16a748b6b77f CLINVAR:425886 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 262a2827-d920-4133-97af-a51f4fd5e52b CLINVAR:425886 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen e57e3d14-e9a3-4799-b3ee-a71e82772908 CLINVAR:425887 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 9c06c15a-f34d-4786-b164-e07d1f29d717 CLINVAR:425887 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c85a86dd-02dd-4037-ab73-18d3c6ec1ad7 CLINVAR:425884 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b5fd59c0-470e-42ef-a3d2-fc18f0dbe3cf CLINVAR:425884 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9e5b14d1-b4ce-4cff-8fa1-13c2cff6c83a CLINVAR:425883 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 67110cb1-e6ed-455b-9e3f-041fe774270e CLINVAR:425883 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cb17da59-739c-47e1-8258-dd0f153e9df3 CLINVAR:425888 biolink:associated_with_increased_likelihood_of MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 20e59752-a4bc-489c-b506-de89ca81524f CLINVAR:425888 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen eda9ce53-ad63-4e50-a95e-d67291c079c1 CLINVAR:425889 biolink:genetically_associated_with MONDO:0015924 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen a316b7c8-dd91-474a-beb3-5d6d3285f9ed CLINVAR:425889 biolink:is_sequence_variant_of HGNC:1078 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4629c93d-9bfc-47ab-9b2f-5e270a589163 CLINVAR:323556 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 777686d9-8fb5-4431-9ff1-8dadaf77b0ee CLINVAR:323556 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 936ac159-9b39-4d57-bc3c-898161a10fdc CLINVAR:888902 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 109380e1-d3e8-4849-9e94-a61522a62729 CLINVAR:888902 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4d3401f4-bb2f-471e-8e57-7c9ad9b7e2c3 CLINVAR:1698808 biolink:genetically_associated_with MONDO:0100326 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d47b547e-ce02-4731-8d6b-985984f98b52 CLINVAR:1698808 biolink:is_sequence_variant_of HGNC:6138 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7c897a47-6c5b-4262-acd8-9ba0759ca01e CLINVAR:477043 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3f09adc9-1390-4ad5-8f7a-29f9abc616d9 CLINVAR:477043 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5708c5ab-bc4c-44dd-b935-fb87c8a0fa34 CLINVAR:254293 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1828fa93-b6b5-4599-8c53-f05fb1f91b1e CLINVAR:254293 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 37a6e5b9-e1d7-4250-87bd-394436bd549d CLINVAR:664199 biolink:genetically_associated_with MONDO:0100216 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2ffffa1d-4f0e-4d55-b252-dedf8caa762d CLINVAR:664199 biolink:is_sequence_variant_of HGNC:17098 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0afb2979-91d0-447b-8871-e361440919b4 CLINVAR:339882 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3c08b452-7cea-415c-99db-c70f29e570e5 CLINVAR:339882 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 269abfb9-eb0f-4c81-928d-31b44ee77b65 CLINVAR:339813 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81525650-cd6e-4606-94f7-2b7b4da6405f CLINVAR:339813 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca3d0952-fca2-42c1-9399-fb17747f32ba CLINVAR:897695 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 266b2d24-a14c-4ed0-9f5f-f13bea8bfe3e CLINVAR:897695 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 504e15bf-a9e0-49a1-a8d3-a542543bc5aa CLINVAR:1040892 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 69a84e6a-5df3-4727-9be6-ef4e60b16ad7 CLINVAR:1040892 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 63ca7b5d-3a41-4ead-9e76-d17ec3643759 CLINVAR:2728565 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0e6b03df-42cb-4f0b-9cd4-381feb4052f1 CLINVAR:2728565 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 7f24c1d7-80af-4512-895f-312a5b1513ca CLINVAR:964321 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen acc4b3f2-0e1c-466a-9afc-56932c386581 CLINVAR:964321 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9eb1e37-1373-4cc2-a0f6-365dcc6e0c68 CLINVAR:2419700 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9b7fdcda-6034-48ba-ab2a-139ce61e1107 CLINVAR:2419700 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen fcf66ed6-a099-4057-ba8e-8ccfd0758912 CLINVAR:857804 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 561552e4-3d6a-4590-89e0-ad4febdab5fe CLINVAR:857804 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c0995f37-89c7-4273-8ea7-d6383790107b CLINVAR:970259 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 21557831-9ac3-4f7a-83e8-b695ed1b11e6 CLINVAR:970259 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dee04ee9-538f-41e3-a789-45a605eff4c9 CLINVAR:988867 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6d5b2690-0fbd-4f98-b10c-088ca358e5f4 CLINVAR:988867 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b12b955b-f9ee-4e3e-93d7-b69269df14c4 CLINVAR:840865 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22612161-1266-4b40-b190-b282ee3541c3 CLINVAR:840865 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 616a9505-185e-40a2-b9fe-95afe76481e0 CLINVAR:409817 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 9bde9a35-fbea-4ac0-8e51-da06266defb4 CLINVAR:409817 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c288e568-fdfb-42f0-a276-b13656f1b563 CLINVAR:2728942 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 0d4cad00-22a3-401f-8909-6614b26c77f0 CLINVAR:2728942 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2f6a1b76-7df6-49b8-80fd-e49fe9bee6c1 CLINVAR:2678491 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 71fc2ebc-177a-41ec-bfe3-48001ed4126d CLINVAR:2678491 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 19dbc45e-e343-4fe8-9abd-cb16c86c26bd CLINVAR:856836 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6aab277-aab3-4033-a1b8-e3ab7f916ca9 CLINVAR:856836 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f1305eab-6ba9-459d-8742-ffc05264172b CLINVAR:1037898 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 696ebab6-1d56-48e3-89d3-2c3efebbd570 CLINVAR:1037898 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d3414de4-cc1c-4a1b-96ae-b9e5b657aac7 CLINVAR:1447557 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b8b5b7e1-96f7-4088-85fb-b608bfc4ac75 CLINVAR:1447557 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bb8cf1ee-1a26-4625-84fe-39ca8bcee3b5 CLINVAR:2154408 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen afe95d92-164d-46da-96ff-fc863a6bdc40 CLINVAR:2154408 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ad6e767-c2a8-4454-b961-dc69d3de1cda CLINVAR:463998 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d483649-702b-475a-b3ea-1506af6e90fb CLINVAR:463998 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen bf8c4b03-309f-4448-9b46-9dc78bbc8b52 CLINVAR:409821 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c70a0bcf-363a-49e2-9e96-ce10e17cadd7 CLINVAR:409821 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e8d8002-07ed-47c9-ab32-d07c0231f863 CLINVAR:2045031 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 3d24fbb6-c332-4fd3-b8ce-cb639e6eef7f CLINVAR:2045031 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 15c63025-308f-400e-ab82-94868f7215a3 CLINVAR:2035290 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c7ee1b62-58eb-4bcd-b492-abaf7cc96568 CLINVAR:2035290 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 4ef5131a-9d1f-41fa-bfec-bf021439d229 CLINVAR:409807 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 877a07e7-2c1a-456f-af24-855bd09ef5ce CLINVAR:409807 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen be64360b-67e8-4274-b028-2e9d6a292918 CLINVAR:1346335 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen cbb3915f-c36e-4ce8-adaf-c47431157063 CLINVAR:1346335 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 26440cee-a579-4fef-a49e-27ed9674b2ce CLINVAR:1410456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76bf5c96-f9d3-4e79-846c-900fc2316b42 CLINVAR:1410456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3517f0b5-59b6-4a7b-80ca-b925e141b6e2 CLINVAR:2116456 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 88686dde-1f0a-484d-95f1-f70af1f97ca0 CLINVAR:2116456 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 457eaa72-564e-44c2-bd09-15c2aecd4e86 CLINVAR:2003023 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52bb864b-a037-4847-bdb5-79b295918a48 CLINVAR:2003023 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen b8b22724-fb36-464e-b8d1-3294073af5bd CLINVAR:339880 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen d6ae91af-56ef-4215-86cb-d3bf52bd525c CLINVAR:339880 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 92cfd1af-860f-467e-a84e-c3a896870215 CLINVAR:895826 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 76950be7-fd55-4ddb-b6b3-ab1fc3aaf9ca CLINVAR:895826 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3a7d7247-b241-4ef8-979e-a59480a10ed9 CLINVAR:339847 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e1bf8cec-689d-4b77-b135-01d158b3ae4d CLINVAR:339847 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen dce629ee-ed5e-42e3-8582-795f66acc7e7 CLINVAR:898860 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 5fa92544-6c9e-4a26-961c-625b5221d028 CLINVAR:898860 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f5fa7396-48ff-4b5b-89e2-8a5c9e2bd243 CLINVAR:339834 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 75f34430-51d1-4d9e-9fad-c97774e97654 CLINVAR:339834 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cc1114b6-8d8d-430a-9910-93de1331d3bb CLINVAR:896042 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6b792a97-339c-452d-b6f8-a5c1fee893c9 CLINVAR:896042 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2b5801df-9273-4c32-876e-0c958d37234c CLINVAR:339814 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 6a321eaf-6f34-4ceb-8e56-a5e5893560a0 CLINVAR:339814 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen d30b4874-d9c5-4045-af0f-9ac21f404098 CLINVAR:897697 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 45523902-b375-44a3-a51d-6f11acaf0a74 CLINVAR:897697 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 6deffe00-1154-4a0b-a3c8-9f0d9a6fd22b CLINVAR:897570 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 7e9fdd2b-1208-4d0e-9a68-0d495e9178e7 CLINVAR:897570 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5eee6e76-9ae1-4c38-8dde-f871cfe8f268 CLINVAR:897093 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b42d8c9a-e11b-4044-863b-8c1836950230 CLINVAR:897093 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 21b8dc51-86c1-4382-be0d-01701729a69e CLINVAR:339861 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65f8698d-bcd2-4b7e-b23a-3b90b640cc23 CLINVAR:339861 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 554a490b-8338-42a0-bc42-ca550e682272 CLINVAR:965008 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 01d3016b-5bf9-48d8-8fca-f7228c19ed28 CLINVAR:965008 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 908d324b-2f9b-485c-a0e6-2ba44b4e088f CLINVAR:1022964 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 82ef74ae-af8d-4691-8155-efb0d63f5730 CLINVAR:1022964 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ca33b665-ae83-465e-8277-da0372b9089e CLINVAR:934759 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen b94da8dc-68e4-40ea-99cb-daff792c5a72 CLINVAR:934759 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 1ce8d5b6-e38f-4b01-92b1-a082068babbc CLINVAR:417952 biolink:genetically_associated_with MONDO:0011071 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 52bd1511-d35d-47af-ac95-dfae3711ff95 CLINVAR:417952 biolink:is_sequence_variant_of HGNC:10471 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen ecf5ecc4-0012-4539-92d3-d9cd0bddba0c CLINVAR:316212 biolink:genetically_associated_with MONDO:0012996 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 81e17d14-ca02-4b6b-bc19-1585441c7519 CLINVAR:316212 biolink:is_sequence_variant_of HGNC:4175 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5b2018d5-cc46-445c-9174-493a85eba6b1 CLINVAR:449185 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2b78d22a-9509-4197-9006-a1d2aaaf437a CLINVAR:449185 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 0b81a6c8-189f-472a-8a09-a960f027d830 CLINVAR:588254 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen e4c33614-d691-4c9a-a6ca-64ac55d32656 CLINVAR:588254 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 669ce2d2-8054-4bf2-a458-c6377d222c14 CLINVAR:2181706 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 57630029-04c6-400a-9fbc-7fad75447d83 CLINVAR:2181706 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen cfa5ccbb-cce4-424e-88fb-1f9f66f809d9 CLINVAR:1562414 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 22b423c8-70ec-4a2f-a3d1-80943b5f5585 CLINVAR:1562414 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9ce7868d-8e4d-4432-90e8-fe944d563a20 CLINVAR:511341 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 65919a15-e831-4ddb-9392-d3851beab940 CLINVAR:511341 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5aa57f2b-b245-4f50-ab70-c4cab262d53f CLINVAR:917570 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 02e2e5f1-a820-44c6-878c-1f1291282fdc CLINVAR:917570 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 35e5c2b5-f808-4ec7-85da-12e945091b54 CLINVAR:1676188 biolink:genetically_associated_with MONDO:0010305 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c78f8b9f-3b98-471d-9042-0d2b1588280e CLINVAR:1676188 biolink:is_sequence_variant_of HGNC:11055 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 59a728ab-23e8-4dac-b5aa-a17916044e4d CLINVAR:9679 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 87c15122-5f91-4cd5-9d37-6558ba57894c CLINVAR:9681 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 188b9128-f31e-46fe-a7a0-7ddcada2538a CLINVAR:382591 biolink:genetically_associated_with MONDO:0012589 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen efeecfd7-b6d4-4029-87fe-20099f7a5ca1 CLINVAR:382591 biolink:is_sequence_variant_of HGNC:11634 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen c3df22ee-9cfc-497a-ab3f-7f4783bcef31 CLINVAR:9662 biolink:causes MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen b8306079-c8b0-484a-88f7-b35b7babcfed CLINVAR:995600 biolink:associated_with_increased_likelihood_of MONDO:0008535 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb4025c0-8e9e-4f8f-8108-008ac7c63eca CLINVAR:995600 biolink:is_sequence_variant_of HGNC:3349 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 5e6f7b46-c358-4d75-a1e5-6d4c41c906cc CA16020765 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 769b6855-a2ed-4709-a162-202fdabbbb34 CA16020765 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 3e4196b2-391e-4b7f-8759-8a4181566e64 CLINVAR:102683 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen bb1b9073-3844-44a8-b9a3-6ea0021da4f3 CLINVAR:102683 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a776cbca-b53e-4578-889f-312691e10aa3 CLINVAR:102682 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 8ed842d7-aa02-441b-ac8a-446bde721ea1 CLINVAR:102682 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 14ab62d3-1c52-4116-bb12-2509a5e13046 CLINVAR:102636 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen c1ffd68d-578d-4d0d-9940-bbf057f98d18 CLINVAR:102636 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d1e8f18-79d3-47c7-a9f4-3293882181cf CLINVAR:102637 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 58eb0b82-5936-45db-8670-e46e9b8bcbfb CLINVAR:102637 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2d13fcdb-b1e2-49a1-843b-b75ac1daa457 CA16020793 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 939c7642-2657-4cec-8910-52f758925217 CA16020793 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen a2aff6af-471e-4d2a-be6f-3c2f833708f4 CA386296891 biolink:associated_with_increased_likelihood_of MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 6a7c81c0-d2f8-40ff-8484-0a6b20894c49 CA386296891 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 8caa6d96-32d2-4fb1-9613-f183fccad03e CLINVAR:102695 biolink:genetically_associated_with MONDO:0009861 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b8b7aa7-beba-4630-9580-4bdb916c71aa CLINVAR:102695 biolink:is_sequence_variant_of HGNC:8582 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 9c24f109-3123-49d5-abdf-2a0bcdab4ab0 CLINVAR:134528 biolink:causes MONDO:0012163 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Pathogenic infores:clingen d38935c7-cb4e-4778-8ebc-e9ceecb93125 CLINVAR:134528 biolink:is_sequence_variant_of HGNC:6024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen 2bf9867a-4379-4044-86c7-831dda5fe411 CLINVAR:9658 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen b35ee33c-f3fe-4b27-9bff-e9eb493dcd53 CLINVAR:9665 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 8b97c875-71a7-4559-a83c-291c6a353555 CLINVAR:430687 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 2a2be10d-7fa1-46e9-a1e9-2a4d79dc9b4d CLINVAR:9599 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen fa0c6385-ef3a-49c3-a930-731160dbcf86 CLINVAR:9587 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 1219c20e-7280-478b-bb17-1a65bcafe1de CLINVAR:9595 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4a051aa5-fcd6-4df7-8631-137022051717 CLINVAR:689861 biolink:associated_with_increased_likelihood_of MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e67a440a-cf54-420e-81d9-2aaae8581ef6 CLINVAR:689895 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 853eb16b-ea65-456f-9a4d-28dfdd51ef18 CLINVAR:692361 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen c197417d-f060-42fb-91d0-8554fa5242a1 CLINVAR:812543 biolink:genetically_associated_with MONDO:0044970 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Uncertain Significance infores:clingen 39f054a9-5e2b-4fff-99e6-b54bbd22ec3a CLINVAR:9216 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen 4ed96d2f-489e-44e9-907d-de48446b0ab8 CLINVAR:9216 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen f9521b0a-ea66-4fa0-b82d-7bd1f897ec65 CLINVAR:2580875 biolink:associated_with_increased_likelihood_of MONDO:0015967 biolink:VariantToDiseaseAssociation manual_agent infores:monarchinitiative knowledge_assertion Likely Pathogenic infores:clingen e851e7c5-571b-4080-838b-121778794fd9 CLINVAR:2580875 biolink:is_sequence_variant_of HGNC:5024 biolink:VariantToGeneAssociation manual_agent infores:monarchinitiative knowledge_assertion infores:clingen